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 S1PR5 53637 broad.mit.edu 37 19 10625610 10625610 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:10625610G>A ENST00000439028.3 - 2 203 c.78C>T c.(76-78)cgC>cgT p.R26R S1PR5_ENST00000333430.4_Silent_p.R26R NM_001166215.1 NP_001159687.1 Q9H228 S1PR5_HUMAN sphingosine-1-phosphate receptor 5 26 integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 12 AGCGCGCACCGCGGAGCTTGC 0.692000 21 30 0 0 1 0 0 COL1A1 1277 broad.mit.edu 37 17 48278809 48278809 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:48278809G>A ENST00000225964.5 - 1 184 c.66C>T c.(64-66)ggC>ggT p.G22G NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 22 G -> R (in OI2A). axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CTTCCTCTTGGCCGTGCGTCA 0.572000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 3 35 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78039387 78039387 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:78039387C>T ENST00000397545.4 + 10 1571 c.1544C>T c.(1543-1545)gCg>gTg p.A515V CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000269318.5_Missense_Mutation_p.A515V|CCDC40_ENST00000374877.3_Missense_Mutation_p.A515V NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 515 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCGCACAGGGCGGTGCTGGAG 0.687000 52 56 0 0 1 0 0 GPR108 56927 broad.mit.edu 37 19 6733590 6733590 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:6733590G>A ENST00000264080.7 - 8 740 c.714C>T c.(712-714)ttC>ttT p.F238F GPR108_ENST00000430424.4_5'UTR NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 238 integral to membrane p.F238F(1) breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 CCGTGATGTCGAATGGATGCT 0.622000 4 114 0 0 1 0 0 GSTM5 2949 broad.mit.edu 37 1 110254902 110254902 + Translation_Start_Site SNP T T G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:110254902T>G ENST00000369812.5 + 0 39 GSTM5_ENST00000256593.3_De_novo_Start_OutOfFrame|GSTM5_ENST00000369813.1_De_novo_Start_InFrame P46439 GSTM5_HUMAN glutathione S-transferase mu 5 xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) GCTCCGCTGATGCCTGTCTGC 0.672000 13 226 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139833404 139833404 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:139833404C>T ENST00000303045.6 - 7 1666 c.1220G>A c.(1219-1221)cGc>cAc p.R407H COL22A1_ENST00000435777.1_Missense_Mutation_p.R407H NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 407 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GTCGTAGAGGCGCTTGCCAAT 0.592000 HNSCC(7;0.00092) 44 29 0 0 1 0 0 ESPN 83715 broad.mit.edu 37 1 6488424 6488424 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:6488424G>A ENST00000377828.1 + 2 601 c.433G>A c.(433-435)Gct>Act p.A145T NM_031475.2 NP_113663.2 B1AK53 ESPN_HUMAN espin 145 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) TATCCACTACGCTGCCGCCAA 0.652000 36 35 0 0 1 0 0 HCAR1 27198 broad.mit.edu 37 12 123213948 123213948 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:123213948C>T ENST00000432564.1 - 1 1181 c.939G>A c.(937-939)atG>atA p.M313I HCAR1_ENST00000436083.2_Missense_Mutation_p.M313I|HCAR1_ENST00000356987.2_Missense_Mutation_p.M313I NM_032554.3 NP_115943.1 Q9BXC0 HCAR1_HUMAN hydroxycarboxylic acid receptor 1 313 response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 10 TCGAAATTGGCATCTCTTCCG 0.488000 54 187 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122928465 122928465 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:122928465G>A ENST00000534624.1 - 9 2194 c.1918C>T c.(1918-1920)Ccc>Tcc p.P640S HSPA8_ENST00000227378.3_Missense_Mutation_p.P640S|HSPA8_ENST00000526110.1_Missense_Mutation_p.P621S|HSPA8_ENST00000534319.1_Missense_Mutation_p.P404S|HSPA8_ENST00000533540.1_Missense_Mutation_p.P494S|HSPA8_ENST00000532636.1_Missense_Mutation_p.P640S|HSPA8_ENST00000453788.2_Missense_Mutation_p.P487S NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 640 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TCAATGGTGGGCCCTGAGGAA 0.498000 49 20 0 0 1 0 0 MFI2 4241 broad.mit.edu 37 3 196736498 196736498 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:196736498C>T ENST00000296350.5 - 11 1629 c.1516G>A c.(1516-1518)Gtc>Atc p.V506I NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 506 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CCTGTGAGGACGTCACAGTCC 0.627000 22 69 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33372750 33372750 + Splice_Site SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:33372750C>A ENST00000305768.4 - 18 2223 c.2135_splice c.e18+1 p.R712_splice NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 712 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 CATGCCCCACCTGTTCTGCTG 0.587000 6 20 3.59834e-05 3.86991e-05 1 1 0 ZIK1 284307 broad.mit.edu 37 19 58101931 58101931 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:58101931A>G ENST00000597850.1 + 4 967 c.752A>G c.(751-753)aAg>aGg p.K251R ZIK1_ENST00000536878.2_Missense_Mutation_p.K238R|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.K196R NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TTCCGTGGCAAGTACTCACTT 0.458000 4 87 0 0 1 0 0 SERPINB13 5275 broad.mit.edu 37 18 61264495 61264495 + Silent SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr18:61264495C>A ENST00000344731.5 + 8 1176 c.1074C>A c.(1072-1074)gcC>gcA p.A358A SERPINB13_ENST00000269489.5_Silent_p.A306A NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 358 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TCACATCCGCCCCAGGTCATG 0.507000 24 61 1.10923e-09 1.24706e-09 1 1 0 BIN1 274 broad.mit.edu 37 2 127827599 127827599 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:127827599G>A ENST00000316724.5 - 5 794 c.383C>T c.(382-384)aCg>aTg p.T128M BIN1_ENST00000393040.3_Missense_Mutation_p.T128M|BIN1_ENST00000357970.3_Missense_Mutation_p.T128M|BIN1_ENST00000376113.2_Missense_Mutation_p.T128M|BIN1_ENST00000351659.3_Missense_Mutation_p.T128M|BIN1_ENST00000393041.3_Missense_Mutation_p.T128M|BIN1_ENST00000348750.4_Missense_Mutation_p.T128M|BIN1_ENST00000259238.4_Missense_Mutation_p.T128M|BIN1_ENST00000346226.3_Missense_Mutation_p.T128M|BIN1_ENST00000409400.1_Missense_Mutation_p.T128M|BIN1_ENST00000352848.3_Missense_Mutation_p.T128M NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 128 BAR. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) GCCCAGGTACGTGTCCATGGT 0.602000 27 44 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503168 140503168 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:140503168G>A ENST00000194152.1 + 1 1588 c.1588G>A c.(1588-1590)Gtg>Atg p.V530M NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 530 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGTTCCGCGTGGGCGCCTC 0.672000 84 19 0 0 1 0 0 WDR70 55100 broad.mit.edu 37 5 37443410 37443410 + Missense_Mutation SNP T T G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:37443410T>G ENST00000265107.4 + 7 778 c.622T>G c.(622-624)Ttt>Gtt p.F208V WDR70_ENST00000504564.1_Missense_Mutation_p.F208V NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 208 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGATGTTAAGTTTTGGGATTT 0.398000 32 90 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36277884 36277884 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:36277884C>T ENST00000007510.4 + 20 2656 c.2512C>T c.(2512-2514)Ccc>Tcc p.P838S ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P702S|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P677S O14559 RHG33_HUMAN Rho GTPase activating protein 33 838 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CCATCTCATACCCCTGCTGCT 0.701000 4 11 0 0 1 0 0 BNIP3P1 319138 broad.mit.edu 37 14 28733883 28733883 + RNA SNP G G C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:28733883G>C ENST00000550043.1 + 0 288 TTATAATGGTGACATGGAAAA 0.512000 70 74 0 0 1 0 0 POPDC3 64208 broad.mit.edu 37 6 105606515 105606515 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:105606515C>A ENST00000254765.3 - 4 984 c.706G>T c.(706-708)Ggc>Tgc p.G236C POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 236 integral to membrane NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) ATGTCACTGCCAATTAGCACT 0.393000 6 318 5.4927e-09 6.16307e-09 1 1 0 GALNT6 11226 broad.mit.edu 37 12 51748216 51748216 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:51748216C>T ENST00000543196.2 - 11 2021 c.1816G>A c.(1816-1818)Gcc>Acc p.A606T GALNT6_ENST00000356317.3_Missense_Mutation_p.A606T Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 606 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GGGGCCATGGCTGGCTTTTTG 0.542000 4 53 0 0 1 0 0 PDIA4 9601 broad.mit.edu 37 7 148718078 148718078 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:148718078G>A ENST00000286091.4 - 2 482 c.250C>T c.(250-252)Ctg>Ttg p.L84L NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 84 Thioredoxin 1. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) TAAAACTCCAGCAGCACTGTG 0.473000 10 24 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14341240 14341240 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:14341240C>T ENST00000571589.1 + 12 2295 c.2123C>T c.(2122-2124)cCt>cTt p.P708L MKL2_ENST00000341243.5_Missense_Mutation_p.P697L|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 697 Gln-rich. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CAGCCACCGCCTGCTGTTGTT 0.572000 12 71 0 0 1 0 0 IKBIP 121457 broad.mit.edu 37 12 99007664 99007664 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:99007664C>A ENST00000342502.2 - 3 1163 c.752G>T c.(751-753)aGt>aTt p.S251I IKBIP_ENST00000420861.1_Missense_Mutation_p.S145I|IKBIP_ENST00000393042.3_3'UTR NM_201612.2 NP_963906.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 251 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 GTCGAAGTCACTCTTTAGTTC 0.388000 39 115 1.49673e-21 1.81906e-21 1 1 0 IL21R 50615 broad.mit.edu 37 16 27454418 27454418 + Missense_Mutation SNP G G C rs148782015 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:27454418G>C ENST00000337929.3 + 5 961 c.488G>C c.(487-489)cGg>cCg p.R163P IL21R_ENST00000395754.4_Missense_Mutation_p.R163P|IL21R_ENST00000564089.1_Missense_Mutation_p.R163P|IL21R_ENST00000395755.1_Missense_Mutation_p.R163P NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 163 Fibronectin type-III. natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 TACAGGAACCGGGGAGACCCC 0.557000 T BCL6 NHL 8 70 0 0 1 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065372 55065372 + RNA SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:55065372C>A ENST00000526016.1 - 0 336 NR_038174.2 GGGACAGTGTCTGTGATTCCG 0.458000 5 74 0.00116845 0.00121758 1 1 0 OR10G2 26534 broad.mit.edu 37 14 22102238 22102238 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:22102238G>A ENST00000542433.1 - 1 858 c.761C>T c.(760-762)aCa>aTa p.T254I NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) ATAGTAGACTGTGACCACGAT 0.547000 40 41 0 0 1 0 0 PRRX1 5396 broad.mit.edu 37 1 170689011 170689011 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:170689011G>A ENST00000239461.6 + 2 699 c.386G>A c.(385-387)cGc>cAc p.R129H PRRX1_ENST00000367760.3_Missense_Mutation_p.R129H|PRRX1_ENST00000497230.2_Missense_Mutation_p.R129H NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 129 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GACCTTGCCCGCCGGGTGAAC 0.537000 34 44 0 0 1 0 0 IDH3A 3419 broad.mit.edu 37 15 78453976 78453976 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:78453976C>T ENST00000299518.2 + 5 426 c.343C>T c.(343-345)Cgc>Tgc p.R115C IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000441490.2_Missense_Mutation_p.R6C|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Intron NM_005530.2 NP_005521.1 P50213 IDH3A_HUMAN isocitrate dehydrogenase 3 (NAD+) alpha 115 carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 12 NADH(DB00157) TTTACTGCTGCGCAAAACATT 0.443000 36 95 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27878049 27878049 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:27878049G>T ENST00000374011.2 - 6 1546 c.578C>A c.(577-579)cCc>cAc p.P193H AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.P193H NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 193 Pro-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GGGATGGCTGGGCCGCTCCGA 0.677000 24 63 7.87624e-14 9.25662e-14 1 1 0 FRY 10129 broad.mit.edu 37 13 32808875 32808875 + Nonsense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr13:32808875G>T ENST00000380250.3 + 42 6188 c.5692G>T c.(5692-5694)Gga>Tga p.G1898* NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1898 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GGAGGTGATAGGAGAACATGG 0.488000 3 34 2.56e-06 2.76888e-06 1 1 0 DSP 1832 broad.mit.edu 37 6 7567636 7567636 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:7567636C>T ENST00000379802.3 + 9 1435 c.1094C>T c.(1093-1095)aCc>aTc p.T365I DSP_ENST00000418664.2_Missense_Mutation_p.T365I NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 365 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTTCAGATCACCAAGTGCATT 0.378000 56 104 0 0 1 0 0 SFMBT1 51460 broad.mit.edu 37 3 52941644 52941644 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:52941644C>T ENST00000394752.3 - 18 2394 c.2012G>A c.(2011-2013)cGg>cAg p.R671Q SFMBT1_ENST00000394750.1_Missense_Mutation_p.R671Q|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R671Q|SFMBT1_ENST00000296295.6_Missense_Mutation_p.R671Q NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 671 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) AACATTTTTCCGCCTCTTTCT 0.438000 40 21 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 428001 428001 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:428001G>A ENST00000316418.5 + 9 898 c.854G>A c.(853-855)cGg>cAg p.R285Q AHRR_ENST00000506456.1_Missense_Mutation_p.R123Q|AHRR_ENST00000512529.1_Missense_Mutation_p.R113Q|AHRR_ENST00000505113.1_Missense_Mutation_p.R267Q NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CTCCCGCCGCGGCTGTCGCTG 0.557000 33 27 0 0 1 0 0 ERO1LB 56605 broad.mit.edu 37 1 236388426 236388426 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:236388426G>A ENST00000354619.5 - 13 1267 c.1066C>T c.(1066-1068)Cac>Tac p.H356Y NM_019891.3 NP_063944.3 Q86YB8 ERO1B_HUMAN ERO1-like beta (S. cerevisiae) 356 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TCATCAAAGTGCATGGGAAAG 0.388000 26 114 0 0 1 0 0 WNT16 51384 broad.mit.edu 37 7 120979211 120979211 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:120979211G>T ENST00000222462.2 + 4 1200 c.910G>T c.(910-912)Ggg>Tgg p.G304W WNT16_ENST00000361301.2_Missense_Mutation_p.G294W NM_057168.1 NP_476509.1 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, member 16 304 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1) 18 all_neural(327;0.117) GGGAATCCCAGGGACACAAGG 0.473000 4 39 0.00024832 0.000262116 1 1 0 KIAA1147 57189 broad.mit.edu 37 7 141364990 141364990 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:141364990C>T ENST00000536163.1 - 6 948 c.949G>A c.(949-951)Gcc>Acc p.A317T KIAA1147_ENST00000482493.1_Missense_Mutation_p.A213T NM_001080392.1 NP_001073861.1 A4D1U4 LCHN_HUMAN KIAA1147 317 breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1) 12 Melanoma(164;0.0171) TACTCACAGGCCACATAGGAC 0.617000 20 16 0 0 1 0 0 TMEM79 84283 broad.mit.edu 37 1 156261316 156261316 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:156261316C>T ENST00000405535.2 + 4 1283 c.1112C>T c.(1111-1113)gCc>gTc p.A371V TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Silent_p.C132C|C1orf85_ENST00000472870.1_Intron|TMEM79_ENST00000295694.5_Missense_Mutation_p.A371V NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 371 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) ATGCTCACTGCCACCGAGAGC 0.672000 12 153 0 0 1 0 0 RIPK2 8767 broad.mit.edu 37 8 90796344 90796344 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:90796344C>T ENST00000220751.4 + 8 1320 c.1006C>T c.(1006-1008)Cct>Tct p.P336S RIPK2_ENST00000540020.1_Missense_Mutation_p.P199S NM_003821.5 NP_003812.1 O43353 RIPK2_HUMAN receptor-interacting serine-threonine kinase 2 336 activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 10 BRCA - Breast invasive adenocarcinoma(11;0.0474) TCTGAACATACCTGTAAATCA 0.269000 17 88 0 0 1 0 0 CEL 1056 broad.mit.edu 37 9 135946437 135946437 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:135946437C>T ENST00000372080.4 + 11 1573 c.1557C>T c.(1555-1557)agC>agT p.S519S CEL_ENST00000351304.7_Silent_p.S450S NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 516 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CGGAAAACAGCGGCTACCTGG 0.607000 9 21 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61526189 61526189 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:61526189C>T ENST00000266070.4 - 10 2734 c.2409G>A c.(2407-2409)gaG>gaA p.E803E DIDO1_ENST00000395340.1_Silent_p.E803E|DIDO1_ENST00000395343.1_Silent_p.E803E|DIDO1_ENST00000395335.2_Silent_p.E803E NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 803 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GCGGAGAGTCCTCCAGATCGG 0.468000 32 145 0 0 1 0 0 C2orf88 84281 broad.mit.edu 37 2 191064837 191064837 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:191064837A>G ENST00000340623.4 + 2 662 c.251A>G c.(250-252)tAc>tGc p.Y84C C2orf88_ENST00000443551.2_Missense_Mutation_p.Y84C|C2orf88_ENST00000396974.2_Missense_Mutation_p.Y84C|C2orf88_ENST00000409870.1_Missense_Mutation_p.Y84C NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2 NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2 Q9BSF0 CB088_HUMAN chromosome 2 open reading frame 88 84 kidney(1)|large_intestine(1)|lung(1) 3 AACATCAAGTACCATGACATT 0.458000 35 129 0 0 1 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641800 106641800 + RNA SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:106641800C>A ENST00000390605.2 - 0 172 TGCAGGAGACCTTCACTGAGG 0.587000 6 267 0.00198382 0.0020597 1 1 0 FASTKD3 79072 broad.mit.edu 37 5 7867655 7867655 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:7867655G>A ENST00000264669.5 - 2 678 c.542C>T c.(541-543)gCt>gTt p.A181V MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 181 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 AGCTTGCAAAGCAGTCACTAA 0.448000 19 162 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50732641 50732641 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:50732641C>T ENST00000355832.5 - 5 913 c.835G>A c.(835-837)Gca>Aca p.A279T ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.A279T|PGBD3_ENST00000603152.1_Missense_Mutation_p.A279T|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.A279T NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 279 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GACAGTTTTGCTTGATCTGCC 0.433000 Direct reversal of damage;Nucleotide excision repair (NER) 27 99 0 0 1 0 0 DCST1 149095 broad.mit.edu 37 1 155023188 155023188 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:155023188C>T ENST00000295542.1 + 17 2061 c.1965C>T c.(1963-1965)ccC>ccT p.P655P DCST1_ENST00000423025.2_Silent_p.P630P NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 655 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CCGAGACGCCCGAGTCCTACG 0.726000 OREG0013846 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 18 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34312590 34312590 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:34312590C>T ENST00000373381.4 - 6 1104 c.928G>A c.(928-930)Gga>Aga p.G310R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 270 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGGCTGGCTCCGGTGAACCTG 0.582000 4 20 0 0 1 0 0 HECTD3 79654 broad.mit.edu 37 1 45474374 45474374 + Splice_Site SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:45474374C>A ENST00000372172.4 - 8 1144 c.e8-1 NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) ATCCCATCATCTGGGGGAAGG 0.552000 57 121 4.96213e-28 6.13539e-28 1 1 0 CPN2 1370 broad.mit.edu 37 3 194062486 194062486 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:194062486G>A ENST00000323830.3 - 2 1035 c.946C>T c.(946-948)Cgt>Tgt p.R316C CPN2_ENST00000429275.1_Missense_Mutation_p.R316C NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 316 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) ATGAGGGAACGCAGGTTGGAC 0.582000 9 28 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143718206 143718206 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:143718206T>C ENST00000264170.4 + 8 854 c.596T>C c.(595-597)tTa>tCa p.L199S KYNU_ENST00000409512.1_Missense_Mutation_p.L199S|KYNU_ENST00000375773.2_Missense_Mutation_p.L199S NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 199 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) GAAGAAACCTTAAGAATAGAG 0.378000 23 61 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23762147 23762147 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:23762147A>G ENST00000397312.2 - 2 360 c.86T>C c.(85-87)gTt>gCt p.V29A ELAVL2_ENST00000380110.4_Missense_Mutation_p.V58A|ELAVL2_ENST00000380117.1_Missense_Mutation_p.V29A|ELAVL2_ENST00000223951.6_Missense_Mutation_p.V29A|ELAVL2_ENST00000544538.1_Missense_Mutation_p.V29A NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 29 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) CCCAGAGTCAACTGGTGACGA 0.448000 22 167 0 0 1 0 0 SGPP2 130367 broad.mit.edu 37 2 223423242 223423242 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:223423242G>A ENST00000321276.7 + 5 911 c.825G>A c.(823-825)gcG>gcA p.A275A NM_152386.2 NP_689599.2 Q8IWX5 SGPP2_HUMAN sphingosine-1-phosphate phosphatase 2 275 sphingosine metabolic process endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 18 Renal(207;0.0376) Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143) CAACCCGGGCGGACACCACCA 0.547000 65 100 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49336023 49336023 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:49336023C>T ENST00000351842.4 - 11 1425 c.1417G>A c.(1417-1419)Gag>Aag p.E473K USP4_ENST00000265560.4_Missense_Mutation_p.E520K NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 520 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GAGAGAGCCTCGCACAGGTCG 0.547000 83 35 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183070678 183070678 + Silent SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:183070678T>C ENST00000435564.1 - 8 1139 c.939A>G c.(937-939)aaA>aaG p.K313K PDE1A_ENST00000358139.2_Silent_p.K313K|PDE1A_ENST00000456212.1_Silent_p.K313K|PDE1A_ENST00000410103.1_Silent_p.K313K|PDE1A_ENST00000351439.5_Silent_p.K297K|PDE1A_ENST00000331935.6_Silent_p.K313K|PDE1A_ENST00000409365.1_Silent_p.K297K|PDE1A_ENST00000346717.4_Silent_p.K279K|PDE1A_ENST00000536095.1_Silent_p.K209K NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 313 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TCCAGTCATCTTTGGATAAAT 0.338000 25 39 0 0 1 0 0 RPL8 6132 broad.mit.edu 37 8 146015766 146015766 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:146015766G>A ENST00000262584.3 - 5 821 c.589C>T c.(589-591)Cca>Tca p.P197S RPL8_ENST00000528957.1_Missense_Mutation_p.P197S|RPL8_ENST00000394920.2_Missense_Mutation_p.P197S|RPL8_ENST00000527914.1_Missense_Mutation_p.P88S|RPL8_ENST00000529163.1_5'UTR NM_000973.3 NP_000964.1 P62917 RL8_HUMAN ribosomal protein L8 197 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome kidney(12)|lung(7)|prostate(1) 20 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) CGTACTCGTGGCCAGCAGTTC 0.537000 8 120 0 0 1 0 0 KRT6B 3854 broad.mit.edu 37 12 52845356 52845356 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:52845356G>A ENST00000252252.3 - 1 554 c.507C>T c.(505-507)acC>acT p.T169T NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 169 Coil 1A.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) TGTTGTTGAGGGTCTTGATCT 0.582000 23 197 0 0 1 0 0 SERF2 10169 broad.mit.edu 37 15 44085881 44085881 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:44085881C>A ENST00000409960.2 + 3 271 c.224C>A c.(223-225)cCc>cAc p.P75H RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409614.1_Intron|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000403425.1_Intron|SERF2_ENST00000339624.5_Intron|SERF2_ENST00000402131.1_Intron|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000381359.1_Intron|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000249786.4_Intron NM_001199875.1 NP_001186804.1 P84101 SERF2_HUMAN small EDRK-rich factor 2 0 cytosol|nucleus p.P75H(1) lung(1) 1 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) CTGGTACCTCCCAGTGCCCCA 0.522000 26 57 1.42536e-11 1.64464e-11 1 1 0 PRPSAP2 5636 broad.mit.edu 37 17 18814458 18814458 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:18814458G>A ENST00000268835.2 + 9 910 c.627G>A c.(625-627)gtG>gtA p.V209V PRPSAP2_ENST00000419071.2_Silent_p.V169V|PRPSAP2_ENST00000542013.1_Silent_p.V209V|PRPSAP2_ENST00000536323.1_Silent_p.V123V NM_002767.3 NP_002758.1 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 2 209 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 GAATTGCAGTGATTCATGGAG 0.572000 22 71 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140053103 140053103 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:140053103C>T ENST00000371561.3 + 8 2241 c.1144C>T c.(1144-1146)Cca>Tca p.P382S GRIN1_ENST00000371560.3_Missense_Mutation_p.P403S|GRIN1_ENST00000371553.3_Missense_Mutation_p.P403S|GRIN1_ENST00000371559.4_Missense_Mutation_p.P382S|GRIN1_ENST00000371546.4_Missense_Mutation_p.P403S|GRIN1_ENST00000371550.4_Missense_Mutation_p.P382S|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Missense_Mutation_p.P382S|GRIN1_ENST00000371555.4_Missense_Mutation_p.P403S|GRIN1_ENST00000315048.3_Missense_Mutation_p.P382S NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 382 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GATCATCTGGCCAGGCGGAGA 0.637000 26 57 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60887724 60887724 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:60887724T>C ENST00000252999.3 - 67 9257 c.9191A>G c.(9190-9192)tAc>tGc p.Y3064C NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3064 Laminin G-like 2. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCCCCCAGGTAGTAGGCGTC 0.701000 4 18 0 0 1 0 0 RBCK1 10616 broad.mit.edu 37 20 398399 398399 + Silent SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:398399A>G ENST00000356286.5 + 4 990 c.285A>G c.(283-285)ccA>ccG p.P95P RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Silent_p.P53P NM_031229.2 NP_112506.2 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 1 95 Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1)|lung(4) 5 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) ATGGCTTCCCACCAGTCTTGC 0.612000 19 52 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6528321 6528321 + Missense_Mutation SNP G G A rs150666859 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:6528321G>A ENST00000377748.1 - 21 3303 c.2806C>T c.(2806-2808)Cgc>Tgc p.R936C PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R859C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R896C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R938C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R859C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R859C|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R915C|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R928C NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 915 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GTGCGGCGGCGGAGACGGGGC 0.677000 15 8 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83848263 83848263 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:83848263C>T ENST00000349129.2 + 21 4762 c.4502C>T c.(4501-4503)gCa>gTa p.A1501V DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.A1492V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.A1482V NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1501 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) ACTGAGCTGGCAAAAGTAATA 0.373000 28 98 0 0 1 0 0 CREG2 200407 broad.mit.edu 37 2 101967419 101967419 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:101967419T>C ENST00000324768.4 - 4 976 c.839A>G c.(838-840)gAg>gGg p.E280G NM_153836.3 NP_722578.1 Q8IUH2 CREG2_HUMAN cellular repressor of E1A-stimulated genes 2 280 extracellular region FMN binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 GAAATATTCCTCCCTTGAAAT 0.428000 66 94 0 0 1 0 0 FAM210B 116151 broad.mit.edu 37 20 54941215 54941215 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:54941215G>A ENST00000371384.3 + 3 542 c.451G>A c.(451-453)Gtg>Atg p.V151M NM_080821.2 NP_543011.2 Q96KR6 CT108_HUMAN family with sequence similarity 210, member B 151 DUF1279. integral to membrane AAGTACCTTCGTGGTGGCCTA 0.488000 51 80 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56441908 56441908 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:56441908C>T ENST00000290649.5 - 4 844 c.634G>A c.(634-636)Gga>Aga p.G212R NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 212 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 GTGTGCATTCCGTGGGTGTAG 0.552000 8 52 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97141462 97141462 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:97141462C>T ENST00000371247.2 - 18 1822 c.1633G>A c.(1633-1635)Gtt>Att p.V545I SORBS1_ENST00000354106.3_Missense_Mutation_p.V515I|SORBS1_ENST00000353505.5_Missense_Mutation_p.V430I|SORBS1_ENST00000371246.2_Missense_Mutation_p.V567I|SORBS1_ENST00000371241.1_Missense_Mutation_p.V335I|SORBS1_ENST00000371239.1_Missense_Mutation_p.V344I|SORBS1_ENST00000371249.2_Missense_Mutation_p.V467I|SORBS1_ENST00000347291.4_Missense_Mutation_p.V413I|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Missense_Mutation_p.V376I|SORBS1_ENST00000393949.1_Missense_Mutation_p.V515I|SORBS1_ENST00000607232.1_Missense_Mutation_p.V334I|SORBS1_ENST00000371245.3_Missense_Mutation_p.V430I|SORBS1_ENST00000361941.3_Missense_Mutation_p.V545I|SORBS1_ENST00000371227.4_Missense_Mutation_p.V499I|SORBS1_ENST00000277982.5_Missense_Mutation_p.V567I Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 545 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TTGGTCAGAACGGAAGACTTG 0.413000 37 6 0 0 1 0 0 SEMA3G 56920 broad.mit.edu 37 3 52475366 52475366 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:52475366C>T ENST00000231721.2 - 7 726 c.727G>A c.(727-729)Gtg>Atg p.V243M NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 243 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) AAGAAGTACACCTTGTCATTG 0.627000 11 18 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713243 30713243 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:30713243C>T ENST00000295754.5 + 4 950 c.568C>T c.(568-570)Cgc>Tgc p.R190C TGFBR2_ENST00000359013.4_Missense_Mutation_p.R215C NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 190 activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CTACTGCTACCGCGTTAACCG 0.517000 40 7 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127253865 127253865 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:127253865G>A ENST00000341640.2 - 4 688 c.483C>T c.(481-483)acC>acT p.T161T PAX4_ENST00000338516.3_Silent_p.T169T|PAX4_ENST00000463946.1_Silent_p.T159T|PAX4_ENST00000378740.2_Silent_p.T161T NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 169 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 TCCGGTGGCCGGTCCCTGGGT 0.577000 46 33 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30680659 30680659 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:30680659G>A ENST00000376406.3 - 5 1707 c.1060C>T c.(1060-1062)Cat>Tat p.H354Y MDC1_ENST00000376405.2_Missense_Mutation_p.H354Y|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 354 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CCTACTCCATGGAAGATCTTC 0.552000 Other conserved DNA damage response genes 26 154 0 0 1 0 0 ALG8 79053 broad.mit.edu 37 11 77830229 77830229 + Splice_Site SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:77830229T>C ENST00000376156.3 - 5 548 c.546_splice c.e5+1 p.Q182_splice ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Splice_Site_p.Q182_splice NM_001007027.2 NP_001007028.1 Q9BVK2 ALG8_HUMAN ALG8, alpha-1,3-glucosyltransferase 182 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 30 all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;9.66e-25) TATGTTTACCTGAAATAATCG 0.318000 20 56 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881605 26881605 + Silent SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:26881605T>C ENST00000231021.4 - 12 2182 c.2010A>G c.(2008-2010)caA>caG p.Q670Q NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 670 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TGTCAAAAGCTTGGGTATCTT 0.433000 41 173 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276124 186276124 + Missense_Mutation SNP A A C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:186276124A>C ENST00000445192.2 + 7 1318 c.1273A>C c.(1273-1275)Acc>Ccc p.T425P PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T382P|PRG4_ENST00000367483.4_Missense_Mutation_p.T384P|PRG4_ENST00000367485.4_Missense_Mutation_p.T332P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 425 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGTCTGC 0.657000 21 112 0 0 1 0 0 NUDC 10726 broad.mit.edu 37 1 27269437 27269437 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:27269437C>T ENST00000321265.5 + 6 745 c.622C>T c.(622-624)Cgg>Tgg p.R208W NM_006600.3 NP_006591.1 Q9Y266 NUDC_HUMAN nudC nuclear distribution protein 208 CS. cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development cytosol|microtubule|nucleoplasm protein binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421) GCGGCACCTCCGGGTGGGGCT 0.597000 23 59 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72945430 72945430 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:72945430C>T ENST00000328801.4 + 7 1710 c.1710C>T c.(1708-1710)atC>atT p.I570I NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 570 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) GGTTCGCCATCGTCAACTTCG 0.597000 54 74 0 0 1 0 0 CORO6 84940 broad.mit.edu 37 17 27944056 27944056 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:27944056T>C ENST00000345068.5 - 7 971 c.758A>G c.(757-759)aAc>aGc p.N253S CORO6_ENST00000580212.1_Missense_Mutation_p.N213S|CORO6_ENST00000445145.2_Missense_Mutation_p.N253S|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000456796.3_Missense_Mutation_p.N19S|CORO6_ENST00000388767.3_Missense_Mutation_p.N253S|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Missense_Mutation_p.N253S Q6QEF8 CORO6_HUMAN coronin 6 253 actin cytoskeleton organization actin cytoskeleton actin filament binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2) 14 CTCCTCGAAGTTGTTCTGCCC 0.607000 12 123 0 0 1 0 0 ADCK1 57143 broad.mit.edu 37 14 78325515 78325515 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:78325515C>A ENST00000238561.5 + 4 415 c.316C>A c.(316-318)Ctg>Atg p.L106M ADCK1_ENST00000341211.5_Intron NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 113 extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) TCTGGACTACCTGTTGCCAGA 0.617000 22 128 3.62473e-10 4.11573e-10 1 1 0 BMP2K 55589 broad.mit.edu 37 4 79833124 79833124 + Silent SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:79833124C>A ENST00000335016.5 + 16 3589 c.3423C>A c.(3421-3423)tcC>tcA p.S1141S PAQR3_ENST00000512733.1_3'UTR|PAQR3_ENST00000295462.3_Intron NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 1141 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 CACATCAGTCCCAACAGTCCC 0.443000 91 24 3.47606e-37 4.35462e-37 1 1 0 CCT6P1 643253 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 6 20 0.307466 0.308006 1 1 0 TCOF1 6949 broad.mit.edu 37 5 149755366 149755366 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:149755366C>T ENST00000451292.1 + 12 1895 c.1787C>T c.(1786-1788)gCc>gTc p.A596V TCOF1_ENST00000513346.1_Missense_Mutation_p.A596V|TCOF1_ENST00000504761.2_Missense_Mutation_p.A596V|TCOF1_ENST00000394269.3_Missense_Mutation_p.A596V|TCOF1_ENST00000445265.2_Missense_Mutation_p.A519V|TCOF1_ENST00000323668.7_Missense_Mutation_p.A519V|TCOF1_ENST00000377797.3_Missense_Mutation_p.A596V|TCOF1_ENST00000439160.2_Missense_Mutation_p.A596V Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 596 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGCCTGTAGCCGTCCAGGTC 0.602000 38 55 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153694099 153694099 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chrX:153694099G>A ENST00000369682.3 + 13 2616 c.2441G>A c.(2440-2442)tGc>tAc p.C814Y NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 814 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GAGCACAGGTGCCAGCTGCGG 0.672000 28 25 0 0 1 0 0 C1orf64 149563 broad.mit.edu 37 1 16332528 16332528 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:16332528C>A ENST00000329454.2 + 2 265 c.197C>A c.(196-198)gCc>gAc p.A66D NM_178840.2 NP_849162.1 Q8NEQ6 CA064_HUMAN chromosome 1 open reading frame 64 66 breast(2)|endometrium(1)|lung(3) 6 Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) CCACCCCAAGCCCCCAGTCCC 0.597000 102 90 9.16707e-34 1.14338e-33 1 1 0 CCER1 196477 broad.mit.edu 37 12 91348252 91348252 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:91348252C>A ENST00000358859.2 - 1 701 c.268G>T c.(268-270)Ggg>Tgg p.G90W CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 CGCCAGGGCCCTCCCCAGCAC 0.632000 7 43 0.0293803 0.029588 1 1 0 NCOR1 9611 broad.mit.edu 37 17 15942951 15942951 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:15942951C>A ENST00000268712.3 - 44 7008 c.6751G>T c.(6751-6753)Ggc>Tgc p.G2251C NCOR1_ENST00000395857.3_Missense_Mutation_p.G835C|NCOR1_ENST00000395851.1_Missense_Mutation_p.G2148C NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2251 ID2 (By similarity).|Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AAAGAATGGCCTCTAGAGCTA 0.443000 20 25 5.03518e-11 5.7864e-11 1 1 0 WTIP 126374 broad.mit.edu 37 19 34984431 34984431 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:34984431G>A ENST00000590071.2 + 5 1272 c.935G>A c.(934-936)gGc>gAc p.G312D WTIP_ENST00000270288.6_Missense_Mutation_p.G536D NM_001080436.1 NP_001073905.1 Wilms tumor 1 interacting protein NS(1)|large_intestine(2)|lung(1) 4 all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TACCACCCAGGCTGCTTCCGG 0.647000 17 71 0 0 1 0 0 HPS5 11234 broad.mit.edu 37 11 18320386 18320386 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:18320386C>T ENST00000396253.3 - 9 1237 c.775G>A c.(775-777)Gct>Act p.A259T HPS5_ENST00000531848.1_Missense_Mutation_p.A259T|HPS5_ENST00000438420.2_Missense_Mutation_p.A259T|HPS5_ENST00000349215.3_Missense_Mutation_p.A373T NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 373 cytosol p.A373S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GTACGAGCAGCCAAGTTCCAT 0.463000 Hermansky-Pudlak syndrome 34 198 0 0 1 0 0 NAT16 375607 broad.mit.edu 37 7 100817864 100817864 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:100817864G>A ENST00000300303.2 - 2 463 c.225C>T c.(223-225)ggC>ggT p.G75G NAT16_ENST00000443096.1_Silent_p.G75G|NAT16_ENST00000455377.1_Silent_p.G75G NM_198571.2 NP_940973.2 Q8N8M0 CG052_HUMAN N-acetyltransferase 16 (GCN5-related, putative) 75 N-acetyltransferase. N-acetyltransferase activity AGTCCAGGCCGCCGTAGATGC 0.692000 25 43 0 0 1 0 0 HIST1H2BE 8344 broad.mit.edu 37 6 26184241 26184241 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:26184241G>A ENST00000356530.3 + 1 284 c.218G>A c.(217-219)cGc>cAc p.R73H NM_003523.2 NP_003514.2 P62807 H2B1C_HUMAN histone cluster 1, H2be 73 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(2)|lung(1) 4 ATCTTCGAGCGCATCGCCGGC 0.597000 6 228 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284923 152284923 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:152284923G>A ENST00000368799.1 - 3 2474 c.2439C>T c.(2437-2439)agC>agT p.S813S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 813 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTACTCCAGTGCTGGGCCCTG 0.572000 Ichthyosis 7 476 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76794995 76794995 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:76794995C>T ENST00000312010.6 - 19 3559 c.3235G>A c.(3235-3237)Ggg>Agg p.G1079R USP36_ENST00000542802.2_Missense_Mutation_p.G1079R|USP36_ENST00000449938.2_Missense_Mutation_p.G684R NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 1077 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CATACCTTCCCTCGGTCAAAC 0.597000 50 229 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64521111 64521111 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:64521111C>T ENST00000164139.3 - 11 1681 c.1283G>A c.(1282-1284)cGc>cAc p.R428H PYGM_ENST00000377432.3_Missense_Mutation_p.R340H NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 428 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CAGCGACATGCGCCGCAGCCG 0.687000 5 10 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128227 147128227 + Missense_Mutation SNP G G A rs138004710 byFrequency TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:147128227G>A ENST00000282928.4 + 1 1057 c.328G>A c.(328-330)Gcg>Acg p.A110T NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 110 Poly-Ala. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 TTTTGGCGACGCGGCGGCGGC 0.697000 21 10 0 0 1 0 0 INTS8 55656 broad.mit.edu 37 8 95837161 95837161 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:95837161G>A ENST00000523731.1 + 2 304 c.171G>A c.(169-171)caG>caA p.Q57Q INTS8_ENST00000447247.1_Silent_p.Q57Q NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 57 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) TTTTGGAACAGGCTTCCAAAC 0.328000 69 60 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466043 56466043 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:56466043G>A ENST00000291971.3 + 3 690 c.619G>A c.(619-621)Gcc>Acc p.A207T NLRP8_ENST00000590542.1_Missense_Mutation_p.A207T NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 207 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CAAGACCGTGGCCATACAGGG 0.542000 44 72 0 0 1 0 0 HIRIP3 8479 broad.mit.edu 37 16 30005313 30005313 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:30005313G>T ENST00000279392.3 - 4 1983 c.1153C>A c.(1153-1155)Cgc>Agc p.R385S HIRIP3_ENST00000564026.1_Intron NM_003609.4 NP_003600.2 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 385 chromatin assembly or disassembly nucleus protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 TTGGAAGAGCGGTTCTTCCTC 0.602000 16 50 1.52009e-12 1.77189e-12 1 1 0 TENM3 55714 broad.mit.edu 37 4 183714543 183714543 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:183714543A>G ENST00000511685.1 + 26 6841 c.6718A>G c.(6718-6720)Acc>Gcc p.T2240A TENM3_ENST00000406950.2_Missense_Mutation_p.T2240A teneurin transmembrane protein 3 TTCTAGCAAAACCAGTCTAGG 0.453000 4 42 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33628232 33628232 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr13:33628232A>G ENST00000380099.3 + 2 1156 c.1148A>G c.(1147-1149)cAc>cGc p.H383R KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.H76R NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 383 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTGGACCCTCACATGAAGTTC 0.408000 10 290 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52091373 52091373 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:52091373A>G ENST00000262259.2 + 5 2147 c.1789A>G c.(1789-1791)Aac>Gac p.N597D ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 597 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GAAGGCCTTCAACGGCAGGTC 0.433000 27 162 0 0 1 0 0 CYP39A1 51302 broad.mit.edu 37 6 46609912 46609912 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:46609912C>T ENST00000275016.2 - 2 504 c.301G>A c.(301-303)Gtt>Att p.V101I NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 101 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 GTACGATAAACGATATTTTGC 0.333000 20 32 0 0 1 0 0 EGLN2 112398 broad.mit.edu 37 19 41307129 41307129 + Missense_Mutation SNP C C T rs140368149 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:41307129C>T ENST00000593726.1 + 1 1680 c.652C>T c.(652-654)Cgc>Tgc p.R218C RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.R218C|EGLN2_ENST00000303961.4_Missense_Mutation_p.R218C Q96KS0 EGLN2_HUMAN egl-9 family hypoxia-inducible factor 2 218 cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia cytoplasm|nucleus ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Vitamin C(DB00126) ACGGGGTGGGCGCCTGCGAGA 0.682000 64 103 0 0 1 0 0 HAS3 3038 broad.mit.edu 37 16 69148807 69148807 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:69148807G>A ENST00000306560.1 + 4 1456 c.1300G>A c.(1300-1302)Gca>Aca p.A434T HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.A434T NM_005329.2 NP_005320.2 O00219 HAS3_HUMAN hyaluronan synthase 3 434 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) TCGGGGCAATGCAGAGATGAT 0.547000 68 120 0 0 1 0 0 SERINC1 57515 broad.mit.edu 37 6 122779664 122779664 + Splice_Site SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:122779664C>A ENST00000368454.1 - 4 531 c.e4+1 SERINC1_ENST00000339697.3_Splice_Site Q9NRX5 SERC1_HUMAN serine incorporator 1 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1) 13 GBM - Glioblastoma multiforme(226;0.126) ACGAGACTAACCTTATTCAGT 0.323000 23 99 2.39556e-15 2.84473e-15 1 1 0 HIST1H2BM 8342 broad.mit.edu 37 6 27783013 27783013 + Missense_Mutation SNP C C G rs146702958 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:27783013C>G ENST00000359465.4 + 1 192 c.192C>G c.(190-192)aaC>aaG p.N64K NM_003521.2 NP_003512.1 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 64 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 12 GAATCATGAACTCCTTCGTCA 0.557000 92 119 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8791556 8791556 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:8791556C>T ENST00000447110.1 - 10 1672 c.1548G>A c.(1546-1548)acG>acA p.T516T PIK3R5_ENST00000581552.1_Silent_p.T516T|PIK3R5_ENST00000584803.1_Silent_p.T516T NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 516 platelet activation cytosol|membrane|nucleus p.T516T(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CAACACGTAGCGTGGAAGCCT 0.627000 28 97 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160969620 160969620 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:160969620C>A ENST00000447678.1 - 32 5165 c.5045G>T c.(5044-5046)aGc>aTc p.S1682I LPA_ENST00000316300.5_Missense_Mutation_p.S1682I NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4190 Kringle 15. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CCACCTGATGCTGGGGTCCAT 0.532000 74 86 3.76054e-38 4.72138e-38 1 1 0 HEATR5A 25938 broad.mit.edu 37 14 31828251 31828251 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:31828251G>A ENST00000543095.2 - 15 2268 c.2084C>T c.(2083-2085)gCt>gTt p.A695V HEATR5A_ENST00000439348.1_Missense_Mutation_p.A689V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.A695V|HEATR5A_ENST00000389961.3_Missense_Mutation_p.A689V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A402V NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 689 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TCTGAGGATAGCACAGAGGTT 0.428000 21 94 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146720454 146720454 + Missense_Mutation SNP A A T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:146720454A>T ENST00000392299.2 + 8 2749 c.2279A>T c.(2278-2280)aAt>aTt p.N760I GRM1_ENST00000361719.2_Missense_Mutation_p.N760I|GRM1_ENST00000282753.1_Missense_Mutation_p.N760I|GRM1_ENST00000355289.4_Missense_Mutation_p.N760I|GRM1_ENST00000507907.1_Missense_Mutation_p.N760I|GRM1_ENST00000492807.2_Missense_Mutation_p.N760I Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 760 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TTGGGCTACAATGGACTCCTC 0.517000 32 120 0 0 1 0 0 MLST8 64223 broad.mit.edu 37 16 2258661 2258661 + Silent SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:2258661C>A ENST00000301724.10 + 8 983 c.909C>A c.(907-909)gcC>gcA p.A303A MLST8_ENST00000569417.1_Intron|MLST8_ENST00000564088.1_Intron|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000565250.1_Intron|MLST8_ENST00000382450.4_Intron|MLST8_ENST00000397124.1_Intron Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 0 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding large_intestine(3)|lung(2)|skin(1) 6 CGGCGCTGGCCTCCAGAGCCA 0.711000 8 100 1.12685e-05 1.21419e-05 1 1 0 POM121 9883 broad.mit.edu 37 7 72413825 72413825 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:72413825C>T ENST00000395270.1 + 14 3539 c.2498C>T c.(2497-2499)aCg>aTg p.T833M POM121_ENST00000257622.4_Missense_Mutation_p.T833M|POM121_ENST00000434423.2_Missense_Mutation_p.T1098M|POM121_ENST00000358357.3_Missense_Mutation_p.T833M|POM121_ENST00000446813.1_Missense_Mutation_p.T833M NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1098 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) TCACCCTTCACGTTTGGGGGT 0.642000 9 26 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9437559 9437559 + Silent SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:9437559A>G ENST00000281419.3 + 3 670 c.330A>G c.(328-330)gcA>gcG p.A110A ASAP2_ENST00000315273.4_Silent_p.A110A NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 110 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 AGTTGACAGCACTTTTCAAAA 0.438000 25 65 0 0 1 0 0 OLFML1 283298 broad.mit.edu 37 11 7531294 7531294 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:7531294C>T ENST00000329293.3 + 3 1478 c.1084C>T c.(1084-1086)Ccc>Tcc p.P362S OLFML1_ENST00000530135.1_Missense_Mutation_p.P362S|OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA NM_198474.3 NP_940876.2 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 362 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CTTGTTCTTCCCCAAGAGACC 0.502000 51 89 0 0 1 0 0 ZNF70 7621 broad.mit.edu 37 22 24087058 24087058 + Silent SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr22:24087058G>T ENST00000341976.3 - 2 730 c.270C>A c.(268-270)ctC>ctA p.L90L NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 90 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 TTTGTCCGAAGAGCTCATCAT 0.498000 26 108 3.73148e-12 4.32305e-12 1 1 0 PNPLA7 375775 broad.mit.edu 37 9 140396160 140396160 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:140396160C>T ENST00000406427.1 - 15 1829 c.1493G>A c.(1492-1494)gGc>gAc p.G498D PNPLA7_ENST00000277531.4_Missense_Mutation_p.G473D|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G79D NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 473 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) CGCCACCCGGCCATCCAACAG 0.607000 7 22 0 0 1 0 0 DRG1 4733 broad.mit.edu 37 22 31829860 31829860 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr22:31829860C>A ENST00000331457.4 + 9 1168 c.1007C>A c.(1006-1008)gCt>gAt p.A336D NM_004147.3 NP_004138.1 Q9Y295 DRG1_HUMAN developmentally regulated GTP binding protein 1 336 multicellular organismal development|transcription, DNA-dependent cytoplasm|intermediate filament cytoskeleton|nucleus GTP binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 11 CCATGCAGTGCTCTGGTCTGG 0.438000 20 30 6.33239e-15 7.48851e-15 1 1 0 SLBP 7884 broad.mit.edu 37 4 1701409 1701409 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:1701409T>C ENST00000489418.1 - 5 727 c.361A>G c.(361-363)Atg>Gtg p.M121V SLBP_ENST00000318386.4_Missense_Mutation_p.M128V|SLBP_ENST00000429429.2_Missense_Mutation_p.M82V|SLBP_ENST00000488267.1_Missense_Mutation_p.M86V NM_006527.2 NP_006518.1 Q14493 SLBP_HUMAN stem-loop binding protein 121 DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding endometrium(1)|large_intestine(2)|lung(2) 5 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.0055) ACAGTAGACATAGACTCCTTT 0.393000 13 54 0 0 1 0 0 TRIB3 57761 broad.mit.edu 37 20 376920 376920 + Silent SNP G G A rs61744723 byFrequency TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:376920G>A ENST00000217233.3 + 4 1216 c.663G>A c.(661-663)gcG>gcA p.A221A TRIB3_ENST00000422053.2_Silent_p.A248A NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 221 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) ACAAGCACGCGTGCCCAGCCT 0.617000 6 74 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14106589 14106589 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:14106589G>A ENST00000235372.7 + 8 3155 c.2299G>A c.(2299-2301)Ggg>Agg p.G767R PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.G566R|PRDM2_ENST00000413440.1_Missense_Mutation_p.G566R|PRDM2_ENST00000311066.5_Missense_Mutation_p.G767R NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 767 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GACCGATGCCGGGCTGACTTC 0.522000 5 94 0 0 1 0 0 UBA3 9039 broad.mit.edu 37 3 69105798 69105798 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:69105798C>T ENST00000361055.4 - 14 1102 c.1048G>A c.(1048-1050)Ggg>Agg p.G350R UBA3_ENST00000349511.4_Missense_Mutation_p.G336R|UBA3_ENST00000540295.1_Missense_Mutation_p.G173R|UBA3_ENST00000415609.2_Missense_Mutation_p.G309R NM_003968.3 NP_003959.3 Q8TBC4 UBA3_HUMAN ubiquitin-like modifier activating enzyme 3 350 protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) GTATACAGCCCATCTACATCA 0.264000 106 34 0 0 1 0 0 WDSUB1 151525 broad.mit.edu 37 2 160128239 160128239 + Silent SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:160128239G>T ENST00000409990.3 - 5 1000 c.744C>A c.(742-744)tcC>tcA p.S248S WDSUB1_ENST00000359774.4_Silent_p.S248S|WDSUB1_ENST00000392796.3_Silent_p.S248S|WDSUB1_ENST00000358147.4_Intron|WDSUB1_ENST00000409124.1_Silent_p.S248S NM_001128213.1 NP_001121685.1 Q8N9V3 WSDU1_HUMAN WD repeat, sterile alpha motif and U-box domain containing 1 248 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3) 16 GCCCATCATGGGAAAAAGCAC 0.373000 25 42 3.69857e-22 4.50466e-22 1 1 0 OR5I1 10798 broad.mit.edu 37 11 55703121 55703121 + Silent SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:55703121G>T ENST00000301532.3 - 1 755 c.756C>A c.(754-756)atC>atA p.I252I NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TCCCTTGGTAGATCGTCACTG 0.433000 22 17 2.21704e-12 2.57375e-12 1 1 0 PIDD 55367 broad.mit.edu 37 11 804233 804233 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:804233G>A ENST00000347755.5 - 2 297 c.156C>T c.(154-156)caC>caT p.H52H PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.H52H NM_145886.3|NM_145887.3 NP_665893.2|NP_665894.2 Q9HB75 PIDD_HUMAN p53-induced death domain protein 52 apoptosis|signal transduction cytoplasm|nucleus death receptor binding GGACACACAGGTGCAGCAGCT 0.662000 12 60 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55545326 55545326 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:55545326C>T ENST00000294383.6 - 60 7084 c.7085G>A c.(7084-7086)gGc>gAc p.G2362D USP24_ENST00000407756.1_Missense_Mutation_p.G2202D NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2362 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CTTAAATATGCCAGGAGCTTT 0.458000 11 92 0 0 1 0 0 ENAH 55740 broad.mit.edu 37 1 225702506 225702506 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:225702506G>T ENST00000366844.2 - 7 1461 c.1010C>A c.(1009-1011)cCt>cAt p.P337H ENAH_ENST00000366843.2_Missense_Mutation_p.P337H|ENAH_ENST00000284563.6_Missense_Mutation_p.P584H NM_001008493.1 NP_001008493.1 Q8N8S7 ENAH_HUMAN enabled homolog (Drosophila) 337 Pro-rich. axon guidance|intracellular transport|T cell receptor signaling pathway cytosol|filopodium|focal adhesion|lamellipodium|synapse actin binding|SH3 domain binding|WW domain binding NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.19) aggaggtggagggggccctgg 0.672000 5 20 0.00116845 0.00121758 1 1 0 OPTC 26254 broad.mit.edu 37 1 203466160 203466160 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:203466160C>T ENST00000367222.2 + 3 403 c.287C>T c.(286-288)aCg>aTg p.T96M NM_014359.3 NP_055174.1 Q9UBM4 OPT_HUMAN opticin 96 Ser/Thr-rich. proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) AAGAGCACTACGGCTCCAGGG 0.557000 36 52 0 0 1 0 0 BEST2 54831 broad.mit.edu 37 19 12864086 12864086 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:12864086C>T ENST00000549706.1 + 3 489 c.165C>T c.(163-165)acC>acT p.T55T BEST2_ENST00000553030.1_Silent_p.T55T|BEST2_ENST00000042931.1_Silent_p.T55T Q8NFU1 BEST2_HUMAN bestrophin 2 55 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 TTGTGCTGACCGAAGGGCAGA 0.562000 18 103 0 0 1 0 0 UTP6 55813 broad.mit.edu 37 17 30192412 30192412 + Silent SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:30192412A>G ENST00000261708.4 - 18 1746 c.1609T>C c.(1609-1611)Ttg>Ctg p.L537L NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) 537 rRNA processing nucleolus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) AACTCTCTCAAAGCTCTCTCA 0.373000 5 99 0 0 1 0 0 GJC1 10052 broad.mit.edu 37 17 42883140 42883140 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:42883140G>T ENST00000426548.1 - 3 315 c.46C>A c.(46-48)Cat>Aat p.H16N GJC1_ENST00000590758.1_Missense_Mutation_p.H16N|GJC1_ENST00000330514.4_Missense_Mutation_p.H16N|GJC1_ENST00000592524.1_Missense_Mutation_p.H16N NM_001080383.1|NM_005497.3 NP_001073852.1|NP_005488.2 P36383 CXG1_HUMAN gap junction protein, gamma 1, 45kDa 16 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) AATGTGGAATGGTTGTGAATC 0.433000 22 31 1.10923e-09 1.24706e-09 1 1 0 PTPRC 5788 broad.mit.edu 37 1 198718660 198718660 + Silent SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:198718660C>A ENST00000367376.2 + 28 3219 c.3048C>A c.(3046-3048)atC>atA p.I1016I PTPRC_ENST00000594404.1_Silent_p.I855I|PTPRC_ENST00000352140.3_Silent_p.I968I|PTPRC_ENST00000348564.6_Silent_p.I857I|PTPRC_ENST00000442510.2_Silent_p.I1018I NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1016 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GCAAATACATCAATGCATCTT 0.348000 7 67 0.00307968 0.00319167 1 1 0 SH2B3 10019 broad.mit.edu 37 12 111884578 111884578 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:111884578G>A ENST00000341259.2 + 3 1111 c.754G>A c.(754-756)Gca>Aca p.A252T SH2B3_ENST00000538307.1_Missense_Mutation_p.A50T NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 252 PH. blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 CAAGCTACAAGCAGCTTGCTC 0.517000 4 44 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40315821 40315821 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:40315821G>A ENST00000264661.3 - 13 2612 c.2280C>T c.(2278-2280)agC>agT p.S760S KCNH4_ENST00000607371.1_Silent_p.S760S NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 760 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CGCCCAAAAGGCTGACCAGGG 0.701000 3 9 0 0 1 0 0 HOXC10 3226 broad.mit.edu 37 12 54379591 54379591 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:54379591G>A ENST00000303460.4 + 1 622 c.548G>A c.(547-549)cGc>cAc p.R183H NM_017409.3 NP_059105.2 Q9NYD6 HXC10_HUMAN homeobox C10 183 positive regulation of cell proliferation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(14)|pancreas(1) 20 CTCAACCCGCGCGCCGAACAT 0.642000 32 52 0 0 1 0 0 POLG 5428 broad.mit.edu 37 15 89872299 89872299 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:89872299C>T ENST00000268124.5 - 4 1231 c.898G>A c.(898-900)Gcc>Acc p.A300T POLG_ENST00000442287.2_Missense_Mutation_p.A300T NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 300 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) CCTGAGATGGCCATGTGCATG 0.597000 DNA polymerases (catalytic subunits) 10 33 0 0 1 0 0 EIF3K 27335 broad.mit.edu 37 19 39114838 39114838 + Splice_Site SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:39114838G>A ENST00000545173.2 + 3 355 c.e3+1 EIF3K_ENST00000592558.1_Splice_Site|EIF3K_ENST00000593149.1_Splice_Site|EIF3K_ENST00000588934.1_Splice_Site|EIF3K_ENST00000248342.4_Splice_Site|EIF3K_ENST00000593062.1_Splice_Site|EIF3K_ENST00000538434.1_Splice_Site Q9UBQ5 EIF3K_HUMAN eukaryotic translation initiation factor 3, subunit K regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex|nucleus protein binding|ribosome binding|translation initiation factor activity EIF3K/CYP39A1(2) central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCAGGCACATGTATCCTTCCA 0.577000 7 48 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12409289 12409289 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:12409289C>T ENST00000358136.3 + 46 9419 c.9289C>T c.(9289-9291)Cgg>Tgg p.R3097W VPS13D_ENST00000356315.4_Missense_Mutation_p.R3072W NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3096 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CACTTCTTGGCGGCTACAGGC 0.488000 66 86 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 51013326 51013326 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr18:51013326A>G ENST00000442544.2 + 26 4512 c.3896A>G c.(3895-3897)cAg>cGg p.Q1299R DCC_ENST00000581580.1_Intron|RP11-671P2.1_ENST00000582064.1_RNA NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1299 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GGAAGAAGTCAGTGTAATGCA 0.453000 23 49 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35712949 35712949 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:35712949C>A ENST00000314888.9 - 27 3797 c.3444G>T c.(3442-3444)caG>caT p.Q1148H TLN1_ENST00000540444.1_Missense_Mutation_p.Q1148H NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1148 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GTACAATGGCCTGCACTGCAG 0.617000 3 10 0.004672 0.00481562 1 1 0 WWC3 55841 broad.mit.edu 37 X 10085539 10085539 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chrX:10085539G>A ENST00000380861.4 + 11 1831 c.1440G>A c.(1438-1440)ccG>ccA p.P480P WWC3_ENST00000454666.1_Silent_p.P480P NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 480 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 GGGACTCGCCGCTGGCGCAGC 0.701000 17 2 0 0 1 0 0 MPI 4351 broad.mit.edu 37 15 75185033 75185033 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:75185033C>T ENST00000352410.4 + 4 444 c.377C>T c.(376-378)cCg>cTg p.P126L MPI_ENST00000564003.1_Missense_Mutation_p.P76L|MPI_ENST00000566377.1_Missense_Mutation_p.P126L|MPI_ENST00000562606.1_Missense_Mutation_p.P106L|MPI_ENST00000565576.1_Missense_Mutation_p.P126L|MPI_ENST00000535694.1_Missense_Mutation_p.P76L|MPI_ENST00000563786.1_Missense_Mutation_p.P106L|MPI_ENST00000323744.6_Missense_Mutation_p.P126L|MPI_ENST00000563422.1_Missense_Mutation_p.P126L P34949 MPI_HUMAN mannose phosphate isomerase 126 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 CTCCAGGCTCCGCAGCACTAC 0.612000 36 30 0 0 1 0 0 TOP2A 7153 broad.mit.edu 37 17 38568020 38568020 + Silent SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:38568020A>G ENST00000423485.1 - 8 998 c.840T>C c.(838-840)gaT>gaC p.D280D NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 280 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TACCAGTTTCATCCAACTTGT 0.338000 11 80 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110252320 110252320 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:110252320C>T ENST00000418703.2 - 1 376 c.282G>A c.(280-282)tcG>tcA p.S94S TRPV4_ENST00000392719.2_Silent_p.S94S|TRPV4_ENST00000544971.1_Silent_p.S94S|TRPV4_ENST00000537083.1_Silent_p.S94S|TRPV4_ENST00000536838.1_Silent_p.S60S|TRPV4_ENST00000261740.2_Silent_p.S94S|TRPV4_ENST00000346520.2_Silent_p.S94S|TRPV4_ENST00000541794.1_Silent_p.S94S NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 94 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CAGGCACCACCGAGGACTCAT 0.577000 11 41 0 0 1 0 0 ILF2 3608 broad.mit.edu 37 1 153642700 153642700 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:153642700G>A ENST00000361891.4 - 2 137 c.12C>T c.(10-12)gaC>gaT p.D4D ILF2_ENST00000368681.1_Silent_p.D4D NM_001267809.1|NM_004515.3 NP_001254738.1|NP_004506.2 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 4 immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CACGGCCTCTGTCACCCCTAG 0.512000 20 67 0 0 1 0 0 CCT6P3 643180 broad.mit.edu 37 7 64530078 64530078 + RNA SNP T T A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:64530078T>A ENST00000426828.1 + 0 898 NR_033416.1 TGAATTCTTTTGAGGACCTAA 0.408000 42 27 0 0 1 0 0 ZNF33A 7581 broad.mit.edu 37 10 38306270 38306270 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:38306270A>G ENST00000374618.3 + 4 384 c.206A>G c.(205-207)gAg>gGg p.E69G ZNF33A_ENST00000307441.9_Missense_Mutation_p.E69G|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Missense_Mutation_p.E69G|ZNF33A_ENST00000458705.2_Missense_Mutation_p.E69G|ZNF33A_ENST00000432900.2_Missense_Mutation_p.E76G NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 69 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 CAAGGAGAAGAGCCATGGAAA 0.433000 42 264 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038930 75038930 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:75038930C>T ENST00000326665.5 - 14 2682 c.2464G>A c.(2464-2466)Gca>Aca p.A822T C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 822 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AACTCTTCTGCCAATTCTGGC 0.572000 32 80 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20135612 20135612 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:20135612G>A ENST00000395530.2 + 5 2210 c.2002G>A c.(2002-2004)Gtg>Atg p.V668M SPECC1_ENST00000395522.2_Missense_Mutation_p.V668M|SPECC1_ENST00000395525.3_Missense_Mutation_p.V668M|SPECC1_ENST00000261503.5_Missense_Mutation_p.V749M|SPECC1_ENST00000536879.1_Missense_Mutation_p.V89M|SPECC1_ENST00000584527.1_Missense_Mutation_p.V167M|SPECC1_ENST00000395527.4_Missense_Mutation_p.V749M|SPECC1_ENST00000395529.3_Missense_Mutation_p.V749M|SPECC1_ENST00000472876.1_3'UTR|AC004702.2_ENST00000580225.1_lincRNA NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 749 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) GCTGCGCACCGTGAAGAGGAA 0.637000 43 56 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88885366 88885366 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:88885366G>T ENST00000303236.3 - 9 1944 c.1643C>A c.(1642-1644)cCt>cAt p.P548H EIF2AK3_ENST00000419748.1_Missense_Mutation_p.P397H NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 548 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TACCCTGTGAGGATGAGGATG 0.443000 40 60 9.62906e-15 1.13635e-14 1 1 0 DCHS1 8642 broad.mit.edu 37 11 6645101 6645101 + Silent SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:6645101A>G ENST00000299441.3 - 21 8217 c.7806T>C c.(7804-7806)ttT>ttC p.F2602F NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2602 Cadherin 24. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGCTCGGGTAAAGACAGGTG 0.572000 26 311 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55780162 55780162 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:55780162G>A ENST00000373965.2 - 21 2956 c.2562C>T c.(2560-2562)gaC>gaT p.D854D PCDH15_ENST00000395433.1_Silent_p.D825D|PCDH15_ENST00000395430.1_Silent_p.D847D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.D852D|PCDH15_ENST00000373955.1_Silent_p.D847D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Silent_p.D847D|PCDH15_ENST00000409834.1_Silent_p.D458D|PCDH15_ENST00000395432.2_Silent_p.D810D|PCDH15_ENST00000437009.1_Silent_p.D776D|PCDH15_ENST00000395445.1_Silent_p.D854D|PCDH15_ENST00000361849.3_Silent_p.D847D|PCDH15_ENST00000320301.6_Silent_p.D847D NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 847 Cadherin 8. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTGCTCCAAGGTCGACATCTT 0.398000 HNSCC(58;0.16) 87 31 0 0 1 0 0 MANSC1 54682 broad.mit.edu 37 12 12483053 12483053 + Missense_Mutation SNP C C T rs138511907 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:12483053C>T ENST00000535902.1 - 4 1767 c.1204G>A c.(1204-1206)Gtc>Atc p.V402I MANSC1_ENST00000545735.1_Missense_Mutation_p.V321I|MANSC1_ENST00000396349.3_Missense_Mutation_p.V368I Q9H8J5 MANS1_HUMAN MANSC domain containing 1 402 integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) CCCAGGAGGACGAGGCCTATC 0.483000 33 42 0 0 1 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153303392 153303392 + Missense_Mutation SNP C C T rs146118434 byFrequency TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:153303392C>T ENST00000368739.3 - 9 1319 c.961G>A c.(961-963)Gca>Aca p.A321T PGLYRP4_ENST00000359650.5_Missense_Mutation_p.A325T Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 325 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TCTTGGGCTGCCTCTAGTGCT 0.542000 31 121 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69966598 69966598 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:69966598A>G ENST00000358913.5 + 19 4219 c.3731A>G c.(3730-3732)tAc>tGc p.Y1244C MYPN_ENST00000354393.2_Missense_Mutation_p.Y969C|MYPN_ENST00000540630.1_Missense_Mutation_p.Y1244C NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 1244 Ig-like 5.|Interaction with ACTN. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GCTGGATGGTACACGTTGTCA 0.468000 79 32 0 0 1 0 0 ZNF284 342909 broad.mit.edu 37 19 44590835 44590835 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:44590835G>A ENST00000421176.3 + 5 1420 c.1204G>A c.(1204-1206)Gac>Aac p.D402N ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) ATTCAAGTGCGACGGATGTGG 0.433000 14 150 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21141501 21141501 + Silent SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:21141501A>G ENST00000377122.4 - 10 1377 c.981T>C c.(979-981)caT>caC p.H327H NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 327 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CATTGCCTTTATGGTGCAGAT 0.483000 43 86 0 0 1 0 0 MARCH2 51257 broad.mit.edu 37 19 8491643 8491643 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:8491643C>T ENST00000602117.1 + 3 782 c.327C>T c.(325-327)tgC>tgT p.C109C MARCH2_ENST00000381035.4_Silent_p.C109C|MARCH2_ENST00000601283.1_Intron|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000215555.2_Silent_p.C109C|MARCH2_ENST00000393944.1_Silent_p.C109C Q9P0N8 MARH2_HUMAN membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase 109 endocytosis cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1) 10 GCGAGCTGTGCCACACGGAGT 0.607000 9 50 0 0 1 0 0 ZRANB2 9406 broad.mit.edu 37 1 71536591 71536591 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:71536591C>T ENST00000370920.3 - 7 903 c.602G>A c.(601-603)cGa>cAa p.R201Q ZRANB2_ENST00000254821.6_Missense_Mutation_p.R201Q NM_203350.2 NP_976225.1 O95218 ZRAB2_HUMAN zinc finger, RAN-binding domain containing 2 201 Arg/Ser-rich.|Required for nuclear targeting. mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1) 15 TGAGCGACTTCGTCTATTAGA 0.403000 66 49 0 0 1 0 0 GPR152 390212 broad.mit.edu 37 11 67220087 67220087 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:67220087C>A ENST00000312457.2 - 1 113 c.109G>T c.(109-111)Gtg>Ttg p.V37L CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 37 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) AGCAGGGCCACCAGGAAGACC 0.667000 6 17 0.0215528 0.0218207 1 1 0 MARK1 4139 broad.mit.edu 37 1 220754423 220754423 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:220754423T>C ENST00000366918.4 + 3 869 c.272T>C c.(271-273)aTa>aCa p.I91T MARK1_ENST00000366917.4_Missense_Mutation_p.I91T|MARK1_ENST00000472121.1_3'UTR|MARK1_ENST00000402574.1_5'UTR Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 91 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) GTGAAAATAATAGACAAAACT 0.234000 16 55 0 0 1 0 0 CD44 960 broad.mit.edu 37 11 35218339 35218339 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:35218339G>A ENST00000428726.2 + 6 837 c.714G>A c.(712-714)agG>agA p.R238R CD44_ENST00000434472.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000437706.2_Silent_p.R238R|CD44_ENST00000433354.2_Silent_p.R238R|CD44_ENST00000360158.4_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000449691.2_Silent_p.R238R NM_000610.3 NP_000601.3 P16070 CD44_HUMAN CD44 molecule (Indian blood group) 238 Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1) 23 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) CAACCAAGAGGCAAGAAACCT 0.373000 16 87 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30978857 30978857 + Silent SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:30978857C>A ENST00000262519.8 + 10 3404 c.2718C>A c.(2716-2718)gcC>gcA p.A906A NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 906 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 TTTCCGAGGCCAGTGAGGAAA 0.572000 59 237 1.31171e-36 1.63963e-36 1 1 0 C16orf91 283951 broad.mit.edu 37 16 1478413 1478413 + Splice_Site SNP C C T rs141111870 byFrequency TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:1478413C>T ENST00000310355.1 - 2 237 c.238_splice c.e2+1 p.A80_splice Q4G0I0 CSMT1_HUMAN chromosome 16 open reading frame 91 0 integral to membrane breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 ATTTCCTCACCCTTGGCGTCC 0.697000 5 28 0 0 1 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204380267 204380267 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:204380267C>T ENST00000367188.4 - 1 652 c.273G>A c.(271-273)atG>atA p.M91I RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 91 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) TGGTCGGAAACATTCCACCGA 0.562000 5 173 0 0 1 0 0 SUSD3 203328 broad.mit.edu 37 9 95840266 95840266 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:95840266G>A ENST00000375472.3 + 3 452 c.416G>A c.(415-417)cGc>cAc p.R139H SUSD3_ENST00000375469.1_Missense_Mutation_p.R126H NM_145006.2 NP_659443.1 Q96L08 SUSD3_HUMAN sushi domain containing 3 139 integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 13 AAGCGGCGGCGCTCCAACAGG 0.602000 4 70 0 0 1 0 0 ACD 65057 broad.mit.edu 37 16 67693883 67693883 + Silent SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:67693883C>A ENST00000219251.8 - 2 745 c.414G>T c.(412-414)ggG>ggT p.G138G ACD_ENST00000393919.4_Silent_p.G141G NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 141 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GCAGCGTGGCCCCGACGTCGG 0.716000 20 19 1.50039e-11 1.72772e-11 1 1 0 HID1 283987 broad.mit.edu 37 17 72960578 72960578 + Splice_Site SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:72960578C>A ENST00000425042.2 - 2 293 c.216_splice c.e2+1 p.K72_splice HID1_ENST00000532900.1_5'UTR NM_030630.2 NP_085133.1 HID1 domain containing CAGCCCTCACCTTGTAGCACA 0.667000 8 7 1.12685e-05 1.21419e-05 1 1 0 MAN2B1 4125 broad.mit.edu 37 19 12767812 12767812 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:12767812C>T ENST00000456935.2 - 12 1518 c.1478G>A c.(1477-1479)tGc>tAc p.C493Y MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Missense_Mutation_p.C492Y NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 493 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TAGCTGTTGGCAAAAGGTGAA 0.627000 4 40 0 0 1 0 0 LINGO3 645191 broad.mit.edu 37 19 2291274 2291274 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:2291274G>A ENST00000585527.1 - 1 749 c.502C>T c.(502-504)Cgc>Tgc p.R168C LINGO3_ENST00000404279.1_Missense_Mutation_p.R168C P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 168 integral to membrane lung(1)|urinary_tract(1) 2 GCGAAGGCGCGGCGCGAGACG 0.667000 4 59 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76568838 76568838 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:76568838G>T ENST00000389840.5 - 3 608 c.484C>A c.(484-486)Ctg>Atg p.L162M DNAH17_ENST00000585328.1_Missense_Mutation_p.L162M dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGAATAGGCAGCAAGGTTTTG 0.587000 8 30 0.000157383 0.000166744 1 1 0 ASCL1 429 broad.mit.edu 37 12 103352503 103352503 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:103352503C>T ENST00000266744.3 + 1 1040 c.481C>T c.(481-483)Cgc>Tgc p.R161C NM_004316.3 NP_004307.2 P50553 ASCL1_HUMAN achaete-scute family bHLH transcription factor 1 161 Helix-loop-helix motif. cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity NS(3)|large_intestine(1)|lung(1) 5 GGAGACACTGCGCTCGGCGGT 0.657000 25 39 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75526247 75526247 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:75526247C>T ENST00000339365.2 + 13 1909 c.1747C>T c.(1747-1749)Ctg>Ttg p.L583L SEC24C_ENST00000345254.4_Silent_p.L583L|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Silent_p.L464L|SEC24C_ENST00000546025.1_3'UTR NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 583 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) GTTTGTGCCACTGCTGGATGG 0.507000 6 38 0 0 1 0 0 WNT9A 7483 broad.mit.edu 37 1 228109526 228109526 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:228109526G>A ENST00000272164.5 - 4 801 c.791C>T c.(790-792)gCa>gTa p.A264V WNT9A_ENST00000497852.1_Intron NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 264 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) GATGGCACCTGCCTCGCCGGC 0.662000 30 77 0 0 1 0 0 C19orf80 55908 broad.mit.edu 37 19 11350481 11350481 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:11350481G>A ENST00000252453.8 + 1 187 c.168G>A c.(166-168)acG>acA p.T56T C19orf80_ENST00000591200.1_Intron|DOCK6_ENST00000294618.7_Intron NM_018687.6 NP_061157.3 Q6UXH0 TD26_HUMAN chromosome 19 open reading frame 80 56 extracellular region NS(1)|breast(1)|endometrium(2) 4 ACAGGACCACGGAGGGACGGC 0.657000 3 18 0 0 1 0 0 UCP3 7352 broad.mit.edu 37 11 73716905 73716905 + Silent SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:73716905T>C ENST00000314032.4 - 4 963 c.411A>G c.(409-411)acA>acG p.T137T UCP3_ENST00000426995.2_Silent_p.T137T|UCP3_ENST00000348534.4_Intron NM_003356.3 NP_003347.1 P55916 UCP3_HUMAN uncoupling protein 3 (mitochondrial, proton carrier) 137 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) TCACCACATCTGTGGGCTGGG 0.612000 22 43 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39993776 39993776 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:39993776C>T ENST00000332312.3 - 2 381 c.189G>A c.(187-189)gtG>gtA p.V63V NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 63 EMI. 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) CATTCCTGTGCACCACATAGG 0.597000 7 67 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20180466 20180466 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:20180466G>A ENST00000245957.5 + 17 1928 c.1852G>A c.(1852-1854)Gtg>Atg p.V618M C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 618 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CTTGGTTCCCGTGCGACCACG 0.532000 39 191 0 0 1 0 0 ARMC12 221481 broad.mit.edu 37 6 35715212 35715212 + Splice_Site SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:35715212G>A ENST00000373866.3 + 4 640 c.e4+1 ARMC12_ENST00000373869.3_Splice_Site|ARMC12_ENST00000288065.2_Splice_Site Q5T9G4 CF081_HUMAN armadillo repeat containing 12 binding CCTGGCACAGGTGCCTGAGGA 0.572000 20 90 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38622503 38622503 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:38622503G>A ENST00000413689.1 - 17 3340 c.3147C>T c.(3145-3147)atC>atT p.I1049I SCN5A_ENST00000333535.4_Silent_p.I1049I|SCN5A_ENST00000423572.2_Silent_p.I1049I|SCN5A_ENST00000414099.2_Silent_p.I1049I|SCN5A_ENST00000455624.2_Silent_p.I1049I|SCN5A_ENST00000451551.2_Silent_p.I1049I|SCN5A_ENST00000450102.2_Silent_p.I1049I|SCN5A_ENST00000449557.2_Silent_p.I1049I|SCN5A_ENST00000425664.1_Silent_p.I1049I|SCN5A_ENST00000443581.1_Silent_p.I1049I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1049 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CGGCCACAGCGATGGGCACAC 0.637000 34 7 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145008885 145008885 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:145008885T>C ENST00000322810.4 - 10 1539 c.1370A>G c.(1369-1371)cAg>cGg p.Q457R PLEC_ENST00000356346.3_Missense_Mutation_p.Q306R|PLEC_ENST00000345136.3_Missense_Mutation_p.Q320R|PLEC_ENST00000398774.2_Missense_Mutation_p.Q288R|PLEC_ENST00000354589.3_Missense_Mutation_p.Q320R|PLEC_ENST00000527096.1_Missense_Mutation_p.Q343R|PLEC_ENST00000354958.2_Missense_Mutation_p.Q298R|PLEC_ENST00000357649.2_Missense_Mutation_p.Q324R|PLEC_ENST00000436759.2_Missense_Mutation_p.Q347R NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 457 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CTTCAGGAACTGAGACCACAG 0.632000 24 125 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13896227 13896227 + Silent SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:13896227G>T ENST00000285018.4 - 3 676 c.372C>A c.(370-372)acC>acA p.T124T NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 124 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 GGTTGCCCTGGGTACAGGCAG 0.647000 32 53 2.81731e-10 3.20533e-10 1 1 0 PLAGL1 5325 broad.mit.edu 37 6 144263510 144263510 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:144263510G>A ENST00000360537.2 - 5 2356 c.443C>T c.(442-444)cCt>cTt p.P148L PLAGL1_ENST00000437412.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000429150.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000367572.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000416623.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000367571.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000392307.1_Missense_Mutation_p.P96L|PLAGL1_ENST00000392309.1_Missense_Mutation_p.P148L|PLAGL1_ENST00000354765.2_Missense_Mutation_p.P148L|PLAGL1_ENST00000444202.1_Missense_Mutation_p.P148L Q9UM63 PLAL1_HUMAN pleiomorphic adenoma gene-like 1 148 cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2) 13 OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885) GGTTCCGCTAGGGGGCTTCTC 0.607000 OREG0017707 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 62 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ggaatggaatcgaatcgaatc 0.373000 3 5 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16307061 16307061 + Silent SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:16307061A>G ENST00000244769.4 - 9 2883 c.1947T>C c.(1945-1947)ccT>ccC p.P649P ATXN1_ENST00000436367.1_Silent_p.P649P NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 649 AXH.|Interaction with USP7.|RNA-binding. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) ACACAAAAAAAGGATACTCTA 0.458000 22 96 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230744733 230744733 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:230744733G>A ENST00000283943.5 - 2 241 c.63C>T c.(61-63)gcC>gcT p.A21A TRIP12_ENST00000409677.1_Silent_p.A21A|TRIP12_ENST00000389044.4_Silent_p.A21A|TRIP12_ENST00000389045.3_Silent_p.A21A|TRIP12_ENST00000543084.1_Silent_p.A21A NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 21 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GTTGGGCCCCGGCAGTGTTCC 0.453000 56 89 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92706187 92706187 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:92706187A>G ENST00000318445.6 + 10 2169 c.1955A>G c.(1954-1956)tAt>tGt p.Y652C SLCO3A1_ENST00000424469.2_Missense_Mutation_p.Y652C|SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA|RP11-24J19.1_ENST00000557683.1_RNA NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 652 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) AGGAAAAACTATAAACGCTAC 0.542000 32 39 0 0 1 0 0 AACSP1 729522 broad.mit.edu 37 5 178199531 178199531 + RNA SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:178199531C>T ENST00000503486.2 - 0 1004 NR_024035.1 GGCTGGAAGGCGTGCCCAGAG 0.587000 17 2 0 0 1 0 0 NTN5 126147 broad.mit.edu 37 19 49167847 49167847 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:49167847C>A ENST00000270235.4 - 3 904 c.809G>T c.(808-810)aGg>aTg p.R270M SEC1P_ENST00000430145.2_RNA NM_145807.1 NP_665806.1 Q8WTR8 NET5_HUMAN netrin 5 270 Laminin EGF-like 2. extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 10 TCTGCAGGCCCTGCGGCTGAA 0.672000 4 39 0.00909568 0.0092416 1 1 0 RUNDC3A 10900 broad.mit.edu 37 17 42390845 42390845 + Silent SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:42390845G>T ENST00000426726.3 + 4 706 c.432G>T c.(430-432)acG>acT p.T144T AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Silent_p.T144T|RUNDC3A_ENST00000590941.1_Silent_p.T139T NM_001144825.1 NP_001138297.1 Q59EK9 RUN3A_HUMAN RUN domain containing 3A 144 Interaction with RAP2A (By similarity).|RUN. small GTPase mediated signal transduction small GTPase regulator activity large_intestine(1)|lung(1)|ovary(2) 4 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) ACATCACCACGGCTCTGCGTG 0.567000 13 67 1.5739e-10 1.79784e-10 1 1 0 QKI 9444 broad.mit.edu 37 6 163984541 163984541 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:163984541C>T ENST00000361752.3 + 6 1275 c.724C>T c.(724-726)Cgt>Tgt p.R242C QKI_ENST00000453779.2_Missense_Mutation_p.R242C|QKI_ENST00000275262.7_Missense_Mutation_p.R242C|QKI_ENST00000392127.2_Missense_Mutation_p.R242C|QKI_ENST00000361195.2_Missense_Mutation_p.R234C|QKI_ENST00000424802.3_Missense_Mutation_p.R234C NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 242 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) AGCTGCCCTGCGTACTCCTAC 0.557000 19 62 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44907702 44907702 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:44907702C>T ENST00000261866.7 - 16 2913 c.2897G>A c.(2896-2898)cGt>cAt p.R966H SPG11_ENST00000535302.2_Missense_Mutation_p.R966H|SPG11_ENST00000427534.2_Missense_Mutation_p.R966H|SPG11_ENST00000558319.1_Missense_Mutation_p.R966H NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 966 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) ACCTCCAATACGGCTCAGTCT 0.403000 21 83 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26572134 26572134 + Missense_Mutation SNP T T G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:26572134T>G ENST00000381340.3 - 50 7374 c.6958A>C c.(6958-6960)Att>Ctt p.I2320L RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2320 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AGAAAAACAATTTTATTACAA 0.413000 20 63 0 0 1 0 0 DDX4 54514 broad.mit.edu 37 5 55110883 55110883 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:55110883T>C ENST00000505374.1 + 20 1962 c.1870T>C c.(1870-1872)Tat>Cat p.Y624H DDX4_ENST00000353507.5_Missense_Mutation_p.Y590H|DDX4_ENST00000511853.1_Missense_Mutation_p.Y475H|DDX4_ENST00000514278.2_Missense_Mutation_p.Y604H|DDX4_ENST00000354991.5_Missense_Mutation_p.Y590H NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 624 Helicase C-terminal. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) CATTGATGAATATGTTCATCG 0.418000 74 22 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 10 140 0.000442599 0.000465464 1 1 0 ZNF808 388558 broad.mit.edu 37 19 53058406 53058406 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:53058406A>G ENST00000359798.4 + 5 2417 c.2237A>G c.(2236-2238)cAg>cGg p.Q746R NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 746 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) ACGTTCAGTCAGAAGGCAACC 0.458000 31 267 0 0 1 0 0 COQ5 84274 broad.mit.edu 37 12 120942767 120942767 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:120942767C>T ENST00000288532.6 - 5 741 c.701G>A c.(700-702)cGg>cAg p.R234Q COQ5_ENST00000445328.2_Missense_Mutation_p.R160Q NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 234 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTTCAGCACCCGATGAGCTTC 0.478000 24 35 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30723592 30723592 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:30723592C>T ENST00000262518.4 + 13 2210 c.1825C>T c.(1825-1827)Ccc>Tcc p.P609S SRCAP_ENST00000395059.2_Missense_Mutation_p.P609S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P609S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 609 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GGTAAAGACGCCCATTCCCCT 0.498000 9 156 0 0 1 0 0 RTKN2 219790 broad.mit.edu 37 10 64000924 64000924 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:64000924G>A ENST00000373789.3 - 4 443 c.347C>T c.(346-348)tCt>tTt p.S116F RTKN2_ENST00000395265.1_Missense_Mutation_p.S116F|RTKN2_ENST00000395260.3_Missense_Mutation_p.S116F NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 116 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) GAAGTGATCAGAGTCTTTCCA 0.289000 4 31 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15514777 15514777 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:15514777C>T ENST00000281513.5 - 31 3683 c.3658G>A c.(3658-3660)Gtt>Att p.V1220I NBAS_ENST00000441750.1_Missense_Mutation_p.V1100I NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1220 p.V1220I(1) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AGACATCCAACGGCTTGGATA 0.378000 93 113 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235951474 235951474 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:235951474C>T ENST00000409212.1 + 4 2568 c.2061C>T c.(2059-2061)agC>agT p.S687S SH3BP4_ENST00000392011.2_Silent_p.S687S|SH3BP4_ENST00000344528.4_Silent_p.S687S Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 687 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CCCTGCTCAGCGAGGAGCGGG 0.612000 40 35 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1279559 1279559 + Splice_Site SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:1279559G>A ENST00000447027.1 + 43 16622 c.e43-1 MUC5B_ENST00000529681.1_Splice_Site Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TTTCCTTCCAGGACCTCAGCT 0.637000 6 45 0 0 1 0 0 GRB14 2888 broad.mit.edu 37 2 165378627 165378627 + Splice_Site SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:165378627T>C ENST00000263915.3 - 6 1217 c.678_splice c.e6-1 p.M227_splice GRB14_ENST00000543549.1_Splice_Site_p.M140_splice NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 227 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 CTCAGAAACATCTGAAAGAAA 0.269000 37 69 0 0 1 0 0 PLTP 5360 broad.mit.edu 37 20 44533677 44533677 + Silent SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:44533677C>A ENST00000477313.1 - 8 1380 c.786G>T c.(784-786)cgG>cgT p.R262R PLTP_ENST00000372420.1_Silent_p.R174R|PLTP_ENST00000372431.3_Silent_p.R262R|PLTP_ENST00000542937.1_Silent_p.R282R|PLTP_ENST00000354050.4_Silent_p.R210R|PLTP_ENST00000420868.2_Silent_p.R167R P55058 PLTP_HUMAN phospholipid transfer protein 262 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) CATACACCATCCGCTCTTCCT 0.627000 13 93 7.03913e-09 7.86726e-09 1 1 0 ZNF646 9726 broad.mit.edu 37 16 31094295 31094295 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:31094295C>T ENST00000300850.5 + 3 5670 c.5381C>T c.(5380-5382)gCc>gTc p.A1794V ZNF646_ENST00000394979.2_3'UTR NM_014699.3 NP_055514.3 O15015 ZN646_HUMAN zinc finger protein 646 1630 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CCCCCAGGAGCCCCAGTGGCA 0.692000 3 13 0 0 1 0 0 WDFY1 57590 broad.mit.edu 37 2 224777016 224777016 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:224777016T>C ENST00000233055.4 - 3 335 c.233A>G c.(232-234)cAt>cGt p.H78R NM_020830.3 NP_065881.1 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 78 cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2) 18 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) TCTGCTGTCATGATGGTAAGC 0.368000 5 88 0 0 1 0 0 JKAMP 51528 broad.mit.edu 37 14 59967980 59967980 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:59967980A>G ENST00000554271.1 + 6 1280 c.754A>G c.(754-756)Ata>Gta p.I252V RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000425728.2_Missense_Mutation_p.I232V|JKAMP_ENST00000356057.5_Missense_Mutation_p.I246V|JKAMP_ENST00000261247.9_Missense_Mutation_p.I238V Q9P055 JKAMP_HUMAN JNK1/MAPK8-associated membrane protein 253 ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding breast(1)|endometrium(1)|kidney(1)|lung(3) 6 TGCTTCTGAAATAGAGGTAGG 0.313000 27 35 0 0 1 0 0 PRMT2 3275 broad.mit.edu 37 21 48078707 48078707 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr21:48078707G>T ENST00000397637.1 + 7 1659 c.705G>T c.(703-705)aaG>aaT p.K235N PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000451211.2_Missense_Mutation_p.K235N|PRMT2_ENST00000397638.2_Missense_Mutation_p.K235N|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000355680.3_Missense_Mutation_p.K235N P55345 ANM2_HUMAN protein arginine methyltransferase 2 235 Interaction with ESR1. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) CCTGGCTGAAGGAGGACGGGG 0.562000 12 25 1.61879e-10 1.84542e-10 1 1 0 TTN 7273 broad.mit.edu 37 2 179604446 179604446 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:179604446T>C ENST00000589042.1 - 48 13738 c.13514A>G c.(13513-13515)gAa>gGa p.E4505G TTN_ENST00000460472.2_Missense_Mutation_p.E4142G|TTN_ENST00000342175.6_Missense_Mutation_p.E4334G|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4267G|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4188G|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4188 Ig-like 25. 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) ATCCATTTCTTCTTGCAAACT 0.378000 114 130 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9965527 9965527 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:9965527C>A ENST00000264833.4 - 6 885 c.700G>T c.(700-702)Gat>Tat p.D234Y OLFM2_ENST00000590841.1_Missense_Mutation_p.D156Y NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 234 Olfactomedin-like. extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 TAATAGCCATCCATGTACCAG 0.587000 3 16 2.56e-06 2.76888e-06 1 1 0 ANKDD1A 348094 broad.mit.edu 37 15 65226380 65226380 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:65226380G>T ENST00000380230.3 + 9 842 c.813G>T c.(811-813)gaG>gaT p.E271D ANKDD1A_ENST00000395723.1_Missense_Mutation_p.E180D|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.E271D|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.E271D NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 271 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 GTGGCTCGGAGGATGTGTCTC 0.527000 12 56 8.60227e-14 1.00891e-13 1 1 0 CBX2 84733 broad.mit.edu 37 17 77758304 77758304 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:77758304G>T ENST00000310942.4 + 5 1166 c.1062G>T c.(1060-1062)caG>caT p.Q354H NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 354 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TGAGCCTCCAGGTCTTGGACT 0.701000 13 29 0.00136819 0.00142312 1 1 0 PTEN 5728 broad.mit.edu 37 10 89720852 89720852 + Nonsense_Mutation SNP C C T rs121909231 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:89720852C>T ENST00000371953.3 + 8 2360 c.1003C>T c.(1003-1005)Cga>Tga p.R335* PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 335 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CAAAGCCAACCGATACTTTTC 0.333000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 69 21 0 0 1 0 0 SPINT2 10653 broad.mit.edu 37 19 38780887 38780887 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:38780887C>T ENST00000301244.7 + 5 955 c.520C>T c.(520-522)Cgc>Tgc p.R174C SPINT2_ENST00000454580.3_Missense_Mutation_p.R117C|SPINT2_ENST00000587090.1_Missense_Mutation_p.R124C|CTB-102L5.4_ENST00000591889.1_Silent_p.T51T NM_021102.3 NP_066925.1 O43291 SPIT2_HUMAN serine peptidase inhibitor, Kunitz type, 2 174 BPTI/Kunitz inhibitor 2. cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GAACAGCTACCGCTCTGAGGA 0.602000 6 34 0 0 1 0 0 AZI1 22994 broad.mit.edu 37 17 79182779 79182779 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:79182779C>A ENST00000269392.4 - 3 468 c.221G>T c.(220-222)aGa>aTa p.R74I AZI1_ENST00000575907.1_Missense_Mutation_p.R74I|AZI1_ENST00000374782.3_Missense_Mutation_p.R74I|AZI1_ENST00000450824.2_Missense_Mutation_p.R74I NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 74 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GTTGGATCTTCTAAGGTTGTT 0.587000 13 14 1.05317e-09 1.18873e-09 1 1 0 IGHV3-43 28426 broad.mit.edu 37 14 106926491 106926491 + RNA SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:106926491G>A ENST00000434710.1 - 0 130 CTTCACACTGGACACCTGCAA 0.517000 54 332 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19389133 19389133 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chrX:19389133G>A ENST00000338883.4 - 24 3343 c.3344C>T c.(3343-3345)gCg>gTg p.A1115V MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.A550V|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A947V NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1115 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GTTGTCCATCGCGAACATCCA 0.433000 12 51 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5074001 5074001 + Missense_Mutation SNP C C T rs146195872 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:5074001C>T ENST00000574788.1 + 36 5975 c.3745C>T c.(3745-3747)Cgg>Tgg p.R1249W USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R932W|USP6_ENST00000250066.6_Missense_Mutation_p.R1249W P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 1249 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AGGGCATATGCGGGGGGGCAG 0.542000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 18 54 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17316491 17316491 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:17316491T>C ENST00000452699.1 - 22 2594 c.2405A>G c.(2404-2406)gAc>gGc p.D802G ATP13A2_ENST00000341676.5_Intron|ATP13A2_ENST00000326735.8_Missense_Mutation_p.D807G|RP1-37C10.3_ENST00000446261.1_RNA NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 807 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) TGCAGCCTGGTCAGGATCCTG 0.647000 13 2 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62747316 62747316 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:62747316G>A ENST00000377871.3 - 7 1408 c.1142C>T c.(1141-1143)gCc>gTc p.A381V SLC22A6_ENST00000458333.2_Missense_Mutation_p.A381V|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A381V|SLC22A6_ENST00000421062.2_Missense_Mutation_p.A381V NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 381 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CACAAGCTTGGCAGGCAGGTC 0.582000 37 32 0 0 1 0 0 KRI1 65095 broad.mit.edu 37 19 10671086 10671086 + Silent SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:10671086A>G ENST00000312962.6 - 9 739 c.720T>C c.(718-720)gaT>gaC p.D240D KRI1_ENST00000361821.5_Silent_p.D236D NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 240 Glu-rich. NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GCTCCCCTTCATCCAACTCAG 0.552000 10 140 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81297536 81297536 + Missense_Mutation SNP C C T rs142727794 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:81297536C>T ENST00000555265.1 - 13 1535 c.1160G>A c.(1159-1161)tGc>tAc p.C387Y CEP128_ENST00000216517.6_Missense_Mutation_p.C387Y|CEP128_ENST00000281129.3_Missense_Mutation_p.C387Y Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 387 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TCTCTCCATGCACCGTTTCAC 0.408000 6 182 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110883949 110883949 + Missense_Mutation SNP A A T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:110883949A>T ENST00000369784.3 + 1 2822 c.1922A>T c.(1921-1923)aAg>aTg p.K641M RBM15_ENST00000487146.2_Missense_Mutation_p.K641M|RBM15_ENST00000602849.1_Missense_Mutation_p.K641M NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 641 Arg-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CAGCCTAGGAAGCGAAGGCTG 0.597000 T MKL1 acute megakaryocytic leukemia 10 41 0 0 1 0 0 TSPAN8 7103 broad.mit.edu 37 12 71523156 71523156 + Missense_Mutation SNP A A T rs139952436 by1000genomes TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:71523156A>T ENST00000393330.2 - 11 1167 c.615T>A c.(613-615)aaT>aaA p.N205K TSPAN8_ENST00000552128.1_Missense_Mutation_p.N122K|TSPAN8_ENST00000546561.1_Missense_Mutation_p.N205K|TSPAN8_ENST00000247829.3_Missense_Mutation_p.N205K P19075 TSN8_HUMAN tetraspanin 8 205 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) CTATAATCAAATTTTTTGCCA 0.269000 9 47 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48922549 48922549 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:48922549C>T ENST00000263269.3 + 8 1882 c.1794C>T c.(1792-1794)gcC>gcT p.A598A NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 598 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CTGTGGTCGCCGTCACTGTTT 0.602000 4 60 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62996938 62996938 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:62996938C>A ENST00000306494.6 - 1 186 c.187G>T c.(187-189)Gac>Tac p.D63Y SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 63 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 GTCCCAGGGTCATTGTCAGGG 0.502000 35 73 5.8336e-16 6.98562e-16 1 1 0 PCDHB3 56132 broad.mit.edu 37 5 140482612 140482612 + Silent SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:140482612T>C ENST00000231130.2 + 1 2379 c.2379T>C c.(2377-2379)ttT>ttC p.F793F NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 793 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAAGAGCTTTGAATTCAGTT 0.428000 44 55 0 0 1 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22779092 22779092 + RNA SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:22779092C>T ENST00000600260.1 + 0 34 NR_033899.1 CACAGCTGCGCGGTGGCAGAC 0.607000 6 5 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83711849 83711849 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:83711849C>T ENST00000566620.1 + 10 1611 c.1321C>T c.(1321-1323)Ctg>Ttg p.L441L CDH13_ENST00000268613.10_Silent_p.L488L|CDH13_ENST00000428848.3_Silent_p.L402L NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 441 Cadherin 3. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CCACACCCTGCTGATCAAAGT 0.542000 27 37 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56246910 56246910 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr18:56246910G>A ENST00000361673.3 - 4 1311 c.1098C>T c.(1096-1098)ttC>ttT p.F366F NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 366 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 AATGCTCACCGAATTCCATCT 0.512000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 35 0 0 1 0 0 USP47 55031 broad.mit.edu 37 11 11964389 11964389 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:11964389A>G ENST00000339865.5 + 19 3380 c.2617A>G c.(2617-2619)Att>Gtt p.I873V USP47_ENST00000399455.2_Missense_Mutation_p.I961V|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.I941V NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 961 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) GGACAGTGATATTCTTAGCTC 0.408000 9 137 0 0 1 0 0 HCRT 3060 broad.mit.edu 37 17 40336494 40336494 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:40336494G>A ENST00000293330.1 - 2 160 c.74C>T c.(73-75)gCg>gTg p.A25V NM_001524.1 NP_001515.1 O43612 OREX_HUMAN hypocretin (orexin) neuropeptide precursor 25 neuropeptide signaling pathway cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle breast(1)|central_nervous_system(1) 2 all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069) BRCA - Breast invasive adenocarcinoma(366;0.124) CGACAACAGCGCGGgcggcag 0.701000 12 13 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104054933 104054933 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:104054933C>T ENST00000265148.3 - 41 6728 c.6639G>A c.(6637-6639)caG>caA p.Q2213Q CENPE_ENST00000380026.3_Silent_p.Q2092Q NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2213 Kinetochore-binding domain. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) GTTGAAGGTGCTGTATTTTAA 0.284000 30 12 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75266069 75266069 + Nonsense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:75266069C>T ENST00000325680.7 + 5 4193 c.4069C>T c.(4069-4071)Cga>Tga p.R1357* YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R1162* NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck p.R1357*(1)|p.R1162*(1) breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AGAAAGAAATCGAGAGCATGG 0.473000 18 186 0 0 1 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54682246 54682246 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:54682246C>T ENST00000355221.3 - 10 1612 c.1053G>A c.(1051-1053)gtG>gtA p.V351V ATP6V1H_ENST00000523899.1_5'UTR|ATP6V1H_ENST00000520188.1_Silent_p.V329V|ATP6V1H_ENST00000359530.2_Silent_p.V369V|ATP6V1H_ENST00000396774.2_Silent_p.V369V NM_213619.2 NP_998784.1 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H 369 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) CAGATTTGTGCACAGGACTCC 0.313000 5 100 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157528599 157528599 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:157528599G>T ENST00000346085.5 + 20 6325 c.6324G>T c.(6322-6324)caG>caT p.Q2108H ARID1B_ENST00000350026.5_Missense_Mutation_p.Q2095H|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2090H|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2148H NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 2095 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TTAGTCGTCAGGAGAAATTCT 0.488000 36 419 3.03874e-20 3.68528e-20 1 1 0 ALDH6A1 4329 broad.mit.edu 37 14 74535660 74535660 + Missense_Mutation SNP G G T rs139579994 byFrequency TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:74535660G>T ENST00000553458.1 - 7 853 c.755C>A c.(754-756)cCg>cAg p.P252Q ALDH6A1_ENST00000350259.4_Missense_Mutation_p.P239Q|ALDH6A1_ENST00000555126.1_5'UTR|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA NM_001278593.1|NM_005589.2 NP_001265522.1|NP_005580.1 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6 family, member A1 252 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3) 21 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) TTTGATGTCCGGATGATCGCA 0.418000 4 70 0.00909568 0.0092416 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144915504 144915504 + Missense_Mutation SNP G G C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:144915504G>C ENST00000529945.1 - 10 2849 c.2410C>G c.(2410-2412)Cat>Gat p.H804D PDE4DIP_ENST00000479408.2_Missense_Mutation_p.H428D|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.H804D|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H641D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H778D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H778D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H707D Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 641 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCCATTTCATGTTCCAGCACT 0.488000 T PDGFRB MPD 18 295 0 0 1 0 0 ALG10 84920 broad.mit.edu 37 12 34179005 34179005 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:34179005G>A ENST00000266483.2 + 3 896 c.577G>A c.(577-579)Gct>Act p.A193T ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 193 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) TATCATCTGGGCTGTCTTCTG 0.398000 5 304 0 0 1 0 0 MESDC1 59274 broad.mit.edu 37 15 81295526 81295526 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:81295526G>A ENST00000267984.2 + 1 2232 c.914G>A c.(913-915)tGc>tAc p.C305Y NM_022566.2 NP_072088.1 Q9H1K6 MESD1_HUMAN mesoderm development candidate 1 305 endometrium(1)|lung(2) 3 CTGACCCAGTGCCTCAGGGAT 0.711000 6 9 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50139893 50139893 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:50139893G>T ENST00000371564.3 - 2 1106 c.887C>A c.(886-888)cCt>cAt p.P296H NFATC2_ENST00000414705.1_Missense_Mutation_p.P276H|NFATC2_ENST00000396009.3_Missense_Mutation_p.P296H NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 296 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GCCAGCCACAGGGGGGTACCC 0.706000 13 39 7.93312e-07 8.62954e-07 1 1 0 ZNF384 171017 broad.mit.edu 37 12 6781536 6781536 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:6781536G>A ENST00000396801.3 - 8 1281 c.1074C>T c.(1072-1074)tcC>tcT p.S358S ZNF384_ENST00000396795.1_Intron|ZNF384_ENST00000361959.3_Silent_p.S358S|ZNF384_ENST00000396799.2_Intron|ZNF384_ENST00000319770.3_Intron|ZNF384_ENST00000355772.4_Intron NM_001135734.2 NP_001129206.1 Q8TF68 ZN384_HUMAN zinc finger protein 384 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 GCTGGAGGTGGGAGAGCTGGC 0.667000 T """EWSR1, TAF15 """ ALL 22 28 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345817 33345817 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:33345817G>T ENST00000374796.2 - 8 3304 c.734C>A c.(733-735)cCt>cAt p.P245H NCOA6_ENST00000359003.2_Missense_Mutation_p.P245H Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 245 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CACAGAGACAGGCTGCATTGG 0.507000 5 154 0.00116845 0.00121758 1 1 0 ZNF821 55565 broad.mit.edu 37 16 71894095 71894095 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:71894095C>T ENST00000425432.1 - 8 1444 c.1065G>A c.(1063-1065)agG>agA p.R355R RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000446827.2_Silent_p.R313R|ZNF821_ENST00000313565.6_Silent_p.R313R|ZNF821_ENST00000565601.1_Silent_p.R355R|RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000564134.1_3'UTR NM_001201552.1 NP_001188481.1 O75541 ZN821_HUMAN zinc finger protein 821 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2) 13 TTTTCTCCAGCCTCCTCTTGA 0.587000 25 78 0 0 1 0 0 DCAF4 26094 broad.mit.edu 37 14 73408516 73408516 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:73408516G>A ENST00000553457.1 + 4 405 c.115G>A c.(115-117)Gtc>Atc p.V39I DCAF4_ENST00000555042.1_Missense_Mutation_p.V139I|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000394234.2_Missense_Mutation_p.V39I|DCAF4_ENST00000358377.2_Missense_Mutation_p.V139I|DCAF4_ENST00000353777.3_Intron Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 139 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 TTTTCTCAACGTCACCAATTA 0.358000 33 184 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13071733 13071733 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:13071733A>G ENST00000399002.2 + 5 884 c.610A>G c.(610-612)Acc>Gcc p.T204A SPTLC3_ENST00000378194.4_Missense_Mutation_p.T204A NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 204 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) ATGTGCAGGCACCTTGGATAA 0.428000 42 176 0 0 1 0 0 PLSCR2 57047 broad.mit.edu 37 3 146177679 146177679 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:146177679G>A ENST00000497985.1 - 4 671 c.232C>T c.(232-234)Cca>Tca p.P78S PLSCR2_ENST00000336685.2_Missense_Mutation_p.P5S NM_001199978.1 NP_001186907.1 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 5 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 AATGGTGGTGGTGGTGCTGGC 0.443000 24 66 0 0 1 0 0 TUBE1 51175 broad.mit.edu 37 6 112395985 112395985 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:112395985G>A ENST00000368662.5 - 9 959 c.881C>T c.(880-882)cCt>cTt p.P294L TUBE1_ENST00000604814.1_5'UTR NM_016262.4 NP_057346.1 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 294 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 12 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) ATGAAGTTGAGGAAAAGGAAC 0.333000 26 58 0 0 1 0 0 TPM2 7169 broad.mit.edu 37 9 35689769 35689769 + Missense_Mutation SNP C C G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:35689769C>G ENST00000378292.3 - 1 1248 c.46G>C c.(46-48)Gag>Cag p.E16Q TPM2_ENST00000378300.5_Missense_Mutation_p.E16Q|TPM2_ENST00000329305.2_Missense_Mutation_p.E16Q|TPM2_ENST00000360958.2_Missense_Mutation_p.E16Q NM_213674.1 NP_998839.1 P07951 TPM2_HUMAN tropomyosin 2 (beta) 16 muscle filament sliding|regulation of ATPase activity cytosol|muscle thin filament tropomyosin actin binding|structural constituent of muscle NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ATGGCGTTCTCCTTGTCCAGC 0.672000 137 52 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73479974 73479974 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:73479974C>T ENST00000523207.1 + 2 593 c.5C>T c.(4-6)gCa>gTa p.A2V NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 2 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) TTCAAAATGGCAGAAAAGGCT 0.512000 27 120 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50026874 50026874 + Nonsense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:50026874G>A ENST00000261897.1 + 6 893 c.342G>A c.(340-342)tgG>tgA p.W114* PRPF40B_ENST00000548825.2_Nonsense_Mutation_p.W142*|PRPF40B_ENST00000380281.1_Nonsense_Mutation_p.W120* Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 120 WW 1. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 AGTCCGTGTGGGAGAAGCCCA 0.617000 5 18 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11515122 11515122 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:11515122A>G ENST00000579828.1 + 4 958 c.929A>G c.(928-930)cAa>cGa p.Q310R DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000262442.3_Intron|DNAH9_ENST00000579406.1_Intron Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 0 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTGTTTTCACAAATGTGTTTG 0.453000 4 115 0 0 1 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53943802 53943802 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:53943802A>G ENST00000263634.3 - 6 817 c.683T>C c.(682-684)gTg>gCg p.V228A GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.V155A|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.V266A|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.V263A|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.V155A NM_016115.4 NP_057199.1 Q2TAI4 Q2TAI4_HUMAN 263 intracellular signal transduction CAAAAGCTCCACACATTTTGT 0.443000 4 128 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197094316 197094316 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:197094316G>A ENST00000367409.4 - 11 3198 c.2942C>T c.(2941-2943)aCc>aTc p.T981I ASPM_ENST00000294732.7_Missense_Mutation_p.T981I|ASPM_ENST00000367408.1_Missense_Mutation_p.T231I NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 981 CH 1. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 AAGTTCCATGGTTCGCCTGGC 0.368000 19 103 0 0 1 0 0 R3HDM2 22864 broad.mit.edu 37 12 57648753 57648753 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:57648753C>A ENST00000402412.1 - 24 3166 c.2776G>T c.(2776-2778)Ggg>Tgg p.G926W R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000403821.2_Missense_Mutation_p.G946W|R3HDM2_ENST00000393811.2_Missense_Mutation_p.G639W|R3HDM2_ENST00000358907.2_Missense_Mutation_p.G912W|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.G607W|R3HDM2_ENST00000347140.3_Missense_Mutation_p.G912W Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 912 nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 CTGTTGTCCCCCCCACCCCCT 0.632000 17 65 1.15088e-07 1.26397e-07 1 1 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15323555 15323555 + RNA SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr21:15323555T>C ENST00000344693.5 - 0 847 NR_027270.1 TTAATTACCTTCAAGGAAGGA 0.323000 53 264 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128640604 128640604 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:128640604C>T ENST00000393245.1 - 7 1263 c.890G>A c.(889-891)cGt>cAt p.R297H TNPO3_ENST00000482320.1_Missense_Mutation_p.R231H|TNPO3_ENST00000265388.5_Missense_Mutation_p.R297H|TNPO3_ENST00000471234.1_Missense_Mutation_p.R297H|TNPO3_ENST00000471166.1_Missense_Mutation_p.R297H NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 297 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 AGTGAAAATACGGCAGTAATT 0.378000 25 60 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 907526 907526 + Silent SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:907526T>C ENST00000379409.2 + 8 1047 c.1017T>C c.(1015-1017)atT>atC p.I339I PLEKHN1_ENST00000379407.2_Silent_p.I299I|PLEKHN1_ENST00000379410.3_Silent_p.I287I Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 339 PH 2. central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CCTTCCTGATTGAAGGTAGGG 0.667000 18 47 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49671906 49671906 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:49671906G>T ENST00000252826.5 + 6 835 c.709G>T c.(709-711)Gac>Tac p.D237Y TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.D237Y NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 237 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) CCTGGTGGACGACGGCACACA 0.652000 22 16 2.37509e-13 2.77988e-13 1 1 0 MKNK2 2872 broad.mit.edu 37 19 2037829 2037829 + Splice_Site SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:2037829C>A ENST00000309340.7 - 14 1379 c.e14-1 MKNK2_ENST00000591601.1_3'UTR|MKNK2_ENST00000591142.1_Splice_Site|MKNK2_ENST00000250896.3_3'UTR NM_017572.3 NP_060042.2 Q9HBH9 MKNK2_HUMAN MAP kinase interacting serine/threonine kinase 2 cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(3)|large_intestine(3)|lung(3) 10 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACTGTCCCACCTTCAGAAAAA 0.542000 13 12 5.01169e-05 5.37978e-05 1 1 0 IL17B 27190 broad.mit.edu 37 5 148756445 148756445 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:148756445C>T ENST00000261796.3 - 2 215 c.165G>A c.(163-165)ccG>ccA p.P55P IL17B_ENST00000505432.1_5'UTR NM_014443.2 NP_055258.1 Q9UHF5 IL17B_HUMAN interleukin 17B 55 cell-cell signaling|immune response|inflammatory response extracellular space cytokine activity|signal transducer activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGGGCATACGGTTTCATCC 0.622000 54 17 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18964096 18964096 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:18964096C>T ENST00000262803.5 + 8 1365 c.1093C>T c.(1093-1095)Cgg>Tgg p.R365W UPF1_ENST00000599848.1_Missense_Mutation_p.R376W NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 376 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 GATATGCCTGCGGTACAAAGG 0.567000 20 72 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3212126 3212126 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:3212126G>A ENST00000380059.3 - 8 1028 c.927C>T c.(925-927)cgC>cgT p.R309R SLC4A11_ENST00000380056.3_Silent_p.R282R|SLC4A11_ENST00000539553.1_Silent_p.R266R|SLC4A11_ENST00000474451.1_5'UTR NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 282 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GGAGCTTCTGGCGGAAGGCGA 0.592000 48 97 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17309065 17309065 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:17309065G>A ENST00000595618.1 + 24 4338 c.4186G>A c.(4186-4188)Gca>Aca p.A1396T MYO9B_ENST00000397274.2_Missense_Mutation_p.A1396T|MYO9B_ENST00000594824.1_Missense_Mutation_p.A1396T NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1396 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GCCAGGCGACGCATCCTCCCT 0.622000 9 61 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39870622 39870622 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:39870622A>G ENST00000314471.6 + 12 2582 c.1547A>G c.(1546-1548)cAg>cGg p.Q516R SAMD4B_ENST00000598913.1_Missense_Mutation_p.Q516R|SAMD4B_ENST00000596368.1_Intron NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 516 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) ACGGAGACGCAGAAGAAACGG 0.527000 16 14 0 0 1 0 0 OGFR 11054 broad.mit.edu 37 20 61443806 61443806 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:61443806C>T ENST00000370461.1 + 5 2960 c.683C>T c.(682-684)cCc>cTc p.P228L OGFR_ENST00000370468.3_Missense_Mutation_p.P280L|OGFR_ENST00000290291.6_Missense_Mutation_p.P280L Q9NZT2 OGFR_HUMAN opioid growth factor receptor 280 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) CACTTCCGGCCCCGCTGCAAG 0.677000 3 12 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35615073 35615073 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr13:35615073G>A ENST00000540320.1 + 2 832 c.298G>A c.(298-300)Gtt>Att p.V100I NBEA_ENST00000310336.4_Missense_Mutation_p.V100I|NBEA_ENST00000400445.3_Missense_Mutation_p.V100I|NBEA_ENST00000379939.2_Missense_Mutation_p.V100I Q8NFP9 NBEA_HUMAN neurobeachin 100 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTTTCAGCTGGTTGGTGGAGA 0.358000 9 102 0 0 1 0 0 LGMN 5641 broad.mit.edu 37 14 93185102 93185102 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:93185102A>G ENST00000393218.2 - 4 563 c.226T>C c.(226-228)Tac>Cac p.Y76H LGMN_ENST00000334869.4_Missense_Mutation_p.Y76H|LGMN_ENST00000555699.1_Missense_Mutation_p.Y76H|LGMN_ENST00000557434.1_Missense_Mutation_p.Y76H NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 76 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) TCTTCAGAGTAAGCAATGTCA 0.473000 32 158 0 0 1 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29848958 29848958 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:29848958C>T ENST00000325874.8 + 6 1013 c.784C>T c.(784-786)Cgg>Tgg p.R262W RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.R160W NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 262 Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding p.R262W(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) TAGGAAAATGCGGCACGTGTA 0.502000 12 58 0 0 1 0 0 CLSPN 63967 broad.mit.edu 37 1 36228057 36228057 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:36228057C>A ENST00000251195.5 - 5 866 c.770G>T c.(769-771)gGg>gTg p.G257V CLSPN_ENST00000520551.1_Missense_Mutation_p.G257V|CLSPN_ENST00000373220.3_Missense_Mutation_p.G257V|CLSPN_ENST00000318121.3_Missense_Mutation_p.G257V Q9HAW4 CLSPN_HUMAN claspin 257 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGAATGGACCCCACTCTCCAA 0.393000 22 56 1.10513e-12 1.29083e-12 1 1 0 SLC34A1 6569 broad.mit.edu 37 5 176824887 176824887 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:176824887G>A ENST00000324417.5 + 13 1611 c.1520G>A c.(1519-1521)cGc>cAc p.R507H SLC34A1_ENST00000513614.1_3'UTR NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 507 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGGAAACGCACGGCCAAG 0.607000 35 43 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4788779 4788779 + Splice_Site SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:4788779G>A ENST00000355280.6 + 7 706 c.508_splice c.e7-1 p.V170_splice MINK1_ENST00000453408.3_Splice_Site_p.V170_splice|MINK1_ENST00000347992.7_Splice_Site_p.V170_splice NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 170 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 TCTTCACAGTGGATTTTGGGG 0.592000 7 89 0 0 1 0 0 MASP2 10747 broad.mit.edu 37 1 11090928 11090928 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:11090928C>T ENST00000400897.3 - 9 1114 c.1099G>A c.(1099-1101)Ggc>Agc p.G367S NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan-binding lectin serine peptidase 2 367 Sushi 2. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) TCAGGAGGGCCACAGTCAACA 0.498000 11 33 0 0 1 0 0 IWS1 55677 broad.mit.edu 37 2 128261070 128261070 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:128261070C>A ENST00000295321.4 - 4 1561 c.1302G>T c.(1300-1302)aaG>aaT p.K434N IWS1_ENST00000455721.2_Missense_Mutation_p.K441N|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 434 Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) ATGCTATGGTCTTCTCTCTTT 0.428000 47 72 1.06522e-23 1.30016e-23 1 1 0 PAPD7 11044 broad.mit.edu 37 5 6737711 6737711 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:6737711G>A ENST00000230859.6 + 2 184 c.55G>A c.(55-57)Gaa>Aaa p.E19K NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 19 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding p.E19K(1) cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GAAACGGATCGAAACTGTGGT 0.433000 26 34 0 0 1 0 0 CTIF 9811 broad.mit.edu 37 18 46385823 46385823 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr18:46385823C>T ENST00000256413.3 + 12 1985 c.1690C>T c.(1690-1692)Cgg>Tgg p.R564W CTIF_ENST00000382998.4_Missense_Mutation_p.R566W NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 564 MIF4G. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 CATGCTGACCCGGTCGCTGCT 0.602000 23 82 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65272474 65272474 + RNA SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:65272474C>T ENST00000534336.1 + 0 7242 NR_002819.2 CACCAGTGGACAAAATGAGGA 0.368000 8 26 0 0 1 0 0 SGSM3 27352 broad.mit.edu 37 22 40802507 40802507 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr22:40802507G>A ENST00000248929.9 + 10 1215 c.1026G>A c.(1024-1026)tcG>tcA p.S342S SGSM3_ENST00000454798.2_Silent_p.S275S NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 342 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 ATATCCCGTCGCAGATGGAGG 0.642000 11 28 0 0 1 0 0 KRI1 65095 broad.mit.edu 37 19 10673446 10673446 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:10673446G>A ENST00000312962.6 - 4 379 c.360C>T c.(358-360)taC>taT p.Y120Y KRI1_ENST00000361821.5_Silent_p.Y116Y|KRI1_ENST00000537964.1_Intron NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 120 Glu-rich. NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) AGTCCTTCAGGTACATGGGCC 0.562000 45 137 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170031767 170031767 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:170031767C>T ENST00000263816.3 - 55 10989 c.10704G>A c.(10702-10704)ccG>ccA p.P3568P NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3568 LDL-receptor class A 27. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATAAAGTCTGCGGGCTGGTGC 0.527000 8 84 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131476934 131476934 + Silent SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:131476934C>A ENST00000261654.5 + 8 1522 c.963C>A c.(961-963)acC>acA p.T321T GPR133_ENST00000535015.1_Silent_p.T353T|RP11-76C10.5_ENST00000542980.1_lincRNA NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 321 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TGAATCTCACCAAGGTAAGGC 0.483000 18 136 3.32936e-07 3.62856e-07 1 1 0 KCNAB2 8514 broad.mit.edu 37 1 6101896 6101896 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:6101896G>T ENST00000164247.1 + 3 647 c.83G>T c.(82-84)cGg>cTg p.R28L KCNAB2_ENST00000378097.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000602612.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000378111.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000378087.3_Missense_Mutation_p.R28L|KCNAB2_ENST00000352527.1_Intron|KCNAB2_ENST00000341524.1_Missense_Mutation_p.R28L|KCNAB2_ENST00000378092.1_Intron NM_001199860.1 NP_001186789.1 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 2 28 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity large_intestine(1)|lung(4)|skin(3) 8 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) CGAAGTACTCGGTATGGGAGT 0.517000 OREG0013028 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 106 4.3949e-29 5.44585e-29 1 1 0 PARD3B 117583 broad.mit.edu 37 2 205829956 205829956 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:205829956G>T ENST00000406610.2 + 3 511 c.304G>T c.(304-306)Gat>Tat p.D102Y PARD3B_ENST00000462231.1_Missense_Mutation_p.D102Y|PARD3B_ENST00000349953.3_Missense_Mutation_p.D102Y|PARD3B_ENST00000351153.1_Missense_Mutation_p.D102Y|PARD3B_ENST00000358768.2_Missense_Mutation_p.D102Y NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 102 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GCAGAGCCCAGATGCTTTTGA 0.478000 19 49 9.95505e-16 1.1896e-15 1 1 0 SETX 23064 broad.mit.edu 37 9 135210036 135210036 + Missense_Mutation SNP A A T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:135210036A>T ENST00000372169.2 - 7 979 c.797T>A c.(796-798)tTt>tAt p.F266Y SETX_ENST00000393220.1_Missense_Mutation_p.F266Y|SETX_ENST00000224140.5_Missense_Mutation_p.F266Y Q7Z333 SETX_HUMAN senataxin 266 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CGATTGCATAAAATCATTTTG 0.363000 22 42 0 0 1 0 0 BRIP1 83990 broad.mit.edu 37 17 59885956 59885956 + Missense_Mutation SNP G G A rs28997569 byFrequency TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:59885956G>A ENST00000259008.2 - 7 1057 c.790C>T c.(790-792)Cgg>Tgg p.R264W BRIP1_ENST00000577598.1_Missense_Mutation_p.R264W NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 264 Helicase ATP-binding. R -> W (rare polymorphism; dbSNP:rs28997569). DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 GCCGTCCTCCGGAGCTCTCTA 0.433000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 33 109 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27121417 27121417 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:27121417T>C ENST00000288699.6 + 2 208 c.50T>C c.(49-51)gTg>gCg p.V17A DPYSL5_ENST00000401478.1_Missense_Mutation_p.V17A NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 17 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGGCAAGGTGGTGAACGAT 0.567000 15 158 0 0 1 0 0 STC2 8614 broad.mit.edu 37 5 172745210 172745210 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:172745210C>A ENST00000265087.4 - 4 1858 c.549G>T c.(547-549)gaG>gaT p.E183D STC2_ENST00000520593.1_5'UTR NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 183 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CCTTCACCTCCTCCCCACAGG 0.557000 23 4 5.45024e-15 6.4587e-15 1 1 0 ZNF480 147657 broad.mit.edu 37 19 52825659 52825659 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:52825659C>A ENST00000595962.1 + 5 1222 c.1156C>A c.(1156-1158)Cta>Ata p.L386I CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.L309I|ZNF480_ENST00000334564.7_Missense_Mutation_p.L343I NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) AAATTCGCACCTAGCACAACA 0.358000 20 78 1.01871e-10 1.16834e-10 1 1 0 WBP11 51729 broad.mit.edu 37 12 14947541 14947541 + Silent SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:14947541A>G ENST00000261167.2 - 7 884 c.651T>C c.(649-651)cgT>cgC p.R217R WBP11_ENST00000537574.1_Silent_p.R217R NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 217 Interaction with PP1 (By similarity). mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 AACCCACTTTACGGCCATACA 0.507000 60 245 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101215218 101215218 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:101215218C>T ENST00000369162.2 - 9 1743 c.1399G>A c.(1399-1401)Gga>Aga p.G467R ASCC3_ENST00000522650.1_Missense_Mutation_p.G467R NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding p.G467*(1) breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GCCAGCTGTCCGATCTAAAAA 0.348000 53 61 0 0 1 0 0 RCE1 9986 broad.mit.edu 37 11 66613501 66613501 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:66613501G>A ENST00000309657.3 + 8 969 c.925G>A c.(925-927)Ggc>Agc p.G309S RCE1_ENST00000524506.1_Missense_Mutation_p.G288S|RCE1_ENST00000525356.1_Missense_Mutation_p.G186S NM_001032279.1|NM_005133.2 NP_001027450.1|NP_005124.1 Q9Y256 FACE2_HUMAN Ras converting CAAX endopeptidase 1 309 proteolysis endoplasmic reticulum membrane|integral to plasma membrane metalloendopeptidase activity breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 CAAGCTCTACGGCAGCCTTCC 0.632000 31 96 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63491964 63491964 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr18:63491964C>T ENST00000536984.2 + 6 1572 c.878C>T c.(877-879)gCt>gTt p.A293V CDH7_ENST00000323011.3_Missense_Mutation_p.A293V|CDH7_ENST00000397968.2_Missense_Mutation_p.A293V Q9ULB5 CADH7_HUMAN cadherin 7, type 2 293 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GATATTGGAGCTAATGCTGAA 0.403000 34 87 0 0 1 0 0 CASKIN1 57524 broad.mit.edu 37 16 2231476 2231476 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:2231476G>A ENST00000343516.6 - 18 1985 c.1893C>T c.(1891-1893)atC>atT p.I631I NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 631 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 GCGGCGACTCGATGGCCATCA 0.647000 14 20 0 0 1 0 0 TALDO1 6888 broad.mit.edu 37 11 763813 763813 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:763813G>A ENST00000319006.3 + 6 857 c.704G>A c.(703-705)gGc>gAc p.G235D TALDO1_ENST00000528097.1_Missense_Mutation_p.G235D P37837 TALDO_HUMAN transaldolase 1 235 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2) 14 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) ATTGTCATGGGCGCCTCCTTC 0.527000 7 381 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71197533 71197533 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:71197533C>T ENST00000554752.2 - 12 2878 c.2879G>A c.(2878-2880)cGt>cAt p.R960H MAP3K9_ENST00000555993.2_Missense_Mutation_p.R974H|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R693H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R937H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R688H P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 960 Pro-rich. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GTCAGGGAGACGGGGGAATTC 0.552000 16 15 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25341481 25341481 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr13:25341481A>G ENST00000255324.5 + 2 254 c.202A>G c.(202-204)Aca>Gca p.T68A RNF17_ENST00000381921.1_Missense_Mutation_p.T68A|RNF17_ENST00000255325.5_Missense_Mutation_p.T68A|RNF17_ENST00000255326.4_3'UTR NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 68 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AGAATGCACCACAATTATATG 0.303000 52 45 0 0 1 0 0 C12orf4 57102 broad.mit.edu 37 12 4645271 4645271 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:4645271C>T ENST00000261250.3 - 2 177 c.90G>A c.(88-90)gtG>gtA p.V30V C12orf4_ENST00000545746.1_Silent_p.V30V NM_020374.2 NP_065107.1 Q9NQ89 CL004_HUMAN chromosome 12 open reading frame 4 30 NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) ATTTGAGTGGCACTCTCAGTT 0.378000 5 105 0 0 1 0 0 NFKBIB 4793 broad.mit.edu 37 19 39398083 39398083 + Silent SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:39398083C>A ENST00000392079.3 + 5 755 c.657C>A c.(655-657)gcC>gcA p.A219A NFKBIB_ENST00000572515.1_Silent_p.A251A|NFKBIB_ENST00000313582.5_Silent_p.A251A Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 251 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CAGTGGAGGCCCAGGCAGCCG 0.692000 54 75 6.20943e-19 7.49868e-19 1 1 0 HCN1 348980 broad.mit.edu 37 5 45303767 45303767 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:45303767C>A ENST00000303230.4 - 6 1609 c.1552G>T c.(1552-1554)Ggt>Tgt p.G518C NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 518 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.G518S(1)|p.G518C(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CCAGCAACACCGTGTTGAATG 0.388000 33 115 1.22384e-17 1.47481e-17 1 1 0 SORBS3 10174 broad.mit.edu 37 8 22432192 22432192 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:22432192G>T ENST00000240123.7 + 21 2350 c.1967G>T c.(1966-1968)aGg>aTg p.R656M SORBS3_ENST00000428103.1_Missense_Mutation_p.R314M NM_005775.4 NP_005766.3 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 656 Binds to SOS.|SH3 3. muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding p.R656M(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) GTCTCCCGGAGGACCCAGAAA 0.612000 OREG0018613 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 180 2.02627e-32 2.52178e-32 1 1 0 PPP1R16B 26051 broad.mit.edu 37 20 37524227 37524227 + Missense_Mutation SNP A A T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:37524227A>T ENST00000299824.1 + 4 530 c.341A>T c.(340-342)gAg>gTg p.E114V PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114V|PPP1R16B_ENST00000468265.1_3'UTR NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 114 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) GACAACTTTGAGGAAATTGTG 0.612000 24 30 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7623122 7623122 + Missense_Mutation SNP C C T rs145790522 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:7623122C>T ENST00000572933.1 + 2 1530 c.70C>T c.(70-72)Cgg>Tgg p.R24W DNAH2_ENST00000082259.3_Missense_Mutation_p.R24W|DNAH2_ENST00000570791.1_Missense_Mutation_p.R24W|DNAH2_ENST00000389173.2_Missense_Mutation_p.R24W Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 24 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGGTCAGGGCGGGCCACTCG 0.627000 21 19 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144891171 144891171 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:144891171C>T ENST00000356994.2 - 15 1729 c.1723G>A c.(1723-1725)Gca>Aca p.A575T SCRIB_ENST00000377533.3_Missense_Mutation_p.A494T|SCRIB_ENST00000320476.3_Missense_Mutation_p.A575T NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 575 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGCAGCAGTGCGTCCTCTGCG 0.652000 38 70 0 0 1 0 0 IVD 3712 broad.mit.edu 37 15 40698035 40698035 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:40698035A>G ENST00000249760.2 + 1 350 c.7A>G c.(7-9)Act>Gct p.T3A IVD_ENST00000479013.2_Missense_Mutation_p.T6A|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Missense_Mutation_p.T6A NM_002225.3 NP_002216.2 P26440 IVD_HUMAN isovaleryl-CoA dehydrogenase 3 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) AGAGATGGCGACTGCGACTCG 0.672000 15 47 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948386 119948386 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:119948386C>A ENST00000307142.4 + 3 1058 c.862C>A c.(862-864)Ctc>Atc p.L288I SYNPO2_ENST00000429713.2_Missense_Mutation_p.L288I|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.L288I NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 288 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGAAGTGATCCTCGACTGCTC 0.562000 13 23 7.03913e-09 7.86726e-09 1 1 0 NUFIP1 26747 broad.mit.edu 37 13 45563305 45563305 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr13:45563305C>T ENST00000379161.4 - 1 313 c.267G>A c.(265-267)gcG>gcA p.A89A RP11-321C24.1_ENST00000437748.2_lincRNA NM_012345.2 NP_036477.2 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein interacting protein 1 89 Pro-rich. box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) AGGGGGGTTGCGCCCCGGGAA 0.642000 18 26 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47040353 47040353 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:47040353C>T ENST00000450053.3 + 23 3547 c.3368C>T c.(3367-3369)aCa>aTa p.T1123I NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.T1123I NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1123 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) TTGGCGGCCACAGGCGATGAC 0.657000 OREG0015546 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 9 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248789550 248789550 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:248789550C>T ENST00000330803.2 - 1 941 c.880G>A c.(880-882)Gtc>Atc p.V294I NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCCCCTATGACGTCCTTGTTT 0.478000 73 100 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132437923 132437923 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:132437923G>A ENST00000326682.8 - 3 661 c.585C>T c.(583-585)agC>agT p.S195S NPHP3_ENST00000337331.5_Silent_p.S195S|NPHP3_ENST00000343113.4_Silent_p.S195S Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 195 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCTGAAGTTTGCTCTCCAACT 0.393000 29 89 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81208415 81208415 + Silent SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:81208415G>T ENST00000599697.1 - 16 2687 c.2688C>A c.(2686-2688)ctC>ctA p.L896L PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000527937.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 896 REJ. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGGCCAGCTGGAGGAGCTGCT 0.582000 18 58 1.2644e-06 1.37278e-06 1 1 0 CBWD1 55871 broad.mit.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:164038C>G ENST00000377447.3 - 5 486 c.e5-1 CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site Q9BRT8 CBWD1_HUMAN COBW domain containing 1 ATP binding|protein binding p.?(2) kidney(1)|lung(2)|ovary(1)|skin(1) 5 all_lung(41;0.218) all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GCCACTGCACCTGAAAATATA 0.284000 4 168 0 0 1 0 0 SPATA4 132851 broad.mit.edu 37 4 177113863 177113863 + Silent SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:177113863G>T ENST00000515234.1 - 3 1679 c.84C>A c.(82-84)ccC>ccA p.P28P SPATA4_ENST00000280191.2_Silent_p.P201P Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 201 apoptosis|spermatogenesis NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10) 22 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) TCAGCATGTTGGGATTGCTTA 0.383000 24 39 1.96895e-08 2.18772e-08 1 1 0 ZNF548 147694 broad.mit.edu 37 19 57910460 57910460 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:57910460A>G ENST00000366197.5 + 3 1055 c.805A>G c.(805-807)Atg>Gtg p.M269V AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.M281V|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTACCGACTCATGAGACATAA 0.418000 38 45 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:97869931A>T ENST00000420699.2 + 50 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 4 28 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 4 117 0 0 1 0 0 C1QTNF4 114900 broad.mit.edu 37 11 47611715 47611715 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:47611715C>T ENST00000302514.3 - 2 1164 c.648G>A c.(646-648)gcG>gcA p.A216A NM_031909.2 NP_114115.2 Q9BXJ3 C1QT4_HUMAN C1q and tumor necrosis factor related protein 4 216 C1q 2. extracellular region breast(2)|endometrium(1)|kidney(1)|lung(2) 6 CGCCGGCCGCCGCGTCGAAGT 0.672000 24 17 0 0 1 0 0 DUSP18 150290 broad.mit.edu 37 22 31059498 31059498 + Missense_Mutation SNP G G A rs71788033 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr22:31059498G>A ENST00000334679.3 - 2 998 c.493C>T c.(493-495)Cac>Tac p.H165Y DUSP18_ENST00000407308.1_Missense_Mutation_p.H165Y|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000404885.1_Missense_Mutation_p.H165Y|DUSP18_ENST00000403268.1_3'UTR NM_152511.3 NP_689724.3 Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 165 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1)|prostate(1)|skin(1) 4 CTGACCATGTGCACAGTGTTC 0.532000 14 62 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137323366 137323366 + Nonsense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:137323366C>A ENST00000367748.1 - 6 1244 c.658G>T c.(658-660)Gga>Tga p.G220* IL20RA_ENST00000316649.5_Nonsense_Mutation_p.G331*|IL20RA_ENST00000541547.1_Nonsense_Mutation_p.G282* Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 331 Fibronectin type-III 2. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) CTGCTTTTTCCCAGTAAACTC 0.433000 47 61 1.76056e-25 2.16275e-25 1 1 0 OTUD7A 161725 broad.mit.edu 37 15 31776656 31776656 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:31776656C>T ENST00000382902.1 - 11 1735 c.1643G>A c.(1642-1644)gGc>gAc p.G548D OTUD7A_ENST00000307050.4_Missense_Mutation_p.G541D Q8TE49 OTU7A_HUMAN OTU domain containing 7A 541 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GCCCATCTTGCCGTGCACCAG 0.657000 12 51 0 0 1 0 0 NFATC4 4776 broad.mit.edu 37 14 24836273 24836273 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:24836273C>T ENST00000413692.2 + 1 157 c.13C>T c.(13-15)Ctc>Ttc p.L5F NFATC4_ENST00000554591.1_Missense_Mutation_p.L5F|NFATC4_ENST00000440487.2_Intron NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 0 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) GATAACCACCCTCCCATCTCT 0.572000 9 109 0 0 1 0 0 ASIC4 55515 broad.mit.edu 37 2 220396777 220396777 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:220396777C>A ENST00000358078.4 + 3 1177 c.1163C>A c.(1162-1164)cCg>cAg p.P388Q ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Missense_Mutation_p.P388Q Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 388 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity CAGGAGGAGCCGCCCTACATC 0.607000 4 168 0.00909568 0.0092416 1 1 0 USP13 8975 broad.mit.edu 37 3 179474843 179474843 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:179474843G>A ENST00000263966.3 + 16 2396 c.1925G>A c.(1924-1926)cGc>cAc p.R642H USP13_ENST00000496897.1_Missense_Mutation_p.R577H|USP13_ENST00000482333.1_3'UTR NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 642 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TTTCCAGATCGCCTGATGAAC 0.368000 11 197 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14000543 14000543 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:14000543C>T ENST00000454313.1 - 6 1184 c.1126G>A c.(1126-1128)Gct>Act p.A376T C19orf57_ENST00000346736.2_Missense_Mutation_p.A376T|C19orf57_ENST00000586783.1_Missense_Mutation_p.A376T|C19orf57_ENST00000591586.1_Intron Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 376 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CCTCCATCAGCGGCCTTCCTC 0.667000 18 43 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10247397 10247397 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:10247397C>A ENST00000418404.3 - 15 1777 c.1614G>T c.(1612-1614)gaG>gaT p.E538D MYH13_ENST00000252172.4_Missense_Mutation_p.E538D|MYH13_ENST00000570743.1_Missense_Mutation_p.E538D Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 538 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ACATGCACTCCTCTTCCAGGA 0.473000 36 116 2.87052e-16 3.44462e-16 1 1 0 LRRK1 79705 broad.mit.edu 37 15 101586254 101586254 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:101586254C>T ENST00000284395.5 + 22 3423 c.3023C>T c.(3022-3024)gCc>gTc p.A1008V RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.A1011V Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1011 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CACCCCACAGCCAACACCATT 0.552000 7 94 0 0 1 0 0 TP53INP2 58476 broad.mit.edu 37 20 33298028 33298028 + Silent SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:33298028C>A ENST00000374810.3 + 5 969 c.580C>A c.(580-582)Cga>Aga p.R194R TP53INP2_ENST00000374809.2_Silent_p.R194R|NCOA6_ENST00000593786.1_Intron NM_021202.1 NP_067025.1 Q8IXH6 T53I2_HUMAN tumor protein p53 inducible nuclear protein 2 194 nucleus endometrium(1)|urinary_tract(1) 2 GCGGCAGAACCGAGCCCGCGA 0.731000 3 22 0.00909568 0.0092416 1 1 0 TBX4 9496 broad.mit.edu 37 17 59534957 59534957 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:59534957G>T ENST00000393853.4 + 3 409 c.246G>T c.(244-246)gaG>gaT p.E82D TBX4_ENST00000240335.1_Missense_Mutation_p.E82D P57082 TBX4_HUMAN T-box 4 82 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 AGTTCCACGAGGCGGGCACCG 0.607000 9 80 9.70103e-10 1.09714e-09 1 1 0 ODC1 4953 broad.mit.edu 37 2 10580932 10580932 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:10580932C>T ENST00000234111.4 - 12 1814 c.1304G>A c.(1303-1305)aGc>aAc p.S435N ODC1_ENST00000405333.1_Missense_Mutation_p.S435N NM_002539.1 NP_002530.1 P11926 DCOR_HUMAN ornithine decarboxylase 1 435 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) AGGCAGGGTGCTGGCATCCTG 0.512000 17 103 0 0 1 0 0 PIK3R4 30849 broad.mit.edu 37 3 130437346 130437346 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:130437346G>A ENST00000356763.3 - 8 2571 c.2014C>T c.(2014-2016)Cgt>Tgt p.R672C NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 672 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 GCACCATAACGTATCCATAAA 0.383000 21 70 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140057651 140057651 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:140057651G>A ENST00000371561.3 + 16 3299 c.2202G>A c.(2200-2202)gcG>gcA p.A734A GRIN1_ENST00000371560.3_Silent_p.A755A|GRIN1_ENST00000371553.3_Silent_p.A755A|GRIN1_ENST00000371559.4_Silent_p.A734A|GRIN1_ENST00000371546.4_Silent_p.A755A|GRIN1_ENST00000371550.4_Silent_p.A734A|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Silent_p.A734A|GRIN1_ENST00000371555.4_Silent_p.A755A|GRIN1_ENST00000315048.3_Silent_p.A734A NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 734 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GGGACTCGGCGGTGCTGGAGT 0.667000 7 26 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153903541 153903541 + Splice_Site SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:153903541C>A ENST00000361217.4 - 25 4415 c.e25-1 DENND4B_ENST00000474386.1_Splice_Site NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GAGATGGGGCCTGGGGGAGCC 0.567000 4 24 0.00909568 0.0092416 1 1 0 ATL2 64225 broad.mit.edu 37 2 38537548 38537548 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:38537548C>T ENST00000378954.4 - 8 847 c.846G>A c.(844-846)aaG>aaA p.K282K ATL2_ENST00000452935.2_Silent_p.K264K|ATL2_ENST00000419554.2_Silent_p.K282K|ATL2_ENST00000402054.1_Silent_p.K111K|ATL2_ENST00000539122.1_Silent_p.K111K|ATL2_ENST00000406122.1_Silent_p.K111K|ATL2_ENST00000332337.4_Silent_p.K264K|ATL2_ENST00000546051.1_Silent_p.K111K NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 282 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 TGTGTATGTGCTTCCTTACAT 0.368000 13 64 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 16024504 16024504 + Nonsense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:16024504G>A ENST00000268712.3 - 16 1971 c.1714C>T c.(1714-1716)Cga>Tga p.R572* NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R572*|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.R463* NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 572 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GCAGTCTTTCGCCCCCGGGGT 0.542000 38 156 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118170065 118170065 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:118170065C>T ENST00000427715.2 + 7 841 c.407C>T c.(406-408)gCa>gTa p.A136V SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136V|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136V|SLC30A8_ENST00000456015.2_Missense_Mutation_p.A185V NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 185 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TCCAGCTGCGCAGTGGCGGCC 0.527000 9 171 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33954220 33954220 + Silent SNP C C T rs146912787 by1000genomes TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:33954220C>T ENST00000361328.3 + 3 726 c.573C>T c.(571-573)gcC>gcT p.A191A ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Silent_p.A191A NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 191 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) ACCTAAATGCCGAGGTGGCAC 0.557000 10 31 0 0 1 0 0 HYAL4 23553 broad.mit.edu 37 7 123508423 123508423 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:123508423C>T ENST00000223026.4 + 3 734 c.96C>T c.(94-96)atC>atT p.I32I HYAL4_ENST00000476325.1_Silent_p.I32I NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 32 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TAAAGTCTATCTCTTGTCTAA 0.328000 37 83 0 0 1 0 0 PAPSS1 9061 broad.mit.edu 37 4 108566103 108566103 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:108566103A>G ENST00000265174.4 - 10 1633 c.1361T>C c.(1360-1362)cTg>cCg p.L454P NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 454 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) CCAGCCACCCAGAGGGTGGAG 0.547000 6 49 0 0 1 0 0 SFMBT1 51460 broad.mit.edu 37 3 52940182 52940182 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:52940182G>A ENST00000394752.3 - 20 2789 c.2407C>T c.(2407-2409)Cgg>Tgg p.R803W SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W|SFMBT1_ENST00000296295.6_Intron NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 803 SAM. regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CTGATGAACCGCACAACGTCT 0.418000 4 77 0 0 1 0 0 CUEDC1 404093 broad.mit.edu 37 17 55950170 55950170 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:55950170G>A ENST00000577830.1 - 5 1051 c.638C>T c.(637-639)cCt>cTt p.P213L CUEDC1_ENST00000577840.1_Missense_Mutation_p.P76L|CUEDC1_ENST00000360238.2_Missense_Mutation_p.P213L|CUEDC1_ENST00000407144.2_Missense_Mutation_p.P213L NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 213 endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 AGCCATGGCAGGTGGACATCC 0.607000 26 81 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876380 35876380 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:35876380G>T ENST00000303115.3 + 8 1301 c.1172G>T c.(1171-1173)aGg>aTg p.R391M IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 391 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CTAGACTGCAGGGAGAGTGGC 0.542000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 7 74 8.12818e-05 8.65993e-05 1 1 0 SHH 6469 broad.mit.edu 37 7 155595700 155595700 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:155595700G>A ENST00000297261.2 - 3 1433 c.1283C>T c.(1282-1284)gCc>gTc p.A428V NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog 428 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCCCGCGGTGGCCCCCGCACC 0.736000 7 15 0 0 1 0 0 FANCL 55120 broad.mit.edu 37 2 58388752 58388752 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:58388752T>C ENST00000402135.3 - 12 976 c.940A>G c.(940-942)Att>Gtt p.I314V FANCL_ENST00000233741.4_Missense_Mutation_p.I309V|FANCL_ENST00000403295.3_Missense_Mutation_p.I281V|FANCL_ENST00000403676.1_Missense_Mutation_p.I192V NM_001114636.1 NP_001108108.1 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L 309 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2) 8 GCATAACAAATTCCACAATCC 0.338000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 30 54 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23647099 23647099 + Silent SNP G G A rs45487491 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:23647099G>A ENST00000261584.4 - 4 920 c.768C>T c.(766-768)agC>agT p.S256S NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 256 Interaction with BRCA1. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) GACTACTACCGCTATCTGATA 0.418000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 56 228 0 0 1 0 0 CHRNE 1145 broad.mit.edu 37 17 4802766 4802766 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:4802766G>A ENST00000293780.4 - 9 1039 c.1029C>T c.(1027-1029)cgC>cgT p.R343R C17orf107_ENST00000521575.1_5'UTR NM_000080.3 NP_000071.1 Q04844 ACHE_HUMAN cholinergic receptor, nicotinic, epsilon (muscle) 343 muscle contraction|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1) 12 CGCTTACGTGGCGCAGCCGCG 0.677000 6 4 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91686146 91686146 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:91686146G>A ENST00000375835.4 - 5 1057 c.751C>T c.(751-753)Cgg>Tgg p.R251W SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 251 PID. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 GAGATGGACCGCATGTGGTGA 0.507000 29 8 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6477356 6477356 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:6477356G>A ENST00000525074.1 - 7 1873 c.1479C>T c.(1477-1479)tcC>tcT p.S493S TRIM3_ENST00000345851.3_Silent_p.S493S|TRIM3_ENST00000537602.1_Silent_p.S415S|TRIM3_ENST00000359518.3_Silent_p.S493S|TRIM3_ENST00000536344.1_Silent_p.S374S|TRIM3_ENST00000529058.1_5'UTR NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 493 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCTGGCTGCGGACACACCTT 0.493000 16 75 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48922967 48922967 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:48922967G>A ENST00000263269.3 + 9 2075 c.1987G>A c.(1987-1989)Gcc>Acc p.A663T NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 663 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GCTGGTGTGGGCCTTCTTCGC 0.587000 42 149 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10789317 10789317 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:10789317C>T ENST00000449870.1 + 6 905 c.588C>T c.(586-588)gaC>gaT p.D196D ILF3_ENST00000588657.1_Silent_p.D196D|ILF3_ENST00000589998.1_Silent_p.D196D|ILF3_ENST00000407004.3_Silent_p.D196D|ILF3_ENST00000318511.3_Silent_p.D196D|ILF3_ENST00000250241.8_Silent_p.D196D|ILF3_ENST00000590261.1_Silent_p.D196D|ILF3_ENST00000420083.1_Silent_p.D196D|ILF3_ENST00000592763.1_Silent_p.D196D NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 196 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) ACCCCCCGGACGTTCTGGACA 0.498000 29 73 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86210351 86210351 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:86210351T>C ENST00000370571.2 - 57 5036 c.4670A>G c.(4669-4671)gAt>gGt p.D1557G COL24A1_ENST00000436319.1_Missense_Mutation_p.D1536G NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1557 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) GAACTTACCATCTGATACTTT 0.358000 11 134 0 0 1 0 0 NARS2 79731 broad.mit.edu 37 11 78204128 78204128 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:78204128C>T ENST00000281038.5 - 7 1178 c.803G>A c.(802-804)aGc>aAc p.S268N NARS2_ENST00000528850.1_Missense_Mutation_p.S41N NM_001243251.1|NM_024678.5 NP_001230180.1|NP_078954.4 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) 268 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) ATCTTGAAGGCTGTCAACAAA 0.393000 20 72 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43006186 43006186 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:43006186C>T ENST00000535468.1 - 25 4930 c.4844G>A c.(4843-4845)aGc>aAc p.S1615N CUL7_ENST00000265348.3_Missense_Mutation_p.S1531N NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 1531 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGGTTCCTTGCTGCCATCTCG 0.582000 8 118 0 0 1 0 0 LIMD2 80774 broad.mit.edu 37 17 61775953 61775953 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:61775953A>G ENST00000259006.3 - 5 501 c.343T>C c.(343-345)Tgg>Cgg p.W115R LIMD2_ENST00000578061.1_Missense_Mutation_p.W115R|LIMD2_ENST00000578402.1_Missense_Mutation_p.W115R|LIMD2_ENST00000583211.1_Missense_Mutation_p.W66R|LIMD2_ENST00000578993.1_Missense_Mutation_p.W75R|LIMD2_ENST00000582055.1_Missense_Mutation_p.W66R NM_030576.3 NP_085053.1 Q9BT23 LIMD2_HUMAN LIM domain containing 2 115 zinc ion binding kidney(1)|lung(2) 3 TTGTGGGCCCAGAGCTCCTTG 0.632000 4 58 0 0 1 0 0 KANK3 256949 broad.mit.edu 37 19 8398062 8398062 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:8398062C>T ENST00000330915.3 - 7 1837 c.1772G>A c.(1771-1773)cGc>cAc p.R591H KANK3_ENST00000593649.1_Missense_Mutation_p.R591H NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 591 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 CGCCTGAGAGCGCCGCTGGCT 0.687000 25 27 0 0 1 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122263361 122263361 + Missense_Mutation SNP G G C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:122263361G>C ENST00000398250.1 + 2 440 c.88G>C c.(88-90)Gtc>Ctc p.V30L PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.V30L|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.V30L|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.V30L|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.V20L NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 30 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) GTTCCAGAGAGTCATCCAGCC 0.423000 55 11 0 0 1 0 0 PARP10 84875 broad.mit.edu 37 8 145060033 145060033 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:145060033G>A ENST00000313028.7 - 3 386 c.292C>T c.(292-294)Cct>Tct p.P98S PARP10_ENST00000524918.1_Missense_Mutation_p.P98S|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.P110S NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 98 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTGGTGCCAGGGGGCAGTCCT 0.697000 14 44 0 0 1 0 0 PDIA5 10954 broad.mit.edu 37 3 122842976 122842976 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:122842976C>T ENST00000316218.7 + 9 768 c.673C>T c.(673-675)Cgc>Tgc p.R225C NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 225 Thioredoxin 1. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity p.R225C(1) breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) GTACAGCGTGCGCGGCTTCCC 0.537000 24 54 0 0 1 0 0 UBOX5 22888 broad.mit.edu 37 20 3090766 3090766 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:3090766G>A ENST00000217173.2 - 5 2083 c.1612C>T c.(1612-1614)Cgg>Tgg p.R538W UBOX5_ENST00000348031.2_Missense_Mutation_p.R484W|UBOX5-AS1_ENST00000446537.1_RNA NM_001267584.1|NM_014948.3 NP_001254513.1|NP_055763.1 O94941 RNF37_HUMAN U-box domain containing 5 538 nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 20 AAGTGGACCCGCAGCACGTCT 0.662000 7 136 0 0 1 0 0 TCTEX1D1 200132 broad.mit.edu 37 1 67241982 67241982 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:67241982G>A ENST00000282670.2 + 4 360 c.232G>A c.(232-234)Gtg>Atg p.V78M NM_152665.2 NP_689878.2 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 78 large_intestine(2)|lung(10)|skin(1) 13 ACATTTTCCTGTGGTCACCGT 0.358000 22 74 0 0 1 0 0 NCK2 8440 broad.mit.edu 37 2 106498429 106498429 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:106498429C>T ENST00000233154.4 + 4 1314 c.872C>T c.(871-873)aCg>aTg p.T291M NCK2_ENST00000393349.2_Missense_Mutation_p.T291M|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 291 SH2. axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 GGGAACGTGACGCGGCACCAG 0.692000 13 43 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160260441 160260441 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:160260441G>A ENST00000241704.7 - 32 3685 c.3456C>T c.(3454-3456)ccC>ccT p.P1152P COPA_ENST00000368069.3_Silent_p.P1161P NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 1152 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGCATCTGTGGGATTCTTCT 0.488000 38 218 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21833045 21833045 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:21833045T>C ENST00000216297.2 - 10 1512 c.1174A>G c.(1174-1176)Aaa>Gaa p.K392E NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 392 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TCTGGCTTTTTCCCCTCCTTG 0.428000 16 55 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122854027 122854027 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:122854027C>T ENST00000264811.5 - 1 585 c.167G>A c.(166-168)cGc>cAc p.R56H TRPC3_ENST00000379645.3_Missense_Mutation_p.R129H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R56H NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 44 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CAGCATCTTGCGCACCACTGG 0.647000 36 20 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112174713 112174713 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:112174713C>T ENST00000457016.1 + 16 3802 c.3422C>T c.(3421-3423)aCc>aTc p.T1141I APC_ENST00000508376.2_Missense_Mutation_p.T1141I|APC_ENST00000257430.4_Missense_Mutation_p.T1141I|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1141 Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GATAAGCCTACCAATTATAGT 0.343000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 4 48 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177713372 177713372 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:177713372A>G ENST00000280193.2 - 1 509 c.94T>C c.(94-96)Ttc>Ctc p.F32L NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 32 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) CCGGACTCGAAggcggcggcg 0.687000 16 11 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71723995 71723995 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:71723995C>A ENST00000393695.3 - 15 4885 c.4554G>T c.(4552-4554)aaG>aaT p.K1518N NUMA1_ENST00000358965.6_Missense_Mutation_p.K1518N|NUMA1_ENST00000351960.6_Intron NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1518 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CCTCCAGGACCTTGACCTTGG 0.592000 T RARA APL 20 51 1.56452e-12 1.81996e-12 1 1 0 CSTB 1476 broad.mit.edu 37 21 45194587 45194587 + Silent SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr21:45194587G>T ENST00000291568.5 - 2 295 c.120C>A c.(118-120)gcC>gcA p.A40A NM_000100.3 NP_000091.1 P04080 CYTB_HUMAN cystatin B (stefin B) 40 cytoplasm|nucleolus cysteine-type endopeptidase inhibitor activity|protease binding lung(1)|prostate(1) 2 STAD - Stomach adenocarcinoma(101;0.168) TGAATGACACGGCCTTAAACA 0.527000 20 73 1.28384e-07 1.40729e-07 1 1 0 PNPLA6 10908 broad.mit.edu 37 19 7605872 7605872 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:7605872C>A ENST00000221249.6 + 10 1173 c.742C>A c.(742-744)Ctg>Atg p.L248M PNPLA6_ENST00000600737.1_Missense_Mutation_p.L287M|PNPLA6_ENST00000545201.2_Missense_Mutation_p.L248M|PNPLA6_ENST00000450331.3_Missense_Mutation_p.L248M|PNPLA6_ENST00000414982.3_Missense_Mutation_p.L296M NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 287 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 GGTGCTGCGCCTGCCGGTGGA 0.692000 4 21 0.00909568 0.0092416 1 1 0 LRRC73 221424 broad.mit.edu 37 6 43476148 43476148 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:43476148C>T ENST00000372441.1 - 3 1344 c.444G>A c.(442-444)gaG>gaA p.E148E NM_001012974.1 NP_001012992.1 Q5JTD7 CF154_HUMAN leucine rich repeat containing 73 148 TCAGCGTTAGCTCCTTCAAGC 0.602000 19 47 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35129958 35129958 + RNA SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:35129958T>C ENST00000436258.1 - 0 3411 ACCATGCCTCTTCTAAAACAT 0.348000 193 131 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25671280 25671280 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:25671280G>T ENST00000382051.3 + 7 697 c.647G>T c.(646-648)gGa>gTa p.G216V SLC34A2_ENST00000503434.1_Missense_Mutation_p.G215V|SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Missense_Mutation_p.G215V NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 216 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) GCTTTTGCAGGAGCCACTGTC 0.537000 T ROS1 NSCLC 60 23 4.88506e-25 5.98813e-25 1 1 0 PSME2 5721 broad.mit.edu 37 14 24614653 24614653 + Missense_Mutation SNP C C G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:24614653C>G ENST00000216802.5 - 4 805 c.166G>C c.(166-168)Gac>Cac p.D56H PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Missense_Mutation_p.D45H NM_002818.2 NP_002809.2 Q9UL46 PSME2_HUMAN proteasome (prosome, macropain) activator subunit 2 (PA28 beta) 56 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome activator complex endometrium(1)|lung(3)|prostate(2) 6 GBM - Glioblastoma multiforme(265;0.00839) GAAGTCAAGTCAGCCACATTG 0.577000 17 77 0 0 1 0 0 MAZ 4150 broad.mit.edu 37 16 29821459 29821459 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:29821459A>G ENST00000563402.1 + 3 441 c.310A>G c.(310-312)Agc>Ggc p.S104G MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000566906.2_Missense_Mutation_p.S102G|MAZ_ENST00000562337.1_Silent_p.A142A|MAZ_ENST00000322945.6_Silent_p.A447A|MAZ_ENST00000545521.1_Silent_p.A424A|AC009133.14_ENST00000569981.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000568544.1_Silent_p.A48A P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 104 Poly-Ala. regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 cagcagcggcagcagtagcag 0.667000 5 32 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62209646 62209646 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:62209646T>C ENST00000261517.5 - 60 8022 c.7949A>G c.(7948-7950)tAc>tGc p.Y2650C VPS13C_ENST00000395898.3_Missense_Mutation_p.Y2607C|VPS13C_ENST00000249837.3_Missense_Mutation_p.Y2607C|VPS13C_ENST00000395896.4_Missense_Mutation_p.Y2650C NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2650 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TGTACATATGTAGCTCAATTC 0.418000 18 61 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787199 73787199 + Silent SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:73787199A>G ENST00000342056.2 + 4 1169 c.771A>G c.(769-771)tcA>tcG p.S257S KCNQ5_ENST00000355194.4_Silent_p.S257S|KCNQ5_ENST00000355635.3_Silent_p.S257S|KCNQ5_ENST00000414165.2_Silent_p.S257S|KCNQ5_ENST00000370392.1_Silent_p.S257S|KCNQ5_ENST00000403813.2_Silent_p.S257S|KCNQ5_ENST00000402622.2_Silent_p.S257S|KCNQ5_ENST00000370398.1_Silent_p.S257S NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 257 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TACTGGGTTCAGTGGTTTATG 0.418000 36 38 0 0 1 0 0 DENND1C 79958 broad.mit.edu 37 19 6475575 6475575 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:6475575C>T ENST00000381480.2 - 13 959 c.847G>A c.(847-849)Gag>Aag p.E283K DENND1C_ENST00000543576.1_Missense_Mutation_p.E239K NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 283 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 ACGACGTCCTCCAGGGCTTTT 0.627000 20 112 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237659941 237659941 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:237659941G>A ENST00000366574.2 + 20 2409 c.2092G>A c.(2092-2094)Gct>Act p.A698T RYR2_ENST00000360064.6_Missense_Mutation_p.A696T|RYR2_ENST00000542537.1_Missense_Mutation_p.A682T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 698 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGTGGGCTGGGCTTCCACTGA 0.502000 20 83 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160149596 160149596 + Missense_Mutation SNP G G A rs11548868 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:160149596G>A ENST00000357388.3 + 21 3731 c.3280G>A c.(3280-3282)Gca>Aca p.A1094T SMC4_ENST00000344722.5_Missense_Mutation_p.A1094T|SMC4_ENST00000469762.1_Missense_Mutation_p.A1069T|SMC4_ENST00000462787.1_Missense_Mutation_p.A1036T|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.A1036T NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 1094 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CGGTGCCATCGCAGAGTATAA 0.358000 36 24 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17610538 17610538 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:17610538G>A ENST00000377813.1 - 9 2982 c.2679C>T c.(2677-2679)caC>caT p.H893H RRBP1_ENST00000455029.2_Silent_p.H234H|RRBP1_ENST00000377807.2_Silent_p.H460H|RRBP1_ENST00000360807.4_Silent_p.H460H|RRBP1_ENST00000246043.4_Silent_p.H893H Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 893 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 TGCTCTGCGTGTGGCACAGCT 0.711000 7 49 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6174959 6174959 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:6174959A>G ENST00000264870.3 - 12 1866 c.1601T>C c.(1600-1602)tTc>tCc p.F534S NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 534 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGAGAGCTTGAAGTCTTTTCC 0.493000 39 67 0 0 1 0 0 SULT1C4 27233 broad.mit.edu 37 2 108994806 108994806 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:108994806G>A ENST00000272452.2 + 1 339 c.13G>A c.(13-15)Gac>Aac p.D5N SULT1C4_ENST00000409309.3_Missense_Mutation_p.D5N NM_006588.2 NP_006579.2 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 4 5 D -> E (in dbSNP:rs1402467). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 GGCCTTACACGACATGGAGGA 0.443000 103 117 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7755268 7755268 + Splice_Site SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:7755268G>T ENST00000254846.5 + 18 4554 c.e18-1 KDM6B_ENST00000448097.2_Splice_Site NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GACCCCTGCAGGCCACCAGGA 0.632000 OREG0024145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 34 0.00829132 0.00853078 1 1 0 OLFM1 10439 broad.mit.edu 37 9 138011607 138011607 + Silent SNP C C T rs138868145 byFrequency TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:138011607C>T ENST00000252854.4 + 6 1174 c.987C>T c.(985-987)taC>taT p.Y329Y OLFM1_ENST00000371793.3_Silent_p.Y347Y|OLFM1_ENST00000371796.3_Silent_p.Y320Y NM_014279.4 NP_055094.1 Q99784 NOE1_HUMAN olfactomedin 1 347 Olfactomedin-like. nervous system development endoplasmic reticulum lumen protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2) 21 Myeloproliferative disorder(178;0.0333) Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07) TGTACCACTACGCCTGGGGTG 0.572000 34 6 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 994623 994623 + Silent SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:994623C>A ENST00000537687.1 + 19 6076 c.5433C>A c.(5431-5433)tcC>tcA p.S1811S WNK1_ENST00000315939.6_Silent_p.S1551S|WNK1_ENST00000340908.4_Silent_p.S1144S|WNK1_ENST00000530271.2_Silent_p.S2049S|WNK1_ENST00000535572.1_Silent_p.S1304S NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1551 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CTTCCTCTTCCTCTCCTGGAG 0.478000 118 372 8.58103e-55 1.07973e-54 1 1 0 TRUB2 26995 broad.mit.edu 37 9 131076091 131076091 + Silent SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:131076091G>T ENST00000372890.4 - 5 789 c.456C>A c.(454-456)acC>acA p.T152T TRUB2_ENST00000546104.1_Silent_p.T96T|TRUB2_ENST00000460320.1_5'UTR NM_015679.1 NP_056494.1 O95900 TRUB2_HUMAN TruB pseudouridine (psi) synthase family member 2 152 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding kidney(2)|large_intestine(2)|lung(3)|ovary(1) 8 TCTCACCATAGGTTGTCTTCT 0.587000 35 63 1.06647e-15 1.26908e-15 1 1 0 ZNF835 90485 broad.mit.edu 37 19 57175052 57175052 + Silent SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:57175052T>C ENST00000537055.2 - 2 1746 c.1515A>G c.(1513-1515)ccA>ccG p.P505P NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GCGTGGGAGCTGGGCAAAGGC 0.622000 22 178 0 0 1 0 0 ZNF304 57343 broad.mit.edu 37 19 57866668 57866668 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:57866668G>A ENST00000443917.2 + 3 529 c.190G>A c.(190-192)Gca>Aca p.A64T ZNF304_ENST00000282286.5_Intron|ZNF304_ENST00000598744.1_Intron|ZNF304_ENST00000391705.3_Intron Q9HCX3 ZN304_HUMAN zinc finger protein 304 53 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) ATGCAGTTGCGCAGTTGGAGG 0.532000 17 32 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35154314 35154314 + Nonsense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:35154314C>T ENST00000373913.3 + 12 3136 c.2656C>T c.(2656-2658)Cag>Tag p.Q886* DLGAP4_ENST00000340491.4_Nonsense_Mutation_p.Q350*|DLGAP4_ENST00000339266.5_Nonsense_Mutation_p.Q889*|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.12_ENST00000433238.1_RNA|DLGAP4_ENST00000373907.2_Nonsense_Mutation_p.Q889*|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_Nonsense_Mutation_p.Q886* Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 889 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GGACCTGCTACAGCTGTCCAT 0.602000 30 113 0 0 1 0 0 CDKL3 51265 broad.mit.edu 37 5 133702117 133702117 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:133702117T>C ENST00000521118.1 - 2 212 c.98A>G c.(97-99)aAg>aGg p.K33R CDKL3_ENST00000523054.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523832.1_Missense_Mutation_p.K33R|CDKL3_ENST00000265334.4_Missense_Mutation_p.K33R|CDKL3_ENST00000435211.1_Missense_Mutation_p.K33R|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000536186.1_Intron Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 33 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATAAAATATCTTAATGGCCAC 0.358000 19 5 0 0 1 0 0 BRICD5 283870 broad.mit.edu 37 16 2260807 2260807 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:2260807G>A ENST00000328540.3 - 1 1144 c.28C>T c.(28-30)Cgc>Tgc p.R10C BRICD5_ENST00000566018.1_Missense_Mutation_p.R10C|BRICD5_ENST00000562360.1_Missense_Mutation_p.R10C NM_182563.3 NP_872369.2 BRICHOS domain containing 5 GGTTTGGGGCGCTCAGCACAG 0.652000 16 57 0 0 1 0 0 ENO1 2023 broad.mit.edu 37 1 8930527 8930527 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:8930527G>T ENST00000234590.4 - 4 343 c.224C>A c.(223-225)cCt>cAt p.P75H NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) 75 gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AACCAGGGCAGGCGCAATAGT 0.468000 6 57 1 1 1 1 0 RPS6KC1 26750 broad.mit.edu 37 1 213414146 213414146 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:213414146C>A ENST00000366960.3 + 11 1477 c.1327C>A c.(1327-1329)Ctg>Atg p.L443M RPS6KC1_ENST00000543354.1_Missense_Mutation_p.L146M|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.L231M|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.L431M NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 443 Protein kinase 1. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AAAAGTTCACCTGCAGCAGCC 0.423000 4 159 0.00909568 0.0092416 1 1 0 TNPO2 30000 broad.mit.edu 37 19 12830100 12830100 + Silent SNP G G A rs138981862 by1000genomes TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:12830100G>A ENST00000425528.1 - 4 507 c.150C>T c.(148-150)ttC>ttT p.F50F TNPO2_ENST00000588216.1_Silent_p.F50F|TNPO2_ENST00000441499.1_Silent_p.F50F|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000356861.5_Silent_p.F50F|TNPO2_ENST00000592287.1_Silent_p.F50F|TNPO2_ENST00000450764.2_Silent_p.F50F O14787 TNPO2_HUMAN transportin 2 50 Importin N-terminal. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TGGTCAGGACGAAAATCAGGT 0.552000 15 37 0 0 1 0 0 ZFP69B 65243 broad.mit.edu 37 1 40922708 40922708 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:40922708T>C ENST00000411995.2 + 4 680 c.305T>C c.(304-306)gTg>gCg p.V102A ZFP69B_ENST00000361584.3_5'UTR|ZFP69B_ENST00000484445.1_Silent_p.G73G NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B TACCGGGAGGTGATGCTGGAG 0.488000 14 37 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36722689 36722689 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr22:36722689C>T ENST00000216181.5 - 5 766 c.536G>A c.(535-537)gGc>gAc p.G179D MYH9_ENST00000401701.1_Missense_Mutation_p.G179D NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 179 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CTCCGTCTTGCCAGCTCCAGA 0.582000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 27 57 0 0 1 0 0 RAD9A 5883 broad.mit.edu 37 11 67161083 67161083 + Splice_Site SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:67161083T>C ENST00000307980.2 + 4 442 c.e4+2 NM_001243224.1|NM_004584.2 NP_001230153.1|NP_004575.1 Q99638 RAD9A_HUMAN RAD9 homolog A (S. pombe) DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding lung(7)|upper_aerodigestive_tract(1) 8 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) GCAAGTTCGGTGAGTGGGCAG 0.637000 Other conserved DNA damage response genes 36 19 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578370 7578370 + Splice_Site SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:7578370C>T ENST00000420246.2 - 5 692 c.e5+1 TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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) CAGCTGCTCACCATCGCTATC 0.632000 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) 44 52 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105459342 105459342 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:105459342C>T ENST00000264122.4 - 7 1300 c.979G>A c.(979-981)Gga>Aga p.G327R CBLB_ENST00000403724.1_Missense_Mutation_p.G327R|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000394027.3_Missense_Mutation_p.G349R|CBLB_ENST00000405772.1_Missense_Mutation_p.G327R NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 327 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 ACTTACAATCCTTCCCTGCTG 0.418000 Mis S AML 43 88 0 0 1 0 0 LEMD2 221496 broad.mit.edu 37 6 33744789 33744789 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:33744789G>A ENST00000293760.5 - 8 1322 c.1303C>T c.(1303-1305)Cgc>Tgc p.R435C LEMD2_ENST00000508327.1_Missense_Mutation_p.R133C|LEMD2_ENST00000502643.1_5'UTR NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 435 integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 TATGGATAGCGCTCCATGTCC 0.617000 57 77 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177226343 177226343 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:177226343G>T ENST00000361539.4 + 4 804 c.492G>T c.(490-492)aaG>aaT p.K164N FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 164 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TTGTGGACAAGCAGAAACTGG 0.517000 11 46 0.000978159 0.00102491 1 1 0 SUZ12 23512 broad.mit.edu 37 17 30320994 30320994 + Missense_Mutation SNP A A T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:30320994A>T ENST00000322652.5 + 12 1633 c.1404A>T c.(1402-1404)aaA>aaT p.K468N SUZ12_ENST00000580398.1_Missense_Mutation_p.K445N NM_015355.2 NP_056170.2 Q15022 SUZ12_HUMAN SUZ12 polycomb repressive complex 2 subunit 468 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding SSH2/SUZ12(2)|JAZF1/SUZ12(133) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1) 21 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) AGCATCTTAAACTCTGCCATA 0.348000 T JAZF1 endometrial stromal tumours 29 152 0 0 1 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170865 90170865 + Missense_Mutation SNP G G A rs142993117 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:90170865G>A ENST00000333209.3 - 2 915 c.397C>T c.(397-399)Cac>Tac p.H133Y NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 133 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TGGCAGGTGTGCTGATTGGCG 0.557000 58 58 0 0 1 0 0 CTSW 1521 broad.mit.edu 37 11 65650554 65650554 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:65650554C>A ENST00000528419.1 + 8 764 c.760C>A c.(760-762)Ctg>Atg p.L254M CTSW_ENST00000307886.3_Missense_Mutation_p.L254M P56202 CATW_HUMAN cathepsin W 254 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5) 9 READ - Rectum adenocarcinoma(159;0.168) TGCGCAGTACCTGGCCACTTA 0.592000 33 141 3.76114e-14 4.42944e-14 1 1 0 DCLRE1A 9937 broad.mit.edu 37 10 115609585 115609585 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:115609585T>C ENST00000361384.2 - 2 2196 c.1279A>G c.(1279-1281)Aaa>Gaa p.K427E DCLRE1A_ENST00000369305.1_Missense_Mutation_p.K427E NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 427 Nuclear focus formation. cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) GGTTTTGCTTTAGTTGCCTGA 0.408000 Other identified genes with known or suspected DNA repair function 21 29 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26457731 26457731 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:26457731G>T ENST00000265944.5 + 28 3368 c.3202G>T c.(3202-3204)Gca>Tca p.A1068S MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1068 IQ 1. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTGTGTCAGAGCATTCTTGTG 0.338000 33 118 4.3181e-19 5.22573e-19 1 1 0 PIK3C2A 5286 broad.mit.edu 37 11 17139068 17139068 + Silent SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:17139068T>C ENST00000265970.7 - 18 3185 c.3186A>G c.(3184-3186)aaA>aaG p.K1062K PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.K682K NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1062 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) CCTGCCTTACTTTTTCTGCTA 0.393000 53 167 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234112940 234112940 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:234112940G>A ENST00000359570.5 + 28 3108 c.3108G>A c.(3106-3108)ccG>ccA p.1036_1036insP INPP5D_ENST00000455936.2_Missense_Mutation_p.800_800insP|INPP5D_ENST00000450745.1_Missense_Mutation_p.800_800insP Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 0 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AGGAACCCCCGCCCTGCCCGG 0.657000 36 53 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55138607 55138607 + Silent SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:55138607T>C ENST00000257290.5 + 9 1615 c.1284T>C c.(1282-1284)acT>acC p.T428T FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 428 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) ATGGCTCAACTGGGGGACAGA 0.473000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 15 56 0 0 1 0 0 LIMCH1 22998 broad.mit.edu 37 4 41648832 41648832 + Silent SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:41648832T>C ENST00000313860.7 + 12 1641 c.1587T>C c.(1585-1587)acT>acC p.T529T LIMCH1_ENST00000513024.1_Silent_p.T358T|LIMCH1_ENST00000381753.4_Silent_p.T363T|LIMCH1_ENST00000509277.1_Silent_p.T363T|LIMCH1_ENST00000512946.1_Silent_p.T529T|LIMCH1_ENST00000512820.1_Silent_p.T517T|LIMCH1_ENST00000508501.1_Silent_p.T529T|LIMCH1_ENST00000503057.1_Silent_p.T914T|LIMCH1_ENST00000396595.3_Silent_p.T375T|LIMCH1_ENST00000511496.1_Silent_p.T370T|LIMCH1_ENST00000514096.1_Silent_p.T370T|LIMCH1_ENST00000512632.1_Silent_p.T529T NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 529 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 AAACTGTCACTCCCAAAGCAG 0.488000 47 68 0 0 1 0 0 PPHLN1 51535 broad.mit.edu 37 12 42778764 42778764 + Silent SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:42778764C>A ENST00000432191.2 + 5 441 c.369C>A c.(367-369)tcC>tcA p.S123S PPHLN1_ENST00000552761.1_Silent_p.S130S|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000358314.7_Silent_p.S178S|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Silent_p.S185S|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000549190.1_Silent_p.S196S|PPHLN1_ENST00000337898.6_Silent_p.S123S|PPHLN1_ENST00000395568.2_Silent_p.S178S NM_001143787.1 NP_001137259.1 Q8NEY8 PPHLN_HUMAN periphilin 1 178 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) CTGGTGCCTCCTACAAACGGC 0.498000 9 84 0.000673444 0.00070693 1 1 0 USP24 23358 broad.mit.edu 37 1 55612663 55612663 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:55612663C>T ENST00000294383.6 - 19 2188 c.2189G>A c.(2188-2190)cGt>cAt p.R730H USP24_ENST00000407756.1_Missense_Mutation_p.R570H NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 730 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 CTCCTTGGCACGATTCCAGCC 0.383000 6 38 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89346491 89346491 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:89346491C>T ENST00000301030.4 - 9 6919 c.6459G>A c.(6457-6459)gcG>gcA p.A2153A ANKRD11_ENST00000378330.2_Silent_p.A2153A NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 2153 Pro-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCACGGGTTCCGCTTCACCAT 0.647000 17 21 0 0 1 0 0 HIST1H4A 8359 broad.mit.edu 37 6 26022048 26022048 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:26022048T>C ENST00000359907.3 + 1 142 c.142T>C c.(142-144)Tct>Cct p.S48P NM_003538.3 NP_003529.1 P62805 H4_HUMAN histone cluster 1, H4a 48 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|skin(1) 2 GAAGCGGATCTCTGGTCTGAT 0.622000 36 83 0 0 1 0 0 RAD54L 8438 broad.mit.edu 37 1 46739344 46739344 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:46739344G>A ENST00000371975.4 + 14 2209 c.1535G>A c.(1534-1536)aGc>aAc p.S512N RAD54L_ENST00000488942.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.S512N NM_003579.3 NP_003570.2 Q92698 RAD54_HUMAN RAD54-like (S. cerevisiae) 512 Helicase C-terminal. meiosis nucleus ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 25 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) CGAAGCCGTAGCAGTGACAAA 0.547000 Direct reversal of damage;Homologous recombination 7 16 0 0 1 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178080755 178080755 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:178080755G>A ENST00000411529.2 + 4 377 c.326G>A c.(325-327)gGt>gAt p.G109D HNRNPA3_ENST00000392524.2_Missense_Mutation_p.G131D|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.G131D NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 131 RRM 1. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 ATTTTTGTTGGTGGTATTAAA 0.323000 9 45 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74842873 74842873 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:74842873C>T ENST00000358399.3 + 9 930 c.837C>T c.(835-837)caC>caT p.H279H GDA_ENST00000238018.4_Silent_p.H279H|GDA_ENST00000545168.1_Silent_p.H205H|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376989.3_Silent_p.H218H|GDA_ENST00000376986.1_Silent_p.H201H NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 279 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) TGATGGCACACGGCTGCTACC 0.458000 13 21 0 0 1 0 0 PCSK1 5122 broad.mit.edu 37 5 95746686 95746686 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:95746686C>A ENST00000311106.3 - 8 1124 c.887G>T c.(886-888)aGa>aTa p.R296I PCSK1_ENST00000508626.1_Missense_Mutation_p.R249I|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 296 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTCCCCTGTCTCCCCTAAAG 0.468000 38 55 1.06647e-15 1.26908e-15 1 1 0 TELO2 9894 broad.mit.edu 37 16 1559928 1559928 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:1559928G>A ENST00000262319.6 + 21 2784 c.2505G>A c.(2503-2505)gcG>gcA p.A835A NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 835 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) TCCCACCCGCGTCTCCCTAGT 0.662000 5 4 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18254702 18254702 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:18254702G>T ENST00000262811.5 + 21 2382 c.2382G>T c.(2380-2382)gaG>gaT p.E794D NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 794 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 TCTCATCAGAGGATGAGGGGG 0.632000 7 32 2.7689e-08 3.07057e-08 1 1 0 NOS1AP 9722 broad.mit.edu 37 1 162124229 162124229 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:162124229G>A ENST00000361897.5 + 2 542 c.140G>A c.(139-141)aGc>aAc p.S47N NOS1AP_ENST00000530878.1_Missense_Mutation_p.S47N NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 47 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) AGGCCCAACAGCAGGGTGGAG 0.592000 24 25 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182555660 182555660 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:182555660C>T ENST00000367559.3 - 2 535 c.282G>A c.(280-282)acG>acA p.T94T RNASEL_ENST00000539397.1_Silent_p.T94T|RNASEL_ENST00000444138.1_Silent_p.T94T NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 94 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 GGATAAAAGGCGTGGCCCCAT 0.493000 27 31 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123908452 123908452 + Missense_Mutation SNP A A G rs143318973 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:123908452A>G ENST00000373855.1 + 23 3637 c.3377A>G c.(3376-3378)cAg>cGg p.Q1126R CNTRL_ENST00000373847.1_Missense_Mutation_p.Q574R|CNTRL_ENST00000238341.5_Missense_Mutation_p.Q1126R|CNTRL_ENST00000373850.1_Missense_Mutation_p.Q574R Q7Z7A1 CNTRL_HUMAN centriolin 1126 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GTTTCTTATCAGAATGATTAC 0.368000 15 38 0 0 1 0 0 LPL 4023 broad.mit.edu 37 8 19805817 19805817 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:19805817G>A ENST00000311322.8 + 2 685 c.215G>A c.(214-216)aGc>aAc p.S72N LPL_ENST00000521994.1_3'UTR NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 72 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) TTCAATCACAGCAGCAAAACC 0.532000 4 90 0 0 1 0 0 ACAD11 84129 broad.mit.edu 37 3 132337599 132337599 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:132337599C>A ENST00000264990.6 - 11 2264 c.1293G>T c.(1291-1293)gaG>gaT p.E431D ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.E431D|ACAD11_ENST00000481970.2_Missense_Mutation_p.E431D NM_032169.4 NP_115545.3 acyl-CoA dehydrogenase family, member 11 breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 TCCAGAGACCCTCGACTTTGG 0.423000 16 39 1.5739e-10 1.79784e-10 1 1 0 WBP11P1 441818 broad.mit.edu 37 18 30091887 30091887 + RNA SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr18:30091887G>A ENST00000567636.1 + 0 262 NR_003558.1 GACCAAGCCCGAAAGGAAGCC 0.413000 8 94 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48746868 48746868 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:48746868C>T ENST00000314191.2 - 60 8094 c.8038G>A c.(8038-8040)Gcc>Acc p.A2680T PRKDC_ENST00000338368.3_Missense_Mutation_p.A2680T|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2681 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CTCTTGTGGGCAAACAGCAAG 0.542000 Non-homologous end-joining 69 266 0 0 1 0 0 PRLHR 2834 broad.mit.edu 37 10 120354500 120354500 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:120354500G>A ENST00000239032.2 - 2 395 c.257C>T c.(256-258)gCg>gTg p.A86V PRLHR_ENST00000369169.1_Missense_Mutation_p.A86V NM_004248.2 NP_004239.1 P49683 PRLHR_HUMAN prolactin releasing hormone receptor 86 female pregnancy integral to plasma membrane neuropeptide Y receptor activity large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GCGCACCCGCGCGATCACCAG 0.662000 32 41 0 0 1 0 0 CEP41 95681 broad.mit.edu 37 7 130040050 130040050 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:130040050C>A ENST00000223208.4 - 10 1073 c.803G>T c.(802-804)gGt>gTt p.G268V CEP41_ENST00000343969.5_Intron|CEP41_ENST00000541543.1_Intron NM_001257158.1|NM_018718.2 NP_001244087.1|NP_061188.1 Q9BYV8 CEP41_HUMAN centrosomal protein 41kDa 268 G2/M transition of mitotic cell cycle centrosome|cytosol TGGCAGGGAACCAGTAATCAG 0.512000 13 53 1.5842e-08 1.76366e-08 1 1 0 ATL1 51062 broad.mit.edu 37 14 51081185 51081185 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:51081185G>A ENST00000441560.2 + 9 1299 c.818G>A c.(817-819)gGc>gAc p.G273D ATL1_ENST00000354525.4_Missense_Mutation_p.G273D|ATL1_ENST00000358385.6_Missense_Mutation_p.G273D|ATL1_ENST00000357032.3_Missense_Mutation_p.G273D NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 273 axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 CCTCATCCTGGCTTAAAAGTA 0.378000 4 71 0 0 1 0 0 MLYCD 23417 broad.mit.edu 37 16 83941859 83941859 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:83941859T>C ENST00000262430.4 + 3 789 c.770T>C c.(769-771)cTg>cCg p.L257P RP11-505K9.4_ENST00000561562.1_RNA NM_012213.2 NP_036345.2 O95822 DCMC_HUMAN malonyl-CoA decarboxylase 257 acyl-CoA metabolic process|fatty acid biosynthetic process mitochondrion|peroxisome malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 CACGTGGCACTGACTGGTGAC 0.532000 18 74 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28447555 28447555 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:28447555C>A ENST00000261609.7 - 46 7526 c.7418G>T c.(7417-7419)aGg>aTg p.R2473M NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2473 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTCGATGTTCCTTCTGGAAAA 0.572000 11 12 6.40141e-05 6.84579e-05 1 1 0 THBS2 7058 broad.mit.edu 37 6 169640616 169640616 + Nonsense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:169640616C>T ENST00000366787.3 - 7 1212 c.963G>A c.(961-963)tgG>tgA p.W321* NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 321 VWFC. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GGCCATCCTGCCAGCAAGCTG 0.517000 5 107 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30309016 30309016 + Missense_Mutation SNP G G A rs148488534 byFrequency TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr21:30309016G>A ENST00000361371.4 - 26 4636 c.4486C>T c.(4486-4488)Cgg>Tgg p.R1496W LTN1_ENST00000389194.2_Missense_Mutation_p.R1542W NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1496 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TACAAAGCCCGAAGCTGGTGG 0.368000 68 294 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48605577 48605577 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:48605577G>A ENST00000323776.5 + 16 2644 c.2482G>A c.(2482-2484)Gtg>Atg p.V828M MYCBPAP_ENST00000436259.2_Missense_Mutation_p.V791M NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 791 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GCTGAGGTCTGTGCTGGGCCT 0.532000 23 24 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144991437 144991437 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:144991437G>A ENST00000322810.4 - 32 13132 c.12963C>T c.(12961-12963)tcC>tcT p.S4321S PLEC_ENST00000356346.3_Silent_p.S4170S|PLEC_ENST00000345136.3_Silent_p.S4184S|PLEC_ENST00000398774.2_Silent_p.S4152S|PLEC_ENST00000354589.3_Silent_p.S4184S|PLEC_ENST00000527096.1_Silent_p.S4207S|PLEC_ENST00000354958.2_Silent_p.S4162S|PLEC_ENST00000357649.2_Silent_p.S4188S|PLEC_ENST00000436759.2_Silent_p.S4211S NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4321 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGTCCGAGGAGGAGATGGTGA 0.612000 10 126 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363455 22363455 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:22363455T>C ENST00000397121.2 - 3 1381 c.1064A>G c.(1063-1065)cAt>cGt p.H355R NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AATAATCTTATGTTTAGTAAG 0.388000 59 111 0 0 1 0 0 CCDC25 55246 broad.mit.edu 37 8 27593739 27593739 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:27593739G>T ENST00000356537.4 - 9 714 c.621C>A c.(619-621)ttC>ttA p.F207L CCDC25_ENST00000539095.1_Missense_Mutation_p.F139L|RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000522915.1_Missense_Mutation_p.F139L NM_018246.2 NP_060716.2 Q86WR0 CCD25_HUMAN coiled-coil domain containing 25 207 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154) CCTTTTACATGAATTCATCTG 0.289000 40 37 1.32136e-16 1.58897e-16 1 1 0 MAN2A1 4124 broad.mit.edu 37 5 109200755 109200755 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:109200755A>G ENST00000261483.4 + 21 4242 c.3190A>G c.(3190-3192)Aat>Gat p.N1064D MAN2A1_ENST00000505313.1_3'UTR NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 1064 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TGGGCACTCCAATGAGGCAGC 0.473000 16 22 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43018713 43018713 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:43018713G>A ENST00000535468.1 - 4 1564 c.1478C>T c.(1477-1479)cCt>cTt p.P493L CUL7_ENST00000265348.3_Missense_Mutation_p.P409L NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 409 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CACCTGCACAGGAGGCACACC 0.602000 4 107 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92532716 92532716 + Silent SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:92532716C>A ENST00000298047.6 + 9 6554 c.6537C>A c.(6535-6537)gtC>gtA p.V2179V FAT3_ENST00000525166.1_Silent_p.V2029V|FAT3_ENST00000409404.2_Silent_p.V2179V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2179 Cadherin 19. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCACTATTGTCAACAAAGCAA 0.443000 TCGA Ovarian(4;0.039) 9 40 4.68919e-08 5.17992e-08 1 1 0 MGAM 8972 broad.mit.edu 37 7 141767225 141767225 + Splice_Site SNP C C T rs7778384 by1000genomes TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:141767225C>T ENST00000475668.2 + 42 5058 c.5004_splice c.e42+1 p.R1668_splice MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1668 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCCTGGAGCGCGTGAGTATGG 0.592000 4 69 0 0 1 0 0 C19orf25 148223 broad.mit.edu 37 19 1475023 1475023 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:1475023C>A ENST00000588871.1 - 4 307 c.274G>T c.(274-276)Ggg>Tgg p.G92W C19orf25_ENST00000427685.2_3'UTR|C19orf25_ENST00000588849.1_3'UTR|C19orf25_ENST00000436106.2_3'UTR|C19orf25_ENST00000588427.1_Intron|C19orf25_ENST00000585675.1_3'UTR|C19orf25_ENST00000592872.1_3'UTR|C19orf25_ENST00000586564.1_3'UTR NM_152482.2 NP_689695.2 Q9UFG5 CS025_HUMAN chromosome 19 open reading frame 25 0 protein binding Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGCAGGCCCCGAGAGGTCA 0.701000 3 10 6.4e-05 6.84579e-05 1 1 0 DNAJC15 29103 broad.mit.edu 37 13 43643069 43643069 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr13:43643069G>A ENST00000379221.2 + 3 588 c.164G>A c.(163-165)cGc>cAc p.R55H DNAJC15_ENST00000474320.1_3'UTR NM_013238.2 NP_037370.2 Q9Y5T4 DJC15_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 15 55 integral to membrane heat shock protein binding endometrium(2)|kidney(1)|urinary_tract(1) 4 Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737) TATTTAGGTCGCTACGCATTT 0.333000 35 9 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64898311 64898311 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:64898311C>T ENST00000555709.1 + 14 1760 c.1373C>T c.(1372-1374)gCg>gTg p.A458V MTHFD1_ENST00000555252.1_Missense_Mutation_p.A438V|MTHFD1_ENST00000216605.7_Missense_Mutation_p.A514V|MTHFD1_ENST00000545908.1_Missense_Mutation_p.A514V|CTD-2555O16.2_ENST00000556640.1_RNA NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 458 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) CTCGTTGCTGCGGCCATTGAT 0.468000 30 94 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287774 16287774 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr22:16287774T>C ENST00000343518.6 - 1 163 c.112A>G c.(112-114)Agc>Ggc p.S38G NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 38 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CTCTTGCCGCTCCCCCTGCAC 0.592000 5 364 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121509782 121509782 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:121509782A>G ENST00000305949.1 + 14 1642 c.1597A>G c.(1597-1599)Aat>Gat p.N533D NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 533 Interaction with MDM2 (By similarity). cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TAAAACCTTCAATATATTAAA 0.259000 9 82 0 0 1 0 0 LUC7L3 51747 broad.mit.edu 37 17 48824016 48824016 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:48824016G>T ENST00000505658.1 + 9 1280 c.1091G>T c.(1090-1092)aGg>aTg p.R364M LUC7L3_ENST00000544170.1_Missense_Mutation_p.R288M|LUC7L3_ENST00000240304.1_Missense_Mutation_p.R364M|LUC7L3_ENST00000393227.2_Missense_Mutation_p.R364M O95232 LC7L3_HUMAN LUC7-like 3 (S. cerevisiae) 364 Arg/Ser-rich. apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 TATAAGCACAGGAGCAAAAGT 0.408000 15 73 6.31663e-08 6.96417e-08 1 1 0 KIAA1456 57604 broad.mit.edu 37 8 12878930 12878930 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:12878930C>A ENST00000524591.2 + 5 1231 c.742C>A c.(742-744)Cgt>Agt p.R248S KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 248 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 AAAATCGTTTCGTTCCTGGTT 0.418000 13 52 3.27435e-08 3.62404e-08 1 1 0 POU3F2 5454 broad.mit.edu 37 6 99283725 99283725 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:99283725C>T ENST00000328345.5 + 1 1146 c.976C>T c.(976-978)Cct>Tct p.P326S NM_005604.3 NP_005595.2 P20265 PO3F2_HUMAN POU class 3 homeobox 2 326 POU-specific. positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(5) 10 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) CAAGCTGAAGCCTTTGTTGAA 0.587000 41 186 0 0 1 0 0 PIK3R1 5295 broad.mit.edu 37 5 67588981 67588981 + Nonsense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:67588981C>T ENST00000521381.1 + 9 1688 c.1072C>T c.(1072-1074)Cga>Tga p.R358* PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.R88*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.R58*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.R358*|PIK3R1_ENST00000523872.1_5'UTR NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 358 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.R358*(1)|p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) CTTTTTGGTACGAGATGCGTC 0.378000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 43 6 0 0 1 0 0 IL16 3603 broad.mit.edu 37 15 81578132 81578132 + Silent SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:81578132T>C ENST00000394660.2 + 10 1653 c.1293T>C c.(1291-1293)ggT>ggC p.G431G IL16_ENST00000302987.4_Silent_p.G431G NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 431 Interaction with GRIN2A.|PDZ 2. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 GTGATCCCGGTCCAGTCCCCA 0.517000 15 110 0 0 1 0 0 CHCHD4 131474 broad.mit.edu 37 3 14163467 14163467 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:14163467G>A ENST00000295767.5 - 2 335 c.11C>T c.(10-12)tCg>tTg p.S4L CHCHD4_ENST00000396914.3_Intron NM_144636.2 NP_653237.1 Q8N4Q1 MIA40_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 4 0 protein transport|transmembrane transport mitochondrial intermembrane space p.S4L(1) kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 AGATGAATACGACACAGGCAT 0.493000 34 8 0 0 1 0 0 APAF1 317 broad.mit.edu 37 12 99053045 99053045 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:99053045T>C ENST00000357310.1 + 5 1211 c.634T>C c.(634-636)Ttt>Ctt p.F212L APAF1_ENST00000549007.1_Missense_Mutation_p.F212L|APAF1_ENST00000359972.2_Missense_Mutation_p.F201L|APAF1_ENST00000339433.3_Missense_Mutation_p.F212L|APAF1_ENST00000333991.1_Missense_Mutation_p.F212L|APAF1_ENST00000547045.1_Missense_Mutation_p.F212L|APAF1_ENST00000552268.1_Missense_Mutation_p.F212L|APAF1_ENST00000551964.1_Missense_Mutation_p.F212L|APAF1_ENST00000550527.1_Missense_Mutation_p.F201L NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 212 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) GGATGAGAGTTTTTCCCAGAG 0.473000 25 127 0 0 1 0 0 LONRF1 91694 broad.mit.edu 37 8 12598402 12598402 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:12598402G>A ENST00000398246.3 - 3 1013 c.944C>T c.(943-945)gCa>gTa p.A315V LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 315 proteolysis ATP-dependent peptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) TTGCAGCTTTGCAGGTGCAAA 0.388000 33 112 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72368024 72368024 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:72368024A>G ENST00000335666.4 + 4 722 c.674A>G c.(673-675)cAg>cGg p.Q225R NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 225 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 CTGGCCCGCCAGGTGCCCCAG 0.617000 15 18 0 0 1 0 0 BMPR1A 657 broad.mit.edu 37 10 88649931 88649931 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:88649931G>A ENST00000372037.2 + 4 717 c.180G>A c.(178-180)aaG>aaA p.K60K NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 60 BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 CTTTTTTAAAGTGCTATTGCT 0.403000 """Mis, N, F""" gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 85 25 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:7578190T>C ENST00000420246.2 - 6 791 c.659A>G c.(658-660)tAt>tGt p.Y220C TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557000 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 21 0 0 1 0 0 ARNTL 406 broad.mit.edu 37 11 13375941 13375941 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:13375941G>A ENST00000389708.3 + 5 441 c.86G>A c.(85-87)gGt>gAt p.G29D ARNTL_ENST00000389707.4_Missense_Mutation_p.G29D|ARNTL_ENST00000403290.1_Missense_Mutation_p.G29D|ARNTL_ENST00000361003.4_Missense_Mutation_p.G29D|ARNTL_ENST00000403510.3_5'UTR|ARNTL_ENST00000401424.1_5'UTR|ARNTL_ENST00000396441.3_Missense_Mutation_p.G29D O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear translocator-like 29 circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1) 20 Epithelial(150;0.0243) AGCTCTCTTGGTACCAGTGGT 0.512000 13 92 0 0 1 0 0 TANK 10010 broad.mit.edu 37 2 162091951 162091951 + Silent SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:162091951A>G ENST00000392749.2 + 8 1439 c.1200A>G c.(1198-1200)caA>caG p.Q400Q AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Silent_p.Q400Q|TANK_ENST00000405852.1_3'UTR|AC009299.2_ENST00000421122.2_RNA NM_001199135.1 NP_001186064.1 Q92844 TANK_HUMAN TRAF family member-associated NFKB activator 400 cytosol metal ion binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1) 21 AATTCTGTCAAGCAGTTTTCC 0.438000 34 144 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279854 152279854 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:152279854G>A ENST00000368799.1 - 3 7543 c.7508C>T c.(7507-7509)gCc>gTc p.A2503V FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2503 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCATGGGAGGCATCAGACCT 0.547000 Ichthyosis 144 542 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209179974 209179974 + Silent SNP A A T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:209179974A>T ENST00000264380.4 + 15 2042 c.1884A>T c.(1882-1884)tcA>tcT p.S628S NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 628 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 ATAGTGACTCACTGTCATCAT 0.423000 42 76 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50962564 50962564 + Splice_Site SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:50962564G>A ENST00000357701.5 + 23 2842 c.e23+1 NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CGCGTTGTGGGTGCGCGCGCT 0.687000 24 28 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20981271 20981271 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:20981271G>A ENST00000261383.3 - 52 8300 c.8301C>T c.(8299-8301)ctC>ctT p.L2767L DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2767 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GTGCAGCCTCGAGTGCAGGCA 0.607000 24 99 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110232202 110232202 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:110232202C>T ENST00000418703.2 - 7 1517 c.1423G>A c.(1423-1425)Gtg>Atg p.V475M TRPV4_ENST00000392719.2_Missense_Mutation_p.V428M|TRPV4_ENST00000544971.1_Missense_Mutation_p.V368M|TRPV4_ENST00000537083.1_Missense_Mutation_p.V415M|TRPV4_ENST00000536838.1_Missense_Mutation_p.V441M|TRPV4_ENST00000261740.2_Missense_Mutation_p.V475M|TRPV4_ENST00000346520.2_Missense_Mutation_p.V415M|TRPV4_ENST00000541794.1_Missense_Mutation_p.V428M NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 475 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 TAGGAGACCACGTTGATGTAG 0.622000 52 69 0 0 1 0 0 TBC1D23 55773 broad.mit.edu 37 3 100035004 100035004 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:100035004A>G ENST00000394144.4 + 16 1667 c.1660A>G c.(1660-1662)Att>Gtt p.I554V TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.I417V|TBC1D23_ENST00000344949.5_Missense_Mutation_p.I539V NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 554 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 TGTTTTCAGCATTGGGGATGA 0.423000 12 20 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13214409 13214409 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:13214409C>T ENST00000378694.1 + 3 458 c.383C>T c.(382-384)gCc>gTc p.A128V MCM10_ENST00000484800.2_Missense_Mutation_p.A128V|MCM10_ENST00000378714.3_Missense_Mutation_p.A128V Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 128 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 CAAATGAAGGCCTTACAAGAG 0.403000 8 327 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105896983 105896983 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:105896983A>G ENST00000393359.2 - 6 1745 c.1319T>C c.(1318-1320)gTa>gCa p.V440A TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.V440A Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 440 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GCCATTTGCTACCTCTGTGCT 0.562000 14 79 0 0 1 0 0 TXNRD3NB 645840 broad.mit.edu 37 3 126291278 126291278 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:126291278A>G ENST00000383572.2 - 3 587 c.109T>C c.(109-111)Tgc>Cgc p.C37R TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.C37R NM_001039783.1 NP_001034872.1 Q6F5E7 TR3N_HUMAN thioredoxin reductase 3 neighbor 37 endometrium(1)|large_intestine(2)|skin(2) 5 GTGTGGGAGCAGCAGCAAGCC 0.577000 19 74 0 0 1 0 0 LGALS9 3965 broad.mit.edu 37 17 25958323 25958323 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:25958323T>C ENST00000395473.2 + 1 1500 c.32T>C c.(31-33)cTg>cCg p.L11P LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000413914.2_5'UTR|LGALS9_ENST00000313648.6_Missense_Mutation_p.L11P|LGALS9_ENST00000310394.5_Missense_Mutation_p.L11P|LGALS9_ENST00000302228.5_Missense_Mutation_p.L11P|AC015688.3_ENST00000584605.1_Intron NM_009587.2 NP_033665.1 O00182 LEG9_HUMAN lectin, galactoside-binding, soluble, 9 11 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity endometrium(3)|large_intestine(2)|lung(12)|skin(1) 18 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) GCTCCCTACCTGAGTCCAGTG 0.627000 7 63 0 0 1 0 0 SYT12 91683 broad.mit.edu 37 11 66807584 66807584 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:66807584G>T ENST00000393946.2 + 7 1693 c.531G>T c.(529-531)aaG>aaT p.K177N SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000525457.1_Missense_Mutation_p.K177N|SYT12_ENST00000527043.1_Missense_Mutation_p.K177N Q8IV01 SYT12_HUMAN synaptotagmin XII 177 C2 1. cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 TGCAGGGCAAGGACCTCCTGG 0.632000 5 44 0.014758 0.0149681 1 1 0 KBTBD4 55709 broad.mit.edu 37 11 47599055 47599055 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:47599055G>A ENST00000533290.1 - 1 1286 c.572C>T c.(571-573)gCc>gTc p.A191V KBTBD4_ENST00000395288.2_Missense_Mutation_p.A166V|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A182V|KBTBD4_ENST00000525720.1_Missense_Mutation_p.A215V|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.A166V Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 166 BACK. NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 ACAGTGCTTGGCAGCCGTATA 0.542000 31 209 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201352259 201352259 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:201352259G>A ENST00000391967.2 - 7 1630 c.1329C>T c.(1327-1329)caC>caT p.H443H LAD1_ENST00000488842.1_5'UTR|LAD1_ENST00000367313.3_Silent_p.H457H NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 443 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 TCTCAAAGAGGTGGCGCTTGC 0.592000 50 171 0 0 1 0 0 TCEB2 6923 broad.mit.edu 37 16 2821598 2821598 + Missense_Mutation SNP C C T rs79638577 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:2821598C>T ENST00000262306.7 - 5 398 c.361G>A c.(361-363)Gtc>Atc p.V121I TCEB2_ENST00000409906.4_3'UTR|TCEB2_ENST00000409477.1_3'UTR NM_207013.2 NP_996896.1 Q15370 ELOB_HUMAN transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) 0 positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|nucleoplasm protein binding endometrium(2)|prostate(1) 3 TGGGAGTGGACATGCAGGCTA 0.557000 4 131 0 0 1 0 0 ABCF3 55324 broad.mit.edu 37 3 183910459 183910459 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:183910459G>A ENST00000429586.2 + 17 1825 c.1640G>A c.(1639-1641)gGc>gAc p.G547D ABCF3_ENST00000292808.5_Missense_Mutation_p.G541D|EIF2B5_ENST00000444495.1_Intron NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 547 ABC transporter 2. ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCTGTTCGGGGCATCAGACAC 0.572000 7 16 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90631934 90631934 + Missense_Mutation SNP C C T rs121913502 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:90631934C>T ENST00000330062.3 - 4 532 c.419G>A c.(418-420)cGg>cAg p.R140Q IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q|IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 140 Substrate binding (By similarity). R -> G (in D2HGA2).|R -> Q (in D2HGA2). 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.R140Q(292)|p.R140L(8) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) CAGGATGTTCCGGATAGTTCC 0.537000 M GBM 23 62 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411586 105411586 + Missense_Mutation SNP A A G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:105411586A>G ENST00000333244.5 - 7 10321 c.10202T>C c.(10201-10203)aTg>aCg p.M3401T AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3401 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CACTTTGGGCATCTTGAAACT 0.627000 216 333 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 29018290 29018290 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:29018290G>A ENST00000524189.1 - 13 1402 c.1364C>T c.(1363-1365)gCt>gTt p.A455V KIF13B_ENST00000521515.1_Missense_Mutation_p.A455V NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 455 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) AGCTGGGTCAGCATTCAGATT 0.388000 5 69 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66461787 66461787 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:66461787G>A ENST00000533211.1 - 22 4657 c.4326C>T c.(4324-4326)atC>atT p.I1442I SPTBN2_ENST00000529997.1_Silent_p.I1442I|SPTBN2_ENST00000309996.2_Silent_p.I1442I O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1442 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CCTGGGCCTGGATTGCCTCCA 0.607000 OREG0021113 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 35 0 0 1 0 0 ICAM1 3383 broad.mit.edu 37 19 10395480 10395480 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:10395480G>T ENST00000264832.3 + 6 1527 c.1202G>T c.(1201-1203)aGg>aTg p.R401M ICAM1_ENST00000423829.2_Missense_Mutation_p.R179M|CTD-2369P2.5_ENST00000592893.1_RNA NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 401 adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) CTGGACGAGAGGGATTGTCCG 0.567000 7 56 0.0293803 0.029588 1 1 0 OR2W3 343171 broad.mit.edu 37 1 248059210 248059210 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:248059210G>T ENST00000537741.1 + 3 579 c.322G>T c.(322-324)Ggt>Tgt p.G108C OR2W3_ENST00000360358.3_Missense_Mutation_p.G108C Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCTGGGTCTGGGTGGTGTGGA 0.567000 45 73 1.06522e-23 1.30016e-23 1 1 0 CCDC33 80125 broad.mit.edu 37 15 74560687 74560687 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:74560687C>T ENST00000321288.5 + 7 1043 c.1043C>T c.(1042-1044)aCt>aTt p.T348I CCDC33_ENST00000398814.3_Missense_Mutation_p.T145I Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 348 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CTCCAGCCCACTGAGTCTGGG 0.562000 18 32 0 0 1 0 0 ZC3H13 23091 broad.mit.edu 37 13 46541882 46541882 + Missense_Mutation SNP C C G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr13:46541882C>G ENST00000242848.4 - 15 4426 c.4078G>C c.(4078-4080)Gag>Cag p.E1360Q ZC3H13_ENST00000282007.3_Missense_Mutation_p.E1360Q|ZC3H13_ENST00000378921.2_Missense_Mutation_p.E316Q Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1360 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ATTAGtctctctctttcccta 0.443000 26 2 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67699818 67699818 + Silent SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:67699818T>C ENST00000545606.1 + 10 2807 c.2370T>C c.(2368-2370)ctT>ctC p.L790L NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 790 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GCACAGCTCTTACTCATAAGC 0.433000 44 140 0 0 1 0 0 ZCCHC24 219654 broad.mit.edu 37 10 81192499 81192499 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:81192499C>T ENST00000372336.3 - 2 448 c.262G>A c.(262-264)Gtg>Atg p.V88M ZCCHC24_ENST00000372333.3_Missense_Mutation_p.C28Y NM_153367.3 NP_699198.2 Q8N2G6 ZCH24_HUMAN zinc finger, CCHC domain containing 24 88 nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1) 9 CCCTTGTACACACTGTTGCTC 0.582000 19 5 0 0 1 0 0 PMM2 5373 broad.mit.edu 37 16 8900255 8900255 + Missense_Mutation SNP C C T rs80338700 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:8900255C>T ENST00000268261.4 + 4 404 c.338C>T c.(337-339)cCg>cTg p.P113L PMM2_ENST00000539622.1_Missense_Mutation_p.P30L|PMM2_ENST00000569958.1_Intron|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.P86L NM_000303.2 NP_000294.1 O15305 PMM2_HUMAN phosphomannomutase 2 113 P -> L (in CDG1A). dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol phosphomannomutase activity breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1) 9 ATTAAACTCCCGAAGAAGAGG 0.403000 48 65 0 0 1 0 0 TINF2 26277 broad.mit.edu 37 14 24709778 24709778 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr14:24709778G>T ENST00000399423.4 - 6 1238 c.908C>A c.(907-909)cCt>cAt p.P303H TINF2_ENST00000538777.1_Missense_Mutation_p.P89H|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000559019.1_3'UTR|TINF2_ENST00000267415.7_Missense_Mutation_p.P303H|TINF2_ENST00000540705.1_Missense_Mutation_p.P268H NM_012461.2 NP_036593.2 Q9BSI4 TINF2_HUMAN TERF1 (TRF1)-interacting nuclear factor 2 303 negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter protein binding|telomeric DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0185) CTTGCTCTCAGGCTTAGATAT 0.557000 Congenital Dyskeratosis;Ataxia Pancytopenia syndrome 8 94 0.000157383 0.000166744 1 1 0 MAEL 84944 broad.mit.edu 37 1 166990329 166990329 + Missense_Mutation SNP G G T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:166990329G>T ENST00000367872.4 + 11 1293 c.1049G>T c.(1048-1050)aGg>aTg p.R350M MAEL_ENST00000367870.2_Missense_Mutation_p.R319M|MAEL_ENST00000491055.1_3'UTR NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 350 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 CAGAAGCTAAGGGTTGGGAGT 0.338000 21 75 2.98393e-07 3.25832e-07 1 1 0 GPBAR1 151306 broad.mit.edu 37 2 219128050 219128050 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:219128050G>A ENST00000522678.1 + 2 1471 c.603G>A c.(601-603)cgG>cgA p.R201R GPBAR1_ENST00000479077.1_Silent_p.R201R|GPBAR1_ENST00000521462.1_Silent_p.R201R|GPBAR1_ENST00000519574.1_Silent_p.R201R NM_001077191.1 NP_001070659.1 Q8TDU6 GPBAR_HUMAN G protein-coupled bile acid receptor 1 201 integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(1)|ovary(1) 4 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACATCTGCCGGCTGGAGCGGG 0.701000 14 27 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955793 18955793 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:18955793G>A ENST00000302797.3 - 1 763 c.539C>T c.(538-540)aCa>aTa p.T180I MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 180 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCACGCGACTGTGATGAAATC 0.532000 4 123 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370926 240370926 + Silent SNP C C A rs71170718 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:240370926C>A ENST00000319653.9 + 5 3044 c.2814C>A c.(2812-2814)ccC>ccA p.P938P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 938 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1081P(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCTCTACCCGGAGCGGGAA 0.697000 50 51 4.17463e-26 5.13939e-26 1 1 0 ARHGEF10L 55160 broad.mit.edu 37 1 17990994 17990994 + Silent SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:17990994C>T ENST00000361221.3 + 26 3072 c.2913C>T c.(2911-2913)ccC>ccT p.P971P ARHGEF10L_ENST00000452522.1_Silent_p.P932P|ARHGEF10L_ENST00000375415.1_Silent_p.P932P|ARHGEF10L_ENST00000434513.1_Silent_p.P966P|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Silent_p.P744P|ARHGEF10L_ENST00000167825.4_Silent_p.P674P NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 971 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity p.P971P(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CTGTGGGGCCCGGGCCTGTCC 0.692000 7 20 0 0 1 0 0 ALG10 84920 broad.mit.edu 37 12 34179015 34179015 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:34179015G>A ENST00000266483.2 + 3 906 c.587G>A c.(586-588)tGt>tAt p.C196Y ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 196 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) GCTGTCTTCTGTGCAGGAAAT 0.403000 136 173 0 0 1 0 0 SLC13A5 284111 broad.mit.edu 37 17 6609969 6609969 + Missense_Mutation SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:6609969C>A ENST00000433363.2 - 3 593 c.360G>T c.(358-360)aaG>aaT p.K120N SLC13A5_ENST00000381074.4_Missense_Mutation_p.K77N|SLC13A5_ENST00000573648.1_Missense_Mutation_p.K120N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K120N NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 120 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 ACCGTGCAGGCTTGGCCCCCA 0.647000 3 21 0.004672 0.00481562 1 1 0 BMP2K 55589 broad.mit.edu 37 4 79792103 79792103 + Silent SNP G G A rs141745080 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:79792103G>A ENST00000335016.5 + 11 1564 c.1398G>A c.(1396-1398)caG>caA p.Q466Q BMP2K_ENST00000502871.1_Silent_p.Q466Q NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 466 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 agcagcagcagcagcaacagc 0.547000 11 14 0 0 1 0 0 DCTN3 11258 broad.mit.edu 37 9 34618739 34618739 + Missense_Mutation SNP T T C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:34618739T>C ENST00000447983.2 - 2 168 c.115A>G c.(115-117)Aag>Gag p.K39E DCTN3_ENST00000341694.2_Missense_Mutation_p.K39E|DCTN3_ENST00000477738.2_Missense_Mutation_p.K39E|DCTN3_ENST00000259632.7_Missense_Mutation_p.K39E|DCTN3_ENST00000378913.2_Missense_Mutation_p.K39E|DCTN3_ENST00000378916.4_Missense_Mutation_p.K39E O75935 DCTN3_HUMAN dynactin 3 (p22) 39 cytokinesis|G2/M transition of mitotic cell cycle|mitosis centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle protein binding|structural molecule activity large_intestine(1)|skin(1) 2 all_epithelial(49;0.0863) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.0388) ACCTGCACCTTGACCAGGCCG 0.502000 16 37 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4843542 4843542 + Silent SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:4843542G>A ENST00000322110.5 + 1 992 c.927G>A c.(925-927)aaG>aaA p.K309K MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAGTGTAAAGATTAAGCAGA 0.383000 126 100 0 0 1 0 0 SUN3 256979 broad.mit.edu 37 7 48068414 48068414 + Splice_Site SNP C C A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:48068414C>A ENST00000297325.4 - 1 281 c.122_splice c.e1+1 p.G41_splice SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000412142.1_5'UTR|SUN3_ENST00000395572.2_Splice_Site_p.G41_splice NM_001030019.1 NP_001025190.1 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 3 41 integral to membrane central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GTTTACCTACCCATTCGCATC 0.463000 23 100 7.41877e-09 8.27534e-09 1 1 0 CASP8 841 broad.mit.edu 37 2 202141691 202141691 + Splice_Site SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:202141691G>A ENST00000358485.4 + 7 1175 c.979_splice c.e7+1 p.G327_splice CASP8_ENST00000432109.2_Splice_Site_p.G268_splice|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000264275.5_Splice_Site_p.G285_splice|CASP8_ENST00000323492.7_Splice_Site_p.G253_splice NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 268 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CTTGGATGCAGGTACAGTAGA 0.373000 HNSCC(4;0.00038) 8 68 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169513569 169513569 + Missense_Mutation SNP C C T rs140530655 byFrequency TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:169513569C>T ENST00000367796.3 - 12 2156 c.1955G>A c.(1954-1956)cGt>cAt p.R652H F5_ENST00000367797.3_Missense_Mutation_p.R647H P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 647 F5/8 type A 2.|Plastocyanin-like 4. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AGATTCTCCACGCATGGGGAA 0.473000 27 49 0 0 1 0 0 B3GALT6 126792 broad.mit.edu 37 1 1168240 1168240 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:1168240delG ENST00000379198.2 + 1 612 c.582delG c.(580-582)ccfs p.P194fs NM_080605.3 NP_542172.2 Q96L58 B3GT6_HUMAN UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 194 glycosaminoglycan biosynthetic process|protein glycosylation Golgi cisterna membrane|Golgi medial cisterna|integral to membrane galactosylxylosylprotein 3-beta-galactosyltransferase activity lung(3) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCGTCAAGCCGGGGGGGCGCT 0.771 4 7 --- --- --- --- MRPS15 64960 broad.mit.edu 37 1 36921846 36921846 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:36921846delG ENST00000373116.5 - 7 739 c.578delC c.(577-579)ctfs p.P193fs MRPS15_ENST00000488606.1_5'UTR NM_031280.3 NP_112570.2 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 193 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1) 14 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTAATACAGAGGGGGGAAGGT 0.512 10 83 --- --- --- --- SZT2 23334 broad.mit.edu 37 1 43888902 43888902 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:43888902delC ENST00000562955.1 + 15 2170 c.2170delC c.(2170-2172)ccfs p.P725fs SZT2_ENST00000372442.1_5'UTR NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 725 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CTCCAAGTCACCCCCCGTGCT 0.627 8 26 --- --- --- --- CYP4Z2P 163720 broad.mit.edu 37 1 47339125 47339125 + RNA DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:47339125delC ENST00000505841.1 - 0 775 NR_002788.2 CCCCCTGGCACCCCCCCCATG 0.443 5 10 --- --- --- --- GLIS1 148979 broad.mit.edu 37 1 54060231 54060232 + Frame_Shift_Ins INS - - C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:54060231_54060232insC ENST00000312233.2 - 3 910_911 c.344_345insG c.(343-345)gccfs p.A115fs NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 115 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GCTTGGAAGGGCCCCCCAGATC 0.649 17 62 --- --- --- --- TGFBR3 7049 broad.mit.edu 37 1 92200471 92200473 + In_Frame_Del DEL AGG AGG - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:92200471_92200473delAGG ENST00000212355.4 - 5 893_895 c.428_430delCCT c.(427-432)ttg>t p.SL143del TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000370399.2_In_Frame_Del_p.SL143del|TGFBR3_ENST00000525962.1_In_Frame_Del_p.SL143del NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 143 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TCTGCTGTCAAGGAGAAGTTTGC 0.438 88 90 --- --- --- --- PHTF1 10745 broad.mit.edu 37 1 114242392 114242393 + Frame_Shift_Ins INS - - T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:114242392_114242393insT ENST00000369604.1 - 17 2558_2559 c.2075_2076insA c.(2074-2076)accfs p.T692fs PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369598.1_Frame_Shift_Ins_p.T647fs|PHTF1_ENST00000393357.2_Frame_Shift_Ins_p.T692fs|PHTF1_ENST00000369596.2_Frame_Shift_Ins_p.T639fs|PHTF1_ENST00000369600.1_Frame_Shift_Ins_p.T639fs Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 692 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTTATTTGGCTTTTTTTCCAT 0.282 10 31 --- --- --- --- RSBN1 54665 broad.mit.edu 37 1 114310991 114310991 + Frame_Shift_Del DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:114310991delT ENST00000261441.5 - 5 1742 c.1679delA c.(1678-1680)atfs p.N560fs NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 560 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTGGAGATTTTTTATTTC 0.408 58 48 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391923 143391924 + RNA DEL AT AT - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:143391923_143391924delAT ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA TATTTTGGAGATATATATATAT 0.262 7 11 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147092657 147092659 + In_Frame_Del DEL CAG CAG - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:147092657_147092659delCAG ENST00000234739.3 + 8 3436_3438 c.2696_2698delCAG c.(2695-2700)cct>c p.PA899del NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 899 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CTGGCGGGCCCAGCTGCTGCTGC 0.626 T """IGH@, IGL@""" B-ALL 13 88 --- --- --- --- NES 10763 broad.mit.edu 37 1 156642804 156642804 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:156642804delG ENST00000368223.3 - 4 1308 c.1176delC c.(1174-1176)ccfs p.P392fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 392 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTGAGGTGTGGGGGGGATGG 0.597 53 171 --- --- --- --- AVPR1B 553 broad.mit.edu 37 1 206224854 206224854 + Frame_Shift_Del DEL C C - rs146412534 byFrequency TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr1:206224854delC ENST00000367126.4 + 1 879 c.414delC c.(412-414)cafs p.H138fs NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 138 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CTGTCTGTCACCCCCTGCGCA 0.622 13 89 --- --- --- --- GRHL1 29841 broad.mit.edu 37 2 10102641 10102642 + Frame_Shift_Ins INS - - T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:10102641_10102642insT ENST00000324907.9 + 5 863_864 c.727_728insT c.(727-729)tttfs p.F243fs GRHL1_ENST00000405379.2_Frame_Shift_Ins_p.F243fs|GRHL1_ENST00000324883.5_Intron NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 243 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) AGAGGACTATGTTTTTGACAGT 0.342 11 33 --- --- --- --- SNRNP27 11017 broad.mit.edu 37 2 70131463 70131463 + Frame_Shift_Del DEL T T - rs79372020 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:70131463delT ENST00000409116.1 + 5 452 c.426delT c.(424-426)gafs p.D142fs SNRNP27_ENST00000244227.3_3'UTR Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 0 mRNA processing|RNA splicing nucleus nucleic acid binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 11 TGAAGGATGATTTTTTTTCCC 0.348 14 81 --- --- --- --- EXOC6B 23233 broad.mit.edu 37 2 72740374 72740375 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:72740374_72740375insA ENST00000272427.6 - 11 1183_1184 c.1053_1054insT c.(1051-1056)tttggtfs p.G352fs EXOC6B_ENST00000410104.1_Frame_Shift_Ins_p.G352fs NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 352 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 TCTTCAACCACAAAAAAGCTAA 0.376 14 83 --- --- --- --- C2orf78 388960 broad.mit.edu 37 2 74043174 74043175 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:74043174_74043175insA ENST00000409561.1 + 3 1945_1946 c.1824_1825insA c.(1822-1827)aaaaaafs p.KK608fs NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 608 Lys-rich. cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TGAAACGGAAGAAAAATCAACC 0.450 8 55 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98378554 98378554 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:98378554delG ENST00000186436.5 - 36 5061 c.4833delC c.(4831-4833)ccfs p.P1611fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1611 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 CAAAGGGGCAGGGGGCAGCTG 0.562 9 29 --- --- --- --- MRPL30 51263 broad.mit.edu 37 2 99804703 99804704 + Frame_Shift_Del DEL TC TC - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:99804703_99804704delTC ENST00000338148.3 + 3 313_314 c.115_116delTC c.(115-117)afs p.S39fs C2orf15_ENST00000512183.2_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000410042.1_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000409145.1_Frame_Shift_Del_p.S39fs|MRPL30_ENST00000465432.1_Intron NM_145212.3 NP_660213.1 Q8TCC3 RM30_HUMAN mitochondrial ribosomal protein L30 39 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 ATTCACCAGATCAAGAATTCCA 0.282 12 33 --- --- --- --- AFF3 3899 broad.mit.edu 37 2 100171155 100171155 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:100171155delC ENST00000317233.4 - 22 3560 c.3325delG c.(3325-3327)ccfs p.A1109fs AFF3_ENST00000409579.1_Frame_Shift_Del_p.A1134fs|AFF3_ENST00000356421.2_Frame_Shift_Del_p.A1134fs|AFF3_ENST00000409236.1_Frame_Shift_Del_p.A1109fs NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 1109 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TTTCCACTGGCCCCCCACGGA 0.522 9 80 --- --- --- --- BUB1 699 broad.mit.edu 37 2 111413465 111413465 + Frame_Shift_Del DEL A A - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:111413465delA ENST00000535254.1 - 15 1734 c.1667delT c.(1666-1668)tgfs p.L556fs BUB1_ENST00000302759.6_Frame_Shift_Del_p.L576fs|BUB1_ENST00000409311.1_Frame_Shift_Del_p.L576fs NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 576 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TGAGTCATCCAAAAACTCTTC 0.438 60 231 --- --- --- --- LRP1B 53353 broad.mit.edu 37 2 141356335 141356336 + Frame_Shift_Ins INS - - T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:141356335_141356336insT ENST00000389484.3 - 43 8029_8030 c.7058_7059insA c.(7057-7059)agcfs p.S2353fs NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2353 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCACTTGAGCATTTTTCCCAGT 0.366 TSP Lung(27;0.18) 25 98 --- --- --- --- ERMN 57471 broad.mit.edu 37 2 158178245 158178247 + In_Frame_Del DEL CTT CTT - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:158178245_158178247delCTT ENST00000410096.1 - 3 682_684 c.391_393delAAG c.(391-393)del p.K131del ERMN_ENST00000535935.1_In_Frame_Del_p.K25del|ERMN_ENST00000409216.1_3'UTR|ERMN_ENST00000420719.2_In_Frame_Del_p.K111del|ERMN_ENST00000397283.2_In_Frame_Del_p.K144del NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 131 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 TAATCCTCTCCTTCTGTCTTCTT 0.448 24 80 --- --- --- --- HOXD13 3239 broad.mit.edu 37 2 176957811 176957813 + In_Frame_Del DEL GCG GCG - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:176957811_176957813delGCG ENST00000392539.3 + 1 193_195 c.193_195delGCG c.(193-195)del p.A71del NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 71 Poly-Ala. skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) agcggcggctgcggcggcggcgg 0.773 T NUP98 AML* 3 4 --- --- --- --- ALS2 57679 broad.mit.edu 37 2 202622168 202622169 + Frame_Shift_Del DEL CT CT - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:202622168_202622169delCT ENST00000264276.6 - 5 1799_1800 c.1427_1428delAG c.(1426-1428)gfs p.E476fs NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 476 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 GACTGCCTCCCTCTGTTTCTTC 0.436 52 84 --- --- --- --- AC072062.1 0 broad.mit.edu 37 2 215712226 215712227 + RNA INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:215712226_215712227insA ENST00000607412.1 + 0 321 TACTTCCTGTCAAAAAAATGTC 0.386 8 32 --- --- --- --- SPEG 10290 broad.mit.edu 37 2 220312872 220312872 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:220312872delC ENST00000312358.7 + 4 1124 c.992delC c.(991-993)acfs p.T331fs SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Frame_Shift_Del_p.T227fs|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 331 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCGCGGCCACCCCCACGTCG 0.736 7 15 --- --- --- --- HJURP 55355 broad.mit.edu 37 2 234749677 234749679 + In_Frame_Del DEL TTC TTC - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr2:234749677_234749679delTTC ENST00000411486.2 - 8 1812_1814 c.1747_1749delGAA c.(1747-1749)del p.E583del HJURP_ENST00000441687.1_In_Frame_Del_p.E498del|HJURP_ENST00000432087.1_In_Frame_Del_p.E529del NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 583 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) GCTTGTCAAATTCTTCTTTAATT 0.404 18 165 --- --- --- --- CELSR3 1951 broad.mit.edu 37 3 48699646 48699648 + In_Frame_Del DEL GAG GAG - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:48699646_48699648delGAG ENST00000544264.1 - 1 700_702 c.420_422delCTC c.(418-423)tct>tc p.SS140del CELSR3_ENST00000164024.4_In_Frame_Del_p.SS140del Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 140 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCGCCCGCAAGAGGAGACCTCTG 0.635 69 38 --- --- --- --- RBM6 10180 broad.mit.edu 37 3 50099449 50099450 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:50099449_50099450insA ENST00000443081.1 + 15 3017_3018 c.2098_2099insA c.(2098-2100)aaafs p.K700fs RBM6_ENST00000442092.1_Frame_Shift_Ins_p.K310fs|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Frame_Shift_Ins_p.K310fs|RBM6_ENST00000266022.4_Frame_Shift_Ins_p.K832fs|RBM6_ENST00000539992.1_Frame_Shift_Ins_p.K174fs P78332 RBM6_HUMAN RNA binding motif protein 6 832 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) AGAGATCAAGGAAAAAAAACCC 0.426 41 19 --- --- --- --- NT5DC2 64943 broad.mit.edu 37 3 52559266 52559266 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:52559266delG ENST00000307076.4 - 11 1454 c.1054delC c.(1054-1056)gcfs p.R352fs NT5DC2_ENST00000422318.2_Frame_Shift_Del_p.R389fs|NT5DC2_ENST00000307092.4_Frame_Shift_Del_p.R293fs|NT5DC2_ENST00000459839.1_Frame_Shift_Del_p.R364fs NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 352 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) TAGAGCACGCGGGGGCCACGC 0.642 11 24 --- --- --- --- ZBTB20 26137 broad.mit.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:114058003delG ENST00000462705.1 - 12 2677 c.1856delC c.(1855-1857)ctfs p.P619fs ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.P692fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 692 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P619fs*43(1) breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TGTGCCTGCAGGGGGGGTCCC 0.632 25 68 --- --- --- --- PLCH1 23007 broad.mit.edu 37 3 155301373 155301374 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:155301373_155301374insA ENST00000460012.1 - 6 925_926 c.568_569insT c.(568-570)caafs p.Q190fs PLCH1_ENST00000447496.2_Frame_Shift_Ins_p.Q208fs|PLCH1_ENST00000414191.1_Frame_Shift_Ins_p.Q190fs|PLCH1_ENST00000334686.6_Frame_Shift_Ins_p.Q190fs|PLCH1_ENST00000494598.1_Frame_Shift_Ins_p.Q208fs|PLCH1_ENST00000340059.7_Frame_Shift_Ins_p.Q208fs Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 208 EF-hand 2. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CATCATTTTGTAAAAAACACAG 0.361 18 73 --- --- --- --- SLC33A1 9197 broad.mit.edu 37 3 155560343 155560344 + Frame_Shift_Ins INS - - T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr3:155560343_155560344insT ENST00000392845.2 - 2 1220_1221 c.840_841insA c.(838-843)aaaaaafs p.KK280fs SLC33A1_ENST00000359479.3_Frame_Shift_Ins_p.KK280fs NM_004733.3 NP_004724.1 O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 280 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) ACTTCGTTTTCTTTTTTCAGAA 0.292 8 86 --- --- --- --- HGFAC 3083 broad.mit.edu 37 4 3449218 3449219 + Splice_Site INS - - C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:3449218_3449219insC ENST00000382774.3 + 11 1470_1471 c.e11-1 HGFAC_ENST00000511533.1_Splice_Site NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator proteolysis extracellular space protein binding|serine-type endopeptidase activity p.R455fs*91(1) central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCCTTGCACAGCCCCCCCAGGG 0.673 8 101 --- --- --- --- RBPJ 3516 broad.mit.edu 37 4 26426078 26426078 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:26426078delG ENST00000342320.4 + 6 784 c.608delG c.(607-609)tgfs p.W203fs RBPJ_ENST00000507561.1_Frame_Shift_Del_p.W182fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.W203fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.W204fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.W217fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.W202fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.W203fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.W217fs Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 217 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) TCACAGCAGTGGGGAGCCTTT 0.363 99 35 --- --- --- --- FAM175A 84142 broad.mit.edu 37 4 84390298 84390298 + Frame_Shift_Del DEL A A - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr4:84390298delA ENST00000321945.7 - 6 591 c.483delT c.(481-483)ttfs p.F161fs FAM175A_ENST00000506553.1_Frame_Shift_Del_p.F112fs|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000505489.1_5'UTR NM_139076.2 NP_620775.2 Q6UWZ7 F175A_HUMAN family with sequence similarity 175, member A 161 chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation BRCA1-A complex polyubiquitin binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 13 GTACCCTGTGAAAAAGTCTGA 0.378 7 127 --- --- --- --- SDHAP3 728609 broad.mit.edu 37 5 1593156 1593156 + RNA DEL A A - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:1593156delA ENST00000436493.2 - 0 398 accctttctcaaaaaaaagaa 0.507 10 16 --- --- --- --- TRIO 7204 broad.mit.edu 37 5 14477004 14477004 + Splice_Site DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:14477004delT ENST00000344204.4 + 41 6109 c.6083_splice c.e41-1 p.F2030_splice TRIO_ENST00000537187.1_Splice_Site_p.F2030_splice NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2030 DH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TCTTTCCAGCTTTTTTTTAGG 0.308 16 64 --- --- --- --- HARS2 23438 broad.mit.edu 37 5 140078098 140078098 + Frame_Shift_Del DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:140078098delT ENST00000230771.3 + 13 1705 c.1482delT c.(1480-1482)aafs p.N494fs HARS2_ENST00000508522.1_Frame_Shift_Del_p.N469fs|HARS2_ENST00000437649.2_Frame_Shift_Del_p.N420fs|HARS2_ENST00000435019.2_Frame_Shift_Del_p.N454fs|HARS2_ENST00000432671.2_Frame_Shift_Del_p.N380fs|HARS2_ENST00000448069.2_Frame_Shift_Del_p.N322fs NM_012208.2 NP_036340.1 P49590 SYHM_HUMAN histidyl-tRNA synthetase 2, mitochondrial 494 histidyl-tRNA aminoacylation mitochondrial matrix ATP binding|histidine-tRNA ligase activity NS(1)|endometrium(3)|large_intestine(5)|lung(10) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGGGAAAATTTTGTGGCTG 0.398 8 218 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176696801 176696802 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr5:176696801_176696802insA ENST00000439151.2 + 16 5547_5548 c.5502_5503insA c.(5500-5505)taaaaafs p.*K1834fs NSD1_ENST00000347982.4_Frame_Shift_Ins_p.*K1565fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.*K1731fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.*K1565fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1834 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding p.A1837fs*10(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) ATGGGACATATAAAAAAGGTAA 0.426 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 31 19 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30652622 30652623 + Frame_Shift_Del DEL CT CT - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:30652622_30652623delCT ENST00000274853.3 - 1 3049_3050 c.1173_1174delAG c.(1171-1176)agccfs p.RA391fs PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Frame_Shift_Del_p.RA391fs NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 391 cytoplasm|cytoskeleton actin binding TTCTGCAGGGCTCTCAGAGGCC 0.649 9 102 --- --- --- --- SLC44A4 80736 broad.mit.edu 37 6 31842534 31842535 + Frame_Shift_Ins INS - - T rs114957103 by1000genomes TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:31842534_31842535insT ENST00000544672.1 - 6 499_500 c.203_204insA c.(202-204)aagfs p.K68fs SLC44A4_ENST00000229729.6_Frame_Shift_Ins_p.K144fs|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Intron NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 144 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) AAAAGTTCCTGTTTTTTGTATA 0.545 21 77 --- --- --- --- GLTSCR1L 23506 broad.mit.edu 37 6 42832626 42832627 + Frame_Shift_Ins INS - - A rs139801339 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:42832626_42832627insA ENST00000314073.5 + 13 2858_2859 c.2682_2683insA c.(2680-2685)tcaaaafs p.SK894fs GLTSCR1L_ENST00000394168.1_Frame_Shift_Ins_p.SK894fs GLTSCR1-like GAAACATTTCTAAAAAAACAGA 0.490 11 65 --- --- --- --- SH3BGRL2 83699 broad.mit.edu 37 6 80406213 80406213 + Frame_Shift_Del DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:80406213delT ENST00000369838.4 + 3 422 c.243delT c.(241-243)agfs p.S81fs NM_031469.2 NP_113657.1 Q9UJC5 SH3L2_HUMAN SH3 domain binding glutamic acid-rich protein like 2 81 nucleus SH3 domain binding large_intestine(2)|lung(3) 5 all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174) BRCA - Breast invasive adenocarcinoma(397;0.0278) ATTATGACAGTTTTTTTGAAT 0.313 67 113 --- --- --- --- MCHR2 84539 broad.mit.edu 37 6 100382358 100382358 + Frame_Shift_Del DEL A A - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:100382358delA ENST00000281806.2 - 5 937 c.623delT c.(622-624)tcfs p.F208fs MCHR2_ENST00000445970.1_Frame_Shift_Del_p.F208fs|MCHR2_ENST00000369212.1_Frame_Shift_Del_p.F208fs NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 208 integral to membrane|plasma membrane G-protein coupled receptor activity p.F208fs*5(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GGGTAGAGGGAAAAAAAAAGT 0.343 71 123 --- --- --- --- BEND3 57673 broad.mit.edu 37 6 107389947 107389947 + Frame_Shift_Del DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:107389947delT ENST00000429433.2 - 5 3097 c.2448delA c.(2446-2448)aafs p.K816fs BEND3_ENST00000369042.1_Frame_Shift_Del_p.K816fs NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 816 BEN 4. central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 GGATGTCGCATTTTTTCCTGT 0.577 57 75 --- --- --- --- SCML4 256380 broad.mit.edu 37 6 108076790 108076791 + Frame_Shift_Ins INS - - G rs75302347 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:108076790_108076791insG ENST00000369021.3 - 1 52_53 c.53_54insC c.(52-54)cttfs p.L18fs SCML4_ENST00000369020.3_Intron|SCML4_ENST00000369022.2_Intron Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) TCCAGTGGAATGGGGGGGTTCT 0.480 23 115 --- --- --- --- RPF2 84154 broad.mit.edu 37 6 111329324 111329324 + Frame_Shift_Del DEL A A - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:111329324delA ENST00000441448.2 + 7 569 c.477delA c.(475-477)ctfs p.L159fs NM_032194.1 NP_115570.1 Q9H7B2 RPF2_HUMAN ribosome production factor 2 homolog (S. cerevisiae) 159 Brix. nucleolus protein binding p.L159_S161del(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 ATAGAAGACTAAAAAGTCTTC 0.353 22 95 --- --- --- --- GOPC 57120 broad.mit.edu 37 6 117884426 117884426 + Frame_Shift_Del DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:117884426delT ENST00000535237.1 - 9 1609 c.1380delA c.(1378-1380)aafs p.K460fs GOPC_ENST00000368498.2_Frame_Shift_Del_p.K460fs|GOPC_ENST00000052569.6_Frame_Shift_Del_p.K452fs|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Intron golgi-associated PDZ and coiled-coil motif containing GOPC/ROS1(14) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) TTTAATAAGATTTTTTATGAT 0.408 O ROS1 glioblastoma 36 126 --- --- --- --- TRDN 10345 broad.mit.edu 37 6 123786032 123786033 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr6:123786032_123786033insA ENST00000546248.1 - 9 1022_1023 c.889_890insT c.(889-891)ttafs p.L297fs RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000334268.4_Intron|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA NM_001256020.1 NP_001242949.1 Q13061 TRDN_HUMAN triadin 0 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) AGATCTTTAAGAAAAAAAAAAG 0.386 3 5 --- --- --- --- CASD1 64921 broad.mit.edu 37 7 94185016 94185017 + Frame_Shift_Ins INS - - T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:94185016_94185017insT ENST00000297273.4 + 18 2627_2628 c.2340_2341insT c.(2338-2343)gcttttfs p.AF780fs NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 780 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GTATAGCTGCATTTTTTTGTGG 0.342 12 86 --- --- --- --- CBLL1 79872 broad.mit.edu 37 7 107399402 107399402 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:107399402delC ENST00000440859.2 + 6 1722 c.1255delC c.(1255-1257)ccfs p.P421fs CBLL1_ENST00000222597.2_Frame_Shift_Del_p.P420fs NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 421 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 TGTAACTGCACCCCCTCCTCA 0.517 37 82 --- --- --- --- KDM7A 80853 broad.mit.edu 37 7 139833448 139833448 + Frame_Shift_Del DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:139833448delT ENST00000397560.2 - 3 386 c.289delA c.(289-291)ggfs p.R98fs JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.R98fs NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 98 Linker. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) CAGTTCCTCCTTTTTTTCACT 0.338 20 73 --- --- --- --- OR6V1 346517 broad.mit.edu 37 7 142749550 142749551 + Frame_Shift_Ins INS - - G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr7:142749550_142749551insG ENST00000418316.1 + 1 134_135 c.113_114insG c.(112-114)aggfs p.R38fs NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) CTCGCCTTCATGGGAAACACCA 0.500 55 169 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673270 6673270 + RNA DEL A A - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:6673270delA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCCATTGTAAAAAAAAAAA 0.502 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 --- --- --- --- DMTN 2039 broad.mit.edu 37 8 21926551 21926552 + Frame_Shift_Ins INS - - C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:21926551_21926552insC ENST00000358242.3 + 5 767_768 c.274_275insC c.(274-276)cccfs p.P92fs DMTN_ENST00000517600.1_Intron|DMTN_ENST00000381470.3_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000523782.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000523266.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000519907.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000265800.5_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000443491.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000432128.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000415253.1_Frame_Shift_Ins_p.P92fs dematin actin binding protein CAAATCCACATCCCCCCCACCA 0.604 12 90 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55538415 55538416 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:55538415_55538416insA ENST00000220676.1 + 4 2121_2122 c.1973_1974insA c.(1972-1974)caafs p.Q658fs NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 658 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACAAAACTTCCAAAAAATGAAA 0.366 14 82 --- --- --- --- RP11-941H19.3 0 broad.mit.edu 37 8 81213788 81213788 + RNA DEL C C - rs71266069 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:81213788delC ENST00000522044.1 + 0 404 CCCCCCACCACcacacacaca 0.552 4 5 --- --- --- --- TBC1D31 93594 broad.mit.edu 37 8 124140520 124140521 + Splice_Site INS - - T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr8:124140520_124140521insT ENST00000287380.1 + 14 1974_1975 c.e14-1 TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000327098.5_Splice_Site NM_145647.3 NP_663622.2 TBC1 domain family, member 31 TTTTCTTACAGTTTTTTTTTCA 0.322 9 150 --- --- --- --- SH3GL2 6456 broad.mit.edu 37 9 17793391 17793392 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:17793391_17793392insA ENST00000380607.4 + 8 875_876 c.755_756insA c.(754-756)aagfs p.K252fs SH3GL2_ENST00000537391.1_Frame_Shift_Ins_p.K205fs NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 252 axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) TCTCAGCCTAGAAGGGAATATC 0.426 26 32 --- --- --- --- CNTRL 11064 broad.mit.edu 37 9 123917020 123917021 + Frame_Shift_Del DEL TG TG - rs3736855 byFrequency TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:123917020_123917021delTG ENST00000373855.1 + 27 4454_4455 c.4194_4195delTG c.(4192-4197)gtagfs p.VE1398fs CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Frame_Shift_Del_p.VE846fs|CNTRL_ENST00000238341.5_Frame_Shift_Del_p.VE1398fs|CNTRL_ENST00000373847.1_Frame_Shift_Del_p.VE846fs Q7Z7A1 CNTRL_HUMAN centriolin 1398 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 ATGGAAATGTTGAGAGTCTTAT 0.307 22 8 --- --- --- --- RAPGEF1 2889 broad.mit.edu 37 9 134504527 134504527 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr9:134504527delG ENST00000372195.1 - 7 1098 c.855delC c.(853-855)ccfs p.P285fs RAPGEF1_ENST00000372189.3_Frame_Shift_Del_p.P268fs|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Frame_Shift_Del_p.P286fs Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 268 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GAGGAGGCTTGGGGGGCGCGA 0.537 18 45 --- --- --- --- ITGB1 3688 broad.mit.edu 37 10 33208969 33208969 + Frame_Shift_Del DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:33208969delT ENST00000396033.2 - 11 1448 c.1313delA c.(1312-1314)agfs p.K438fs ITGB1_ENST00000302278.3_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000374956.4_Frame_Shift_Del_p.K438fs|ITGB1_ENST00000423113.1_Frame_Shift_Del_p.K438fs NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 438 axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) GTCAGAATCCTTTTTTGGACA 0.338 81 257 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55566748 55566749 + Frame_Shift_Del DEL AT AT - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:55566748_55566749delAT ENST00000373965.2 - 36 5039_5040 c.4645_4646delAT c.(4645-4647)tfs p.I1549fs PCDH15_ENST00000414778.1_Frame_Shift_Del_p.I1546fs NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ATTCTGTGCAATATATATATTG 0.470 HNSCC(58;0.16) 38 21 --- --- --- --- USP54 159195 broad.mit.edu 37 10 75299343 75299344 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:75299343_75299344insA ENST00000339859.4 - 9 933_934 c.833_834insT c.(832-834)tagfs p.*278fs USP54_ENST00000319786.7_Frame_Shift_Ins_p.*278fs|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Frame_Shift_Ins_p.*278fs|USP54_ENST00000428547.1_Frame_Shift_Ins_p.*128fs|USP54_ENST00000497106.1_5'UTR Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 278 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) CCGTCACTCTGAAAAACAGCTG 0.401 30 34 --- --- --- --- PSD 5662 broad.mit.edu 37 10 104174659 104174661 + In_Frame_Del DEL TCT TCT - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:104174659_104174661delTCT ENST00000020673.5 - 4 1609_1611 c.1083_1085delAGA c.(1081-1086)gat>ga p.ED361del PSD_ENST00000406432.1_In_Frame_Del_p.ED361del NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 361 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GTCGTCCACATCTTCTTCCCCAC 0.660 43 12 --- --- --- --- INPP5F 22876 broad.mit.edu 37 10 121556338 121556339 + Frame_Shift_Ins INS - - C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr10:121556338_121556339insC ENST00000361976.2 + 7 947_948 c.781_782insC c.(781-783)cccfs p.P261fs INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.P261fs NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 261 SAC. phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CAGCCCAGAGACCCCCCCTCAG 0.480 10 58 --- --- --- --- KRTAP5-1 387264 broad.mit.edu 37 11 1605893 1605893 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:1605893delC ENST00000382171.2 - 1 620 c.587delG c.(586-588)gtfs p.G196fs KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 196 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGAGCCACAACCCCCCTTGGA 0.672 15 162 --- --- --- --- CYB5R2 51700 broad.mit.edu 37 11 7690551 7690552 + Frame_Shift_Ins INS - - T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:7690551_7690552insT ENST00000533558.1 - 5 828_829 c.272_273insA c.(271-273)agtfs p.S91fs CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.S91fs|CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.S91fs|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.S91fs Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase 2 91 FAD-binding FR-type. sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGGGGTGTACATTTTTGAAGTA 0.460 24 162 --- --- --- --- TMEM41B 440026 broad.mit.edu 37 11 9304991 9304992 + Frame_Shift_Ins INS - - T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:9304991_9304992insT ENST00000528080.1 - 7 1193_1194 c.855_856insA c.(853-858)aataaafs p.NK285fs NM_015012.3 NP_055827.1 Q5BJD5 TM41B_HUMAN transmembrane protein 41B 285 integral to membrane kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2) 7 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) TTCTGCTTTAGTTTTTTTTGGA 0.342 41 43 --- --- --- --- MPEG1 219972 broad.mit.edu 37 11 58978660 58978660 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:58978660delC ENST00000361050.3 - 1 1764 c.1679delG c.(1678-1680)gcfs p.G560fs NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 560 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) CTGGCTGAAGCCCCCGGGGCA 0.592 31 66 --- --- --- --- MAP3K11 4296 broad.mit.edu 37 11 65375418 65375418 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:65375418delG ENST00000309100.3 - 3 1529 c.1044delC c.(1042-1044)ccfs p.P348fs MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.P91fs NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 348 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 CGAAGGGCTCGGGGCAGGTGG 0.617 7 25 --- --- --- --- SSH3 54961 broad.mit.edu 37 11 67077586 67077587 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:67077586_67077587insA ENST00000308127.4 + 13 1637_1638 c.1459_1460insA c.(1459-1461)gcafs p.A487fs SSH3_ENST00000376757.5_Intron|SSH3_ENST00000308298.7_Intron NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 487 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CTCCCCAGAGGAGCACCCAGCC 0.629 37 61 --- --- --- --- MED17 9440 broad.mit.edu 37 11 93517824 93517825 + Frame_Shift_Del DEL TT TT - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:93517824_93517825delTT ENST00000251871.3 + 1 432_433 c.145_146delTT c.(145-147)cfs p.F49fs MED17_ENST00000530819.1_Frame_Shift_Del_p.F49fs NM_004268.4 NP_004259.3 Q9NVC6 MED17_HUMAN mediator complex subunit 17 49 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(2)|lung(11)|ovary(1) 14 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GCGGATAGACTTCAGCCAGGGT 0.703 3 3 --- --- --- --- AMOTL1 154810 broad.mit.edu 37 11 94533350 94533351 + Frame_Shift_Ins INS - - T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:94533350_94533351insT ENST00000433060.2 + 3 1135_1136 c.994_995insT c.(994-996)tttfs p.F332fs AMOTL1_ENST00000317837.9_Frame_Shift_Ins_p.F332fs|AMOTL1_ENST00000317829.8_Frame_Shift_Ins_p.F282fs NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 332 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) GGAGCACGGACTTTTTTATGGT 0.589 39 127 --- --- --- --- APOA4 337 broad.mit.edu 37 11 116692031 116692033 + In_Frame_Del DEL TTC TTC - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:116692031_116692033delTTC ENST00000357780.3 - 3 855_857 c.741_743delGAA c.(739-744)aac>aa p.KN247del NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CTCCTCGGCGTTCTTCTTCATCT 0.655 38 64 --- --- --- --- OR8B4 283162 broad.mit.edu 37 11 124294014 124294015 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr11:124294014_124294015insA ENST00000356130.3 - 1 774_775 c.753_754insT c.(751-756)ttggtcfs p.LV251fs NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GTCCCTGACCCAAAAAACAGAG 0.450 30 11 --- --- --- --- RP11-885B4.1 0 broad.mit.edu 37 12 2851938 2851938 + RNA DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:2851938delT ENST00000540093.1 - 0 73 AGTTGGTACCTTTTTGGGTGA 0.468 3 6 --- --- --- --- PIANP 196500 broad.mit.edu 37 12 6806838 6806839 + Frame_Shift_Ins INS - - G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:6806838_6806839insG ENST00000534837.1 - 3 366_367 c.137_138insC c.(136-138)ctgfs p.L46fs PIANP_ENST00000320591.5_Frame_Shift_Ins_p.L46fs|PIANP_ENST00000540656.1_Frame_Shift_Ins_p.L46fs NM_001244014.1 NP_001230943.1 PILR alpha associated neural protein CCCTGGCACACGGGGGGCGGGC 0.693 3 4 --- --- --- --- KLHL42 57542 broad.mit.edu 37 12 27950769 27950769 + Frame_Shift_Del DEL G G - rs145908611 byFrequency TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:27950769delG ENST00000381271.2 + 3 1499 c.1188delG c.(1186-1188)gtfs p.V396fs NM_020782.1 NP_065833.1 kelch-like family member 42 TCTACATCGTGGGGGGGTGTC 0.592 48 206 --- --- --- --- NCKAP5L 57701 broad.mit.edu 37 12 50189460 50189461 + Frame_Shift_Ins INS - - C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:50189460_50189461insC ENST00000335999.6 - 8 2383_2384 c.2182_2183insG c.(2182-2184)agtfs p.S728fs NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 724 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CAAGGCCACTGCCCCCCGTATC 0.653 7 21 --- --- --- --- BEST3 144453 broad.mit.edu 37 12 70049362 70049362 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:70049362delG ENST00000330891.5 - 10 1558 c.1332delC c.(1330-1332)ccfs p.P444fs BEST3_ENST00000488961.1_Frame_Shift_Del_p.P231fs|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Del_p.P338fs NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 444 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GTGAGGCCCTGGGGGGGTTTC 0.592 46 70 --- --- --- --- KDM2B 84678 broad.mit.edu 37 12 121947745 121947747 + In_Frame_Del DEL CTC CTC - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:121947745_121947747delCTC ENST00000377069.4 - 11 1583_1585 c.1177_1179delGAG c.(1177-1179)del p.E393del KDM2B_ENST00000538046.2_In_Frame_Del_p.E334del|KDM2B_ENST00000377071.4_In_Frame_Del_p.E424del|KDM2B_ENST00000536437.1_In_Frame_Del_p.E307del NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 424 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 cctcgtccttctcctcctcctcc 0.650 16 35 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132522263 132522264 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr12:132522263_132522264insA ENST00000333577.4 + 32 6205_6206 c.6096_6097insA c.(6094-6099)ttaaaafs p.LK2032fs EP400_ENST00000332482.4_Frame_Shift_Ins_p.LK1959fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.LK1995fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.LK1996fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.LK1915fs Q96L91 EP400_HUMAN E1A binding protein p400 2032 Helicase C-terminal. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.N1997fs*4(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGAAATTGTTGAAAAATGGAAC 0.436 10 130 --- --- --- --- IFT88 8100 broad.mit.edu 37 13 21205180 21205180 + Frame_Shift_Del DEL A A - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr13:21205180delA ENST00000382778.4 + 17 2470 c.1352delA c.(1351-1353)gafs p.E451fs IFT88_ENST00000319980.6_Frame_Shift_Del_p.E451fs|IFT88_ENST00000351808.5_Frame_Shift_Del_p.E442fs|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000537103.1_Frame_Shift_Del_p.E423fs Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) 451 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) AAAGTGTTGGAAAAAAAGGAC 0.363 101 39 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25541679 25541679 + RNA DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr13:25541679delT ENST00000429698.1 - 0 282 TTGAtttttcttttttttgag 0.393 7 3 --- --- --- --- STARD13 90627 broad.mit.edu 37 13 33684168 33684168 + Frame_Shift_Del DEL G G - rs34251901 byFrequency TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr13:33684168delG ENST00000336934.5 - 12 3005 c.2889delC c.(2887-2889)ccfs p.P963fs STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs|STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 963 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GGACCACTGAGGGGGGTGCTT 0.577 OREG0022359 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 17 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 4 8 --- --- --- --- FAM154B 283726 broad.mit.edu 37 15 82564107 82564107 + Frame_Shift_Del DEL A A - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:82564107delA ENST00000339465.5 + 2 286 c.217delA c.(217-219)aafs p.K74fs FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Frame_Shift_Del_p.K59fs|FAM154B_ENST00000565432.1_Frame_Shift_Del_p.K87fs NM_001008226.1 NP_001008227.1 Q658L1 F154B_HUMAN family with sequence similarity 154, member B 74 autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2) 19 GAGACAAGTTAAAAAAGGAAA 0.393 21 73 --- --- --- --- ACAN 176 broad.mit.edu 37 15 89381922 89381922 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:89381922delC ENST00000439576.2 + 3 473 c.99delC c.(97-99)atfs p.I33fs ACAN_ENST00000558207.1_Frame_Shift_Del_p.I33fs|ACAN_ENST00000559004.1_Frame_Shift_Del_p.I33fs|ACAN_ENST00000561243.1_Frame_Shift_Del_p.I33fs|ACAN_ENST00000352105.7_Frame_Shift_Del_p.I33fs NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 33 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GTGTCAGCATCCCCCAACCGT 0.617 22 96 --- --- --- --- UNC45A 55898 broad.mit.edu 37 15 91479199 91479200 + Frame_Shift_Del DEL AG AG - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr15:91479199_91479200delAG ENST00000394275.2 + 6 1027_1028 c.192_193delAG c.(190-195)acagfs p.TE64fs UNC45A_ENST00000418476.2_Frame_Shift_Del_p.TE79fs|UNC45A_ENST00000553671.2_3'UTR NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 79 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) AAGCAGAAACAGAGGCATCCAA 0.564 32 38 --- --- --- --- ALG1 56052 broad.mit.edu 37 16 5125391 5125391 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:5125391delC ENST00000588623.1 + 5 1160 c.60delC c.(58-60)aafs p.N20fs ALG1_ENST00000262374.5_Frame_Shift_Del_p.N131fs|ALG1_ENST00000544428.1_Frame_Shift_Del_p.N20fs Q9BT22 ALG1_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 131 dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) TTTCCTAGAACCCCCCAGGTC 0.493 33 264 --- --- --- --- FAM86A 196483 broad.mit.edu 37 16 5140283 5140283 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:5140283delG ENST00000427587.4 - 6 612 c.544delC c.(544-546)ggfs p.R182fs FAM86A_ENST00000458008.4_Frame_Shift_Del_p.R148fs|FAM86A_ENST00000587133.1_Frame_Shift_Del_p.R121fs NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 182 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 ATGTATGCCCGGGGGCGGCAC 0.602 7 107 --- --- --- --- FOPNL 123811 broad.mit.edu 37 16 15978038 15978038 + Frame_Shift_Del DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:15978038delT ENST00000255759.6 - 2 82 c.53delA c.(52-54)agfs p.K18fs FOPNL_ENST00000575073.1_Frame_Shift_Del_p.K18fs|FOPNL_ENST00000573396.1_Frame_Shift_Del_p.K18fs|FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000573968.1_Frame_Shift_Del_p.K18fs|FOPNL_ENST00000573429.1_Frame_Shift_Del_p.K18fs NM_144600.2 NP_653201.1 Q96NB1 FOPNL_HUMAN FGFR1OP N-terminal like 18 Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites. cilium assembly|microtubule anchoring centriolar satellite|microtubule basal body|motile cilium identical protein binding breast(1)|large_intestine(1)|lung(5)|stomach(4) 11 TAATACCCCCTTTTTTTCCAA 0.373 24 175 --- --- --- --- SMG1P3 100271836 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 3 4 --- --- --- --- ATXN2L 11273 broad.mit.edu 37 16 28847350 28847350 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:28847350delG ENST00000336783.4 + 22 3159 c.2992delG c.(2992-2994)ggfs p.G999fs ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.G1005fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.G999fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.G999fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.G999fs NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 999 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CCAGAGTCATGGGGGGCCCCC 0.682 10 118 --- --- --- --- ZNF267 10308 broad.mit.edu 37 16 31927006 31927008 + In_Frame_Del DEL TTA TTA - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:31927006_31927008delTTA ENST00000300870.10 + 4 1645_1647 c.1436_1438delTTA c.(1435-1440)ctt>c p.LI479del RP11-170L3.8_ENST00000575471.1_RNA NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405.3 Q14586 ZN267_HUMAN zinc finger protein 267 479 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 TCTTCAAATCTTATTATGCATCA 0.360 62 54 --- --- --- --- SLC6A10P 386757 broad.mit.edu 37 16 32890716 32890716 + RNA DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:32890716delC ENST00000330048.5 - 0 3129 NR_003083.2 ccccgccccgccccccccacc 0.612 2 4 --- --- --- --- CDH8 1006 broad.mit.edu 37 16 61935344 61935344 + Frame_Shift_Del DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:61935344delT ENST00000577390.1 - 3 1240 c.286delA c.(286-288)tcfs p.I96fs CDH8_ENST00000299345.6_Frame_Shift_Del_p.I96fs|CDH8_ENST00000584337.1_Frame_Shift_Del_p.I96fs|CDH8_ENST00000577730.1_Frame_Shift_Del_p.I96fs NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 96 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATATACTTGATTTTTTTGCTC 0.373 7 185 --- --- --- --- AC012322.1 0 broad.mit.edu 37 16 64294940 64294940 + RNA DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr16:64294940delT ENST00000561657.1 - 0 584 ATTTTCTTTCTTTTTTTTTAA 0.398 11 45 --- --- --- --- ATP1B2 482 broad.mit.edu 37 17 7556715 7556716 + Frame_Shift_Ins INS - - T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:7556715_7556716insT ENST00000250111.4 + 2 543_544 c.136_137insT c.(136-138)tttfs p.F46fs NM_001678.3 NP_001669.3 P14415 AT1B2_HUMAN ATPase, Na+/K+ transporting, beta 2 polypeptide 46 ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1) 10 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) CTTCTACCTCGTTTTTTATGGG 0.559 17 150 --- --- --- --- ZNF18 7566 broad.mit.edu 37 17 11881757 11881759 + In_Frame_Del DEL CTC CTC - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:11881757_11881759delCTC ENST00000322748.3 - 9 1769_1771 c.1165_1167delGAG c.(1165-1167)del p.E389del ZNF18_ENST00000454073.3_In_Frame_Del_p.E388del|ZNF18_ENST00000580306.1_In_Frame_Del_p.E389del|ZNF18_ENST00000580613.1_Intron NM_144680.2 NP_653281.2 P17022 ZNF18_HUMAN zinc finger protein 18 389 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) TCTCTCTCTTCTCCTCAAGCCAC 0.522 62 99 --- --- --- --- MPRIP 23164 broad.mit.edu 37 17 17046886 17046886 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:17046886delC ENST00000395811.5 + 9 1141 c.1052delC c.(1051-1053)gcfs p.A351fs MPRIP_ENST00000395804.3_Frame_Shift_Del_p.A351fs|MPRIP_ENST00000341712.4_Frame_Shift_Del_p.A351fs|MPRIP_ENST00000444976.1_Intron NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 351 Interaction with F-actin (By similarity). cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 ACCAATGAAGCCCCCCCAGCT 0.652 15 19 --- --- --- --- C17orf102 400591 broad.mit.edu 37 17 32906089 32906090 + Frame_Shift_Ins INS - - C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:32906089_32906090insC ENST00000357754.1 - 1 298_299 c.210_211insG c.(208-213)ggacccfs p.P71fs NM_207454.2 NP_997337.2 A2RUQ5 CQ102_HUMAN chromosome 17 open reading frame 102 71 central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1) 9 GGGGTAGGGTGCCCCCTACCCG 0.683 66 123 --- --- --- --- DUSP14 11072 broad.mit.edu 37 17 35872691 35872691 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:35872691delC ENST00000487847.1 + 2 1295 c.317delC c.(316-318)gcfs p.A106fs DUSP14_ENST00000394386.1_Frame_Shift_Del_p.A106fs|DUSP14_ENST00000394389.4_Frame_Shift_Del_p.A106fs O95147 DUS14_HUMAN dual specificity phosphatase 14 106 Tyrosine-protein phosphatase. MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1) 9 Breast(25;0.00637)|Ovarian(249;0.15) AAGCACGGGGCCACCTTGGTG 0.572 37 51 --- --- --- --- RP11-259G18.1 0 broad.mit.edu 37 17 44344810 44344812 + RNA DEL TCT TCT - rs2732649 by1000genomes TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:44344810_44344812delTCT ENST00000570002.2 + 0 408_410 ACCCCCGACGTCTTCTTCTTCCG 0.567 10 71 --- --- --- --- SGCA 6442 broad.mit.edu 37 17 48245065 48245066 + Frame_Shift_Ins INS - - C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:48245065_48245066insC ENST00000262018.3 + 3 316_317 c.280_281insC c.(280-282)cccfs p.P94fs SGCA_ENST00000513942.1_Intron|SGCA_ENST00000543315.1_Frame_Shift_Ins_p.P94fs|SGCA_ENST00000451235.2_Intron|SGCA_ENST00000344627.6_Frame_Shift_Ins_p.P94fs NM_000023.2 NP_000014.1 Q16586 SGCA_HUMAN sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 94 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1) 14 CGGCTCTGCCACCCCAGAAGAT 0.653 13 21 --- --- --- --- RPS6KB1 6198 broad.mit.edu 37 17 57970583 57970583 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:57970583delC ENST00000225577.4 + 1 59 c.38delC c.(37-39)gcfs p.A13fs RPS6KB1_ENST00000443572.2_Frame_Shift_Del_p.A13fs|RPS6KB1_ENST00000406116.3_Frame_Shift_Del_p.A13fs NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2 NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 1 13 apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) TTTTACCCAGCCCCGGACTTC 0.657 9 17 --- --- --- --- BCAS3 54828 broad.mit.edu 37 17 59465981 59465981 + Frame_Shift_Del DEL A A - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:59465981delA ENST00000589222.1 + 25 2730 c.2662delA c.(2662-2664)aafs p.K890fs RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000585744.1_Intron Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 0 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TTCAAAAGGGAAAAAAAAAGG 0.443 5 3 --- --- --- --- LOC146880 146880 broad.mit.edu 37 17 62750914 62750914 + RNA DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:62750914delT ENST00000400873.3 - 0 1841 NR_026899.1 CTGATTATGCttttttttttg 0.433 4 7 --- --- --- --- UNC13D 201294 broad.mit.edu 37 17 73830723 73830725 + In_Frame_Del DEL CTT CTT - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:73830723_73830725delCTT ENST00000207549.4 - 22 2444_2446 c.2065_2067delAAG c.(2065-2067)del p.K689del UNC13D_ENST00000412096.2_In_Frame_Del_p.K689del NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 689 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCCTTGGTCCTTCTGGCCTGAA 0.631 Familial Hemophagocytic Lymphohistiocytosis 11 57 --- --- --- --- UNC13D 201294 broad.mit.edu 37 17 73836377 73836377 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:73836377delG ENST00000207549.4 - 10 1166 c.787delC c.(787-789)tgfs p.L263fs UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Frame_Shift_Del_p.L263fs NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 263 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) CGGGGTTCCAGGGGGTACCAC 0.652 Familial Hemophagocytic Lymphohistiocytosis 8 52 --- --- --- --- DUS1L 64118 broad.mit.edu 37 17 80019231 80019232 + Splice_Site DEL TG TG - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr17:80019231_80019232delTG ENST00000354321.7 - 7 1183 c.e7-2 DUS1L_ENST00000306796.5_Splice_Site Q6P1R4 DUS1L_HUMAN dihydrouridine synthase 1-like (S. cerevisiae) tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GGTTGCCCTCTGTGGGAGGAGG 0.663 22 33 --- --- --- --- SLC39A6 25800 broad.mit.edu 37 18 33706880 33706880 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr18:33706880delG ENST00000269187.5 - 2 304 c.91delC c.(91-93)agfs p.Q31fs SLC39A6_ENST00000590986.1_Frame_Shift_Del_p.Q31fs|SLC39A6_ENST00000440549.2_Intron NM_012319.3 NP_036451.3 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), member 6 31 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 TCAGTGGTCTGGGGGAAAGCA 0.453 27 95 --- --- --- --- ZBTB7C 201501 broad.mit.edu 37 18 45566519 45566519 + Frame_Shift_Del DEL C C - rs113275715 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr18:45566519delC ENST00000588982.1 - 3 1461 c.960delG c.(958-960)ggfs p.G320fs ZBTB7C_ENST00000590800.1_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Del_p.G320fs A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 320 Pro-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GTCCCAGAGGCCCCCCCGGCA 0.627 47 51 --- --- --- --- CTIF 9811 broad.mit.edu 37 18 46284307 46284308 + Frame_Shift_Ins INS - - G rs111264927 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr18:46284307_46284308insG ENST00000256413.3 + 8 897_898 c.602_603insG c.(601-603)cggfs p.R201fs CTIF_ENST00000382998.4_Frame_Shift_Ins_p.R201fs NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 201 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding p.P153L(1)|p.P201L(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 CAGAGACCTCCGGGGGGCAACA 0.629 7 187 --- --- --- --- RTTN 25914 broad.mit.edu 37 18 67869207 67869207 + Frame_Shift_Del DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr18:67869207delT ENST00000255674.6 - 4 696 c.410delA c.(409-411)acfs p.N137fs RTTN_ENST00000454359.1_Frame_Shift_Del_p.N137fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.N137fs NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 137 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GATTTCAGGGTTTTTTGACAA 0.358 10 44 --- --- --- --- ZNF516 9658 broad.mit.edu 37 18 74091541 74091541 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr18:74091541delC ENST00000443185.2 - 4 2846 c.2529delG c.(2527-2529)ggfs p.G843fs ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 843 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) ACCCCGGCATCCCCCCTGGCA 0.637 37 83 --- --- --- --- NMRK2 27231 broad.mit.edu 37 19 3942174 3942174 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:3942174delC ENST00000168977.2 + 8 886 c.596delC c.(595-597)gcfs p.A199fs NMRK2_ENST00000599576.1_3'UTR|NMRK2_ENST00000593949.1_Frame_Shift_Del_p.A204fs NM_170678.2 NP_733778.1 nicotinamide riboside kinase 2 CAGGAATCAGCCCCCTCCCCG 0.637 37 42 --- --- --- --- KHSRP 8570 broad.mit.edu 37 19 6415897 6415898 + Frame_Shift_Ins INS - - C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:6415897_6415898insC ENST00000398148.3 - 16 1700_1701 c.1608_1609insG c.(1606-1611)ggccccfs p.GP536fs NM_003685.2 NP_003676.2 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 536 Ala/Gly/Pro-rich. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 TGAGGAGGGGGCCCCCCGGCAC 0.663 5 11 --- --- --- --- ECSIT 51295 broad.mit.edu 37 19 11618561 11618562 + Frame_Shift_Del DEL AC AC - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:11618561_11618562delAC ENST00000270517.7 - 6 1035_1036 c.900_901delGT c.(898-903)gtatfs p.VY300fs ECSIT_ENST00000252440.7_Intron|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Intron|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.VY86fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.C231fs NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 300 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 ATGTGGTAATACACACACTTGT 0.619 19 70 --- --- --- --- AKAP8 10270 broad.mit.edu 37 19 15483732 15483733 + Frame_Shift_Ins INS - - C TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:15483732_15483733insC ENST00000269701.2 - 5 850_851 c.790_791insG c.(790-792)gggfs p.G264fs NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 264 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 ATAGCCGCCCGCCCCCTGCATG 0.708 7 16 --- --- --- --- ZNF492 57615 broad.mit.edu 37 19 22846645 22846646 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:22846645_22846646insA ENST00000456783.2 + 4 418_419 c.174_175insA c.(172-177)ggaaaafs p.GK58fs NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 58 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) CAAAGCAGGGCAAAAAAAATTA 0.302 18 14 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38886608 38886608 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:38886608delC ENST00000587013.1 + 5 1266 c.1188delC c.(1186-1188)gafs p.D396fs SPRED3_ENST00000338502.4_Frame_Shift_Del_p.D352fs|SPRED3_ENST00000586301.1_Frame_Shift_Del_p.D352fs Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 352 SPR. multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) ACTTCTCGGACCCGTGCGCCT 0.761 2 4 --- --- --- --- HNRNPL 3191 broad.mit.edu 37 19 39330917 39330917 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:39330917delC ENST00000221419.5 - 8 1418 c.1052delG c.(1051-1053)gtfs p.G351fs HNRNPL_ENST00000600873.1_Frame_Shift_Del_p.G218fs NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 351 Pro-rich. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CCGACGGTGACCCCCCACTGG 0.692 4 6 --- --- --- --- ZNF223 7766 broad.mit.edu 37 19 44571320 44571321 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:44571320_44571321insA ENST00000591793.1 + 7 1752_1753 c.1669_1670insA c.(1669-1671)aaafs p.K557fs ZNF223_ENST00000434772.3_Frame_Shift_Ins_p.K447fs Q9UK11 ZN223_HUMAN zinc finger protein 223 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) TAAAGACCAACAAAAAAACCAC 0.356 44 134 --- --- --- --- FBXO46 23403 broad.mit.edu 37 19 46215882 46215882 + Frame_Shift_Del DEL G G - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:46215882delG ENST00000317683.3 - 2 1005 c.872delC c.(871-873)ctfs p.P291fs NM_001080469.1 NP_001073938.1 Q6PJ61 FBX46_HUMAN F-box protein 46 291 protein binding breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1) 15 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201) TGGGCTGCCAGGGTAGGCACA 0.682 29 33 --- --- --- --- ZNF432 9668 broad.mit.edu 37 19 52538321 52538321 + Frame_Shift_Del DEL T T - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr19:52538321delT ENST00000594154.1 - 5 823 c.611delA c.(610-612)acfs p.N204fs ZNF432_ENST00000221315.5_Frame_Shift_Del_p.N204fs O94892 ZN432_HUMAN zinc finger protein 432 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) GCATACGTGGTTTTTTTCTAT 0.383 79 136 --- --- --- --- FASTKD5 60493 broad.mit.edu 37 20 3128920 3128921 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:3128920_3128921insA ENST00000380266.3 - 2 1117_1118 c.796_797insT c.(796-798)tagfs p.*266fs UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 266 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 AAGATAACTAGAAAAAATGTTT 0.401 8 148 --- --- --- --- RPRD1B 58490 broad.mit.edu 37 20 36676874 36676874 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:36676874delC ENST00000373433.4 + 3 808 c.406delC c.(406-408)ccfs p.P137fs NM_021215.3 NP_067038.1 Q9NQG5 RPR1B_HUMAN regulation of nuclear pre-mRNA domain containing 1B 137 endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1) 12 CAAGAGCCCTCCCCCCAAAGG 0.473 17 122 --- --- --- --- TNFRSF6B 8771 broad.mit.edu 37 20 62328715 62328715 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr20:62328715delC ENST00000369996.1 + 2 559 c.459delC c.(457-459)tgfs p.C153fs RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR NM_003823.3 NP_003814.1 O95407 TNF6B_HUMAN tumor necrosis factor receptor superfamily, member 6b, decoy 153 anti-apoptosis|apoptosis extracellular region|soluble fraction protein binding|receptor activity central_nervous_system(1)|lung(2)|skin(1) 4 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) GCCAGCCGTGCCCCCCAGGCA 0.667 13 25 --- --- --- --- KLHDC7B 113730 broad.mit.edu 37 22 50988067 50988068 + Frame_Shift_Ins INS - - G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr22:50988067_50988068insG ENST00000395676.2 + 1 1606_1607 c.1472_1473insG c.(1471-1473)cggfs p.R491fs NM_138433.3 NP_612442.2 Q96G42 KLD7B_HUMAN kelch domain containing 7B 491 central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ATCGTGGCACTGGGGGGCTTCC 0.668 23 92 --- --- --- --- SHANK3 85358 broad.mit.edu 37 22 51159932 51159933 + Frame_Shift_Ins INS - - G TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chr22:51159932_51159933insG ENST00000414786.2 + 21 3856_3857 c.3629_3630insG c.(3628-3630)cggfs p.R1210fs SHANK3_ENST00000445220.2_Frame_Shift_Ins_p.R1226fs|SHANK3_ENST00000262795.3_Frame_Shift_Ins_p.R1240fs F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1240 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CCCAGCAGGCTGGGGGGGGCCG 0.718 5 5 --- --- --- --- UBQLN2 29978 broad.mit.edu 37 X 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chrX:56591874delC ENST00000338222.5 + 1 1849 c.1568delC c.(1567-1569)gcfs p.A523fs NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 523 12 X 3 AA tandem repeats of P-X-X. cytoplasm|nucleus|plasma membrane binding p.P525fs*71(1) breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 GGCCCTGCAGCCCCCCCTGGC 0.642 8 10 --- --- --- --- FAM133A 286499 broad.mit.edu 37 X 92964568 92964569 + Frame_Shift_Ins INS - - A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chrX:92964568_92964569insA ENST00000538690.1 + 5 711_712 c.150_151insA c.(148-153)aaaaaafs p.KK50fs FAM133A_ENST00000355813.5_Frame_Shift_Ins_p.KK50fs|FAM133A_ENST00000332647.4_Frame_Shift_Ins_p.KK50fs|FAM133A_ENST00000322139.4_Frame_Shift_Ins_p.KK50fs NM_001171110.1 NP_001164581.1 Q8N9E0 F133A_HUMAN family with sequence similarity 133, member A 50 Lys-rich. breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1) 20 AATTAGAAAATAAAAAAACAGG 0.351 15 17 --- --- --- --- BCORL1 63035 broad.mit.edu 37 X 129190011 129190011 + Frame_Shift_Del DEL C C - rs137862942 TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d3e8e37-d49f-4dce-8b48-859889667bb8 098daccc-81da-4cb8-a095-4d192a4729f7 g.chrX:129190011delC ENST00000540052.1 + 12 5080 c.5036delC c.(5035-5037)tcfs p.S1679fs BCORL1_ENST00000303743.5_Frame_Shift_Del_p.S1753fs|BCORL1_ENST00000218147.7_Frame_Shift_Del_p.S1679fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.S1549fs NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1679 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GACGACAGATCCCCCCCAGGC 0.602 48 11 --- --- --- ---