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 CHD4 1108 broad.mit.edu 37 12 6705294 6705294 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:6705294C>G ENST00000309577.6 - 13 2065 c.1902G>C c.(1900-1902)aaG>aaC p.K634N CHD4_ENST00000357008.2_Missense_Mutation_p.K634N|CHD4_ENST00000544040.1_Missense_Mutation_p.K627N|CHD4_ENST00000544484.1_Missense_Mutation_p.K631N Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 634 Chromo 2. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CGTGGCCCTTCTTGTCCACAC 0.507000 27 65 0 0 0.717897 0 0 FAM208B 54906 broad.mit.edu 37 10 5798670 5798670 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr10:5798670G>A ENST00000328090.5 + 16 7326 c.6701G>A c.(6700-6702)aGa>aAa p.R2234K NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 2234 ATCATCATCAGAAATGAAGAT 0.393000 25 46 0 0 0.693898 0 0 OR5W2 390148 broad.mit.edu 37 11 55681259 55681259 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:55681259G>A ENST00000344514.1 - 1 799 c.800C>T c.(799-801)tCt>tTt p.S267F NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTGATCTAGAGAATAGGAAGA 0.438000 6 36 0 0 0.217242 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62893332 62893332 + Missense_Mutation SNP G G C rs4080904 TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:62893332G>C ENST00000584306.1 - 3 574 c.44C>G c.(43-45)cCg>cGg p.P15R RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.P15R NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 15 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GAAACGCAGCGGGGACATGAC 0.602000 4 223 0 0 0.278610 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74649182 74649182 + Missense_Mutation SNP T T C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:74649182T>C ENST00000354431.4 - 2 378 c.187A>G c.(187-189)Aca>Gca p.T63A LRRIQ3_ENST00000395089.1_Missense_Mutation_p.T63A|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.T63A|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.T63A NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 63 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TGAATATCTGTAATAAaattg 0.308000 16 18 0 0 0.557998 0 0 HSD17B1 3292 broad.mit.edu 37 17 40705230 40705230 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:40705230G>A ENST00000585807.1 + 2 3906 c.186G>A c.(184-186)acG>acA p.T62T RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Silent_p.T62T NM_000413.2 NP_000404.2 P14061 DHB1_HUMAN hydroxysteroid (17-beta) dehydrogenase 1 62 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity NS(1)|endometrium(1)|kidney(1)|lung(2) 5 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) NADH(DB00157) CCCTGGAGACGTTGCAGCTGG 0.647000 37 77 0 0 0.870114 0 0 KRT80 144501 broad.mit.edu 37 12 52574698 52574698 + Nonsense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:52574698G>A ENST00000313234.5 - 3 656 c.559C>T c.(559-561)Cag>Tag p.Q187* KRT80_ENST00000394815.2_Nonsense_Mutation_p.Q187* NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 187 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) TTCTTCAGCTGAACAAAGGTG 0.582000 24 40 0 0 0.717897 0 0 KMT2C 58508 broad.mit.edu 37 7 151945127 151945127 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:151945127G>C ENST00000355193.2 - 14 2610 c.2392C>G c.(2392-2394)Cat>Gat p.H798D KMT2C_ENST00000262189.6_Missense_Mutation_p.H798D lysine (K)-specific methyltransferase 2C GGGTAATTATGCAGCATGTCA 0.443000 25 552 0 0 0.796494 0 0 RELN 5649 broad.mit.edu 37 7 103202301 103202301 + Nonsense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:103202301C>T ENST00000424685.2 - 35 5469 c.5310G>A c.(5308-5310)tgG>tgA p.W1770* RELN_ENST00000343529.5_Nonsense_Mutation_p.W1770*|RELN_ENST00000428762.1_Nonsense_Mutation_p.W1770* P78509 RELN_HUMAN reelin 1770 EGF-like 4. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGAGCACATCCAAGGGCACC 0.473000 30 48 0 0 0.834066 0 0 ZNF257 113835 broad.mit.edu 37 19 22271465 22271465 + Nonsense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:22271465C>T ENST00000594947.1 + 4 1057 c.913C>T c.(913-915)Caa>Taa p.Q305* NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) TACCCTTACTCAACATAAGAG 0.393000 9 29 0 0 0.335167 0 0 OCLN 100506658 broad.mit.edu 37 5 68805036 68805036 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:68805036C>G ENST00000355237.2 + 3 555 c.119C>G c.(118-120)tCt>tGt p.S40C OCLN_ENST00000380766.2_Missense_Mutation_p.S40C|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.S40C NM_002538.3 NP_002529.1 Q16625 OCLN_HUMAN occludin 40 cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CCAATGCTCTCTCAGCCAGCC 0.403000 36 81 0 0 0.804634 0 0 PIM3 415116 broad.mit.edu 37 22 50356727 50356727 + Silent SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr22:50356727C>G ENST00000360612.4 + 6 1368 c.933C>G c.(931-933)ctC>ctG p.L311L NM_001001852.3 NP_001001852.2 Q86V86 PIM3_HUMAN pim-3 oncogene 311 cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle ATP binding|protein binding|protein serine/threonine kinase activity all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) TGTGCACCCTCGACCCTGATG 0.677000 7 22 0 0 0.278610 0 0 DEPDC1 55635 broad.mit.edu 37 1 68949729 68949729 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:68949729C>G ENST00000456315.2 - 7 928 c.814G>C c.(814-816)Gaa>Caa p.E272Q DEPDC1_ENST00000370966.5_Missense_Mutation_p.E272Q NM_001114120.1 NP_001107592.1 Q5TB30 DEP1A_HUMAN DEP domain containing 1 272 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) ACATCTCGTTCAAATCCAACA 0.299000 9 29 0 0 0.435327 0 0 FRAS1 80144 broad.mit.edu 37 4 79462137 79462137 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:79462137G>A ENST00000264895.6 + 74 12338 c.11898G>A c.(11896-11898)gtG>gtA p.V3966V NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3961 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 AGAAGAACGTGAATAGACACT 0.498000 6 98 0 0 0.278610 0 0 IGSF10 285313 broad.mit.edu 37 3 151161338 151161338 + Silent SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:151161338C>G ENST00000282466.3 - 5 5396 c.5397G>C c.(5395-5397)gtG>gtC p.V1799V NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1799 Ig-like C2-type 4. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CGTCAACCGTCACCACAGCCT 0.512000 22 45 0 0 0.667858 0 0 ZNF646 9726 broad.mit.edu 37 16 31090309 31090309 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:31090309G>C ENST00000394979.2 + 1 3087 c.2664G>C c.(2662-2664)atG>atC p.M888I ZNF646_ENST00000300850.5_Missense_Mutation_p.M888I O15015 ZN646_HUMAN zinc finger protein 646 888 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 TCTGTGGCATGATCTTCCCTG 0.637000 16 59 0 0 0.520397 0 0 TRPV2 51393 broad.mit.edu 37 17 16326850 16326850 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:16326850C>A ENST00000338560.7 + 5 1092 c.693C>A c.(691-693)aaC>aaA p.N231K TRPV2_ENST00000577397.1_Intron NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 231 Required for interaction with SLC50A1 (By similarity). sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TCCTGGAGAACCCACACCAGC 0.607000 37 56 7.53189e-24 8.26186e-24 0.834066 1 0 ZNF425 155054 broad.mit.edu 37 7 148801424 148801424 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:148801424G>A ENST00000378061.2 - 4 1671 c.1539C>T c.(1537-1539)ctC>ctT p.L513L NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 513 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGTGCTGCGTGAGCCGCGACT 0.637000 9 33 0 0 0.435327 0 0 PGM2L1 283209 broad.mit.edu 37 11 74053678 74053678 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:74053678G>A ENST00000298198.4 - 12 1771 c.1460C>T c.(1459-1461)tCa>tTa p.S487L NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 487 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) GGAAGTTTTTGAAATATGATA 0.289000 9 37 0 0 0.435327 0 0 PIK3CA 5290 broad.mit.edu 37 3 178928225 178928225 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:178928225C>G ENST00000263967.3 + 9 1568 c.1411C>G c.(1411-1413)Cca>Gca p.P471A NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 471 C2 PI3K-type. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.P471A(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTAGGAAACTCCATGCTTAGA 0.368000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 26 21 0 0 0.681144 0 0 AKAP1 8165 broad.mit.edu 37 17 55183156 55183156 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:55183156C>T ENST00000337714.3 + 2 564 c.331C>T c.(331-333)Ctt>Ttt p.L111F AKAP1_ENST00000572557.1_Missense_Mutation_p.L111F|AKAP1_ENST00000314126.3_Missense_Mutation_p.L111F|AKAP1_ENST00000539273.1_Missense_Mutation_p.L111F|AKAP1_ENST00000571629.1_Missense_Mutation_p.L111F NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 111 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) CTCGGGCATTCTTCCTAACAC 0.547000 34 55 0 0 0.779181 0 0 NCAN 1463 broad.mit.edu 37 19 19339025 19339025 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:19339025G>A ENST00000252575.6 + 8 2695 c.2596G>A c.(2596-2598)Gat>Aat p.D866N NCAN_ENST00000538881.1_Missense_Mutation_p.D317N NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GGTGGCCCTGGATACAAGCAT 0.597000 22 96 0 0 0.717897 0 0 UBBP4 23666 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 3 62 0 0 0.115264 0 0 FAT4 79633 broad.mit.edu 37 4 126241103 126241103 + Silent SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126241103C>G ENST00000394329.3 + 1 3550 c.3537C>G c.(3535-3537)gtC>gtG p.V1179V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1179 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GCTTTACAGTCATAGCAACAG 0.428000 36 69 0 0 0.853193 0 0 FAT4 79633 broad.mit.edu 37 4 126239578 126239578 + Nonsense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239578C>G ENST00000394329.3 + 1 2025 c.2012C>G c.(2011-2013)tCa>tGa p.S671* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 671 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCCCAGTCATCAATGGCTCGC 0.488000 24 51 0 0 0.706142 0 0 CASP4 837 broad.mit.edu 37 11 104815563 104815563 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:104815563C>G ENST00000444739.2 - 8 1961 c.1051G>C c.(1051-1053)Gaa>Caa p.E351Q CASP4_ENST00000393150.3_Missense_Mutation_p.E295Q NM_001225.3 NP_001216.1 P49662 CASP4_HUMAN caspase 4, apoptosis-related cysteine peptidase 351 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2) 23 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) CTTGGAGTTTCAAATGATTGC 0.403000 5 27 0 0 0.248553 0 0 COL10A1 1300 broad.mit.edu 37 6 116442382 116442382 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:116442382C>T ENST00000327673.4 - 2 1304 c.897G>A c.(895-897)ggG>ggA p.G299G AL121963.1_ENST00000430695.1_Silent_p.F12F|COL10A1_ENST00000243222.4_Silent_p.G299G|NT5DC1_ENST00000319550.4_Intron Q03692 COAA1_HUMAN collagen, type X, alpha 1 299 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) AGCCTGGTTTCCCAAAGCCAG 0.642000 8 27 0 0 0.307466 0 0 CPA3 1359 broad.mit.edu 37 3 148596524 148596524 + Missense_Mutation SNP T T C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:148596524T>C ENST00000296046.3 + 5 515 c.463T>C c.(463-465)Tat>Cat p.Y155H RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 155 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TAATCCACTATATGTTCTGAA 0.313000 16 17 0 0 0.557998 0 0 WDR75 84128 broad.mit.edu 37 2 190334854 190334854 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:190334854C>G ENST00000314761.4 + 17 1932 c.1872C>G c.(1870-1872)atC>atG p.I624M NM_032168.1 NP_115544.1 Q8IWA0 WDR75_HUMAN WD repeat domain 75 624 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) AAAAGGGTATCTCCAGAGAGA 0.403000 47 87 0 0 0.870114 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 3 34 0 0 0.184627 0 0 HEXIM1 10614 broad.mit.edu 37 17 43227260 43227260 + Missense_Mutation SNP G G T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:43227260G>T ENST00000332499.2 + 1 2577 c.703G>T c.(703-705)Gac>Tac p.D235Y NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 235 Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CAAATCCGACGACACCAGCGA 0.612000 14 73 1.37522e-17 1.48238e-17 0.557998 1 0 SLC32A1 140679 broad.mit.edu 37 20 37357147 37357147 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr20:37357147C>T ENST00000217420.1 + 2 1706 c.1443C>T c.(1441-1443)ctC>ctT p.L481L NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 481 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TGCGCCTGCTCTGGCGCAAGC 0.647000 5 70 0 0 0.217242 0 0 IGSF10 285313 broad.mit.edu 37 3 151166475 151166475 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:151166475C>G ENST00000282466.3 - 4 1293 c.1294G>C c.(1294-1296)Gac>Cac p.D432H NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 432 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GAAATTTGGTCTTGCATTAAC 0.428000 13 22 0 0 0.479597 0 0 FGA 2243 broad.mit.edu 37 4 155506692 155506692 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:155506692C>T ENST00000302053.3 - 5 1967 c.1889G>A c.(1888-1890)aGa>aAa p.R630K FGA_ENST00000403106.3_Missense_Mutation_p.R630K NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 630 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) gtggatacctctgaCAGGGCG 0.488000 19 51 0 0 0.575678 0 0 GBA 2629 broad.mit.edu 37 1 155207361 155207361 + Missense_Mutation SNP T T A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:155207361T>A ENST00000327247.5 - 8 1002 c.770A>T c.(769-771)gAt>gTt p.D257V GBA_ENST00000427500.3_Missense_Mutation_p.D208V|GBA_ENST00000428024.3_Missense_Mutation_p.D170V|GBA_ENST00000536770.1_Missense_Mutation_p.D144V|GBA_ENST00000368373.3_Missense_Mutation_p.D257V NM_001005741.2|NM_001005742.2 NP_001005741.1|NP_001005742.1 P04062 GLCM_HUMAN glucosidase, beta, acid 257 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) AGCATAGGCATCCAGGAACCT 0.542000 Gaucher disease type I 9 13 0 0 0.575678 0 0 TAF1D 79101 broad.mit.edu 37 11 93471531 93471531 + Nonsense_Mutation SNP G G T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:93471531G>T ENST00000448108.2 - 3 853 c.203C>A c.(202-204)tCa>tAa p.S68* NM_024116.3 NP_077021.1 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.S68L(1) large_intestine(1)|lung(3)|prostate(1)|skin(2) 7 TTCAAAAGATGAGTCACTTGA 0.363000 4 23 0.150653 0.152491 0.150653 1 0 VEZF1 7716 broad.mit.edu 37 17 56056663 56056663 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:56056663C>T ENST00000584396.1 - 5 1049 c.961G>A c.(961-963)Gaa>Aaa p.E321K VEZF1_ENST00000581208.1_Missense_Mutation_p.E330K Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 330 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 CTGGTCTCTTCACTCATGCAT 0.443000 25 49 0 0 0.693898 0 0 FAT4 79633 broad.mit.edu 37 4 126240606 126240606 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240606C>G ENST00000394329.3 + 1 3053 c.3040C>G c.(3040-3042)Cga>Gga p.R1014G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1014 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGTGAATTCTCGATTCTTTAA 0.383000 27 61 0 0 0.706142 0 0 SPEG 10290 broad.mit.edu 37 2 220309874 220309874 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:220309874C>G ENST00000312358.7 + 3 938 c.806C>G c.(805-807)tCt>tGt p.S269C SPEG_ENST00000396698.1_Missense_Mutation_p.S165C|SPEG_ENST00000396695.2_Intron NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 269 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) CGGGCGCTCTCTATCCACGTG 0.612000 3 8 0 0 0.115264 0 0 ENPP2 5168 broad.mit.edu 37 8 120620215 120620215 + Silent SNP T T C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:120620215T>C ENST00000427067.2 - 9 948 c.768A>G c.(766-768)ctA>ctG p.L256L ENPP2_ENST00000075322.6_Silent_p.L260L|ENPP2_ENST00000259486.6_Silent_p.L260L|ENPP2_ENST00000522826.1_Silent_p.L260L Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 260 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CTGTAATCCATAGCTAATGAG 0.318000 15 12 0 0 0.539581 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641807 106641807 + RNA SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr14:106641807G>A ENST00000390605.2 - 0 165 GACCTTCACTGAGGCCCCAGG 0.582000 56 49 0 0 0.870114 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64536627 64536627 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:64536627G>A ENST00000498707.1 - 31 5152 c.4810C>T c.(4810-4812)Cgt>Tgt p.R1604C ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1576C NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1604 TSP type-1 13. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R1604C(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CAGCTTTCACGGTCCACCGGC 0.572000 111 113 0 0 0.870114 0 0 SEMA3F 6405 broad.mit.edu 37 3 50220147 50220147 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:50220147C>T ENST00000002829.3 + 9 1318 c.834C>T c.(832-834)ttC>ttT p.F278F SEMA3F_ENST00000413852.1_Silent_p.F179F|SEMA3F_ENST00000434342.1_Silent_p.F247F NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 278 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) TTTACTTCTTCTTCCGTGAGC 0.627000 47 75 0 0 0.870114 0 0 HECTD2 143279 broad.mit.edu 37 10 93252132 93252132 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr10:93252132G>C ENST00000446394.1 + 14 1435 c.1335G>C c.(1333-1335)ttG>ttC p.L445F HECTD2_ENST00000298068.5_Missense_Mutation_p.L441F|HECTD2_ENST00000371667.1_Missense_Mutation_p.L91F|HECTD2_ENST00000536715.1_Missense_Mutation_p.L30F NM_001284274.1 NP_001271203.1 Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 441 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 GAGCCGATTTGAAAAAGAAGT 0.348000 12 14 0 0 0.411799 0 0 NAALAD2 10003 broad.mit.edu 37 11 89885588 89885588 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:89885588G>A ENST00000534061.1 + 6 962 c.732G>A c.(730-732)caG>caA p.Q244Q NAALAD2_ENST00000321955.4_Silent_p.Q244Q|NAALAD2_ENST00000525171.1_Silent_p.Q244Q|NAALAD2_ENST00000375944.3_Silent_p.Q244Q NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 244 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CTGCAGCCCAGAGAGGAAATG 0.473000 14 72 0 0 0.539581 0 0 WDR27 253769 broad.mit.edu 37 6 170013745 170013745 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:170013745G>A ENST00000333572.6 - 22 2750 c.2231C>T c.(2230-2232)tCa>tTa p.S744L WDR27_ENST00000448612.1_Missense_Mutation_p.S744L|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.S617L A2RRH5 WDR27_HUMAN WD repeat domain 27 714 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GGTTGTAAATGATGAACCCTA 0.423000 4 24 0 0 0.184627 0 0 FBXO38 81545 broad.mit.edu 37 5 147821699 147821699 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:147821699G>A ENST00000340253.5 + 22 3724 c.3556G>A c.(3556-3558)Gac>Aac p.D1186N FBXO38_ENST00000296701.6_Missense_Mutation_p.D941N|FBXO38_ENST00000513826.1_Missense_Mutation_p.D941N|FBXO38_ENST00000394370.3_Missense_Mutation_p.D1111N Q6PIJ6 FBX38_HUMAN F-box protein 38 1186 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTTGAAGATGACTACATTTA 0.458000 12 80 0 0 0.435327 0 0 MARCH6 10299 broad.mit.edu 37 5 10390534 10390534 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:10390534G>C ENST00000274140.5 + 6 630 c.498G>C c.(496-498)caG>caC p.Q166H MARCH6_ENST00000449913.2_Missense_Mutation_p.Q118H|MARCH6_ENST00000503788.1_Missense_Mutation_p.Q61H NM_005885.3 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 166 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 TGAGAGAGCAGATAGTCCATG 0.488000 42 143 0 0 0.870114 0 0 ULK4 54986 broad.mit.edu 37 3 41961238 41961238 + Missense_Mutation SNP A A G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:41961238A>G ENST00000301831.4 - 6 1076 c.614T>C c.(613-615)tTg>tCg p.L205S ULK4_ENST00000420927.1_Missense_Mutation_p.L205S NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 205 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) CAGACAGCCCAAAGACCAGAG 0.413000 26 83 0 0 0.796494 0 0 YTHDC2 64848 broad.mit.edu 37 5 112917321 112917321 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:112917321C>A ENST00000161863.4 + 25 3775 c.3562C>A c.(3562-3564)Cct>Act p.P1188T NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1188 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) AGAAGAGCTTCCTTTGGCCTC 0.403000 7 13 0.0293803 0.0301058 0.248553 1 0 MTFMT 123263 broad.mit.edu 37 15 65316099 65316099 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:65316099C>T ENST00000220058.4 - 3 466 c.453G>A c.(451-453)ccG>ccA p.P151P MTFMT_ENST00000561025.1_Intron NM_139242.3 NP_640335.2 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase 151 mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity endometrium(1)|large_intestine(3)|lung(3)|ovary(3) 10 Tetrahydrofolic acid(DB00116) CACGCCATCTCGGGAGGCAAC 0.438000 5 13 0 0 0.184627 0 0 MON2 23041 broad.mit.edu 37 12 62986494 62986494 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:62986494C>G ENST00000393630.3 + 36 5513 c.5122C>G c.(5122-5124)Cca>Gca p.P1708A MON2_ENST00000552738.1_Missense_Mutation_p.P1678A|MON2_ENST00000393632.2_Missense_Mutation_p.P1707A|MON2_ENST00000551397.1_Missense_Mutation_p.P81A|MON2_ENST00000546600.1_3'UTR|MON2_ENST00000393629.2_Missense_Mutation_p.P1701A NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 1708 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TTTCATGCAGCCACCAGCATC 0.393000 23 42 0 0 0.706142 0 0 SLC1A1 6505 broad.mit.edu 37 9 4574009 4574009 + Silent SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr9:4574009G>C ENST00000262352.3 + 8 1106 c.870G>C c.(868-870)ctG>ctC p.L290L NM_004170.5 NP_004161.4 P43005 EAA3_HUMAN solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 290 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1) 15 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) CCACAGTCCTGACTGGGTATG 0.458000 44 47 0 0 0.859065 0 0 RIMS2 9699 broad.mit.edu 37 8 104897909 104897909 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:104897909G>A ENST00000507740.1 + 2 742 c.506G>A c.(505-507)cGa>cAa p.R169Q RIMS2_ENST00000262231.10_Missense_Mutation_p.R169Q|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000436393.2_Missense_Mutation_p.R139Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R361Q NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 392 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GAAGTGTCCCGAGCACGGCAT 0.478000 HNSCC(12;0.0054) 12 21 0 0 0.479597 0 0 LRRC37A2 474170 broad.mit.edu 37 17 44626216 44626216 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:44626216C>T ENST00000576629.1 + 10 4206 c.3711C>T c.(3709-3711)ttC>ttT p.F1237F ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Silent_p.F1237F|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron A6NM11 L37A2_HUMAN leucine rich repeat containing 37, member A2 1237 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) AGCCTTCCTTCACCCAAGAGC 0.592000 15 129 0 0 0.557998 0 0 C2CD3 26005 broad.mit.edu 37 11 73814325 73814325 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:73814325C>T ENST00000334126.7 - 14 2657 c.2431G>A c.(2431-2433)Gtg>Atg p.V811M C2CD3_ENST00000313663.7_Missense_Mutation_p.V811M Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 811 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) CCATCTGGCACCATCAACAGC 0.413000 23 105 0 0 0.654019 0 0 ITGB4 3691 broad.mit.edu 37 17 73738710 73738710 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:73738710G>A ENST00000200181.3 + 25 3017 c.2830G>A c.(2830-2832)Gta>Ata p.V944I ITGB4_ENST00000450894.3_Missense_Mutation_p.V944I|ITGB4_ENST00000579662.1_Missense_Mutation_p.V944I|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.V944I|ITGB4_ENST00000449880.2_Missense_Mutation_p.V944I NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 944 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTGGTGGACGTACGGGTGCC 0.692000 4 120 0 0 0.217242 0 0 KIAA1522 57648 broad.mit.edu 37 1 33235330 33235330 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:33235330C>T ENST00000401073.2 + 5 713 c.643C>T c.(643-645)Cgg>Tgg p.R215W KIAA1522_ENST00000373480.1_Missense_Mutation_p.R156W|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R167W NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 156 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) AGGGCGGCGTCGGCGGGAGCG 0.627000 9 45 0 0 0.387290 0 0 EIF4G3 8672 broad.mit.edu 37 1 21329220 21329220 + Nonsense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:21329220G>A ENST00000602326.1 - 5 599 c.16C>T c.(16-18)Caa>Taa p.Q6* EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.Q6*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.Q6*|EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.Q6*|EIF4G3_ENST00000264211.8_Nonsense_Mutation_p.Q6*|EIF4G3_ENST00000374927.4_Nonsense_Mutation_p.Q6*|EIF4G3_ENST00000356916.3_Nonsense_Mutation_p.Q6* NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 6 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GAACGGGTTTGAGGTTGTGAA 0.443000 70 143 0 0 0.870114 0 0 CHAT 1103 broad.mit.edu 37 10 50873030 50873030 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr10:50873030G>A ENST00000395562.2 + 16 2408 c.1939G>A c.(1939-1941)Gag>Aag p.E647K CHAT_ENST00000339797.1_Missense_Mutation_p.E611K|CHAT_ENST00000351556.3_Missense_Mutation_p.E611K|CHAT_ENST00000395559.2_Missense_Mutation_p.E611K|CHAT_ENST00000337653.2_Missense_Mutation_p.E729K|CHAT_ENST00000455728.2_Intron NM_001142933.1|NM_001142934.1 NP_001136405|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 729 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GCCGCCTACTGAGAGCAAGCC 0.522000 54 60 0 0 0.870114 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 3 38 0 0 0.115264 0 0 WAC 51322 broad.mit.edu 37 10 28897274 28897274 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr10:28897274C>T ENST00000375664.4 + 8 1553 c.944C>T c.(943-945)cCa>cTa p.P315L WAC_ENST00000354911.4_Missense_Mutation_p.P360L|WAC_ENST00000375646.1_Missense_Mutation_p.P212L|WAC_ENST00000428935.1_Missense_Mutation_p.P315L|WAC_ENST00000347934.4_Missense_Mutation_p.P257L Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 CTTCAGGACCCAAATCTTCTT 0.448000 11 11 0 0 0.387290 0 0 CCDC150 284992 broad.mit.edu 37 2 197590756 197590756 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:197590756C>A ENST00000389175.4 + 22 2624 c.2489C>A c.(2488-2490)gCt>gAt p.A830D CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.A477D|CCDC150_ENST00000409270.1_Missense_Mutation_p.A317D NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 830 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CGCATAGAAGCTCTAAGAAAG 0.423000 7 16 1.06961e-07 1.11437e-07 0.278610 1 0 TENM3 55714 broad.mit.edu 37 4 183710449 183710449 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:183710449C>T ENST00000511685.1 + 25 5631 c.5508C>T c.(5506-5508)acC>acT p.T1836T TENM3_ENST00000406950.2_Silent_p.T1836T teneurin transmembrane protein 3 AGCGAGGCACCACTAGCGAGA 0.512000 7 43 0 0 0.335167 0 0 GATSL3 652968 broad.mit.edu 37 22 30682066 30682066 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr22:30682066C>T ENST00000407689.3 - 7 894 c.765G>A c.(763-765)ctG>ctA p.L255L GATSL3_ENST00000459785.1_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000404953.3_Silent_p.L217L NM_001037666.2 NP_001032755.1 GATS protein-like 3 breast(1)|endometrium(1)|lung(1) 3 AGGAGCTGGTCAGCAGGAGGT 0.672000 4 21 0 0 0.217242 0 0 PCSK9 255738 broad.mit.edu 37 1 55521852 55521852 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:55521852C>T ENST00000302118.5 + 6 1276 c.986C>T c.(985-987)tCa>tTa p.S329L PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.S129L NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 329 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 TCCCCAGCCTCAGCTCCCGAG 0.741000 8 9 0 0 0.361761 0 0 SYTL2 54843 broad.mit.edu 37 11 85445049 85445049 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:85445049G>C ENST00000316356.4 - 7 1887 c.1323C>G c.(1321-1323)atC>atG p.I441M SYTL2_ENST00000528231.1_Missense_Mutation_p.I440M|SYTL2_ENST00000389960.4_Missense_Mutation_p.I440M|SYTL2_ENST00000524452.1_Missense_Mutation_p.I440M|SYTL2_ENST00000527523.1_Missense_Mutation_p.I392M Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 440 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TGGGTTCATTGATGGTTGGTG 0.383000 39 80 0 0 0.870114 0 0 NT5E 4907 broad.mit.edu 37 6 86194979 86194979 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:86194979G>A ENST00000257770.3 + 4 827 c.778G>A c.(778-780)Gct>Act p.A260T NT5E_ENST00000369651.3_Missense_Mutation_p.A260T NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 260 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) AGAGGTGCCTGCTGGGAAGTA 0.502000 9 55 0 0 0.335167 0 0 DLX4 1748 broad.mit.edu 37 17 48047109 48047109 + Missense_Mutation SNP G G A rs145736583 TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:48047109G>A ENST00000240306.3 + 1 572 c.277G>A c.(277-279)Gag>Aag p.E93K DLX4_ENST00000505318.2_Missense_Mutation_p.E93K|DLX4_ENST00000503410.1_3'UTR NM_138281.2 NP_612138.1 Q92988 DLX4_HUMAN distal-less homeobox 4 93 MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 TCAGGAACTCGAGGCAGGTAA 0.667000 14 108 0 0 0.457914 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135720804 135720804 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:135720804C>T ENST00000264977.3 + 2 1081 c.464C>T c.(463-465)tCa>tTa p.S155L PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 155 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AATAGGAGGTCAGTTGATTTG 0.398000 6 34 0 0 0.248553 0 0 NIPSNAP1 8508 broad.mit.edu 37 22 29957498 29957498 + Silent SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr22:29957498G>C ENST00000216121.7 - 6 830 c.576C>G c.(574-576)ctC>ctG p.L192L NM_001202502.1|NM_003634.3 NP_001189431.1|NP_003625.2 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 (C. elegans) 192 p.?(1) large_intestine(2)|lung(2)|skin(1) 5 GAGGCACCTTGAGCTTGTATG 0.577000 44 83 0 0 0.870114 0 0 KRT80 144501 broad.mit.edu 37 12 52574708 52574708 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:52574708G>A ENST00000313234.5 - 3 646 c.549C>T c.(547-549)ttC>ttT p.F183F KRT80_ENST00000394815.2_Silent_p.F183F NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 183 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) GAACAAAGGTGAACTCCATGT 0.592000 24 43 0 0 0.729181 0 0 MUC16 94025 broad.mit.edu 37 19 9077046 9077046 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:9077046C>G ENST00000397910.4 - 3 10603 c.10400G>C c.(10399-10401)gGa>gCa p.G3467A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3468 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCCTTGGTCTCCAGAGGGCAG 0.507000 5 24 0 0 0.248553 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147147 26147147 + Missense_Mutation SNP A A C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:26147147A>C ENST00000331351.5 + 2 1341 c.949A>C c.(949-951)Aaa>Caa p.K317Q HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 317 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) GCTGGCCTTCAAAAACCGGAC 0.547000 72 170 0 0 0.870114 0 0 NUP85 79902 broad.mit.edu 37 17 73231253 73231253 + Nonsense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:73231253C>G ENST00000245544.4 + 18 1897 c.1826C>G c.(1825-1827)tCa>tGa p.S609* NUP85_ENST00000579324.1_Nonsense_Mutation_p.S497*|NUP85_ENST00000541827.1_Nonsense_Mutation_p.S563*|NUP85_ENST00000540768.1_Nonsense_Mutation_p.S212*|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000579298.1_Nonsense_Mutation_p.S564* NM_024844.3 NP_079120.1 Q9BW27 NUP85_HUMAN nucleoporin 85kDa 609 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) GACTTGACGTCAAGAAGACCT 0.522000 8 75 0 0 0.457914 0 0 FAT4 79633 broad.mit.edu 37 4 126238826 126238826 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126238826C>T ENST00000394329.3 + 1 1273 c.1260C>T c.(1258-1260)atC>atT p.I420I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 420 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGAGCCTAATCAAGGTGGCCA 0.607000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 29 0 0 0.457914 0 0 FNDC1 84624 broad.mit.edu 37 6 159653433 159653433 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:159653433C>G ENST00000297267.9 + 11 2089 c.1889C>G c.(1888-1890)tCt>tGt p.S630C FNDC1_ENST00000340366.6_Missense_Mutation_p.S567C NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 630 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CAGGGCACCTCTCATCGTCCT 0.667000 12 96 0 0 0.539581 0 0 PRG4 10216 broad.mit.edu 37 1 186276100 186276100 + Missense_Mutation SNP A A C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:186276100A>C ENST00000445192.2 + 7 1294 c.1249A>C c.(1249-1251)Acc>Ccc p.T417P PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367483.4_Missense_Mutation_p.T376P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 417 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 p.T417P(1) 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 ACCCACCACCACCAAGGAGCC 0.652000 5 105 0 0 0.335167 0 0 FAT4 79633 broad.mit.edu 37 4 126239094 126239094 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239094C>G ENST00000394329.3 + 1 1541 c.1528C>G c.(1528-1530)Ctg>Gtg p.L510V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 510 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAATGCTAATCTGCGTTACAG 0.557000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 53 0 0 0.639603 0 0 C2orf44 80304 broad.mit.edu 37 2 24260579 24260579 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:24260579G>C ENST00000295148.4 - 2 1843 c.1786C>G c.(1786-1788)Caa>Gaa p.Q596E C2orf44_ENST00000406895.3_Missense_Mutation_p.Q596E NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 596 protein binding p.Q596E(1) C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAAGATCTTGAGAGAGTGGA 0.403000 T ALK NSCLC 34 91 0 0 0.853193 0 0 INTS4 92105 broad.mit.edu 37 11 77669853 77669853 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:77669853C>T ENST00000534064.1 - 7 770 c.736G>A c.(736-738)Gaa>Aaa p.E246K INTS4_ENST00000529807.1_Missense_Mutation_p.E246K NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 246 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) CGCACTTGTTCATAGTCATCA 0.428000 6 31 0 0 0.248553 0 0 SPTBN1 6711 broad.mit.edu 37 2 54855387 54855387 + Splice_Site SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:54855387G>A ENST00000333896.5 + 12 2144 c.1759G>A c.(1759-1761)Ggt>Agt p.G587S SPTBN1_ENST00000356805.4_Splice_Site_p.G600S NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 600 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGACGGGGAAGGTAAGGATGG 0.507000 3 47 0 0 0.150653 0 0 ZNF646 9726 broad.mit.edu 37 16 31090265 31090265 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:31090265G>A ENST00000394979.2 + 1 3043 c.2620G>A c.(2620-2622)Gag>Aag p.E874K ZNF646_ENST00000300850.5_Missense_Mutation_p.E874K O15015 ZN646_HUMAN zinc finger protein 646 874 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 TAGGCCTGGGGAGGCGACCTC 0.647000 33 87 0 0 0.779181 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 39 0 0 0.184627 0 0 C9orf43 257169 broad.mit.edu 37 9 116190476 116190476 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr9:116190476G>C ENST00000288462.4 + 12 1526 c.1080G>C c.(1078-1080)caG>caC p.Q360H C9orf43_ENST00000374165.1_Missense_Mutation_p.Q360H NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 360 breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 AGCAGCAGCAGATGGAAAAAG 0.438000 3 127 0 0 0.115264 0 0 FAT4 79633 broad.mit.edu 37 4 126239494 126239494 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239494C>G ENST00000394329.3 + 1 1941 c.1928C>G c.(1927-1929)aCt>aGt p.T643S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 643 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGGTTGAGTACTATTTCCTCC 0.552000 17 29 0 0 0.539581 0 0 OR3A2 4995 broad.mit.edu 37 17 3181440 3181440 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:3181440C>A ENST00000408891.2 - 1 828 c.790G>T c.(790-792)Ggt>Tgt p.G264C NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 264 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 TTGAAGATACCTCTTCCAAAG 0.502000 3 27 0.150653 0.152491 0.150653 1 0 COL6A6 131873 broad.mit.edu 37 3 130282320 130282320 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:130282320G>A ENST00000358511.6 + 2 504 c.473G>A c.(472-474)gGa>gAa p.G158E COL6A6_ENST00000453409.2_Missense_Mutation_p.G158E NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 158 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CGGAAAGACGGAGTGAAAATC 0.498000 4 30 0 0 0.150653 0 0 MFF 56947 broad.mit.edu 37 2 228194464 228194464 + Translation_Start_Site SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:228194464G>A ENST00000353339.3 + 3 444 c.3G>A c.(1-3)atG>atA p.M1I MFF_ENST00000409616.1_5'UTR|MFF_ENST00000392059.1_Start_Codon_SNP_p.M1I|MFF_ENST00000337110.7_Intron|MFF_ENST00000304593.9_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000349901.7_Intron|MFF_ENST00000524634.1_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000354503.6_Intron NM_001277061.1 NP_001263990.1 Q9GZY8 MFF_HUMAN mitochondrial fission factor 1 integral to membrane|mitochondrial outer membrane breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2) 21 GTATTTAAATGAGTAAAGGAA 0.343000 17 53 0 0 0.608945 0 0 LENG8 114823 broad.mit.edu 37 19 54972001 54972001 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:54972001G>A ENST00000326764.5 + 16 2775 c.2296G>A c.(2296-2298)Gag>Aag p.E766K LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 0 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) CTTCGAGGGCGAGGCCGCCTG 0.701000 4 14 0 0 0.150653 0 0 FAT4 79633 broad.mit.edu 37 4 126240492 126240492 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240492C>T ENST00000394329.3 + 1 2939 c.2926C>T c.(2926-2928)Ctc>Ttc p.L976F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 976 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGTCCCACAGCTCTCCTCTAG 0.443000 20 53 0 0 0.624587 0 0 DCST2 127579 broad.mit.edu 37 1 154995858 154995858 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:154995858C>A ENST00000368424.3 - 13 2004 c.1946G>T c.(1945-1947)gGg>gTg p.G649V NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 649 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTCCAGGTCCCCCTGGTAGGA 0.602000 11 21 2.62699e-14 2.79538e-14 0.479597 1 0 NF1 4763 broad.mit.edu 37 17 29701127 29701127 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:29701127G>C ENST00000358273.4 + 58 8857 c.8474G>C c.(8473-8475)aGa>aCa p.R2825T NF1_ENST00000356175.3_Missense_Mutation_p.R2804T|NF1_ENST00000444181.2_Missense_Mutation_p.R618T NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2825 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CAGAAGCAAAGAAGCGCTGGC 0.468000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 9 49 0 0 0.387290 0 0 HSPA4L 22824 broad.mit.edu 37 4 128722997 128722997 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:128722997G>C ENST00000296464.4 + 6 998 c.587G>C c.(586-588)aGa>aCa p.R196T HSPA4L_ENST00000505726.1_Missense_Mutation_p.R170T|HSPA4L_ENST00000439123.2_Missense_Mutation_p.R227T|HSPA4L_ENST00000508776.1_Missense_Mutation_p.R196T NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 GAGAAACCAAGAAATGTAGTA 0.328000 15 13 0 0 0.539581 0 0 CD163 9332 broad.mit.edu 37 12 7640120 7640120 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:7640120C>A ENST00000359156.4 - 8 2087 c.1885G>T c.(1885-1887)Gcc>Tcc p.A629S CD163_ENST00000396620.3_Missense_Mutation_p.A662S|CD163_ENST00000432237.2_Missense_Mutation_p.A629S|CD163_ENST00000541972.1_Missense_Mutation_p.A617S NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 629 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GTAGAAAGGGCAACTCCACAT 0.507000 28 116 2.61193e-14 2.79129e-14 0.740014 1 0 DHX29 54505 broad.mit.edu 37 5 54593198 54593198 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:54593198C>A ENST00000251636.5 - 3 438 c.290G>T c.(289-291)aGa>aTa p.R97I NM_019030.2 NP_061903.2 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 97 ATP binding|ATP-dependent helicase activity|translation initiation factor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2) 46 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) TCCAATAATTCTTTGCTCTAG 0.299000 3 13 0.115264 0.117626 0.115264 1 0 TPRG1 285386 broad.mit.edu 37 3 188933083 188933083 + Silent SNP G G A rs141310543 TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:188933083G>A ENST00000345063.3 + 3 380 c.213G>A c.(211-213)ccG>ccA p.P71P TPRG1_ENST00000433971.1_Silent_p.P71P NM_198485.3 NP_940887.1 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 71 endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) CCACACAGCCGGGGGCCATTG 0.488000 25 23 0 0 0.788014 0 0 IFRD1 3475 broad.mit.edu 37 7 112096991 112096991 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:112096991C>A ENST00000403825.3 + 4 568 c.307C>A c.(307-309)Ctt>Att p.L103I IFRD1_ENST00000005558.4_Missense_Mutation_p.L103I|IFRD1_ENST00000535603.1_Missense_Mutation_p.L53I|IFRD1_ENST00000429071.1_Missense_Mutation_p.L103I NM_001550.3 NP_001541.2 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 103 multicellular organismal development|myoblast cell fate determination binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 GCAAGCAGCTCTTGAAGGTAT 0.338000 3 39 0.00024832 0.000257632 0.150653 1 0 OR9K2 441639 broad.mit.edu 37 12 55523876 55523876 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:55523876C>T ENST00000305377.5 + 1 412 c.324C>T c.(322-324)atC>atT p.I108I NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 AGGCTATGATCAACTTCTGGT 0.453000 16 64 0 0 0.500413 0 0 IKBKB 3551 broad.mit.edu 37 8 42183487 42183487 + Splice_Site SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:42183487G>C ENST00000520810.1 + 20 2172 c.e20-1 IKBKB_ENST00000379708.3_Splice_Site|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000416505.2_Splice_Site NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta anti-apoptosis|innate immune response|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 transcription, DNA-dependent|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TTGTCCCCTAGAGCAAGGTCC 0.522000 44 157 0 0 0.870114 0 0 HDDC2 51020 broad.mit.edu 37 6 125621706 125621706 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:125621706C>T ENST00000368377.4 - 2 387 c.184G>A c.(184-186)Gat>Aat p.D62N HDDC2_ENST00000608284.1_Missense_Mutation_p.D62N|HDDC2_ENST00000608295.1_Missense_Mutation_p.D62N|HDDC2_ENST00000398153.2_Missense_Mutation_p.D62N Q7Z4H3 HDDC2_HUMAN HD domain containing 2 62 HD. metal ion binding|phosphoric diester hydrolase activity endometrium(1)|large_intestine(1)|lung(4) 6 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0186) AGACGGTCATCTTTGATCACC 0.498000 15 61 0 0 0.500413 0 0 ASH1L 55870 broad.mit.edu 37 1 155449222 155449222 + Nonsense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:155449222G>A ENST00000368346.3 - 3 4078 c.3439C>T c.(3439-3441)Cag>Tag p.Q1147* ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q1147* Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1147 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GCAAGAGTCTGAATCATACTG 0.473000 16 46 0 0 0.520397 0 0 SLFN5 162394 broad.mit.edu 37 17 33586688 33586688 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:33586688G>C ENST00000299977.4 + 2 1127 c.979G>C c.(979-981)Gaa>Caa p.E327Q SLFN5_ENST00000542451.1_Missense_Mutation_p.E327Q|SLFN5_ENST00000592325.1_Missense_Mutation_p.E327Q NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 327 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) GCCCACAAGAGAATGGACTGC 0.517000 29 107 0 0 0.740014 0 0 MUC6 4588 broad.mit.edu 37 11 1017507 1017507 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:1017507G>A ENST00000421673.2 - 31 5344 c.5294C>T c.(5293-5295)tCt>tTt p.S1765F NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1765 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCTGGTGGTAGAAGTTGAGGT 0.577000 33 1082 0 0 0.654019 0 0 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:7578275G>A ENST00000420246.2 - 6 706 c.574C>T c.(574-576)Cag>Tag p.Q192* TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 192 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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) ATAAGATGCTGAGGAGGGGCC 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) 15 32 0 0 0.539581 0 0 SRRM2 23524 broad.mit.edu 37 16 2813668 2813668 + Missense_Mutation SNP G G A rs150618420 by1000genomes TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:2813668G>A ENST00000301740.8 + 11 3688 c.3139G>A c.(3139-3141)Gag>Aag p.E1047K NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1047 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 ACCACCAGGCGAGAGCTATTT 0.468000 12 83 0 0 0.479597 0 0 KDM4B 23030 broad.mit.edu 37 19 5135468 5135468 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:5135468C>G ENST00000159111.4 + 15 2422 c.2204C>G c.(2203-2205)tCt>tGt p.S735C KDM4B_ENST00000536461.1_Missense_Mutation_p.S769C NM_015015.2 NP_055830 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 735 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 TGCTTCACCTCTGGCGGTGAG 0.642000 13 37 0 0 0.435327 0 0 PLEKHF2 79666 broad.mit.edu 37 8 96166849 96166849 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:96166849C>T ENST00000315367.3 + 2 818 c.577C>T c.(577-579)Ctt>Ttt p.L193F PLEKHF2_ENST00000519516.1_Missense_Mutation_p.L193F NM_024613.3 NP_078889.1 Q9H8W4 PKHF2_HUMAN pleckstrin homology domain containing, family F (with FYVE domain) member 2 193 transport vesicle metal ion binding|protein binding breast(1)|large_intestine(1)|lung(1)|ovary(2) 5 Breast(36;3.18e-05) GAGATTTCTTCTTCCCAGCCA 0.507000 51 98 0 0 0.870114 0 0 ATP2B2 491 broad.mit.edu 37 3 10401790 10401790 + Silent SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:10401790G>C ENST00000397077.1 - 12 2117 c.1542C>G c.(1540-1542)ggC>ggG p.G514G ATP2B2_ENST00000360273.2_Silent_p.G559G|ATP2B2_ENST00000352432.4_Silent_p.G559G|ATP2B2_ENST00000383800.4_Silent_p.G514G|ATP2B2_ENST00000343816.4_Silent_p.G545G Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 559 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GAGGCAGGGCGCCCTCCTTCT 0.687000 30 53 0 0 0.840704 0 0 PLXNB2 23654 broad.mit.edu 37 22 50714172 50714172 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr22:50714172C>G ENST00000449103.1 - 37 5618 c.5478G>C c.(5476-5478)caG>caC p.Q1826H PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1826H|AL022328.1_ENST00000595015.1_Missense_Mutation_p.L24V O15031 PLXB2_HUMAN plexin B2 1826 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGCGGCAATCTGCTGCAGGC 0.597000 OREG0026679 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 55 0 0 0.411799 0 0 GPR45 11250 broad.mit.edu 37 2 105858447 105858447 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:105858447G>A ENST00000258456.1 + 1 248 c.132G>A c.(130-132)atG>atA p.M44I NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 44 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 TGCTGCTGATGACCGTGGTGG 0.617000 74 193 0 0 0.870114 0 0 EPHB4 2050 broad.mit.edu 37 7 100417263 100417263 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:100417263C>G ENST00000358173.3 - 6 1681 c.1213G>C c.(1213-1215)Gag>Cag p.E405Q EPHB4_ENST00000360620.3_Missense_Mutation_p.E405Q|EPHB4_ENST00000477446.1_5'UTR NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 405 Fibronectin type-III 1. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) GCAGTGACCTCAAAGGTATAG 0.622000 13 146 0 0 0.479597 0 0 THAP4 51078 broad.mit.edu 37 2 242572898 242572898 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:242572898C>T ENST00000407315.1 - 2 1105 c.674G>A c.(673-675)gGa>gAa p.G225E NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 225 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) CGCCCCAGATCCTGGGGGCGT 0.557000 28 63 0 0 0.729181 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236198 33236198 + Nonsense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:33236198C>G ENST00000401073.2 + 6 1488 c.1418C>G c.(1417-1419)tCa>tGa p.S473* KIAA1522_ENST00000373480.1_Nonsense_Mutation_p.S414*|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.S425* NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 414 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GCTGAGGCCTCAGACACACTC 0.677000 7 67 0 0 0.335167 0 0 FAT4 79633 broad.mit.edu 37 4 126239141 126239141 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239141C>G ENST00000394329.3 + 1 1588 c.1575C>G c.(1573-1575)atC>atG p.I525M NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 525 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGTTCCATATCAGTGAACATA 0.537000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 71 0 0 0.779181 0 0 CACNA1F 778 broad.mit.edu 37 X 49071570 49071570 + Silent SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chrX:49071570G>C ENST00000376265.2 - 29 3667 c.3606C>G c.(3604-3606)ctC>ctG p.L1202L CACNA1F_ENST00000323022.5_Silent_p.L1191L|CACNA1F_ENST00000376251.1_Silent_p.L1137L NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1202 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CAACTGTGTTGAGCAGGATGA 0.552000 29 29 0 0 0.827153 0 0 CFHR1 3078 broad.mit.edu 37 1 196794771 196794771 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:196794771G>C ENST00000320493.5 + 2 311 c.223G>C c.(223-225)Gaa>Caa p.E75Q CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Missense_Mutation_p.E75Q NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 75 Sushi 1. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 ATGCACAGAAGAAGGATGGTC 0.388000 21 46 0 0 0.729181 0 0 FBN1 2200 broad.mit.edu 37 15 48779383 48779383 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:48779383C>T ENST00000316623.5 - 29 3933 c.3478G>A c.(3478-3480)Gag>Aag p.E1160K NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 1160 EGF-like 18; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCACTCAGCTCACATTCATTG 0.468000 7 63 0 0 0.361761 0 0 FLNC 2318 broad.mit.edu 37 7 128488646 128488646 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:128488646G>C ENST00000325888.8 + 27 4873 c.4612G>C c.(4612-4614)Gat>Cat p.D1538H FLNC_ENST00000346177.6_Missense_Mutation_p.D1538H NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1538 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CCCAGCTCATGATGCCAGCAA 0.642000 54 254 0 0 0.870114 0 0 DOCK9 23348 broad.mit.edu 37 13 99459962 99459962 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr13:99459962C>G ENST00000376460.1 - 51 5589 c.5509G>C c.(5509-5511)Gat>Cat p.D1837H DOCK9_ENST00000339416.2_Missense_Mutation_p.D1824H NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1838 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCAAATTTATCCGAGTACAGT 0.373000 9 39 0 0 0.361761 0 0 CENPE 1062 broad.mit.edu 37 4 104082321 104082321 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:104082321C>T ENST00000265148.3 - 20 2142 c.2053G>A c.(2053-2055)Gat>Aat p.D685N CENPE_ENST00000380026.3_Missense_Mutation_p.D660N NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 685 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) TTCTCCAGATCAACTTGCATT 0.313000 6 16 0 0 0.248553 0 0 FAT4 79633 broad.mit.edu 37 4 126240344 126240344 + Silent SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240344C>A ENST00000394329.3 + 1 2791 c.2778C>A c.(2776-2778)ggC>ggA p.G926G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 926 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTGTCAATGGCATGGTACTCT 0.473000 8 40 0.000978159 0.00101063 0.387290 1 0 CHD4 1108 broad.mit.edu 37 12 6705273 6705273 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:6705273C>G ENST00000309577.6 - 13 2086 c.1923G>C c.(1921-1923)ttG>ttC p.L641F CHD4_ENST00000357008.2_Missense_Mutation_p.L641F|CHD4_ENST00000544040.1_Missense_Mutation_p.L634F|CHD4_ENST00000544484.1_Missense_Mutation_p.L638F Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 641 Chromo 2. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GCCACTTGATCAAGTAGTGGA 0.507000 31 75 0 0 0.769981 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64599095 64599095 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:64599095C>T ENST00000498707.1 - 22 3622 c.3280G>A c.(3280-3282)Gag>Aag p.E1094K ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E1066K NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1094 TSP type-1 5. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) GGCTTGGTCTCAGGGTCACAC 0.488000 17 102 0 0 0.592651 0 0 MYO1G 64005 broad.mit.edu 37 7 45015119 45015119 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:45015119C>T ENST00000258787.7 - 4 664 c.528G>A c.(526-528)ccG>ccA p.P176P NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 176 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 GTCCTCCGATCGGGTCCCCCT 0.607000 16 28 0 0 0.654019 0 0 CENPE 1062 broad.mit.edu 37 4 104082409 104082409 + Splice_Site SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:104082409C>T ENST00000265148.3 - 20 2055 c.e20-1 CENPE_ENST00000380026.3_Splice_Site NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 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) CAAGTTCTTTCTATTGAGAAA 0.303000 3 13 0 0 0.150653 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30094402 30094402 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:30094402G>A ENST00000449726.1 + 8 1224 c.874G>A c.(874-876)Gac>Aac p.D292N PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D292N|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D292N|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D292N NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 292 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 GTCTGGATCAGACTCAAGTTG 0.383000 22 79 0 0 0.667858 0 0 LRRCC1 85444 broad.mit.edu 37 8 86050700 86050700 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:86050700G>C ENST00000414626.2 + 16 3659 c.2770G>C c.(2770-2772)Gaa>Caa p.E924Q LRRCC1_ENST00000360375.3_Missense_Mutation_p.E944Q Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 944 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 CAAAAGTATTGAACTACAAAA 0.333000 13 20 0 0 0.500413 0 0 RBBP6 5930 broad.mit.edu 37 16 24583041 24583041 + Missense_Mutation SNP A A G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:24583041A>G ENST00000319715.4 + 18 5086 c.4654A>G c.(4654-4656)Aaa>Gaa p.K1552E RBBP6_ENST00000348022.2_Missense_Mutation_p.K1518E|RBBP6_ENST00000381039.3_Missense_Mutation_p.K712E NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1552 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TTATGATACTAAACGGCCAAA 0.368000 13 33 0 0 0.479597 0 0 FAT4 79633 broad.mit.edu 37 4 126240563 126240563 + Silent SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240563C>G ENST00000394329.3 + 1 3010 c.2997C>G c.(2995-2997)ctC>ctG p.L999L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 999 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TTGACCAACTCTCTTATGAAG 0.408000 34 85 0 0 0.853193 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572567 140572567 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:140572567G>A ENST00000239446.4 + 1 626 c.442G>A c.(442-444)Gaa>Aaa p.E148K NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 148 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACAGCTGAAGGGACAGC 0.413000 27 42 0 0 0.706142 0 0 FMNL2 114793 broad.mit.edu 37 2 153483060 153483060 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:153483060G>C ENST00000288670.9 + 17 2351 c.1984G>C c.(1984-1986)Gag>Cag p.E662Q FMNL2_ENST00000475377.2_Missense_Mutation_p.E37Q|FMNL2_ENST00000497192.1_3'UTR NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 662 FH2. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 GGATGAATTTGAGGAAATATT 0.358000 5 9 0 0 0.184627 0 0 MMP25 64386 broad.mit.edu 37 16 3100442 3100442 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:3100442G>A ENST00000336577.4 + 4 793 c.556G>A c.(556-558)Gac>Aac p.D186N MMP25_ENST00000570755.1_3'UTR NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 186 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 CTACCCCTTCGACGGGTTGGG 0.622000 34 62 0 0 0.834066 0 0 N4BP2 55728 broad.mit.edu 37 4 40146258 40146258 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:40146258C>G ENST00000261435.6 + 16 5397 c.4981C>G c.(4981-4983)Ctt>Gtt p.L1661V NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 1661 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TTAGGGTACTCTTCATGAGCA 0.428000 24 62 0 0 0.717897 0 0 MAPK15 225689 broad.mit.edu 37 8 144803789 144803789 + Silent SNP G G T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:144803789G>T ENST00000338033.4 + 12 1394 c.1275G>T c.(1273-1275)ggG>ggT p.G425G NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 425 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTCTCCTAGGGAATGGGGAAA 0.662000 60 64 2.41358e-16 2.59043e-16 0.870114 1 0 PDXDC2P 283970 broad.mit.edu 37 16 70010650 70010650 + RNA SNP A A G rs144900726 by1000genomes TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:70010650A>G ENST00000531894.1 - 0 3748 NR_003610.1 AGGGCCGAAGAAGGGAATGTT 0.468000 4 111 0 0 0.184627 0 0 FAT4 79633 broad.mit.edu 37 4 126239282 126239282 + Silent SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239282C>G ENST00000394329.3 + 1 1729 c.1716C>G c.(1714-1716)ctC>ctG p.L572L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 572 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TAGTAACTCTCCTAGATGTGA 0.498000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 44 0 0 0.575678 0 0 PTPRS 5802 broad.mit.edu 37 19 5244216 5244216 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:5244216G>A ENST00000372412.4 - 11 1502 c.1269C>T c.(1267-1269)ggC>ggT p.G423G PTPRS_ENST00000592099.1_Silent_p.G409G|PTPRS_ENST00000588012.1_Silent_p.G409G|PTPRS_ENST00000357368.4_Silent_p.G422G|PTPRS_ENST00000348075.2_Silent_p.G409G|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Silent_p.G409G|PTPRS_ENST00000587303.1_Silent_p.G422G|PTPRS_ENST00000262963.6_Silent_p.G418G Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 422 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGGCCTGCTCGCCTGTGCGGG 0.711000 21 86 0 0 0.624587 0 0 MYOF 26509 broad.mit.edu 37 10 95123738 95123738 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr10:95123738C>T ENST00000371501.4 - 27 2970 c.2848G>A c.(2848-2850)Gag>Aag p.E950K MYOF_ENST00000358334.5_Missense_Mutation_p.E937K|MYOF_ENST00000359263.4_Missense_Mutation_p.E950K|MYOF_ENST00000371502.4_Missense_Mutation_p.E950K Q9NZM1 MYOF_HUMAN myoferlin 950 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TAGGTGTCCTCGGCCGGCTTC 0.612000 70 63 0 0 0.870114 0 0 FAM162A 26355 broad.mit.edu 37 3 122123148 122123148 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:122123148G>A ENST00000477892.1 + 3 285 c.201G>A c.(199-201)caG>caA p.Q67Q FAM162A_ENST00000232125.5_Silent_p.Q57Q|FAM162A_ENST00000469967.1_Silent_p.Q67Q NM_014367.3 NP_055182.3 Q96A26 F162A_HUMAN family with sequence similarity 162, member A 67 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 6 CGGATTGGCAGAAAAAGATCC 0.373000 9 20 0 0 0.361761 0 0 CSMD3 114788 broad.mit.edu 37 8 113241090 113241090 + Nonsense_Mutation SNP G G T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:113241090G>T ENST00000297405.5 - 70 11103 c.10859C>A c.(10858-10860)tCa>tAa p.S3620* CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S3550*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S3451*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S3580* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3620 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGGTTGATTTGAAGAATTTGA 0.279000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 18 1.20859e-23 1.31991e-23 0.557998 1 0 PSG3 5671 broad.mit.edu 37 19 43236936 43236936 + Splice_Site SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:43236936G>A ENST00000327495.5 - 3 893 c.709C>T c.(709-711)Ccg>Tcg p.P237S PSG3_ENST00000595140.1_Splice_Site_p.P237S NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 237 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) AGATACTCACGGAGGAGATTC 0.542000 141 277 0 0 0.870114 0 0 ZNF141 7700 broad.mit.edu 37 4 367226 367226 + Missense_Mutation SNP A A G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:367226A>G ENST00000240499.7 + 4 1149 c.1000A>G c.(1000-1002)Act>Gct p.T334A ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 334 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 GAGAATTCATACTGGAGAGAA 0.398000 3 59 0 0 0.115264 0 0 FAT4 79633 broad.mit.edu 37 4 126240826 126240826 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240826C>G ENST00000394329.3 + 1 3273 c.3260C>G c.(3259-3261)aCt>aGt p.T1087S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1087 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTGAATGTTACTGTAATTTTA 0.393000 38 100 0 0 0.864702 0 0 AMZ1 155185 broad.mit.edu 37 7 2749415 2749415 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr7:2749415C>A ENST00000312371.4 + 6 1281 c.913C>A c.(913-915)Cat>Aat p.H305N AMZ1_ENST00000407112.1_Missense_Mutation_p.A248E|AMZ1_ENST00000489665.1_3'UTR NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 305 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) GAAGCTGCAGCATGTCCTGGG 0.701000 OREG0017838 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 31 2.4624e-09 2.58707e-09 0.575678 1 0 PHKG2 5261 broad.mit.edu 37 16 30764566 30764566 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:30764566G>A ENST00000563588.1 + 5 579 c.340G>A c.(340-342)Gag>Aag p.E114K PHKG2_ENST00000424889.3_Missense_Mutation_p.E114K|PHKG2_ENST00000328273.7_Missense_Mutation_p.E114K NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 114 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) GCGGAAGGGAGAGCTGTTTGA 0.552000 13 39 0 0 0.500413 0 0 SAR1B 51128 broad.mit.edu 37 5 133942733 133942733 + Silent SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:133942733C>G ENST00000402673.2 - 7 782 c.504G>C c.(502-504)ctG>ctC p.L168L SAR1B_ENST00000509937.1_Silent_p.L100L|SAR1B_ENST00000439578.1_Silent_p.L168L|SAR1B_ENST00000502539.1_Silent_p.L100L|SAR1B_ENST00000507419.1_Silent_p.L100L NM_016103.3 NP_057187.1 Q9Y6B6 SAR1B_HUMAN SAR1 homolog B (S. cerevisiae) 168 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi cisterna membrane GTP binding|GTPase activity|metal ion binding kidney(2)|lung(2)|urinary_tract(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTCGGGCATTCAGTTCTTTCA 0.403000 24 62 0 0 0.717897 0 0 FAT4 79633 broad.mit.edu 37 4 126240499 126240499 + Missense_Mutation SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240499C>A ENST00000394329.3 + 1 2946 c.2933C>A c.(2932-2934)tCt>tAt p.S978Y NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 978 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAGCTCTCCTCTAGTGTCATC 0.453000 22 55 4.26978e-12 4.52415e-12 0.654019 1 0 CLDN1 9076 broad.mit.edu 37 3 190026071 190026071 + Missense_Mutation SNP C C G rs147881276 TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:190026071C>G ENST00000295522.3 - 4 899 c.631G>C c.(631-633)Gtg>Ctg p.V211L NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 211 Interactions with TJP1, TJP2, TJP3 and INADL (By similarity). calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) CTGTGTCACACGTAGTCTTTC 0.448000 22 150 0 0 0.750413 0 0 RTCA 8634 broad.mit.edu 37 1 100756986 100756986 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:100756986G>C ENST00000370128.4 + 11 1196 c.1027G>C c.(1027-1029)Gat>Cat p.D343H RTCA_ENST00000260563.4_Missense_Mutation_p.D356H NM_003729.3 NP_003720.1 O00442 RTC1_HUMAN RNA 3'-terminal phosphate cyclase 343 RNA processing mitochondrion|nucleoplasm ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity GAAATCAGAAGATGAAGAAGA 0.358000 13 51 0 0 0.500413 0 0 TTN 7273 broad.mit.edu 37 2 179436844 179436844 + Missense_Mutation SNP G G T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:179436844G>T ENST00000589042.1 - 326 74239 c.74015C>A c.(74014-74016)aCt>aAt p.T24672N TTN_ENST00000460472.2_Missense_Mutation_p.T15607N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15799N|TTN_ENST00000591111.1_Missense_Mutation_p.T23031N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T22104N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15732N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23031 Fibronectin type-III 79. 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) AGTGGCTTCAGTGACCTTGAC 0.478000 13 22 1.02788e-11 1.0845e-11 0.520397 1 0 CYP4B1 1580 broad.mit.edu 37 1 47283813 47283813 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:47283813C>G ENST00000271153.4 + 11 1316 c.1280C>G c.(1279-1281)tCt>tGt p.S427C CYP4B1_ENST00000371919.4_Missense_Mutation_p.S413C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.S428C|CYP4B1_ENST00000452782.2_Missense_Mutation_p.S265C P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 427 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.S427F(1) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) GTCTTTGACTCTCTGCGCTTT 0.582000 16 107 0 0 0.557998 0 0 FBN1 2200 broad.mit.edu 37 15 48888548 48888548 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:48888548C>G ENST00000316623.5 - 6 925 c.470G>C c.(469-471)gGa>gCa p.G157A NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 157 EGF-like 3. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACACCTTCCTCCATTGAGACA 0.418000 3 60 0 0 0.150653 0 0 NOB1 28987 broad.mit.edu 37 16 69776286 69776286 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:69776286C>T ENST00000268802.5 - 9 1217 c.1188G>A c.(1186-1188)cgG>cgA p.R396R CTD-2033A16.3_ENST00000575838.1_RNA NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 396 nucleus metal ion binding|protein binding p.R396R(1) breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TTAAGCGTCTCCGCCCAGCTC 0.587000 11 37 0 0 0.457914 0 0 TNN 63923 broad.mit.edu 37 1 175066815 175066815 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:175066815G>A ENST00000239462.4 + 8 1964 c.1851G>A c.(1849-1851)ccG>ccA p.P617P NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 617 Fibronectin type-III 4. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCAACGCCCCGACAGGTAACA 0.512000 4 94 0 0 0.217242 0 0 FOXO3 2309 broad.mit.edu 37 6 108984897 108984897 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:108984897G>A ENST00000406360.1 + 2 1204 c.861G>A c.(859-861)caG>caA p.Q287Q FOXO3_ENST00000540898.1_Silent_p.Q67Q|FOXO3_ENST00000343882.6_Silent_p.Q287Q NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 287 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) GTCCCTCCCAGCTCTCCAAGT 0.597000 12 18 0 0 0.539581 0 0 HEXIM1 10614 broad.mit.edu 37 17 43226833 43226833 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:43226833G>C ENST00000332499.2 + 1 2150 c.276G>C c.(274-276)caG>caC p.Q92H NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 92 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 AGAAGGGCCAGAATGGGGACG 0.682000 OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 29 0 0 0.150653 0 0 SCAF4 57466 broad.mit.edu 37 21 33043774 33043774 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr21:33043774C>T ENST00000286835.7 - 20 3764 c.3382G>A c.(3382-3384)Gag>Aag p.E1128K SCAF4_ENST00000399804.1_Missense_Mutation_p.E1106K|SCAF4_ENST00000434667.3_Missense_Mutation_p.E1113K NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 1128 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GAGGTAGCCTCAGCAGGTAAC 0.498000 12 36 0 0 0.500413 0 0 PDPR 55066 broad.mit.edu 37 16 70190728 70190728 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:70190728C>T ENST00000288050.4 + 19 3543 c.2586C>T c.(2584-2586)ttC>ttT p.F862F PDPR_ENST00000542659.1_Silent_p.F207F|PDPR_ENST00000568530.1_Silent_p.F862F|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000567046.1_Silent_p.F220F|PDPR_ENST00000398122.3_Silent_p.F762F NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 862 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) CCTCCCTCTTCACCCAGAAGC 0.562000 4 30 0 0 0.217242 0 0 TDRD6 221400 broad.mit.edu 37 6 46657989 46657989 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:46657989G>A ENST00000544460.1 + 1 2378 c.2124G>A c.(2122-2124)caG>caA p.Q708Q TDRD6_ENST00000316081.6_Silent_p.Q708Q NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 708 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AAGGAGAGCAGAAAGCCAAGA 0.408000 15 24 0 0 0.539581 0 0 SNX22 79856 broad.mit.edu 37 15 64446167 64446167 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:64446167C>T ENST00000325881.4 + 6 485 c.426C>T c.(424-426)ttC>ttT p.F142F NM_024798.2 NP_079074.2 Q96L94 SNX22_HUMAN sorting nexin 22 142 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding large_intestine(3)|lung(1)|urinary_tract(2) 6 TCCTGAGCTTCCATGTGGATC 0.612000 OREG0023180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 176 0 0 0.859065 0 0 UROC1 131669 broad.mit.edu 37 3 126202223 126202223 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:126202223C>G ENST00000290868.2 - 19 1932 c.1879G>C c.(1879-1881)Gtc>Ctc p.V627L UROC1_ENST00000383579.3_Missense_Mutation_p.V687L NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 627 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CCATTGGAGACATCCCAGCTG 0.617000 6 43 0 0 0.217242 0 0 SEC24B 10427 broad.mit.edu 37 4 110415839 110415839 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:110415839C>T ENST00000265175.5 + 6 1370 c.1315C>T c.(1315-1317)Cca>Tca p.P439S SEC24B_ENST00000399100.2_Missense_Mutation_p.P404S|SEC24B_ENST00000504968.2_Missense_Mutation_p.P470S NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 439 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|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TGCTTCTGCTCCAGCTCCAGC 0.488000 40 107 0 0 0.870114 0 0 AGPS 8540 broad.mit.edu 37 2 178402841 178402841 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:178402841C>G ENST00000264167.4 + 20 2041 c.1895C>G c.(1894-1896)tCt>tGt p.S632C AGPS_ENST00000409888.1_Missense_Mutation_p.S163C NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 632 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) GAAAGTATCTCTGATGTCGGC 0.378000 25 64 0 0 0.706142 0 0 GLB1L3 112937 broad.mit.edu 37 11 134180464 134180464 + Splice_Site SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:134180464G>C ENST00000431683.2 + 12 1099 c.e12-1 NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) GTGTCTTGCAGACTATGATGC 0.522000 6 17 0 0 0.278610 0 0 PARD3B 117583 broad.mit.edu 37 2 205983760 205983760 + Missense_Mutation SNP A A C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:205983760A>C ENST00000406610.2 + 7 1003 c.796A>C c.(796-798)Acc>Ccc p.T266P PARD3B_ENST00000358768.2_Missense_Mutation_p.T266P|PARD3B_ENST00000349953.3_Missense_Mutation_p.T266P|PARD3B_ENST00000462231.1_Missense_Mutation_p.T266P|PARD3B_ENST00000351153.1_Missense_Mutation_p.T266P 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 266 PDZ 1. 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) CGTAGACAAAACCTTTGCTCA 0.363000 17 65 0 0 0.592651 0 0 DSCAM 1826 broad.mit.edu 37 21 41450881 41450881 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr21:41450881C>T ENST00000400454.1 - 26 4921 c.4444G>A c.(4444-4446)Gag>Aag p.E1482K NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1482 Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GCAAACAGCTCCTGCTCCTTT 0.582000 19 47 0 0 0.717897 0 0 CCDC61 729440 broad.mit.edu 37 19 46509948 46509948 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:46509948C>G ENST00000263284.2 + 5 534 c.534C>G c.(532-534)atC>atG p.I178M CCDC61_ENST00000595358.1_Missense_Mutation_p.I121M|CCDC61_ENST00000536603.1_Missense_Mutation_p.I121M|CCDC61_ENST00000594087.1_Missense_Mutation_p.I121M coiled-coil domain containing 61 endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) GCTACCTGATCCTCATCTACT 0.652000 58 110 0 0 0.870114 0 0 ANKRD54 129138 broad.mit.edu 37 22 38234561 38234561 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr22:38234561C>T ENST00000215941.4 - 3 613 c.421G>A c.(421-423)Gac>Aac p.D141N ANKRD54_ENST00000406423.1_Missense_Mutation_p.D21N|ANKRD54_ENST00000609454.1_Intron|ANKRD54_ENST00000411961.2_Missense_Mutation_p.D125N NM_138797.2 NP_620152.1 Q6NXT1 ANR54_HUMAN ankyrin repeat domain 54 141 lung(1) 1 Melanoma(58;0.045) CGGCCCTTGTCATCAGCTGCA 0.577000 9 23 0 0 0.387290 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 5 137 0 0 0.248553 0 0 LTF 4057 broad.mit.edu 37 3 46497843 46497843 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:46497843C>T ENST00000231751.4 - 3 548 c.253G>A c.(253-255)Gag>Aag p.E85K LTF_ENST00000417439.1_Missense_Mutation_p.E85K|LTF_ENST00000426532.2_Missense_Mutation_p.E41K NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 85 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity p.E85K(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) AGGCCTGCCTCGTATATGAAA 0.577000 25 84 0 0 0.796494 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819513 159819513 + RNA SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:159819513G>C ENST00000497452.1 - 0 517 CAAAGAAAAAGAAAAAGATAC 0.483000 36 72 0 0 0.796494 0 0 PAN2 9924 broad.mit.edu 37 12 56721825 56721825 + Missense_Mutation SNP A A T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:56721825A>T ENST00000425394.2 - 5 981 c.605T>A c.(604-606)aTg>aAg p.M202K PAN2_ENST00000440411.3_Missense_Mutation_p.M202K|PAN2_ENST00000257931.5_Missense_Mutation_p.M202K|PAN2_ENST00000548043.1_Missense_Mutation_p.M202K NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 202 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TGTCTGTCTCATGATGGTGAC 0.507000 6 33 0 0 0.248553 0 0 PKP2 5318 broad.mit.edu 37 12 32977077 32977077 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:32977077C>T ENST00000340811.4 - 7 1684 c.1576G>A c.(1576-1578)Gct>Act p.A526T PKP2_ENST00000070846.6_Missense_Mutation_p.A570T NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 570 T -> M. cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CTCCCATCAGCGCCAGCAGAA 0.413000 23 40 0 0 0.667858 0 0 CDH26 60437 broad.mit.edu 37 20 58545159 58545159 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr20:58545159G>A ENST00000348616.4 + 3 449 c.149G>A c.(148-150)cGg>cAg p.R50Q CDH26_ENST00000244047.5_Missense_Mutation_p.R50Q NM_177980.2 NP_817089.1 Q8IXH8 CAD26_HUMAN cadherin 26 50 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CAGCCTCTACGGCGATCCAAG 0.498000 42 98 0 0 0.870114 0 0 BAGE2 85319 broad.mit.edu 37 21 11038869 11038869 + RNA SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr21:11038869G>C ENST00000470054.1 - 0 1334 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGGTAATTACGCAGCATGTCA 0.443000 5 265 0 0 0.557998 0 0 NR3C1 2908 broad.mit.edu 37 5 142680325 142680325 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:142680325C>T ENST00000343796.2 - 5 2465 c.1472G>A c.(1471-1473)cGa>cAa p.R491Q NR3C1_ENST00000394466.2_Missense_Mutation_p.R492Q|NR3C1_ENST00000504572.1_Missense_Mutation_p.R492Q|NR3C1_ENST00000416954.2_Missense_Mutation_p.R94Q|NR3C1_ENST00000231509.3_Missense_Mutation_p.R492Q|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000394464.2_Missense_Mutation_p.R491Q|NR3C1_ENST00000415690.2_Missense_Mutation_p.R491Q|NR3C1_ENST00000424646.2_Missense_Mutation_p.R465Q|NR3C1_ENST00000503201.1_Missense_Mutation_p.R491Q NM_001018074.1|NM_001018075.1|NM_001018077.1 NP_001018084.1|NP_001018085.1|NP_001018087.1 P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 491 Hinge. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) CTTTGTTTTTCGAGCTGTGGG 0.348000 3 7 0 0 0.115264 0 0 C20orf96 140680 broad.mit.edu 37 20 259903 259903 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr20:259903G>A ENST00000360321.2 - 5 513 c.375C>T c.(373-375)ctC>ctT p.L125L C20orf96_ENST00000400269.3_Silent_p.L67L|C20orf96_ENST00000382369.5_Silent_p.L90L NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 125 endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) GCTCCCGGTTGAGCTTGCTGA 0.672000 23 187 0 0 0.693898 0 0 GRIN2D 2906 broad.mit.edu 37 19 48945175 48945175 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:48945175G>A ENST00000263269.3 + 11 2490 c.2402G>A c.(2401-2403)cGg>cAg p.R801Q NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 801 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) CGCTGGAAGCGGCCCATCGAC 0.672000 3 37 0 0 0.150653 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70010646 70010646 + RNA SNP G G A rs149870591 by1000genomes TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:70010646G>A ENST00000531894.1 - 0 3748 NR_003610.1 CTGTAGGGCCGAAGAAGGGAA 0.478000 4 121 0 0 0.150653 0 0 PPARD 5467 broad.mit.edu 37 6 35392554 35392554 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:35392554G>C ENST00000311565.4 + 8 1425 c.1076G>C c.(1075-1077)gGa>gCa p.G359A PPARD_ENST00000337400.2_Missense_Mutation_p.G359A|PPARD_ENST00000448077.2_Missense_Mutation_p.G320A|PPARD_ENST00000418635.2_Missense_Mutation_p.G261A|PPARD_ENST00000360694.3_Missense_Mutation_p.G359A|PPARD_ENST00000444397.1_Missense_Mutation_p.G359A|PPARD_ENST00000540939.1_Missense_Mutation_p.G256A NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 359 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) ATTCTGTGTGGAGGTGAGTGA 0.562000 15 22 0 0 0.575678 0 0 STAG2 10735 broad.mit.edu 37 X 123185061 123185061 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chrX:123185061C>T ENST00000371160.1 + 12 1398 c.1108C>T c.(1108-1110)Cgg>Tgg p.R370W STAG2_ENST00000371145.3_Missense_Mutation_p.R370W|STAG2_ENST00000354548.5_Missense_Mutation_p.R301W|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.R370W|STAG2_ENST00000218089.9_Missense_Mutation_p.R370W|STAG2_ENST00000371157.3_Missense_Mutation_p.R370W NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 370 SCD. cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding p.R370G(1)|p.R370W(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TTTTACCAGTCGGTTCAAGGT 0.294000 4 5 0 0 0.184627 0 0 FAH 2184 broad.mit.edu 37 15 80465390 80465390 + Silent SNP C C T rs145851627 TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:80465390C>T ENST00000539156.1 + 8 2769 c.531C>T c.(529-531)ctC>ctT p.L177L FAH_ENST00000261755.5_Silent_p.L247L|FAH_ENST00000407106.1_Silent_p.L247L|FAH_ENST00000561421.1_Silent_p.L247L|FAH_ENST00000558627.1_3'UTR P16930 FAAA_HUMAN fumarylacetoacetate hydrolase (fumarylacetoacetase) 247 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding p.L247L(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATGTCCCTCTCGGGCCATTCC 0.572000 Tyrosinemia, type 1 OREG0023354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 88 0 0 0.639603 0 0 PHLPP1 23239 broad.mit.edu 37 18 60642723 60642723 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr18:60642723G>C ENST00000400316.4 + 16 4094 c.2313G>C c.(2311-2313)ttG>ttC p.L771F PHLPP1_ENST00000262719.5_Missense_Mutation_p.L1283F NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1283 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 CCTTCACCTTGACCTCTGCTA 0.507000 27 91 0 0 0.740014 0 0 TMEM150B 284417 broad.mit.edu 37 19 55828287 55828287 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:55828287G>A ENST00000326652.4 - 7 554 c.372C>T c.(370-372)ttC>ttT p.F124F TMEM150B_ENST00000438693.1_Silent_p.F124F NM_001282011.1 NP_001268940.1 A6NC51 T150B_HUMAN transmembrane protein 150B 124 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 TACCCAAGATGAAGGCAAGGA 0.637000 6 14 0 0 0.278610 0 0 TAZ 6901 broad.mit.edu 37 X 153640483 153640483 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chrX:153640483G>A ENST00000299328.5 + 2 459 c.170G>A c.(169-171)cGa>cAa p.R57Q TAZ_ENST00000369776.4_Intron|TAZ_ENST00000351413.4_Missense_Mutation_p.R57Q|TAZ_ENST00000350743.4_Missense_Mutation_p.R57Q|TAZ_ENST00000369790.4_Missense_Mutation_p.R57Q|TAZ_ENST00000475699.1_Missense_Mutation_p.R57Q NM_000116.3 NP_000107.1 Q16635 TAZ_HUMAN tafazzin 57 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity lung(1) 1 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) ATCGAGAAGCGAGGCCCGGCC 0.662000 OREG0003602 type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 14 6 0 0 0.500413 0 0 APOBEC1 339 broad.mit.edu 37 12 7805382 7805382 + Missense_Mutation SNP G G T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr12:7805382G>T ENST00000229304.4 - 3 114 c.94C>A c.(94-96)Ctt>Att p.L32I NM_001644.3 NP_001635.2 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 32 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 TCTTTACGAAGTTCTCTGGGG 0.478000 20 54 2.24059e-21 2.43628e-21 0.706142 1 0 ARRDC3 57561 broad.mit.edu 37 5 90670966 90670966 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:90670966C>G ENST00000265138.3 - 5 909 c.643G>C c.(643-645)Gag>Cag p.E215Q NM_020801.2 NP_065852.1 Q96B67 ARRD3_HUMAN arrestin domain containing 3 215 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GAGCAGTTCTCAATCTCAGCA 0.388000 4 33 0 0 0.150653 0 0 MTR 4548 broad.mit.edu 37 1 236978926 236978926 + Missense_Mutation SNP A A G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:236978926A>G ENST00000366577.5 + 7 1026 c.632A>G c.(631-633)aAt>aGt p.N211S MTR_ENST00000418145.2_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.N211S NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 211 Hcy-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GCACTCCAAAATCTTTTTGAG 0.363000 17 50 0 0 0.624587 0 0 TOB1 10140 broad.mit.edu 37 17 48941096 48941096 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:48941096C>T ENST00000499247.2 - 2 716 c.283G>A c.(283-285)Gac>Aac p.D95N TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000268957.3_Missense_Mutation_p.D95N NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 95 negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TCAAATGGGTCGATCCAAACA 0.428000 OREG0024576 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 73 0 0 0.307466 0 0 CCDC88A 55704 broad.mit.edu 37 2 55522809 55522809 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:55522809C>G ENST00000436346.1 - 31 6316 c.5475G>C c.(5473-5475)ttG>ttC p.L1825F CCDC88A_ENST00000422883.2_Missense_Mutation_p.L326F|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L1797F|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L1824F|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L1750F NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1825 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TGTCCTTGGTCAAAAAATCAT 0.458000 43 147 0 0 0.870114 0 0 ESRP1 54845 broad.mit.edu 37 8 95655543 95655543 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr8:95655543G>A ENST00000433389.2 + 3 464 c.274G>A c.(274-276)Gtg>Atg p.V92M ESRP1_ENST00000423620.2_Missense_Mutation_p.V92M|ESRP1_ENST00000358397.5_Missense_Mutation_p.V92M|ESRP1_ENST00000454170.2_Missense_Mutation_p.V92M NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 92 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 TAACCAGTCAGTGAGCAATGA 0.453000 4 87 0 0 0.184627 0 0 CCDC33 80125 broad.mit.edu 37 15 74554886 74554886 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:74554886G>C ENST00000321288.5 + 5 900 c.900G>C c.(898-900)gaG>gaC p.E300D CCDC33_ENST00000398814.3_Missense_Mutation_p.E97D Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 300 C2. 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 TGAATGTGGAGATCCAAGCTG 0.572000 10 12 0 0 0.387290 0 0 SCGB2A1 4246 broad.mit.edu 37 11 61978051 61978051 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:61978051G>A ENST00000244930.4 + 2 286 c.222G>A c.(220-222)ctG>ctA p.L74L NM_002407.2 NP_002398.1 O75556 SG2A1_HUMAN secretoglobin, family 2A, member 1 74 extracellular region androgen binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 ATAGAACTCTGAAAAACTTTG 0.418000 15 41 0 0 0.520397 0 0 SLC34A2 10568 broad.mit.edu 37 4 25664188 25664188 + Silent SNP A A G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:25664188A>G ENST00000382051.3 + 2 116 c.66A>G c.(64-66)gcA>gcG p.A22A SLC34A2_ENST00000503434.1_Silent_p.A22A|SLC34A2_ENST00000504570.1_Silent_p.A22A NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 22 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) AAGGGGCCGCAGGTCAGCAGC 0.547000 T ROS1 NSCLC 3 102 0 0 0.184627 0 0 LIG3 3980 broad.mit.edu 37 17 33318055 33318055 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:33318055G>C ENST00000378526.4 + 5 1096 c.963G>C c.(961-963)ttG>ttC p.L321F LIG3_ENST00000262327.5_Missense_Mutation_p.L321F NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 321 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) TTTACAACTTGAACGATAAGC 0.488000 Other BER factors 35 66 0 0 0.827153 0 0 FAT4 79633 broad.mit.edu 37 4 126239473 126239473 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239473C>T ENST00000394329.3 + 1 1920 c.1907C>T c.(1906-1908)cCt>cTt p.P636L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 636 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CGTCTGGATCCTGTGTCTGGG 0.567000 21 34 0 0 0.608945 0 0 SESN1 27244 broad.mit.edu 37 6 109308772 109308772 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr6:109308772C>G ENST00000436639.2 - 10 2376 c.1631G>C c.(1630-1632)aGa>aCa p.R544T SESN1_ENST00000356644.7_Missense_Mutation_p.R485T|SESN1_ENST00000302071.2_Missense_Mutation_p.R419T NM_014454.2 NP_055269.1 Q9Y6P5 SESN1_HUMAN sestrin 1 485 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) GGTAATGGCTCTCAGAGCATA 0.398000 20 55 0 0 0.706142 0 0 FAT4 79633 broad.mit.edu 37 4 126239780 126239780 + Silent SNP C C A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126239780C>A ENST00000394329.3 + 1 2227 c.2214C>A c.(2212-2214)gtC>gtA p.V738V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 738 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGTTTCAGGTCAATGCTCAGA 0.453000 15 39 3.27435e-08 3.42569e-08 0.457914 1 0 DEPDC5 9681 broad.mit.edu 37 22 32242914 32242914 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr22:32242914C>T ENST00000400246.1 + 31 3258 c.3116C>T c.(3115-3117)tCa>tTa p.S1039L DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1030L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1039L|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S1030L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S961L|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1030L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S961L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1039L O75140 DEPD5_HUMAN DEP domain containing 5 1030 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AAGGGAACCTCAGCTCTCTCT 0.552000 14 68 0 0 0.500413 0 0 RBM10 8241 broad.mit.edu 37 X 47045491 47045491 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chrX:47045491G>A ENST00000377604.3 + 22 3200 c.2458G>A c.(2458-2460)Gaa>Aaa p.E820K RBM10_ENST00000345781.6_Missense_Mutation_p.E743K|RBM10_ENST00000329236.7_Missense_Mutation_p.E742K NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 820 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CCGTGCAGCTGAACGCAGAGA 0.552000 16 17 0 0 0.557998 0 0 ISY1-RAB43 100534599 broad.mit.edu 37 3 128853792 128853792 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:128853792G>A ENST00000418265.1 - 8 484 c.424C>T c.(424-426)Cct>Tct p.P142S ISY1_ENST00000393295.3_Missense_Mutation_p.P142S|ISY1_ENST00000273541.8_Missense_Mutation_p.P164S|ISY1_ENST00000393292.3_Missense_Mutation_p.P142S|ISY1_ENST00000471497.1_Intron NM_001204890.1 NP_001191819.1 Q9ULR0 ISY1_HUMAN 142 catalytic step 2 spliceosome CTGGGAGGAGGAAGAGCTATA 0.453000 14 30 0 0 0.500413 0 0 LVRN 206338 broad.mit.edu 37 5 115320284 115320284 + Missense_Mutation SNP G G T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:115320284G>T ENST00000357872.4 + 3 980 c.856G>T c.(856-858)Gat>Tat p.D286Y AQPEP_ENST00000395528.2_5'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 286 proteolysis integral to membrane metallopeptidase activity|zinc ion binding TGAAAAAGAAGATGTGAATGG 0.358000 4 18 0.217242 0.219001 0.217242 1 0 IGF1R 3480 broad.mit.edu 37 15 99452048 99452048 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:99452048G>A ENST00000268035.6 + 6 1993 c.1382G>A c.(1381-1383)cGc>cAc p.R461H IGF1R_ENST00000558762.1_Missense_Mutation_p.R461H NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 461 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GAAATTTACCGCATGGAGGAA 0.498000 3 25 0 0 0.184627 0 0 SLC38A10 124565 broad.mit.edu 37 17 79256117 79256117 + Missense_Mutation SNP G G A rs141053452 byFrequency TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:79256117G>A ENST00000374759.3 - 5 756 c.373C>T c.(373-375)Cgc>Tgc p.R125C SLC38A10_ENST00000288439.5_Missense_Mutation_p.R125C NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 125 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) AGGAACATGCGGAAGGTGCCG 0.682000 9 16 0 0 0.335167 0 0 USP8 9101 broad.mit.edu 37 15 50782585 50782585 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:50782585G>C ENST00000433963.1 + 15 2597 c.2097G>C c.(2095-2097)aaG>aaC p.K699N USP8_ENST00000396444.3_Missense_Mutation_p.K699N|USP8_ENST00000307179.4_Missense_Mutation_p.K699N|USP8_ENST00000425032.3_Missense_Mutation_p.K593N P40818 UBP8_HUMAN ubiquitin specific peptidase 8 699 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) ATAAAGCCAAGCCACAGATTC 0.498000 17 64 0 0 0.592651 0 0 IDH1 3417 broad.mit.edu 37 2 209104705 209104705 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:209104705C>T ENST00000415913.1 - 8 1254 c.873G>A c.(871-873)atG>atA p.M291I IDH1_ENST00000345146.2_Missense_Mutation_p.M291I|IDH1_ENST00000446179.1_Missense_Mutation_p.M291I NM_001282387.1 NP_001269316.1 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 291 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) GCACGCTGGTCATCATGCCGA 0.527000 Mis gliobastoma 15 60 0 0 0.557998 0 0 ATP6AP1L 92270 broad.mit.edu 37 5 81608660 81608660 + Missense_Mutation SNP T T C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr5:81608660T>C ENST00000380167.4 + 9 1687 c.362T>C c.(361-363)aTt>aCt p.I121T ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.I121T Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1-like 121 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 12 GTCACTTTTATTGATTTCCAG 0.502000 OREG0016689 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 38 0 0 0.411799 0 0 BRINP2 57795 broad.mit.edu 37 1 177245417 177245417 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:177245417G>A ENST00000361539.4 + 6 1171 c.859G>A c.(859-861)Gag>Aag p.E287K BRINP2_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 bone morphogenetic protein/retinoic acid inducible neural-specific 2 287 CTCTGAGGGTGAGCTCGTCTG 0.572000 18 54 0 0 0.592651 0 0 FAT4 79633 broad.mit.edu 37 4 126238820 126238820 + Silent SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126238820C>T ENST00000394329.3 + 1 1267 c.1254C>T c.(1252-1254)agC>agT p.S418S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 418 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CGAACCTGAGCCTAATCAAGG 0.597000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 27 0 0 0.411799 0 0 SORCS1 114815 broad.mit.edu 37 10 108338909 108338909 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr10:108338909G>C ENST00000344440.6 - 26 3471 c.3472C>G c.(3472-3474)Cag>Gag p.Q1158E SORCS1_ENST00000369698.1_Missense_Mutation_p.Q693E|SORCS1_ENST00000263054.6_Intron NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1 NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 0 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AGTTCAGTCTGAGGGACATTG 0.488000 33 38 0 0 0.769981 0 0 PLXNB1 5364 broad.mit.edu 37 3 48465275 48465275 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr3:48465275G>A ENST00000358536.4 - 3 1015 c.746C>T c.(745-747)tCt>tTt p.S249F PLXNB1_ENST00000358459.4_Missense_Mutation_p.S249F|PLXNB1_ENST00000456774.1_Missense_Mutation_p.S249F|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S249F|PLXNB1_ENST00000448774.2_Intron NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 249 Sema. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACACACTCGAGATACATAGGC 0.612000 36 74 0 0 0.827153 0 0 FBXO48 554251 broad.mit.edu 37 2 68692016 68692016 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr2:68692016G>C ENST00000377957.3 - 3 669 c.262C>G c.(262-264)Cga>Gga p.R88G NM_001024680.1 NP_001019851.1 Q5FWF7 FBX48_HUMAN F-box protein 48 endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 ATTTCTCTTCGGCACACAGCT 0.428000 23 140 0 0 0.706142 0 0 SLC22A10 387775 broad.mit.edu 37 11 63072221 63072221 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:63072221G>C ENST00000332793.6 + 9 1460 c.1458G>C c.(1456-1458)ttG>ttC p.L486F SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 486 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTCCCCTCTTGATGACCTTAA 0.408000 11 68 0 0 0.387290 0 0 FAT4 79633 broad.mit.edu 37 4 126240753 126240753 + Missense_Mutation SNP C C G TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr4:126240753C>G ENST00000394329.3 + 1 3200 c.3187C>G c.(3187-3189)Caa>Gaa p.Q1063E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1063 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCGTGAACTTCAAGACAGATA 0.373000 46 86 0 0 0.870114 0 0 DNAH17 8632 broad.mit.edu 37 17 76547693 76547693 + Missense_Mutation SNP C C T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:76547693C>T ENST00000389840.5 - 16 2439 c.2315G>A c.(2314-2316)cGa>cAa p.R772Q DNAH17_ENST00000585328.1_Missense_Mutation_p.R772Q 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) CAGAATTTCTCGCACCTCTTG 0.433000 7 76 0 0 0.335167 0 0 PDE3B 5140 broad.mit.edu 37 11 14839736 14839736 + Silent SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:14839736G>A ENST00000282096.4 + 6 1883 c.1530G>A c.(1528-1530)ttG>ttA p.L510L PDE3B_ENST00000455098.2_Silent_p.L459L NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 510 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 AAGGTGTTTTGTCCAGTCTGA 0.323000 3 11 0 0 0.115264 0 0 ASH1L 55870 broad.mit.edu 37 1 155449087 155449087 + Missense_Mutation SNP G G A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr1:155449087G>A ENST00000368346.3 - 3 4213 c.3574C>T c.(3574-3576)Cat>Tat p.H1192Y ASH1L_ENST00000392403.3_Missense_Mutation_p.H1192Y Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1192 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TCATCACTATGAGACTCACTG 0.443000 28 47 0 0 0.769981 0 0 C11orf63 79864 broad.mit.edu 37 11 122775122 122775123 + Frame_Shift_Ins INS - - A TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr11:122775122_122775123insA ENST00000227349.2 + 3 1131_1132 c.834_835insA c.(835-837)aaafs p.K279fs C11orf63_ENST00000307257.6_Frame_Shift_Ins_p.K279fs|C11orf63_ENST00000531316.1_Frame_Shift_Ins_p.K279fs NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 279 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) AACTTCACAATAAAAAAAGAGG 0.406 86 152 --- --- --- --- SOX1 6656 broad.mit.edu 37 13 112722081 112722083 + In_Frame_Del DEL GGC GGC - TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr13:112722081_112722083delGGC ENST00000330949.1 + 1 169_171 c.109_111delGGC c.(109-111)ggcdel p.G43del NM_005986.2 NP_005977.2 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 43 Poly-Gly. chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4) 4 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) cggaggcgggggcggcggcggcg 0.778 5 10 --- --- --- --- UACA 55075 broad.mit.edu 37 15 70979935 70979935 + Frame_Shift_Del DEL T T - rs147378902 TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr15:70979935delT ENST00000322954.6 - 7 731 c.546delA c.(544-546)atafs p.I182fs UACA_ENST00000560441.1_Frame_Shift_Del_p.I169fs|UACA_ENST00000379983.2_Frame_Shift_Del_p.I169fs|UACA_ENST00000539319.1_Intron NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 182 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 GCAGTTGACATATTGTTGGCC 0.428 21 96 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226895 88226897 + RNA DEL TGG TGG - rs62047004 TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr16:88226895_88226897delTGG ENST00000568587.1 - 0 91 gtggtggagatggtggtggtggg 0.537 5 7 --- --- --- --- GGA3 23163 broad.mit.edu 37 17 73239175 73239175 + Frame_Shift_Del DEL T T - TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr17:73239175delT ENST00000245541.6 - 6 713 c.497delA c.(496-498)aacfs p.N166fs GGA3_ENST00000537686.1_Intron|GGA3_ENST00000538886.1_Frame_Shift_Del_p.N44fs|GGA3_ENST00000582717.1_Frame_Shift_Del_p.N94fs|GGA3_ENST00000578348.1_Frame_Shift_Del_p.N44fs|GGA3_ENST00000582486.1_Frame_Shift_Del_p.N94fs|GGA3_ENST00000351904.7_Frame_Shift_Del_p.N133fs NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 166 Binds to ARF1 (in long isoform). intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) AAAAACAGGGTTTTTGGGACG 0.542 7 303 --- --- --- --- HCN2 610 broad.mit.edu 37 19 616296 616296 + Frame_Shift_Del DEL C C - TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:616296delC ENST00000251287.2 + 8 2545 c.2492delC c.(2491-2493)gccfs p.A831fs AC005559.2_ENST00000591847.1_RNA NM_001194.3 NP_001185.3 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 2 831 Pro-rich. cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCTCAcggcgcccccggcccc 0.841 2 4 --- --- --- --- CTC-513N18.7 0 broad.mit.edu 37 19 20799471 20799471 + RNA DEL C C - TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d079a32c-270b-4c43-8372-884e8d0c48ed 364bca7a-3890-45cb-a284-d681100ea5e0 g.chr19:20799471delC ENST00000595094.1 - 0 363 ttggcaagcacccccggtctt 0.453 2 4 --- --- --- ---