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 GNAS 2778 broad.mit.edu 37 20 57415491 57415491 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:57415491G>A ENST00000313949.7 + 1 719 c.330G>A c.(328-330)gaG>gaA p.E110E GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Silent_p.E110E|GNAS_ENST00000371075.3_Silent_p.E110E|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA P63092 GNAS2_HUMAN GNAS complex locus 123 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TCGACTACGAGACCGAGAGCG 0.622000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 11 80 0 0 0.001855 0 0 C1orf173 127254 broad.mit.edu 37 1 75107038 75107038 + Nonsense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:75107038C>A ENST00000326665.5 - 5 639 c.421G>T c.(421-423)Gga>Tga p.G141* NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 141 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTGGAATGTCCTTCATCAACC 0.423000 18 66 8.00594e-06 8.56389e-06 0.007413 1 0 NBEAL1 65065 broad.mit.edu 37 2 204000719 204000719 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:204000719C>G ENST00000449802.1 + 27 4379 c.4046C>G c.(4045-4047)tCt>tGt p.S1349C NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1349 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GAAGATAGCTCTGTGGGAGAA 0.408000 18 73 0 0 0.004990 0 0 H1F0 3005 broad.mit.edu 37 22 38201558 38201558 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:38201558G>C ENST00000340857.2 + 1 445 c.7G>C c.(7-9)Gag>Cag p.E3Q NM_005318.3 NP_005309.1 P07305 H10_HUMAN H1 histone family, member 0 3 DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome DNA binding cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1) 7 Melanoma(58;0.045) CACCATGACCGAGAATTCCAC 0.627000 8 33 0 0 0.003080 0 0 EPX 8288 broad.mit.edu 37 17 56277623 56277623 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:56277623C>T ENST00000225371.5 + 10 1685 c.1575C>T c.(1573-1575)acC>acT p.T525T NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 525 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 TCATGGCCACCCCTGCCAAGC 0.612000 OREG0024608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 55 0 0 0.014410 0 0 FHOD1 29109 broad.mit.edu 37 16 67281227 67281227 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:67281227G>C ENST00000258201.4 - 1 334 c.87C>G c.(85-87)ttC>ttG p.F29L FHOD1_ENST00000567687.1_Missense_Mutation_p.F29L NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 29 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) TGGCACATGCGAAGGGGTCGG 0.721000 15 18 0 0 0.004990 0 0 PEG3 5178 broad.mit.edu 37 19 57334186 57334186 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:57334186C>A ENST00000326441.9 - 6 863 c.500G>T c.(499-501)cGg>cTg p.R167L ZIM2_ENST00000593931.1_Missense_Mutation_p.R42L|ZIM2_ENST00000391708.3_Missense_Mutation_p.R42L|ZIM2_ENST00000593711.1_Missense_Mutation_p.R42L|ZIM2_ENST00000601070.1_Missense_Mutation_p.R42L|PEG3_ENST00000593695.1_Missense_Mutation_p.R41L|PEG3_ENST00000423103.2_Missense_Mutation_p.R167L|ZIM2_ENST00000599935.1_Missense_Mutation_p.R42L|ZIM2_ENST00000221722.5_Missense_Mutation_p.R42L|PEG3_ENST00000598410.1_Missense_Mutation_p.R42L NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 167 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCTGCCCCTCCGGTCCCAGTC 0.542000 7 10 8.12818e-05 8.55598e-05 0.001984 1 0 ARHGDIB 397 broad.mit.edu 37 12 15095518 15095518 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:15095518C>T ENST00000228945.4 - 6 688 c.544G>A c.(544-546)Gac>Aac p.D182N ARHGDIB_ENST00000541546.1_Missense_Mutation_p.D182N|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.D182N|ARHGDIB_ENST00000539131.1_5'UTR NM_001175.4 NP_001166.3 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 182 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 15 TCTTGCTTGTCATCGTCGGTG 0.562000 20 115 0 0 0.012319 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735853 55735853 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:55735853G>T ENST00000312345.2 - 1 137 c.87C>A c.(85-87)atC>atA p.I29I NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) TGCACATCAGGATCATCAAAT 0.333000 30 34 2.12542e-12 2.4524e-12 0.006320 1 0 ILF2 3608 broad.mit.edu 37 1 153642698 153642698 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:153642698C>G ENST00000361891.4 - 2 139 c.14G>C c.(13-15)aGa>aCa p.R5T ILF2_ENST00000368681.1_Missense_Mutation_p.R5T NM_001267809.1|NM_004515.3 NP_001254738.1|NP_004506.2 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 5 immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) ACCACGGCCTCTGTCACCCCT 0.512000 17 167 0 0 0.010504 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42434260 42434260 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:42434260C>T ENST00000397272.3 - 20 2569 c.2478G>A c.(2476-2478)ctG>ctA p.L826L PLA2G4F_ENST00000382396.4_Silent_p.L824L NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 824 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CCACGTTGTTCAGGACGTTGT 0.597000 12 36 0 0 0.013537 0 0 GOLGA4 2803 broad.mit.edu 37 3 37367527 37367527 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:37367527C>T ENST00000361924.2 + 14 4524 c.4150C>T c.(4150-4152)Caa>Taa p.Q1384* GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.Q1406* NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1384 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TGTTCAGCTTCAAAATAGCAT 0.343000 9 28 0 0 0.004482 0 0 PATE1 160065 broad.mit.edu 37 11 125618573 125618573 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:125618573A>G ENST00000305738.5 + 5 338 c.326A>G c.(325-327)tAt>tGt p.Y109C PATE1_ENST00000437148.2_Missense_Mutation_p.Y97C NM_138294.2 NP_612151.1 Q8WXA2 PATE1_HUMAN prostate and testis expressed 1 109 extracellular region large_intestine(1)|lung(5) 6 TGGAGTGTCTATTTGGTGAAC 0.468000 28 35 0 0 0.008361 0 0 EFS 10278 broad.mit.edu 37 14 23828666 23828666 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:23828666G>T ENST00000216733.3 - 4 1628 c.1021C>A c.(1021-1023)Cca>Aca p.P341T EFS_ENST00000429593.2_Missense_Mutation_p.P172T|EFS_ENST00000351354.3_Missense_Mutation_p.P248T NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 341 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) AGGCGGGGTGGGGGTGGGGGC 0.701000 35 20 6.05902e-23 7.47468e-23 0.003755 1 0 ATF4P4 100127952 broad.mit.edu 37 11 113659993 113659993 + RNA SNP A A C rs906846 by1000genomes TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:113659993A>C ENST00000393544.2 + 0 41 GGCAGCATGTAGGTTGCAGGG 0.657000 3 37 0 0 0.004672 0 0 C11orf16 56673 broad.mit.edu 37 11 8943023 8943023 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:8943023T>C ENST00000326053.5 - 6 1350 c.1244A>G c.(1243-1245)cAc>cGc p.H415R C11orf16_ENST00000525780.1_Intron NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 415 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) CTGCTGTTTGTGATCCTTTTC 0.468000 49 75 0 0 0.014410 0 0 SEPT9 10801 broad.mit.edu 37 17 75478401 75478401 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:75478401C>G ENST00000329047.8 + 3 1655 c.843C>G c.(841-843)ttC>ttG p.F281L SEPT9_ENST00000592420.1_Missense_Mutation_p.F108L|SEPT9_ENST00000431235.2_Missense_Mutation_p.F135L|SEPT9_ENST00000427674.2_Missense_Mutation_p.F135L|SEPT9_ENST00000585930.1_Missense_Mutation_p.F75L|SEPT9_ENST00000541152.2_Missense_Mutation_p.F48L|SEPT9_ENST00000449803.2_Missense_Mutation_p.F135L|SEPT9_ENST00000427180.1_Missense_Mutation_p.F187L|SEPT9_ENST00000591088.1_Missense_Mutation_p.F48L|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.F299L|SEPT9_ENST00000591198.1_Missense_Mutation_p.F280L|SEPT9_ENST00000423034.2_Missense_Mutation_p.F292L|SEPT9_ENST00000590917.1_Missense_Mutation_p.F48L|SEPT9_ENST00000590294.1_Missense_Mutation_p.F281L|SEPT9_ENST00000592951.1_Missense_Mutation_p.F48L|SEPT9_ENST00000588690.1_Missense_Mutation_p.F135L NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 299 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) GCTTCGAGTTCAACATCATGG 0.612000 5 48 0 0 0.001168 0 0 FGR 2268 broad.mit.edu 37 1 27942117 27942117 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:27942117C>T ENST00000374005.3 - 9 1134 c.846G>A c.(844-846)tgG>tgA p.W282* FGR_ENST00000374004.1_Nonsense_Mutation_p.W282*|FGR_ENST00000399173.1_Nonsense_Mutation_p.W282*|FGR_ENST00000545953.1_Nonsense_Mutation_p.W216* NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 282 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TGCTGCCGTTCCACGTGCCTG 0.687000 5 21 0 0 0.001168 0 0 NCKAP1 10787 broad.mit.edu 37 2 183791550 183791550 + Silent SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:183791550T>C ENST00000360982.2 - 31 4040 c.3282A>G c.(3280-3282)ctA>ctG p.L1094L NCKAP1_ENST00000361354.3_Silent_p.L1088L NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 1088 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) TTACCATATCTAGCAGTAAAT 0.318000 20 38 0 0 0.010504 0 0 FAM166B 730112 broad.mit.edu 37 9 35563186 35563186 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:35563186G>C ENST00000399742.2 - 2 333 c.263C>G c.(262-264)tCc>tGc p.S88C FAM166B_ENST00000492890.1_5'UTR NM_001099951.2|NM_001164310.1 NP_001093421.1|NP_001157782.1 A8MTA8 F166B_HUMAN family with sequence similarity 166, member B 88 kidney(3)|large_intestine(1)|lung(4)|ovary(1) 9 GATCATGCTGGAGCTGAGCCT 0.577000 17 96 0 0 0.004007 0 0 COL4A5 1287 broad.mit.edu 37 X 107909764 107909764 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:107909764G>A ENST00000328300.6 + 39 3737 c.3493G>A c.(3493-3495)Gaa>Aaa p.E1165K COL4A5_ENST00000361603.2_Missense_Mutation_p.E1165K NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1165 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GCCTCCAGGCGAAAAAGGCAA 0.458000 Alport syndrome with Diffuse Leiomyomatosis 3 18 0 0 0.009096 0 0 DMBT1 1755 broad.mit.edu 37 10 124348479 124348479 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:124348479C>G ENST00000338354.3 + 17 1909 c.1803C>G c.(1801-1803)gcC>gcG p.A601A DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Silent_p.A591A|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Silent_p.A601A|DMBT1_ENST00000344338.3_Silent_p.A591A Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 601 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCAGTTTGGCCCTGAGGCTGG 0.542000 62 227 0 0 0.014410 0 0 ZNF709 163051 broad.mit.edu 37 19 12575365 12575365 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:12575365G>A ENST00000397732.3 - 4 1542 c.1371C>T c.(1369-1371)ttC>ttT p.F457F ZNF709_ENST00000428311.1_Silent_p.F457F|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TGGAACAACTGAAGGCTTTAC 0.398000 25 86 0 0 0.007291 0 0 JARID2 3720 broad.mit.edu 37 6 15517468 15517468 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:15517468G>A ENST00000341776.2 + 17 3771 c.3527G>A c.(3526-3528)cGa>cAa p.R1176Q JARID2_ENST00000397311.3_Missense_Mutation_p.R1004Q NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 1176 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding p.R1176Q(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AAGTCCTGCCGAGGGCTGAAG 0.617000 20 103 0 0 0.012319 0 0 PPOX 5498 broad.mit.edu 37 1 161140875 161140875 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:161140875G>C ENST00000367999.4 + 13 1609 c.1343G>C c.(1342-1344)gGa>gCa p.G448A PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Missense_Mutation_p.G156A|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.G448A|PPOX_ENST00000535223.1_Intron NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 448 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) ACTCTGGCTGGAGCCTCCTAT 0.532000 11 258 0 0 0.010729 0 0 ASB5 140458 broad.mit.edu 37 4 177142365 177142365 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:177142365G>A ENST00000296525.3 - 5 724 c.611C>T c.(610-612)cCt>cTt p.P204L ASB5_ENST00000512254.1_Missense_Mutation_p.P151L NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 204 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TACATAGAGAGGAGTTCCCAA 0.413000 18 19 0 0 0.007413 0 0 RGS20 8601 broad.mit.edu 37 8 54859233 54859233 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:54859233T>A ENST00000297313.3 + 4 760 c.668T>A c.(667-669)gTt>gAt p.V223D RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000344277.6_Missense_Mutation_p.V108D|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000276500.4_Missense_Mutation_p.V76D NM_170587.2 NP_733466.1 O76081 RGS20_HUMAN regulator of G-protein signaling 20 223 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) AGTCTCACTGTTAGAAACCAG 0.408000 7 66 0 0 0.003080 0 0 SRGAP2 23380 broad.mit.edu 37 1 206628307 206628307 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:206628307G>A ENST00000414007.1 + 17 2024 c.2024G>A c.(2023-2025)aGa>aAa p.R675K SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Missense_Mutation_p.R120K O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 815 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) GTGACAGCCAGAGCGGGGGCC 0.537000 19 93 0 0 0.007413 0 0 ABCA6 23460 broad.mit.edu 37 17 67129836 67129836 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:67129836C>G ENST00000284425.2 - 6 911 c.737G>C c.(736-738)aGa>aCa p.R246T NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 246 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) AGACTTTTTTCTCTCTTTTGT 0.294000 7 76 0 0 0.003080 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826426 43826426 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:43826426C>T ENST00000389420.3 - 20 2908 c.2909G>A c.(2908-2910)tGg>tAg p.W970* ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.W124*|ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.W970* NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 970 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TGAATAATGCCATCTTGTGAA 0.373000 16 21 0 0 0.004990 0 0 CUL5 8065 broad.mit.edu 37 11 107965677 107965677 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:107965677G>T ENST00000393094.2 + 15 2322 c.1706G>T c.(1705-1707)aGa>aTa p.R569I NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 569 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) CATAGTGGTAGAAAATTACAT 0.373000 6 66 1.06961e-07 1.16878e-07 0.003080 1 0 HIST1H2BF 8343 broad.mit.edu 37 6 26199818 26199818 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:26199818C>T ENST00000359985.1 + 1 71 c.32C>T c.(31-33)cCa>cTa p.P11L NM_003522.3 NP_003513.1 P62807 H2B1C_HUMAN histone cluster 1, H2bf 11 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3) 17 all_hematologic(11;0.196) GCTCCTGCTCCAAAAAAGGGC 0.488000 44 85 0 0 0.009718 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 18 1.12685e-05 1.20343e-05 0.004482 1 0 RERGL 79785 broad.mit.edu 37 12 18234245 18234245 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:18234245G>A ENST00000229002.2 - 6 704 c.498C>T c.(496-498)atC>atT p.I166I RERGL_ENST00000538724.1_Silent_p.I165I NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 166 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 TGATAATTCTGATAAACATCA 0.418000 11 60 0 0 0.010729 0 0 SF3A1 10291 broad.mit.edu 37 22 30740986 30740986 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:30740986T>C ENST00000439242.1 - 4 523 c.392A>G c.(391-393)gAc>gGc p.D131G SF3A1_ENST00000215793.7_Missense_Mutation_p.D196G NM_001005409.1 NP_001005409.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 151 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCGGAGAAAGTCAAACTGGTA 0.572000 59 61 0 0 0.014410 0 0 CCNF 899 broad.mit.edu 37 16 2481210 2481210 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:2481210C>G ENST00000397066.4 + 2 184 c.96C>G c.(94-96)atC>atG p.I32M NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 32 F-box. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) ACCTGACCATCTTGAGTCTCC 0.478000 11 81 0 0 0.010729 0 0 CHCHD1 118487 broad.mit.edu 37 10 75542100 75542100 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:75542100G>C ENST00000372837.3 + 2 173 c.144G>C c.(142-144)gaG>gaC p.E48D CHCHD1_ENST00000372833.5_Missense_Mutation_p.E48D Q96BP2 CHCH1_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 1 48 CHCH. nucleus breast(1) 1 Prostate(51;0.0112) GCATCACGGAGATGTCGGTGA 0.602000 16 41 0 0 0.004007 0 0 PTPRO 5800 broad.mit.edu 37 12 15637110 15637110 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:15637110A>T ENST00000281171.4 + 2 608 c.278A>T c.(277-279)tAt>tTt p.Y93F PTPRO_ENST00000543886.1_Missense_Mutation_p.Y93F|PTPRO_ENST00000348962.2_Missense_Mutation_p.Y93F NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 93 Fibronectin type-III 1. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GGCCTTTATTATATAATCACT 0.373000 9 39 0 0 0.006214 0 0 SLIT2 9353 broad.mit.edu 37 4 20533668 20533668 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:20533668C>T ENST00000504154.1 + 17 1927 c.1675C>T c.(1675-1677)Caa>Taa p.Q559* SLIT2_ENST00000503823.1_Nonsense_Mutation_p.Q551*|SLIT2_ENST00000503837.1_Nonsense_Mutation_p.Q555*|SLIT2_ENST00000273739.5_Nonsense_Mutation_p.Q563* NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 559 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GAAACTTCCTCAATTACGTAA 0.294000 7 14 0 0 0.003080 0 0 KCNK7 10089 broad.mit.edu 37 11 65360568 65360568 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:65360568C>T ENST00000340313.4 - 3 1055 c.832G>A c.(832-834)Gag>Aag p.E278K KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR NM_033347.1 NP_203133.1 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 278 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|liver(1)|lung(1) 3 CCTTGGTCCTCAGCAGTCACA 0.627000 4 20 0 0 0.009096 0 0 STAP2 55620 broad.mit.edu 37 19 4325283 4325283 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:4325283G>A ENST00000600324.1 - 11 1069 c.1002C>T c.(1000-1002)gtC>gtT p.V334V STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000594605.1_Silent_p.V334V NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 334 Pro-rich. cytoplasm|nucleus protein binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTCAGGATGACTGGCCAAC 0.562000 8 8 0 0 0.003080 0 0 P2RX5-TAX1BP3 100533970 broad.mit.edu 37 17 3592883 3592883 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:3592883G>A ENST00000550383.1 - 7 844 c.656C>T c.(655-657)tCa>tTa p.S219L P2RX5_ENST00000552276.1_Missense_Mutation_p.S218L|P2RX5_ENST00000552050.1_Missense_Mutation_p.S159L|P2RX5_ENST00000225328.5_Missense_Mutation_p.S219L|P2RX5_ENST00000551178.1_Missense_Mutation_p.S194L|P2RX5_ENST00000550772.1_Intron|P2RX5_ENST00000547178.1_Missense_Mutation_p.S218L|P2RX5_ENST00000435558.1_Missense_Mutation_p.S219L|P2RX5_ENST00000345901.3_Missense_Mutation_p.S195L AAAGTGGCATGATTTCAGGAA 0.567000 22 86 0 0 0.005443 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47241632 47241632 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:47241632G>A ENST00000300404.2 + 8 1188 c.1129G>A c.(1129-1131)Ggg>Agg p.G377R B4GALNT2_ENST00000393354.2_Missense_Mutation_p.G317R|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.G291R NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 377 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) TATGCCCTTTGGGAAGGTATG 0.532000 21 143 0 0 0.014323 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50453287 50453287 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:50453287C>T ENST00000447370.2 - 11 2127 c.2037G>A c.(2035-2037)ctG>ctA p.L679L SIGLEC11_ENST00000426971.2_Silent_p.L583L|CTC-326K19.6_ENST00000451973.1_Intron NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 679 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CTGGGCCCCTCAGGGGCTGTC 0.612000 6 19 0 0 0.001168 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559035 129559035 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:129559035G>A ENST00000422113.2 - 9 3011 c.2685C>T c.(2683-2685)ccC>ccT p.P895P TMEM132D_ENST00000389441.4_Silent_p.P433P NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 895 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CATTGCTTCTGGGGAGGTCCA 0.517000 17 62 0 0 0.007413 0 0 SLC4A2 6522 broad.mit.edu 37 7 150764008 150764008 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:150764008G>C ENST00000485713.1 + 7 1934 c.894G>C c.(892-894)caG>caC p.Q298H SLC4A2_ENST00000310317.5_Missense_Mutation_p.Q216H|SLC4A2_ENST00000392826.2_Missense_Mutation_p.Q289H|SLC4A2_ENST00000461735.1_Missense_Mutation_p.Q284H|SLC4A2_ENST00000413384.2_Missense_Mutation_p.Q298H NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 298 Pro-rich. bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTTCCACACAGAGTGGCCGAG 0.657000 12 26 0 0 0.001855 0 0 CLEC17A 388512 broad.mit.edu 37 19 14707757 14707757 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:14707757A>G ENST00000547437.1 + 9 592 c.515A>G c.(514-516)tAc>tGc p.Y172C CLEC17A_ENST00000417570.1_Missense_Mutation_p.Y172C|CLEC17A_ENST00000397439.2_Missense_Mutation_p.Y155C NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A 172 cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity TGGATGGTGTACCTGTGTCTG 0.587000 4 10 0 0 0.009096 0 0 SYN2 6854 broad.mit.edu 37 3 12046037 12046037 + RNA SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:12046037C>T ENST00000432424.2 + 0 158 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 TGATGAACTTCCTGCGGCGCC 0.687000 6 8 0 0 0.003080 0 0 PKDREJ 10343 broad.mit.edu 37 22 46655967 46655967 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:46655967G>A ENST00000253255.5 - 1 3252 c.3253C>T c.(3253-3255)Cgt>Tgt p.R1085C NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1085 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity p.R1085C(1) NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATGACAAAACGAGGTGCCTGC 0.502000 8 31 0 0 0.003080 0 0 CCDC141 285025 broad.mit.edu 37 2 179718348 179718348 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:179718348G>C ENST00000420890.2 - 20 3181 c.3064C>G c.(3064-3066)Cat>Gat p.H1022D CCDC141_ENST00000295723.5_Missense_Mutation_p.H447D NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 447 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TACCAAAAATGACACTAAATT 0.358000 17 55 0 0 0.006122 0 0 PLIN1 5346 broad.mit.edu 37 15 90213226 90213226 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:90213226C>G ENST00000300055.5 - 5 748 c.583G>C c.(583-585)Gac>Cac p.D195H PLIN1_ENST00000430628.2_Missense_Mutation_p.D195H NM_002666.4 NP_002657.3 O60240 PLIN1_HUMAN perilipin 1 195 triglyceride catabolic process lipid particle lipid binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2) 13 TCTTCCTTGTCTGGAGGGAGG 0.602000 8 12 0 0 0.003080 0 0 FSHR 2492 broad.mit.edu 37 2 49190117 49190117 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:49190117G>A ENST00000406846.2 - 10 1962 c.1843C>T c.(1843-1845)Cac>Tac p.H615Y FSHR_ENST00000304421.4_Missense_Mutation_p.H589Y|FSHR_ENST00000541117.1_Missense_Mutation_p.H351Y|FSHR_ENST00000346173.3_Missense_Mutation_p.H553Y NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 615 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TTGATGGGGTGAAACAGAACC 0.483000 Gonadal Dysgenesis, 46 XX 8 59 0 0 0.006214 0 0 TRPS1 7227 broad.mit.edu 37 8 116632009 116632009 + Missense_Mutation SNP T T G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:116632009T>G ENST00000395715.3 - 3 893 c.316A>C c.(316-318)Aag>Cag p.K106Q TRPS1_ENST00000519674.1_Missense_Mutation_p.K93Q|TRPS1_ENST00000220888.5_Missense_Mutation_p.K93Q|TRPS1_ENST00000520276.1_Missense_Mutation_p.K97Q|TRPS1_ENST00000519076.1_Intron NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 93 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTTCCTCCCTTACTGGGGCTT 0.473000 Langer-Giedion syndrome 11 75 0 0 0.010729 0 0 MCFD2 90411 broad.mit.edu 37 2 47136169 47136169 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:47136169C>G ENST00000409105.1 - 3 321 c.142G>C c.(142-144)Gac>Cac p.D48H MCFD2_ENST00000409800.1_Intron|MCFD2_ENST00000409973.1_Missense_Mutation_p.D48H|MCFD2_ENST00000409207.1_Missense_Mutation_p.D48H|MCFD2_ENST00000409218.1_Missense_Mutation_p.D48H|MCFD2_ENST00000444761.2_Intron|MCFD2_ENST00000409913.1_Intron|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000409147.1_Intron|MCFD2_ENST00000319466.4_Missense_Mutation_p.D48H NM_001171506.2 NP_001164977.1 Q8NI22 MCFD2_HUMAN multiple coagulation factor deficiency 2 48 post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus calcium ion binding central_nervous_system(1)|large_intestine(1)|lung(2) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) Antihemophilic Factor(DB00025) TACTCTTGGTCGTGCACTGTG 0.622000 16 78 0 0 0.008871 0 0 PSG2 5670 broad.mit.edu 37 19 43579684 43579684 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:43579684G>T ENST00000406487.1 - 3 629 c.531C>A c.(529-531)agC>agA p.S177R NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 177 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) ACCACTGGTAGCTTGTGTCCG 0.502000 59 224 7.41606e-26 9.25255e-26 0.014410 1 0 KIF21B 23046 broad.mit.edu 37 1 200965360 200965360 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:200965360C>T ENST00000332129.2 - 15 2557 c.2241G>A c.(2239-2241)aaG>aaA p.K747K KIF21B_ENST00000422435.2_Silent_p.K747K|KIF21B_ENST00000461742.2_Silent_p.K747K|KIF21B_ENST00000360529.5_Silent_p.K747K NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 747 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CGGCCTGTAGCTTCTTCAGCT 0.607000 16 269 0 0 0.007413 0 0 MUC15 143662 broad.mit.edu 37 11 26582638 26582638 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:26582638T>A ENST00000436318.2 - 4 1193 c.1060A>T c.(1060-1062)Ata>Tta p.I354L ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.I304L|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.I354L|ANO3_ENST00000529242.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.I327L|MUC15_ENST00000527569.1_Missense_Mutation_p.I304L Q8N387 MUC15_HUMAN mucin 15, cell surface associated 327 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 AGTGGAGGTATGTCATCCATA 0.388000 16 55 0 0 0.010504 0 0 SLC12A1 6557 broad.mit.edu 37 15 48551426 48551426 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:48551426C>A ENST00000396577.3 + 17 2287 c.2072C>A c.(2071-2073)cCc>cAc p.P691H SLC12A1_ENST00000380993.3_Missense_Mutation_p.P691H|SLC12A1_ENST00000558405.1_Missense_Mutation_p.P691H NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 691 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) ACAGGGGGACCCATGACAAGA 0.493000 22 83 4.26978e-12 4.89245e-12 0.003330 1 0 UGT2B28 54490 broad.mit.edu 37 4 70156375 70156375 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:70156375C>A ENST00000335568.5 + 5 1158 c.1156C>A c.(1156-1158)Cat>Aat p.H386N UGT2B28_ENST00000511240.1_Intron NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 386 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GGCAATCTACCATGGGATCCC 0.428000 39 442 8.16904e-11 9.23214e-11 0.007835 1 0 ANKFN1 162282 broad.mit.edu 37 17 54534307 54534307 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:54534307G>A ENST00000566473.2 + 11 1302 c.1302G>A c.(1300-1302)gtG>gtA p.V434V ANKFN1_ENST00000318698.2_Silent_p.V434V Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 434 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 ACAAGTTTGTGAAGACCTTAA 0.383000 4 48 0 0 0.001168 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1881965 1881965 + Splice_Site SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:1881965G>C ENST00000518288.1 + 27 3314 c.e27-1 ARHGEF10_ENST00000398564.1_Splice_Site|ARHGEF10_ENST00000520359.1_Splice_Site|ARHGEF10_ENST00000349830.3_Splice_Site|ARHGEF10_ENST00000262112.6_Splice_Site O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TTTCTTTTAAGATGGATCCTG 0.418000 21 73 0 0 0.003330 0 0 PRRC2C 23215 broad.mit.edu 37 1 171544252 171544252 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:171544252A>G ENST00000367742.3 + 25 7182 c.6940A>G c.(6940-6942)Aca>Gca p.T2314A PRRC2C_ENST00000392078.3_Missense_Mutation_p.T2314A|PRRC2C_ENST00000426496.2_Missense_Mutation_p.T2247A|PRRC2C_ENST00000338920.4_Missense_Mutation_p.T2312A Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 2312 protein C-terminus binding AGTCACTCCTACAGCATCACT 0.388000 3 34 0 0 0.009096 0 0 OR10X1 128367 broad.mit.edu 37 1 158548974 158548974 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:158548974G>T ENST00000368150.1 - 1 715 c.716C>A c.(715-717)tCt>tAt p.S239Y NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) GAGGACAGTAGAAATAATGAA 0.468000 71 60 1.48005e-37 1.88942e-37 0.014410 1 0 FHOD3 80206 broad.mit.edu 37 18 34273246 34273246 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:34273246G>C ENST00000257209.4 + 14 1693 c.1571G>C c.(1570-1572)aGa>aCa p.R524T FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000445677.1_Missense_Mutation_p.R486T|FHOD3_ENST00000590592.1_Missense_Mutation_p.R699T|FHOD3_ENST00000359247.4_Missense_Mutation_p.R507T NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 507 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AGCCGGGGCAGAGCCGACCTC 0.567000 4 23 0 0 0.000602 0 0 ZHX3 23051 broad.mit.edu 37 20 39832861 39832861 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:39832861G>A ENST00000309060.3 - 4 1111 c.696C>T c.(694-696)ttC>ttT p.F232F ZHX3_ENST00000432768.2_Silent_p.F232F|ZHX3_ENST00000560361.1_Silent_p.F232F|ZHX3_ENST00000544979.2_Silent_p.F232F|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000540170.1_Silent_p.F232F|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Silent_p.F232F Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 232 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) CCCCATTGATGAAGGAATGGT 0.557000 17 93 0 0 0.004990 0 0 COL9A1 1297 broad.mit.edu 37 6 70964208 70964208 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:70964208G>A ENST00000357250.6 - 25 1848 c.1690C>T c.(1690-1692)Cct>Tct p.P564S COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.P321S|COL9A1_ENST00000320755.7_Missense_Mutation_p.P321S NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 564 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GCATCACCAGGAGGCCCAGGT 0.388000 17 67 0 0 0.010504 0 0 EFCAB7 84455 broad.mit.edu 37 1 64021097 64021097 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:64021097G>A ENST00000371088.4 + 9 1371 c.1125G>A c.(1123-1125)agG>agA p.R375R EFCAB7_ENST00000461039.1_3'UTR NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 375 R -> K (in dbSNP:rs2273367). calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 CTGGCTGTAGGCTGAGGAAAA 0.353000 23 71 0 0 0.003330 0 0 ALKBH1 8846 broad.mit.edu 37 14 78161119 78161119 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:78161119C>G ENST00000216489.3 - 3 432 c.417G>C c.(415-417)gaG>gaC p.E139D ALKBH1_ENST00000554097.1_5'UTR NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 139 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) GATCTTGGGTCTCTTCTTTAG 0.428000 38 165 0 0 0.007835 0 0 KRT80 144501 broad.mit.edu 37 12 52574327 52574327 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:52574327G>A ENST00000313234.5 - 4 733 c.636C>T c.(634-636)ttC>ttT p.F212F KRT80_ENST00000394815.2_Silent_p.F212F NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 212 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) TCAACTCCACGAAGCTCTCCA 0.547000 26 105 0 0 0.004656 0 0 DHX9 1660 broad.mit.edu 37 1 182850485 182850485 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:182850485A>T ENST00000367549.3 + 23 2821 c.2711A>T c.(2710-2712)cAt>cTt p.H904L DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 904 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GGCTATATCCATCGAAATTTT 0.448000 8 163 0 0 0.004482 0 0 DDX41 51428 broad.mit.edu 37 5 176939118 176939118 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:176939118C>G ENST00000507955.1 - 16 2234 c.1711G>C c.(1711-1713)Gag>Cag p.E571Q NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 571 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) AGCATGGACTCATCCCCGCAA 0.617000 19 97 0 0 0.012319 0 0 PPP4R1 9989 broad.mit.edu 37 18 9570248 9570248 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:9570248G>A ENST00000400556.3 - 11 1553 c.1480C>T c.(1480-1482)Ccc>Tcc p.P494S PPP4R1_ENST00000400555.3_Missense_Mutation_p.P477S NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 494 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 GGAGAACTGGGCACAGGGCCC 0.478000 25 41 0 0 0.002780 0 0 TASP1 55617 broad.mit.edu 37 20 13550200 13550200 + Silent SNP T T G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:13550200T>G ENST00000337743.4 - 7 642 c.522A>C c.(520-522)gcA>gcC p.A174A TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR NM_017714.2 NP_060184.2 Q9H6P5 TASP1_HUMAN taspase, threonine aspartase, 1 174 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2) 31 CATGATCTACTGCCCATCTGT 0.323000 16 53 0 0 0.010504 0 0 GRM1 2911 broad.mit.edu 37 6 146755353 146755353 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:146755353C>A ENST00000361719.2 + 9 3476 c.3006C>A c.(3004-3006)ctC>ctA p.L1002L GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Silent_p.L1002L|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1002 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AGACCCCCCTCTTCCTGGCCG 0.687000 50 79 3.19069e-20 3.86395e-20 0.014410 1 0 NRXN1 9378 broad.mit.edu 37 2 50574003 50574003 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:50574003C>A ENST00000342183.5 - 1 889 c.85G>T c.(85-87)Ggg>Tgg p.G29W NRXN1_ENST00000406316.2_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000405472.3_Intron NM_138735.2 NP_620072.1 Q9ULB1 NRX1A_HUMAN neurexin 1 0 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCCAGGCGCCCCCCTGcgccg 0.756000 5 6 1.23904e-05 1.31898e-05 0.000602 1 0 BRAF 673 broad.mit.edu 37 7 140482954 140482954 + Nonsense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:140482954G>C ENST00000288602.6 - 10 1241 c.1181C>G c.(1180-1182)tCa>tGa p.S394* NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 394 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) ACCTGTGGTTGATCCTAAATT 0.408000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 7 33 0 0 0.003080 0 0 GABRR1 2569 broad.mit.edu 37 6 89907945 89907945 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:89907945G>A ENST00000435811.1 - 4 769 c.315C>T c.(313-315)ctC>ctT p.L105L GABRR1_ENST00000369451.3_Silent_p.L35L|GABRR1_ENST00000454853.2_Silent_p.L122L NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 122 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GCCTCAGGTAGAGGGTCATCG 0.557000 45 165 0 0 0.013114 0 0 GTF2H4 2968 broad.mit.edu 37 6 30880223 30880223 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:30880223C>T ENST00000259895.4 + 11 1300 c.1077C>T c.(1075-1077)atC>atT p.I359I GTF2H4_ENST00000376316.2_Silent_p.I359I NM_001517.4 NP_001508.1 Q92759 TF2H4_HUMAN general transcription factor IIH, polypeptide 4, 52kDa 359 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 CCAGTGGCATCACAGCCCAGC 0.602000 Nucleotide excision repair (NER) 33 72 0 0 0.003755 0 0 NOL4 8715 broad.mit.edu 37 18 31599332 31599332 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:31599332G>A ENST00000261592.5 - 6 1303 c.1006C>T c.(1006-1008)Cta>Tta p.L336L NOL4_ENST00000269185.4_Silent_p.L222L|NOL4_ENST00000535475.1_Silent_p.L181L|NOL4_ENST00000589544.1_Silent_p.L336L|NOL4_ENST00000535384.1_Silent_p.L51L|NOL4_ENST00000538587.1_Silent_p.L262L NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 336 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TCAGAAATTAGAAGATTCTTA 0.413000 13 33 0 0 0.002450 0 0 RPA4 29935 broad.mit.edu 37 X 96139888 96139888 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:96139888C>T ENST00000373040.3 + 1 982 c.579C>T c.(577-579)aaC>aaT p.N193N DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron NM_013347.4 NP_037479.1 Q13156 RFA4_HUMAN replication protein A4, 30kDa 193 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 13 CTGGGGATAACGATGAGAGTC 0.502000 Other identified genes with known or suspected DNA repair function 22 65 0 0 0.002780 0 0 GBA 2629 broad.mit.edu 37 1 155210461 155210461 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:155210461G>C ENST00000327247.5 - 3 307 c.75C>G c.(73-75)ctC>ctG p.L25L GBA_ENST00000536770.1_Silent_p.L25L|GBA_ENST00000427500.2_Silent_p.L25L|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000428024.2_Intron|GBA_ENST00000368373.3_Silent_p.L25L NM_001005741.2|NM_001005742.2 NP_001005741.1|NP_001005742.1 P04062 GLCM_HUMAN glucosidase, beta, acid 25 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) GCAATCCTGTGAGGCTGCCAG 0.542000 Gaucher disease type I 28 352 0 0 0.009535 0 0 RP1L1 94137 broad.mit.edu 37 8 10465806 10465806 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:10465806C>T ENST00000382483.3 - 4 6025 c.5802G>A c.(5800-5802)gaG>gaA p.E1934E NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1934 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CACCTTCTGACTCTGGCTCGT 0.602000 46 121 0 0 0.014410 0 0 SPPL2B 56928 broad.mit.edu 37 19 2337592 2337592 + RNA SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:2337592C>T ENST00000452401.2 + 0 417 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCGGAGCACGCGGGCTGCT 0.692000 7 16 0 0 0.001984 0 0 ABCC3 8714 broad.mit.edu 37 17 48736659 48736659 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:48736659G>A ENST00000285238.8 + 7 816 c.736G>A c.(736-738)Gag>Aag p.E246K ABCC3_ENST00000427699.1_Missense_Mutation_p.E246K NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 246 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCTAAAGGAAGAGGACAGATC 0.642000 15 107 0 0 0.004007 0 0 COL25A1 84570 broad.mit.edu 37 4 110222978 110222978 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:110222978G>C ENST00000399132.1 - 2 728 c.198C>G c.(196-198)ctC>ctG p.L66L COL25A1_ENST00000399127.1_Silent_p.L66L|COL25A1_ENST00000399126.1_Silent_p.L66L NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 66 collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) TGGCGGATTCGAGAGCGGCGA 0.602000 10 162 0 0 0.008291 0 0 PIGP 51227 broad.mit.edu 37 21 38444733 38444733 + Splice_Site SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr21:38444733C>T ENST00000464265.1 - 1 378 c.e1+1 PIGP_ENST00000399103.1_Splice_Site|PIGP_ENST00000360525.3_Splice_Site|PIGP_ENST00000399102.1_Splice_Site|PIGP_ENST00000399098.1_Splice_Site|PIGP_ENST00000329667.3_Splice_Site NM_153681.2 NP_710148.1 P57054 PIGP_HUMAN phosphatidylinositol glycan anchor biosynthesis, class P C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity kidney(1)|urinary_tract(1) 2 Myeloproliferative disorder(46;0.0412) AAAGTACTTACTGAAGCCAAA 0.438000 20 100 0 0 0.010504 0 0 OBSCN 84033 broad.mit.edu 37 1 228560439 228560439 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:228560439C>T ENST00000570156.2 + 105 24905 c.24831C>T c.(24829-24831)ttC>ttT p.F8277F OBSCN_ENST00000366707.4_Silent_p.F4954F|OBSCN_ENST00000422127.1_Silent_p.F7320F NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7320 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACCTCCCATTCGAGTTTATGA 0.602000 3 24 0 0 0.009096 0 0 SLAMF9 89886 broad.mit.edu 37 1 159921487 159921487 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:159921487C>G ENST00000368093.3 - 4 950 c.834G>C c.(832-834)ttG>ttC p.L278F SLAMF9_ENST00000368092.3_Missense_Mutation_p.L187F|SLAMF9_ENST00000466773.1_5'UTR NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 278 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCTCCTTCCTCAATTTCATTC 0.512000 19 157 0 0 0.012319 0 0 LAX1 54900 broad.mit.edu 37 1 203740522 203740522 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:203740522T>C ENST00000442561.2 + 3 617 c.227T>C c.(226-228)gTc>gCc p.V76A LAX1_ENST00000367217.5_Missense_Mutation_p.V60A|LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 76 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) CGAGTTACCGTCATGCCCTTG 0.493000 26 337 0 0 0.005443 0 0 COL7A1 1294 broad.mit.edu 37 3 48607742 48607742 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:48607742C>A ENST00000328333.8 - 97 7513 c.7406G>T c.(7405-7407)gGg>gTg p.G2469V COL7A1_ENST00000454817.1_Missense_Mutation_p.G2437V NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2469 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCCTCGGGGCCCAGGCAGCCC 0.627000 26 39 9.22233e-05 9.69226e-05 0.004656 1 0 ZSCAN1 284312 broad.mit.edu 37 19 58563859 58563859 + Splice_Site SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:58563859C>T ENST00000282326.1 + 5 714 c.465_splice c.e5-1 p.A156_splice NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 156 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A156E(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCATTCTAGGCGTCTGAGCTG 0.617000 15 56 0 0 0.006122 0 0 KIAA2026 158358 broad.mit.edu 37 9 5988524 5988524 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:5988524C>T ENST00000399933.3 - 2 614 c.615G>A c.(613-615)acG>acA p.T205T KIAA2026_ENST00000381461.2_Silent_p.T205T NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 205 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TAACTGCTATCGTTGTCTTTT 0.443000 4 20 0 0 0.000602 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68273273 68273273 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:68273273C>G ENST00000347230.4 - 6 1144 c.1006G>C c.(1006-1008)Gag>Cag p.E336Q ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E336Q NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 336 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGAATCTGCTCGAGGAAGTGT 0.498000 15 31 0 0 0.002450 0 0 SLAMF9 89886 broad.mit.edu 37 1 159922201 159922201 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:159922201C>A ENST00000368093.3 - 3 631 c.515G>T c.(514-516)cGg>cTg p.R172L SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 172 Ig-like C2-type. integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCTATCCCCCCGGGAGAGCCA 0.577000 125 116 5.08508e-67 6.5168e-67 0.014410 1 0 MSH3 4437 broad.mit.edu 37 5 80171579 80171579 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:80171579C>G ENST00000265081.6 + 24 3392 c.3312C>G c.(3310-3312)ctC>ctG p.L1104L NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 1104 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) GAAAGAGACTCAAGTATTTTG 0.363000 Mismatch excision repair (MMR) 9 45 0 0 0.010729 0 0 MLH1 4292 broad.mit.edu 37 3 37053541 37053541 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:37053541G>A ENST00000231790.2 + 8 844 c.628G>A c.(628-630)Gcc>Acc p.A210T MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.A112T|MLH1_ENST00000536378.1_5'UTR NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 210 mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 ACTACCCAATGCCTCAACCGT 0.383000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 14 54 0 0 0.004990 0 0 SIM1 6492 broad.mit.edu 37 6 100838702 100838702 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:100838702G>T ENST00000369208.3 - 12 2618 c.1836C>A c.(1834-1836)ccC>ccA p.P612P SIM1_ENST00000262901.4_Silent_p.P612P P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 612 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CTGTTGGTGGGGGCTGTTGGT 0.498000 37 62 2.42023e-17 2.89376e-17 0.003271 1 0 CASP2 835 broad.mit.edu 37 7 142988758 142988758 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:142988758C>T ENST00000310447.5 + 2 441 c.200C>T c.(199-201)aCc>aTc p.T67I CASP2_ENST00000392925.2_Missense_Mutation_p.T67I|CASP2_ENST00000493642.1_3'UTR NM_032982.3|NM_032983.3 NP_116764.2|NP_116765.2 P42575 CASP2_HUMAN caspase 2, apoptosis-related cysteine peptidase 67 CARD. apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(164;0.059) GACATCATCACCTTGGAAATG 0.438000 21 124 0 0 0.012319 0 0 CDH8 1006 broad.mit.edu 37 16 61761011 61761011 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:61761011C>A ENST00000577390.1 - 9 2477 c.1523G>T c.(1522-1524)gGa>gTa p.G508V CDH8_ENST00000584337.1_Missense_Mutation_p.G508V|CDH8_ENST00000299345.6_Missense_Mutation_p.G508V|CDH8_ENST00000577730.1_Missense_Mutation_p.G508V NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 508 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GCCGGGTTTTCCATTTTCACA 0.378000 34 66 3.21399e-22 3.92822e-22 0.004878 1 0 SCG3 29106 broad.mit.edu 37 15 51975452 51975452 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:51975452A>T ENST00000220478.3 + 4 621 c.218A>T c.(217-219)gAt>gTt p.D73V SCG3_ENST00000542355.2_5'UTR NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 73 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) TCTTTTGTTGATAACTTGAAC 0.363000 65 102 0 0 0.014410 0 0 EXOG 9941 broad.mit.edu 37 3 38537932 38537932 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:38537932T>C ENST00000287675.5 + 1 170 c.74T>C c.(73-75)gTa>gCa p.V25A EXOG_ENST00000358249.2_5'UTR|EXOG_ENST00000422077.2_Missense_Mutation_p.V25A NM_005107.3 NP_005098.2 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 25 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 17 GCTGGGGCTGTAGTGGGCGCT 0.637000 OREG0015479 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 25 0 0 0.012319 0 0 FLI1 2313 broad.mit.edu 37 11 128628062 128628062 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:128628062G>A ENST00000429175.2 + 2 335 c.71G>A c.(70-72)gGa>gAa p.G24E FLI1_ENST00000344954.6_5'UTR|FLI1_ENST00000527767.2_3'UTR|FLI1_ENST00000534087.1_5'UTR|FLI1_ENST00000525560.1_5'UTR NM_002017.3 NP_002008.2 Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 24 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) TCAGCGTACGGAGCGGCAGCC 0.627000 T EWSR1 Ewing sarcoma 4 6 0 0 0.009096 0 0 ABHD16A 7920 broad.mit.edu 37 6 31671053 31671053 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:31671053C>T ENST00000395952.3 - 1 168 c.6G>A c.(4-6)gcG>gcA p.A2A ABHD16A_ENST00000538874.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_Intron NM_021160.2 NP_066983.1 O95870 ABHGA_HUMAN abhydrolase domain containing 16A 2 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 TCAGCAGCTTCGCCATGGCCC 0.692000 6 39 0 0 0.001168 0 0 SCNN1D 6339 broad.mit.edu 37 1 1221509 1221509 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:1221509G>T ENST00000338555.2 + 4 1414 c.270G>T c.(268-270)ctG>ctT p.L90L SCNN1D_ENST00000325425.8_Silent_p.L156L|SCNN1D_ENST00000379116.5_Silent_p.L254L|SCNN1D_ENST00000400928.3_Silent_p.L90L sodium channel, non-voltage-gated 1, delta subunit lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CCTGGGGGCTGCTGTCCCTGG 0.682000 7 12 0.00198382 0.00204581 0.001984 1 0 GRIN2B 2904 broad.mit.edu 37 12 13720004 13720004 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:13720004C>A ENST00000279593.3 - 12 2762 c.2553G>T c.(2551-2553)atG>atT p.M851I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 851 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AACAGACACCCATAAAGCAAT 0.498000 19 42 1.67942e-08 1.85354e-08 0.006122 1 0 CDH10 1008 broad.mit.edu 37 5 24509699 24509699 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:24509699G>T ENST00000264463.4 - 7 1739 c.1232C>A c.(1231-1233)cCa>cAa p.P411Q NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 411 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AATAGAATCTGGGTCCCTTGC 0.473000 HNSCC(23;0.051) 13 88 8.60227e-14 1.00309e-13 0.004007 1 0 AMFR 267 broad.mit.edu 37 16 56423102 56423102 + Missense_Mutation SNP A A C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:56423102A>C ENST00000290649.5 - 9 1481 c.1271T>G c.(1270-1272)tTc>tGc p.F424C NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 424 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 CTAACCATCGAAATGGAAGAA 0.418000 9 52 0 0 0.008291 0 0 RYR3 6263 broad.mit.edu 37 15 34018589 34018589 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:34018589C>A ENST00000389232.4 + 46 6985 c.6915C>A c.(6913-6915)ctC>ctA p.L2305L RYR3_ENST00000415757.3_Silent_p.L2305L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2305 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCTTCCAGCTCATCCAGACAG 0.547000 6 12 0.00198382 0.00204581 0.001984 1 0 PHF1 5252 broad.mit.edu 37 6 33382112 33382112 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:33382112C>G ENST00000374516.3 + 9 1116 c.845C>G c.(844-846)tCt>tGt p.S282C PHF1_ENST00000374512.3_Missense_Mutation_p.S282C NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 282 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) CCCTTCACTTCTGAGAATTGG 0.493000 OREG0017346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 88 0 0 0.000602 0 0 FRMPD4 9758 broad.mit.edu 37 X 12734961 12734961 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:12734961G>T ENST00000380682.1 + 15 2889 c.2383G>T c.(2383-2385)Gag>Tag p.E795* NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 795 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TGATGACAATGAGGATGACTT 0.562000 36 123 1.30015e-28 1.63137e-28 0.004878 1 0 TAF1L 138474 broad.mit.edu 37 9 32632473 32632473 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:32632473C>T ENST00000242310.4 - 1 3194 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1035 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ACTTTTTAATCTCTTCCTCAG 0.483000 40 204 0 0 0.007835 0 0 RYR2 6262 broad.mit.edu 37 1 237801676 237801676 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:237801676G>T ENST00000366574.2 + 45 7129 c.6812G>T c.(6811-6813)gGt>gTt p.G2271V RYR2_ENST00000360064.6_Missense_Mutation_p.G2269V|RYR2_ENST00000542537.1_Missense_Mutation_p.G2255V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2271 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TATTTGGCTGGTTGTGGACTG 0.403000 36 101 4.3181e-19 5.20063e-19 0.013726 1 0 NUP43 348995 broad.mit.edu 37 6 150048227 150048227 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:150048227C>G ENST00000340413.2 - 8 1097 c.1021G>C c.(1021-1023)Gaa>Caa p.E341Q NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.E245Q|NUP43_ENST00000460354.2_Missense_Mutation_p.E341Q NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 341 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) CTTGTGATTTCAATTCGGTCT 0.418000 10 68 0 0 0.008291 0 0 IGHV3-73 28409 broad.mit.edu 37 14 107211210 107211210 + RNA SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:107211210C>T ENST00000390636.2 - 0 158 AAGCCTCCCCCGGACTCCACC 0.597000 11 130 0 0 0.001855 0 0 MRPS30 10884 broad.mit.edu 37 5 44809664 44809664 + Splice_Site SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:44809664C>T ENST00000507110.1 + 1 638 c.601_splice c.e1+1 p.L200_splice NM_016640.3 NP_057724.2 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 200 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1) 20 Lung NSC(6;8.08e-07) CTGCCGCCCTCGGTGAGCCTT 0.607000 10 61 0 0 0.013537 0 0 MAGEA1 4100 broad.mit.edu 37 X 152482539 152482539 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:152482539C>G ENST00000356661.5 - 3 690 c.472G>C c.(472-474)Gac>Cac p.D158H NM_004988.4 NP_004979.3 P43355 MAGA1_HUMAN melanoma antigen family A, 1 (directs expression of antigen MZ2-E) 158 MAGE. cytoplasm|plasma membrane breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCTTCACGTCAATGCCAAAG 0.502000 38 105 0 0 0.005524 0 0 SLIT3 6586 broad.mit.edu 37 5 168233492 168233492 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:168233492C>G ENST00000519560.1 - 9 1313 c.894G>C c.(892-894)ttG>ttC p.L298F SLIT3_ENST00000332966.8_Missense_Mutation_p.L298F|SLIT3_ENST00000404867.3_Missense_Mutation_p.L298F NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 298 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAATCTCCATCAAGCCCTTTC 0.587000 17 68 0 0 0.007413 0 0 FREM1 158326 broad.mit.edu 37 9 14740193 14740193 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:14740193G>T ENST00000380881.4 - 37 7112 c.6297C>A c.(6295-6297)caC>caA p.H2099Q FREM1_ENST00000380894.1_Missense_Mutation_p.H634Q|FREM1_ENST00000422223.2_Missense_Mutation_p.H2098Q|FREM1_ENST00000380880.3_Missense_Mutation_p.H2098Q Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 2098 C-type lectin. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GCCACCGCATGTGCTGCCTGG 0.473000 36 49 2.26627e-22 2.78019e-22 0.007835 1 0 AHCYL2 23382 broad.mit.edu 37 7 129046264 129046264 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:129046264G>C ENST00000325006.3 + 10 1306 c.1252G>C c.(1252-1254)Gtg>Ctg p.V418L AHCYL2_ENST00000531335.2_Missense_Mutation_p.V337L|AHCYL2_ENST00000474594.1_Missense_Mutation_p.V315L|AHCYL2_ENST00000446544.2_Missense_Mutation_p.V417L|AHCYL2_ENST00000490911.1_Missense_Mutation_p.V315L|AHCYL2_ENST00000446212.1_Missense_Mutation_p.V316L NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 418 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 GGGCTCCATTGTGTATGTAAC 0.502000 16 80 0 0 0.007413 0 0 ACTG1 71 broad.mit.edu 37 17 79478006 79478006 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:79478006C>T ENST00000575842.1 - 4 1357 c.931G>A c.(931-933)Gac>Aac p.D311N ACTG1_ENST00000575087.1_Missense_Mutation_p.D311N|ACTG1_ENST00000573283.1_Missense_Mutation_p.D311N|ACTG1_ENST00000331925.2_Missense_Mutation_p.D311N P63261 ACTG_HUMAN actin, gamma 1 311 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) TGCATCCTGTCGGCAATGCCC 0.612000 15 85 0 0 0.003163 0 0 DSP 1832 broad.mit.edu 37 6 7583579 7583579 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:7583579A>G ENST00000379802.3 + 24 6425 c.6084A>G c.(6082-6084)aaA>aaG p.K2028K DSP_ENST00000418664.2_Silent_p.K1429K NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2028 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTAAGGAAAAATACTCTTTGG 0.483000 28 38 0 0 0.005443 0 0 TULP4 56995 broad.mit.edu 37 6 158914615 158914615 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:158914615G>C ENST00000367097.3 + 10 2999 c.1642G>C c.(1642-1644)Gag>Cag p.E548Q TULP4_ENST00000367094.2_Missense_Mutation_p.E548Q NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 548 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GATCAGCATTGAGGCCCGCAA 0.657000 12 70 0 0 0.010729 0 0 CCDC158 339965 broad.mit.edu 37 4 77292610 77292610 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:77292610T>A ENST00000388914.3 - 9 1261 c.1109A>T c.(1108-1110)cAg>cTg p.Q370L NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 370 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TCCAGATTCCTGACTGAATTG 0.373000 55 16 0 0 0.014410 0 0 AMER1 139285 broad.mit.edu 37 X 63411898 63411898 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:63411898C>A ENST00000330258.3 - 2 1541 c.1269G>T c.(1267-1269)ctG>ctT p.L423L AMER1_ENST00000403336.1_Silent_p.L423L|AMER1_ENST00000374869.3_Silent_p.L423L NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67)|p.L423L(4) GATGGTAGCCCAGGTTCATAT 0.522000 22 57 1.39806e-14 1.64477e-14 0.008361 1 0 SYNPO 11346 broad.mit.edu 37 5 150028936 150028936 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:150028936C>T ENST00000394243.1 + 3 2205 c.1831C>T c.(1831-1833)Ctg>Ttg p.L611L SYNPO_ENST00000519664.1_Silent_p.L367L|SYNPO_ENST00000522122.1_Silent_p.L611L|SYNPO_ENST00000307662.4_Silent_p.L367L NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 611 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACGGGCATTCTGGAGGAGTC 0.582000 13 75 0 0 0.004007 0 0 SRMS 6725 broad.mit.edu 37 20 62178612 62178612 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:62178612C>T ENST00000217188.1 - 1 245 c.205G>A c.(205-207)Gag>Aag p.E69K NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 69 SH3. ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) ACACTCAGCTCCCCGCCACAC 0.697000 4 14 0 0 0.001168 0 0 SULF1 23213 broad.mit.edu 37 8 70550826 70550826 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:70550826G>C ENST00000260128.4 + 20 3091 c.2374G>C c.(2374-2376)Gag>Cag p.E792Q SULF1_ENST00000419716.3_Missense_Mutation_p.E792Q|SULF1_ENST00000458141.2_Missense_Mutation_p.E792Q|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.E792Q NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 792 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TCTTTTCTGTGAGTTTGCTAC 0.353000 13 62 0 0 0.013537 0 0 PLCH2 9651 broad.mit.edu 37 1 2436043 2436043 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:2436043C>A ENST00000419816.2 + 22 3916 c.3642C>A c.(3640-3642)ccC>ccA p.P1214P PLCH2_ENST00000378488.3_Silent_p.P1178P|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378486.3_Silent_p.P1214P|PLCH2_ENST00000449969.1_3'UTR O75038 PLCH2_HUMAN phospholipase C, eta 2 1214 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) AGCGGCCTCCCATACCTGACG 0.687000 22 46 7.41877e-09 8.21542e-09 0.012319 1 0 MORF4L2 9643 broad.mit.edu 37 X 102931253 102931253 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:102931253T>A ENST00000423833.2 - 3 1928 c.703A>T c.(703-705)Att>Ttt p.I235F MORF4L2_ENST00000433176.2_Missense_Mutation_p.I235F|MORF4L2_ENST00000451301.1_Missense_Mutation_p.I235F|MORF4L2_ENST00000360458.1_Missense_Mutation_p.I235F|MORF4L2_ENST00000372620.1_Missense_Mutation_p.I117F|MORF4L2_ENST00000422154.2_Missense_Mutation_p.I235F|MORF4L2_ENST00000441076.2_Missense_Mutation_p.I235F Q15014 MO4L2_HUMAN mortality factor 4 like 2 235 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7) 13 ATTGCTCCAATTCTTACAAAT 0.438000 8 42 0 0 0.003080 0 0 FAM178A 55719 broad.mit.edu 37 10 102719322 102719322 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:102719322G>C ENST00000370269.3 + 19 3687 c.3555G>C c.(3553-3555)ttG>ttC p.L1185F FAM178A_ENST00000238961.3_Intron NM_001136123.1 NP_001129595.1 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 0 CATACTGTTTGAAATAAAATA 0.318000 8 26 0 0 0.003080 0 0 SULT1E1 6783 broad.mit.edu 37 4 70707720 70707720 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:70707720C>T ENST00000226444.3 - 8 989 c.877G>A c.(877-879)Gag>Aag p.E293K NM_005420.2 NP_005411.1 P49888 ST1E1_HUMAN sulfotransferase family 1E, estrogen-preferring, member 1 293 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 TCTTAGATCTCAGTTCGAAAC 0.303000 10 84 0 0 0.008291 0 0 BBOX1 8424 broad.mit.edu 37 11 27141314 27141314 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:27141314C>A ENST00000263182.3 + 7 1126 c.758C>A c.(757-759)tCc>tAc p.S253Y BBOX1_ENST00000525090.1_Missense_Mutation_p.S253Y|BBOX1_ENST00000527505.1_3'UTR|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.S253Y|BBOX1_ENST00000528583.1_Missense_Mutation_p.S253Y|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 253 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) CAGATTTTGTCCTCTACCTTT 0.328000 13 42 4.93089e-13 5.72956e-13 0.002450 1 0 RSC1A1 6248 broad.mit.edu 37 1 15987288 15987288 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:15987288G>C ENST00000345034.1 + 1 925 c.925G>C c.(925-927)Gat>Cat p.D309H DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, member 1 309 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1) 11 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTCCACTCAGGATTTACAGCC 0.393000 12 51 0 0 0.010729 0 0 KIN 22944 broad.mit.edu 37 10 7822262 7822262 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:7822262C>T ENST00000379562.3 - 3 265 c.218G>A c.(217-219)cGa>cAa p.R73Q KIN_ENST00000535925.1_Missense_Mutation_p.R73Q|KIN_ENST00000543003.1_5'UTR O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) 73 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 AAAGTCATTTCGGAATTCCCT 0.299000 6 54 0 0 0.001984 0 0 OR2G3 81469 broad.mit.edu 37 1 247768923 247768923 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:247768923C>T ENST00000320002.2 + 1 68 c.36C>T c.(34-36)ttC>ttT p.F12F RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TAATGGATTTCATCCTTCTAG 0.468000 12 76 0 0 0.001855 0 0 RELN 5649 broad.mit.edu 37 7 103341380 103341380 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:103341380G>A ENST00000428762.1 - 9 1038 c.879C>T c.(877-879)gaC>gaT p.D293D RELN_ENST00000424685.2_Silent_p.D293D|RELN_ENST00000343529.5_Silent_p.D293D NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 293 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) GCTGAATCCAGTCCGCAGAGT 0.363000 40 61 0 0 0.009718 0 0 ADD1 118 broad.mit.edu 37 4 2916722 2916722 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:2916722G>C ENST00000355842.3 + 15 2673 c.1810G>C c.(1810-1812)Gag>Cag p.E604Q ADD1_ENST00000398125.1_Missense_Mutation_p.E604Q|ADD1_ENST00000264758.7_Missense_Mutation_p.E604Q|ADD1_ENST00000398129.1_Missense_Mutation_p.E573Q|ADD1_ENST00000398123.2_Missense_Mutation_p.E604Q|ADD1_ENST00000503455.2_Missense_Mutation_p.E604Q|ADD1_ENST00000446856.1_Missense_Mutation_p.E573Q|ADD1_ENST00000513328.2_Missense_Mutation_p.E573Q P35611 ADDA_HUMAN adducin 1 (alpha) 573 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCGTGAGCTGGAGGAGTACCG 0.602000 6 28 0 0 0.001168 0 0 ZNF92 168374 broad.mit.edu 37 7 64864225 64864225 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:64864225G>T ENST00000328747.7 + 4 1397 c.1198G>T c.(1198-1200)Gaa>Taa p.E400* ZNF92_ENST00000357512.2_Nonsense_Mutation_p.E368*|ZNF92_ENST00000431504.1_Nonsense_Mutation_p.E324*|ZNF92_ENST00000450302.2_Nonsense_Mutation_p.E331* NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 400 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) CTACAAATGTGAAGAATGTGG 0.383000 7 38 0.00198382 0.00204581 0.001984 1 0 RAG2 5897 broad.mit.edu 37 11 36614707 36614707 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:36614707C>A ENST00000311485.3 - 2 1173 c.1012G>T c.(1012-1014)Gtt>Ttt p.V338F NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 338 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) TCTGAAACAACTTGTTTATTG 0.383000 Familial Hemophagocytic Lymphohistiocytosis 34 149 1.99505e-19 2.4116e-19 0.012213 1 0 AGFG2 3268 broad.mit.edu 37 7 100151083 100151083 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:100151083C>T ENST00000300176.4 + 4 667 c.545C>T c.(544-546)cCt>cTt p.P182L AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 182 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CTGGGTGATCCTGCACCGTCT 0.557000 13 76 0 0 0.013537 0 0 TNN 63923 broad.mit.edu 37 1 175046812 175046812 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:175046812C>T ENST00000239462.4 + 2 371 c.258C>T c.(256-258)ttC>ttT p.F86F NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 86 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) ACATCATCTTCAGGCACAACA 0.612000 9 41 0 0 0.004482 0 0 POC1B-GALNT4 100528030 broad.mit.edu 37 12 89917428 89917428 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:89917428C>G ENST00000548729.1 - 3 1192 c.890G>C c.(889-891)aGa>aCa p.R297T POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_Missense_Mutation_p.K41N|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.R128T|POC1B_ENST00000549035.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.R300T|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000541909.1_Intron NM_001199781.1|NM_001199782.1 NP_001186710.1|NP_001186711.1 GGGGTCAATTCTTGATATCCG 0.468000 18 73 0 0 0.007413 0 0 ACADVL 37 broad.mit.edu 37 17 7126511 7126511 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:7126511C>G ENST00000356839.5 + 11 1316 c.1137C>G c.(1135-1137)atC>atG p.I379M ACADVL_ENST00000350303.5_Missense_Mutation_p.I357M|ACADVL_ENST00000543245.2_Missense_Mutation_p.I402M NM_000018.3|NM_001270448.1 NP_000009.1|NP_001257377.1 P49748 ACADV_HUMAN acyl-CoA dehydrogenase, very long chain 379 Catalytic. energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial inner membrane|mitochondrial nucleoid long-chain-acyl-CoA dehydrogenase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1) 21 TTGGGCTGATCCAGGAGAAGC 0.557000 4 67 0 0 0.000602 0 0 TG 7038 broad.mit.edu 37 8 134030239 134030239 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:134030239C>T ENST00000220616.4 + 38 6819 c.6779C>T c.(6778-6780)cCa>cTa p.P2260L TG_ENST00000377869.1_Missense_Mutation_p.P2203L|TG_ENST00000519543.1_Missense_Mutation_p.P393L|TG_ENST00000542445.1_Missense_Mutation_p.P630L NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2260 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GCCAGCAAGCCAAGGTATGGG 0.532000 15 20 0 0 0.002450 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136944 40136944 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:40136944T>A ENST00000278198.2 - 2 2862 c.899A>T c.(898-900)cAc>cTc p.H300L LRRC4C_ENST00000527150.1_Missense_Mutation_p.H300L|LRRC4C_ENST00000530763.1_Missense_Mutation_p.H300L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.H300L Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 300 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CCAAGGGTTGTGATGTAAATG 0.478000 31 53 0 0 0.010818 0 0 C6orf89 221477 broad.mit.edu 37 6 36867275 36867275 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:36867275G>T ENST00000480824.2 + 3 349 c.55G>T c.(55-57)Gat>Tat p.D19Y C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000355190.3_Missense_Mutation_p.D26Y|C6orf89_ENST00000373685.1_Missense_Mutation_p.D19Y|C6orf89_ENST00000510325.2_5'UTR Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 19 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 AGAGACTGTTGATTTGGTGAG 0.433000 22 111 5.45024e-15 6.44652e-15 0.003330 1 0 ZFP30 22835 broad.mit.edu 37 19 38135626 38135626 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:38135626C>T ENST00000351218.2 - 4 578 c.21G>A c.(19-21)atG>atA p.M7I ZFP30_ENST00000392144.1_Missense_Mutation_p.M7I|ZFP30_ENST00000514101.2_Missense_Mutation_p.M7I|ZFP30_ENST00000589018.1_Missense_Mutation_p.M7I NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 7 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATCTCTGAACATCACCAAAT 0.373000 10 41 0 0 0.010729 0 0 CELSR1 9620 broad.mit.edu 37 22 46806436 46806436 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:46806436G>C ENST00000262738.3 - 7 4791 c.4792C>G c.(4792-4794)Cta>Gta p.L1598V NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1598 Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCCAGGAGTAGAGGGCCGGTC 0.637000 15 39 0 0 0.003163 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156909582 156909582 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:156909582G>A ENST00000368194.3 - 37 4893 c.3854C>T c.(3853-3855)tCt>tTt p.S1285F ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S661F|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S1245F|ARHGEF11_ENST00000487682.1_5'UTR NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1245 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCAGGGGTGAGAGGTGACGCT 0.652000 8 98 0 0 0.003080 0 0 USP34 9736 broad.mit.edu 37 2 61522325 61522325 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:61522325C>G ENST00000398571.2 - 31 4431 c.4355G>C c.(4354-4356)aGa>aCa p.R1452T NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1452 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) CCTTATTCTTCTATTAGGTTT 0.333000 24 91 0 0 0.005443 0 0 SUPT3H 8464 broad.mit.edu 37 6 44900479 44900479 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:44900479C>G ENST00000371460.1 - 12 1173 c.856G>C c.(856-858)Gag>Cag p.E286Q SUPT3H_ENST00000306867.5_Missense_Mutation_p.E275Q|SUPT3H_ENST00000371458.1_Missense_Mutation_p.E58Q|SUPT3H_ENST00000371459.1_Missense_Mutation_p.E275Q|SUPT3H_ENST00000371461.2_Missense_Mutation_p.E286Q NM_181356.2 NP_852001.1 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog (S. cerevisiae) 357 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 12 CTGTGAGCCTCAACACCACAG 0.453000 5 35 0 0 0.000602 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:29977358T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 8 61 0 0 0.003080 0 0 FBXO18 84893 broad.mit.edu 37 10 5948241 5948241 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:5948241G>T ENST00000379999.5 + 4 656 c.552G>T c.(550-552)caG>caT p.Q184H FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.Q133H NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 133 F-box. DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 AGAGTAACCAGGCTACCGGGA 0.622000 9 26 2.74318e-10 3.09487e-10 0.006214 1 0 SMOC2 64094 broad.mit.edu 37 6 168927058 168927058 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:168927058A>T ENST00000354536.5 + 3 509 c.289A>T c.(289-291)Acc>Tcc p.T97S SMOC2_ENST00000356284.2_Missense_Mutation_p.T97S NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 97 Thyroglobulin type-1 1. signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) AAGGAAGTATACCCAGGAGCA 0.512000 25 55 0 0 0.010818 0 0 RBAK 57786 broad.mit.edu 37 7 5103989 5103989 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:5103989A>G ENST00000396912.1 + 5 1421 c.902A>G c.(901-903)aAg>aGg p.K301R RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.K301R|RBAK_ENST00000407184.1_Intron NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 301 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) TTCAGCCAAAAGGGAACCCTC 0.408000 25 28 0 0 0.003330 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175984 140175984 + Missense_Mutation SNP G G T rs17844250 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:140175984G>T ENST00000526136.1 + 1 1435 c.1435G>T c.(1435-1437)Gcg>Tcg p.A479S PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A479S|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A479S NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGTGTCAGCGTGGGATGC 0.657000 41 69 7.05121e-23 8.68246e-23 0.010771 1 0 RANBP2 5903 broad.mit.edu 37 2 109382771 109382771 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:109382771G>T ENST00000283195.6 + 20 5902 c.5776G>T c.(5776-5778)Gat>Tat p.D1926Y NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1926 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CCAGGCTCAGGATATTAGTGG 0.408000 96 203 2.57667e-78 3.30857e-78 0.014410 1 0 SLC2A11 66035 broad.mit.edu 37 22 24226953 24226953 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:24226953G>A ENST00000345044.6 + 12 1676 c.1408G>A c.(1408-1410)Gaa>Aaa p.E470K SLC2A11_ENST00000398356.2_Missense_Mutation_p.E477K|SLC2A11_ENST00000316185.8_Missense_Mutation_p.E473K|AP000350.10_ENST00000433835.3_Intron Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 470 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 GATCTCCAAGGAATTACACAG 0.562000 21 59 0 0 0.008871 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173357 207173357 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:207173357G>A ENST00000374423.3 + 5 4491 c.4105G>A c.(4105-4107)Gat>Aat p.D1369N NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1369 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AGAAAGTTCTGATTCCAATGA 0.398000 7 58 0 0 0.001984 0 0 CCIN 881 broad.mit.edu 37 9 36170550 36170550 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:36170550G>T ENST00000335119.2 + 1 1162 c.1051G>T c.(1051-1053)Gat>Tat p.D351Y NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 351 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) GTATGACATGGATGACAACTC 0.572000 16 67 6.31663e-08 6.91372e-08 0.003163 1 0 OMA1 115209 broad.mit.edu 37 1 59004832 59004832 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:59004832A>G ENST00000371226.3 - 2 248 c.135T>C c.(133-135)caT>caC p.H45H OMA1_ENST00000358603.2_Silent_p.H45H|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_Intron NM_145243.3 NP_660286.1 Q96E52 OMA1_HUMAN OMA1 zinc metallopeptidase 45 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) TATTTACTATATGGTTAACTT 0.368000 40 72 0 0 0.014410 0 0 FCER1A 2205 broad.mit.edu 37 1 159273941 159273941 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:159273941G>C ENST00000368115.1 + 4 399 c.300G>C c.(298-300)gaG>gaC p.E100D FCER1A_ENST00000368114.1_Missense_Mutation_p.E67D NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 100 Ig-like 1. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) AAGTTAATGAGAGTGAACCTG 0.403000 7 151 0 0 0.010729 0 0 INTS6 26512 broad.mit.edu 37 13 51963515 51963515 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr13:51963515C>A ENST00000311234.4 - 6 1151 c.679G>T c.(679-681)Gta>Tta p.V227L INTS6_ENST00000398119.2_Missense_Mutation_p.V214L|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000497989.1_Missense_Mutation_p.V49L|INTS6_ENST00000420668.2_Missense_Mutation_p.K165N|INTS6_ENST00000463928.1_Missense_Mutation_p.V227L NM_012141.2 NP_036273.1 Q9UL03 INT6_HUMAN integrator complex subunit 6 227 VWFA. snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) CCACTTTGTACTTTCTGCACC 0.383000 39 111 1.97e-11 2.25338e-11 0.010771 1 0 BRCA2 675 broad.mit.edu 37 13 32968918 32968918 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr13:32968918C>A ENST00000544455.1 + 25 9576 c.9349C>A c.(9349-9351)Cat>Aat p.H3117N BRCA2_ENST00000380152.3_Missense_Mutation_p.H3117N NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 3117 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TATTAAGCCTCATATGTTAAT 0.398000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 7 28 2.7689e-08 3.04579e-08 0.001984 1 0 IRF8 3394 broad.mit.edu 37 16 85936694 85936694 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:85936694G>T ENST00000268638.5 + 2 495 c.73G>T c.(73-75)Gga>Tga p.G25* IRF8_ENST00000563180.1_Nonsense_Mutation_p.G25* NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 25 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) CATGTATCCAGGACTGATTTG 0.488000 33 66 1.22384e-17 1.46594e-17 0.013726 1 0 PKD1L1 168507 broad.mit.edu 37 7 47882650 47882650 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:47882650G>C ENST00000289672.2 - 34 5405 c.5355C>G c.(5353-5355)atC>atG p.I1785M NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1785 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CTTGCAGAAAGATGTAACCAG 0.448000 12 39 0 0 0.013537 0 0 KDM5A 5927 broad.mit.edu 37 12 427406 427406 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:427406G>A ENST00000399788.2 - 19 3125 c.2763C>T c.(2761-2763)gtC>gtT p.V921V KDM5A_ENST00000382815.4_Silent_p.V921V NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 921 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 GCTTCTTCATGACATCCAAAG 0.498000 T NUP98 AML 21 125 0 0 0.014323 0 0 ZNF112 7665 broad.mit.edu 37 19 44833574 44833574 + Nonsense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:44833574G>A ENST00000354340.4 - 4 787 c.736C>T c.(736-738)Caa>Taa p.Q246* ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Q269*|ZNF112_ENST00000337401.4_Nonsense_Mutation_p.Q252* NM_013380.3 NP_037512.3 zinc finger protein 112 TCCTCTGTTTGAATTGACTCC 0.423000 19 63 0 0 0.007413 0 0 ACSF3 197322 broad.mit.edu 37 16 89180750 89180750 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:89180750G>A ENST00000317447.4 + 6 1358 c.981G>A c.(979-981)ctG>ctA p.L327L CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000406948.3_Silent_p.L327L|ACSF3_ENST00000378345.4_Silent_p.L62L NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 327 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) CGCGTAGGCTGATGGTCTCAG 0.627000 16 51 0 0 0.004990 0 0 CNKSR1 10256 broad.mit.edu 37 1 26514740 26514740 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:26514740C>G ENST00000531191.1 + 16 1703 c.696C>G c.(694-696)ctC>ctG p.L232L CNKSR1_ENST00000361530.6_Silent_p.L490L|CNKSR1_ENST00000374253.5_Silent_p.L497L Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 497 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging p.L490L(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) TGCGTCATCTCATTACCTGCA 0.582000 6 46 0 0 0.001984 0 0 PTGER4 5734 broad.mit.edu 37 5 40692198 40692198 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:40692198C>T ENST00000302472.3 + 3 2209 c.1185C>T c.(1183-1185)ctC>ctT p.L395L NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 395 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CTCAGACCCTCCTGCCAGACC 0.567000 21 49 0 0 0.003330 0 0 PRRC2C 23215 broad.mit.edu 37 1 171544259 171544259 + Nonsense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:171544259C>G ENST00000367742.3 + 25 7189 c.6947C>G c.(6946-6948)tCa>tGa p.S2316* PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.S2316*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.S2249*|PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.S2314* Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 2314 protein C-terminus binding CCTACAGCATCACTATCAGGT 0.388000 3 33 0 0 0.009096 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964676 7964676 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:7964676C>G ENST00000539278.1 - 1 3751 c.591G>C c.(589-591)caG>caC p.Q197H LRRC8E_ENST00000306708.6_Silent_p.L423L AGCTGGCCCTCTGCATGCTGC 0.627000 5 32 0 0 0.001168 0 0 SDK1 221935 broad.mit.edu 37 7 4277383 4277383 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:4277383G>T ENST00000404826.2 + 42 6236 c.6097G>T c.(6097-6099)Ggg>Tgg p.G2033W SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Missense_Mutation_p.G2013W NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 2033 cell adhesion integral to membrane p.G2033W(1) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGTCCTGCACGGGCAGAATAA 0.572000 41 36 3.4345e-17 4.09904e-17 0.011902 1 0 CSPG4 1464 broad.mit.edu 37 15 75968709 75968709 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:75968709C>A ENST00000308508.5 - 10 6243 c.6151G>T c.(6151-6153)Gca>Tca p.A2051S CTD-2026K11.1_ENST00000569467.1_RNA NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 2051 Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GGCCCACCTGCCCACACATGC 0.647000 6 26 0.00116845 0.00121254 0.001168 1 0 FRMD1 79981 broad.mit.edu 37 6 168468049 168468049 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:168468049C>G ENST00000283309.6 - 3 446 c.382G>C c.(382-384)Gaa>Caa p.E128Q FRMD1_ENST00000440994.2_Missense_Mutation_p.E60Q|FRMD1_ENST00000537786.1_5'UTR NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 128 FERM. cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) ACACTTACTTCATTTCTTTCT 0.512000 8 47 0 0 0.003080 0 0 DSCAM 1826 broad.mit.edu 37 21 41725430 41725430 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr21:41725430T>A ENST00000400454.1 - 5 1373 c.896A>T c.(895-897)tAc>tTc p.Y299F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 299 Ig-like C2-type 3. 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) AGCAGTTCCGTATCTGTTGGA 0.512000 19 130 0 0 0.014323 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144866706 144866706 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:144866706C>G ENST00000369359.4 - 37 5982 c.5944G>C c.(5944-5946)Gag>Cag p.E1982Q PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1846Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1846Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1740Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1931Q Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1846 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCAAGATGCTCTTCCAGCAGG 0.597000 T PDGFRB MPD 5 108 0 0 0.000602 0 0 FAM47C 442444 broad.mit.edu 37 X 37028224 37028224 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:37028224C>A ENST00000358047.3 + 1 1793 c.1741C>A c.(1741-1743)Cat>Aat p.H581N NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 581 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TGGAGTGTCCCATCTCTGCCC 0.657000 57 115 3.00063e-23 3.7156e-23 0.014410 1 0 MOV10L1 54456 broad.mit.edu 37 22 50591507 50591507 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:50591507G>A ENST00000262794.5 + 22 3009 c.2926G>A c.(2926-2928)Gag>Aag p.E976K MOV10L1_ENST00000395852.1_Missense_Mutation_p.E103K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E956K|MOV10L1_ENST00000354853.2_Missense_Mutation_p.E19K|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E976K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E976K|MOV10L1_ENST00000395843.1_Missense_Mutation_p.E19K NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 976 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CCGGTCCCACGAGGCCCTGCT 0.587000 21 73 0 0 0.010504 0 0 TTN 7273 broad.mit.edu 37 2 179424766 179424766 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:179424766C>A ENST00000589042.1 - 326 86317 c.86093G>T c.(86092-86094)tGg>tTg p.W28698L TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W19758L|TTN_ENST00000342992.6_Missense_Mutation_p.W26130L|TTN_ENST00000342175.6_Missense_Mutation_p.W19825L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W27057L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W19633L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27057 Fibronectin type-III 109. 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) GGAAGTTTTCCAGTCAGTGTC 0.398000 13 37 1.49906e-05 1.5932e-05 0.002450 1 0 RFPL1 5988 broad.mit.edu 37 22 29837589 29837589 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:29837589C>A ENST00000354373.2 + 2 641 c.432C>A c.(430-432)ctC>ctA p.L144L RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 144 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 CTGACGACCTCAGGAGCGTCC 0.502000 23 90 1.17739e-12 1.36091e-12 0.005443 1 0 EML2 24139 broad.mit.edu 37 19 46124873 46124873 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:46124873C>T ENST00000536630.1 - 13 1443 c.1305G>A c.(1303-1305)gcG>gcA p.A435A EML2_ENST00000586902.1_5'UTR|EML2_ENST00000245925.3_Silent_p.A288A|EML2_ENST00000589876.1_Silent_p.A288A|EML2_ENST00000587152.1_Silent_p.A489A NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 288 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) CGCCCAGCACCGCCTGTGTGA 0.672000 4 29 0 0 0.001168 0 0 GYPA 2993 broad.mit.edu 37 4 145061855 145061855 + Translation_Start_Site SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:145061855G>T ENST00000360771.4 - 0 49 NM_002099.6 NP_002090.4 P02724 GLPA_HUMAN glycophorin A (MNS blood group) interspecies interaction between organisms membrane fraction receptor activity central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 all_hematologic(180;0.15) GCAAGTGTCAGTGTCTGACCT 0.433000 6 15 2.7689e-08 3.04579e-08 0.001984 1 0 SCYL1 57410 broad.mit.edu 37 11 65293487 65293487 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:65293487G>C ENST00000524944.1 + 3 381 c.348G>C c.(346-348)gaG>gaC p.E116D SCYL1_ENST00000533862.1_Missense_Mutation_p.E116D|SCYL1_ENST00000525364.1_Missense_Mutation_p.E116D|SCYL1_ENST00000527009.1_5'UTR|SCYL1_ENST00000270176.5_Missense_Mutation_p.E116D|SCYL1_ENST00000420247.2_Missense_Mutation_p.E116D|SCYL1_ENST00000279270.6_Missense_Mutation_p.E116D|SCYL1_ENST00000527630.1_Missense_Mutation_p.E116D Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 116 Protein kinase. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 AGGAGCTGGAGATCTCCTGGG 0.607000 9 91 0 0 0.006214 0 0 PIH1D1 55011 broad.mit.edu 37 19 49950617 49950617 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:49950617C>T ENST00000262265.5 - 6 824 c.589G>A c.(589-591)Gcc>Acc p.A197T PIH1D1_ENST00000596049.1_Missense_Mutation_p.A197T NM_017916.2 NP_060386.1 Q9NWS0 PIHD1_HUMAN PIH1 domain containing 1 197 box C/D snoRNP assembly pre-snoRNP complex NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1) 11 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) CTCCCGGGGGCGGGCGTGTAC 0.627000 14 59 0 0 0.004007 0 0 VPS37B 79720 broad.mit.edu 37 12 123380591 123380591 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:123380591C>T ENST00000267202.2 - 1 400 c.19G>A c.(19-21)Gaa>Aaa p.E7K NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 7 cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) AACCGGGCTTCGCTCCCGGCG 0.736000 4 51 0 0 0.009096 0 0 TOP2A 7153 broad.mit.edu 37 17 38556186 38556186 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:38556186G>A ENST00000423485.1 - 24 3292 c.3134C>T c.(3133-3135)tCt>tTt p.S1045F NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 1045 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CAGTTTAGCAGATTCAGCACC 0.333000 4 31 0 0 0.009096 0 0 PCDH9 5101 broad.mit.edu 37 13 67802282 67802282 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr13:67802282G>C ENST00000544246.1 - 2 982 c.291C>G c.(289-291)ctC>ctG p.L97L PCDH9_ENST00000456367.1_Silent_p.L97L|PCDH9_ENST00000377865.2_Silent_p.L97L|PCDH9_ENST00000328454.5_Silent_p.L97L|PCDH9_ENST00000377861.3_Silent_p.L97L NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 97 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CGCCAGCACAGAGTTTTTCTC 0.438000 12 44 0 0 0.001855 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977359 29977359 + RNA SNP G G A rs3831361 by1000genomes TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:29977359G>A ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA ATTTGTTCATGCCTTCCCTTT 0.453000 8 60 0 0 0.003080 0 0 TRIO 7204 broad.mit.edu 37 5 14291313 14291313 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:14291313G>A ENST00000344204.4 + 5 1053 c.1029G>A c.(1027-1029)agG>agA p.R343R TRIO_ENST00000537187.1_Silent_p.R343R|TRIO_ENST00000509967.2_Silent_p.R294R NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 343 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TCCAGCTGAGGCTGTTTGAAC 0.587000 26 63 0 0 0.003330 0 0 CCDC141 285025 broad.mit.edu 37 2 179718180 179718180 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:179718180G>C ENST00000420890.2 - 20 3349 c.3232C>G c.(3232-3234)Cag>Gag p.Q1078E CCDC141_ENST00000295723.5_Missense_Mutation_p.Q503E NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 503 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TATAAGTGCTGAGCAAGGTCA 0.433000 23 151 0 0 0.005443 0 0 KDM4C 23081 broad.mit.edu 37 9 6986486 6986486 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:6986486A>T ENST00000381309.3 + 11 2062 c.1497A>T c.(1495-1497)aaA>aaT p.K499N KDM4C_ENST00000536108.1_Missense_Mutation_p.K318N|KDM4C_ENST00000381306.3_Missense_Mutation_p.K499N|KDM4C_ENST00000428870.2_Missense_Mutation_p.K186N|KDM4C_ENST00000543771.1_Missense_Mutation_p.K499N|KDM4C_ENST00000535193.1_Missense_Mutation_p.K521N|KDM4C_ENST00000442236.2_Missense_Mutation_p.K318N NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 499 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 AGCCCGAGAAATCAGACCCAT 0.463000 10 59 0 0 0.008291 0 0 PTPN23 25930 broad.mit.edu 37 3 47453061 47453061 + Missense_Mutation SNP C C T rs146178681 byFrequency TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:47453061C>T ENST00000265562.4 + 20 3850 c.3773C>T c.(3772-3774)cCg>cTg p.P1258L PTPN23_ENST00000431726.1_Missense_Mutation_p.P1132L NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 1258 Tyrosine-protein phosphatase. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity p.P1258L(2) breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TACTGCCCCCCGCTAGTGGCA 0.577000 6 54 0 0 0.001984 0 0 IL7 3574 broad.mit.edu 37 8 79652305 79652305 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:79652305C>G ENST00000263851.4 - 3 760 c.160G>C c.(160-162)Gaa>Caa p.E54Q IL7_ENST00000519833.1_5'UTR|IL7_ENST00000520269.1_Missense_Mutation_p.E54Q|IL7_ENST00000541183.1_Missense_Mutation_p.E3Q NM_000880.3|NM_001199886.1|NM_001199887.1 NP_000871.1|NP_001186815.1|NP_001186816.1 P13232 IL7_HUMAN interleukin 7 54 bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-7 receptor binding endometrium(2)|large_intestine(2)|lung(1) 5 CTACCAATTTCTTTCATGCTG 0.229000 9 36 0 0 0.006214 0 0 ABCC10 89845 broad.mit.edu 37 6 43411937 43411937 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:43411937G>T ENST00000244533.3 + 10 2810 c.2451G>T c.(2449-2451)gaG>gaT p.E817D ABCC10_ENST00000372530.4_Missense_Mutation_p.E845D NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 845 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AAACAAAGGAGGGGCTGGAGG 0.552000 10 23 7.48243e-07 8.09574e-07 0.006214 1 0 GPR52 9293 broad.mit.edu 37 1 174418080 174418080 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:174418080G>C ENST00000367685.2 + 1 869 c.831G>C c.(829-831)ctG>ctC p.L277L RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron NM_005684.4 NP_005675.3 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 277 integral to plasma membrane G-protein coupled receptor activity breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 TTTATATGCTGTGGCTCCCCT 0.438000 16 127 0 0 0.004007 0 0 PIWIL1 9271 broad.mit.edu 37 12 130842061 130842061 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:130842061G>A ENST00000245255.3 + 14 1900 c.1628G>A c.(1627-1629)aGa>aAa p.R543K NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 543 RNA-binding (By similarity). gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GCCTACTTAAGAGTCTTACAG 0.423000 18 62 0 0 0.014323 0 0 PHF2 5253 broad.mit.edu 37 9 96439907 96439907 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:96439907G>A ENST00000359246.4 + 22 3607 c.3240G>A c.(3238-3240)caG>caA p.Q1080Q PHF2_ENST00000375376.4_Silent_p.Q311Q NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 1080 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CCGCCAAGCAGAGGCTTGGGA 0.537000 36 121 0 0 0.003755 0 0 PDLIM5 10611 broad.mit.edu 37 4 95445019 95445019 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:95445019C>G ENST00000317968.4 + 3 377 c.241C>G c.(241-243)Ctg>Gtg p.L81V PDLIM5_ENST00000514743.1_Missense_Mutation_p.L81V|PDLIM5_ENST00000508216.1_Missense_Mutation_p.L81V|PDLIM5_ENST00000380180.3_Missense_Mutation_p.L81V|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L81V|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000450793.1_Missense_Mutation_p.L81V|PDLIM5_ENST00000318007.5_Missense_Mutation_p.L81V|PDLIM5_ENST00000538141.1_Missense_Mutation_p.L81V NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448.4 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 81 PDZ. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) GAATATGACTCTGCAAAGGTA 0.393000 6 37 0 0 0.001168 0 0 OR5J2 282775 broad.mit.edu 37 11 55944604 55944604 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:55944604C>A ENST00000312298.1 + 1 511 c.511C>A c.(511-513)Cta>Ata p.L171I NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) CTTTTGTAGGCTAAATGCTGT 0.438000 17 41 1.45105e-14 1.70408e-14 0.006122 1 0 LAMA1 284217 broad.mit.edu 37 18 7044805 7044805 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:7044805C>A ENST00000389658.3 - 7 985 c.892G>T c.(892-894)Ggg>Tgg p.G298W NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 298 Laminin EGF-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGCTCTCCCCGCAAGTATTA 0.448000 43 106 9.58827e-17 1.14023e-16 0.014410 1 0 POM121L12 285877 broad.mit.edu 37 7 53103733 53103733 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:53103733G>T ENST00000408890.4 + 1 385 c.369G>T c.(367-369)ggG>ggT p.G123G NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 123 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TGAAAGGGGGGCTGTGTCGTG 0.697000 9 32 2.17888e-05 2.31199e-05 0.006214 1 0 ITGAE 3682 broad.mit.edu 37 17 3661042 3661042 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:3661042G>C ENST00000263087.4 - 9 1076 c.978C>G c.(976-978)atC>atG p.I326M NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 326 VWFA. cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) TGGGGGAGTTGATGACTGTCG 0.582000 45 153 0 0 0.014410 0 0 ROS1 6098 broad.mit.edu 37 6 117632184 117632184 + Splice_Site SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:117632184T>A ENST00000368508.3 - 39 6430 c.6233_splice c.e39+1 p.R2078_splice ROS1_ENST00000368507.3_Splice_Site_p.R2072_splice NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2078 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GAATTGTACCTGTGAATGAAA 0.383000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 31 42 0 0 0.010818 0 0 TRIM44 54765 broad.mit.edu 37 11 35827924 35827924 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:35827924G>A ENST00000299413.5 + 5 1331 c.1024G>A c.(1024-1026)Gag>Aag p.E342K TRIM44_ENST00000532066.1_3'UTR NM_017583.4 NP_060053.2 Q96DX7 TRI44_HUMAN tripartite motif containing 44 342 intracellular protein binding|zinc ion binding endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115) all_hematologic(20;0.107) CAGTGAAGAAGAGGACACATG 0.473000 19 83 0 0 0.010504 0 0 ACSBG1 23205 broad.mit.edu 37 15 78526821 78526821 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:78526821C>T ENST00000258873.4 - 1 228 c.23G>A c.(22-24)gGa>gAa p.G8E ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 8 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 GCAGCCGTATCCAGCTCCAGA 0.597000 69 118 0 0 0.014410 0 0 APOBR 55911 broad.mit.edu 37 16 28507384 28507384 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:28507384C>T ENST00000564831.1 + 2 1055 c.1022C>T c.(1021-1023)tCa>tTa p.S341L APOBR_ENST00000328423.5_Missense_Mutation_p.S341L|APOBR_ENST00000431282.1_Missense_Mutation_p.S341L NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 341 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GGGATAGCCTCAGGCGGGGAG 0.721000 3 15 0 0 0.004672 0 0 WDR66 144406 broad.mit.edu 37 12 122396299 122396299 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:122396299C>T ENST00000288912.4 + 12 2706 c.1852C>T c.(1852-1854)Caa>Taa p.Q618* WDR66_ENST00000397454.2_Nonsense_Mutation_p.Q618* NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 618 calcium ion binding p.Q618*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CCACCCATATCAACCCCTCAT 0.463000 30 122 0 0 0.008361 0 0 RASAL1 8437 broad.mit.edu 37 12 113565663 113565663 + Silent SNP G G A rs61759864 byFrequency TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:113565663G>A ENST00000546530.1 - 5 537 c.252C>T c.(250-252)atC>atT p.I84I RASAL1_ENST00000261729.5_Silent_p.I84I|RASAL1_ENST00000548055.1_Silent_p.I84I|RASAL1_ENST00000446861.3_Silent_p.I84I|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 84 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 AGATCTTGCCGATGATGTCGT 0.662000 7 77 0 0 0.001984 0 0 ZNF223 7766 broad.mit.edu 37 19 44570526 44570526 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:44570526G>T ENST00000591793.1 + 7 958 c.875G>T c.(874-876)gGa>gTa p.G292V ZNF223_ENST00000434772.3_Missense_Mutation_p.G182V Q9UK11 ZN223_HUMAN zinc finger protein 223 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) GATGAGTGTGGAAAAAGCTTC 0.428000 45 117 3.77171e-38 4.82428e-38 0.014410 1 0 SEPT2 4735 broad.mit.edu 37 2 242283227 242283227 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:242283227G>T ENST00000391973.2 + 9 1285 c.757G>T c.(757-759)Gtc>Ttc p.V253F SEPT2_ENST00000360051.3_Missense_Mutation_p.V253F|SEPT2_ENST00000402092.2_Missense_Mutation_p.V253F|SEPT2_ENST00000401990.1_Missense_Mutation_p.V263F|SEPT2_ENST00000407971.1_Missense_Mutation_p.V213F|SEPT2_ENST00000391971.2_Missense_Mutation_p.V253F NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 253 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) AGGAAAGAAGGTCAGAGGCCG 0.502000 11 264 0.00010058 0.000105537 0.013537 1 0 FEZ1 9638 broad.mit.edu 37 11 125359520 125359520 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:125359520C>T ENST00000278919.3 - 2 388 c.154G>A c.(154-156)Gaa>Aaa p.E52K FEZ1_ENST00000366139.3_Missense_Mutation_p.E52K|FEZ1_ENST00000524435.1_Missense_Mutation_p.E52K NM_005103.4 NP_005094.1 Q99689 FEZ1_HUMAN fasciculation and elongation protein zeta 1 (zygin I) 52 axon guidance|cell adhesion|transport microtubule|plasma membrane breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 24 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) CTGATTATTTCGGAAGAAAAA 0.507000 5 58 0 0 0.000602 0 0 KLHL20 27252 broad.mit.edu 37 1 173703142 173703142 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:173703142G>T ENST00000209884.4 + 3 450 c.314G>T c.(313-315)cGt>cTt p.R105L KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron NM_014458.3 NP_055273.2 Q9Y2M5 KLH20_HUMAN kelch-like family member 20 105 BTB. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 GCAGAGAGCCGTCAGACAGAA 0.468000 9 84 7.03913e-09 7.80811e-09 0.013537 1 0 MAGOHB 55110 broad.mit.edu 37 12 10766091 10766091 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:10766091C>A ENST00000320756.2 - 1 131 c.41G>T c.(40-42)gGg>gTg p.G14V MAGOHB_ENST00000539554.1_Intron|MAGOHB_ENST00000381881.2_Missense_Mutation_p.G14V NM_018048.3 NP_060518.1 Q96A72 MGN2_HUMAN mago-nashi homolog B (Drosophila) 14 mRNA processing|mRNA transport|RNA splicing nucleus RNA binding breast(2)|large_intestine(2) 4 GCCCTTGTGCCCTACGTAGTA 0.612000 45 67 1.61863e-15 1.92139e-15 0.014410 1 0 RAPGEF2 9693 broad.mit.edu 37 4 160244634 160244634 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:160244634C>T ENST00000264431.4 + 5 950 c.531C>T c.(529-531)ctC>ctT p.L177L NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 177 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) CAGTGATTCTCAATGGATCTG 0.398000 6 106 0 0 0.003080 0 0 PRDM10 56980 broad.mit.edu 37 11 129814802 129814802 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:129814802G>A ENST00000358825.5 - 6 857 c.626C>T c.(625-627)cCc>cTc p.P209L PRDM10_ENST00000423662.2_Missense_Mutation_p.P123L|PRDM10_ENST00000528746.1_Missense_Mutation_p.P183L|PRDM10_ENST00000304538.6_Missense_Mutation_p.P123L|PRDM10_ENST00000360871.3_Missense_Mutation_p.P209L|PRDM10_ENST00000526082.1_Missense_Mutation_p.P123L NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 209 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GAGCACCAGGGGGAGGCTCGC 0.667000 17 20 0 0 0.007413 0 0 SRD5A3 79644 broad.mit.edu 37 4 56236183 56236183 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:56236183C>G ENST00000264228.4 + 5 1110 c.882C>G c.(880-882)ctC>ctG p.L294L SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA NM_024592.4 NP_078868.1 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 294 androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) CTGCCTTTCTCAGCCACCAAT 0.423000 5 101 0 0 0.001984 0 0 PTPRU 10076 broad.mit.edu 37 1 29639188 29639188 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:29639188C>G ENST00000373779.3 + 22 3326 c.3197C>G c.(3196-3198)cCt>cGt p.P1066R PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Missense_Mutation_p.P1072R|PTPRU_ENST00000345512.3_Missense_Mutation_p.P1076R|PTPRU_ENST00000323874.8_Missense_Mutation_p.P1072R|PTPRU_ENST00000460170.2_Missense_Mutation_p.P1072R|PTPRU_ENST00000428026.2_Missense_Mutation_p.P1063R NM_001195001.1|NM_133178.3 NP_001181930.1|NP_573439.2 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1076 Tyrosine-protein phosphatase 1. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) TCCACCCCACCTGATGCCGGG 0.642000 3 28 0 0 0.004672 0 0 ARVCF 421 broad.mit.edu 37 22 19961246 19961246 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:19961246G>C ENST00000263207.3 - 13 2450 c.2159C>G c.(2158-2160)tCt>tGt p.S720C ARVCF_ENST00000406259.1_Missense_Mutation_p.S714C|ARVCF_ENST00000406522.1_Missense_Mutation_p.S651C|ARVCF_ENST00000344269.3_Missense_Mutation_p.S657C|ARVCF_ENST00000401994.1_Missense_Mutation_p.S657C NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 720 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) GTCGGTCTCAGACTGCAGCAG 0.662000 5 71 0 0 0.001168 0 0 KRT75 9119 broad.mit.edu 37 12 52824329 52824329 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:52824329G>C ENST00000252245.5 - 5 1251 c.1031C>G c.(1030-1032)aCc>aGc p.T344S NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 344 Coil 2.|Rod. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) GCTCACCTTGGTCTGGTACCA 0.542000 51 71 0 0 0.014410 0 0 BBOX1 8424 broad.mit.edu 37 11 27114762 27114762 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:27114762G>A ENST00000263182.3 + 5 750 c.382G>A c.(382-384)Gaa>Aaa p.E128K BBOX1_ENST00000525090.1_Missense_Mutation_p.E128K|BBOX1_ENST00000527505.1_Intron|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.E128K|BBOX1_ENST00000528583.1_Missense_Mutation_p.E128K|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 128 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) TTTGGATTTTGAAGATGTTTT 0.408000 9 40 0 0 0.004482 0 0 JAKMIP2 9832 broad.mit.edu 37 5 146997621 146997621 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:146997621G>C ENST00000265272.5 - 19 2666 c.2199C>G c.(2197-2199)atC>atG p.I733M JAKMIP2_ENST00000507386.1_Missense_Mutation_p.I712M|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.I691M NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 733 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCAAACTTGATAACAGTTT 0.403000 33 54 0 0 0.006230 0 0 GRSF1 2926 broad.mit.edu 37 4 71690060 71690060 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:71690060C>T ENST00000254799.6 - 9 1536 c.1419G>A c.(1417-1419)ctG>ctA p.L473L GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Silent_p.L311L|GRSF1_ENST00000545193.1_Silent_p.L355L|GRSF1_ENST00000439371.1_Silent_p.L311L NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 473 RRM 3. mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) GACATGAATTCAGGAACAGTT 0.358000 3 15 0 0 0.004672 0 0 ST8SIA2 8128 broad.mit.edu 37 15 93007521 93007521 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:93007521C>A ENST00000268164.3 + 6 1271 c.1034C>A c.(1033-1035)cCg>cAg p.P345Q ST8SIA2_ENST00000539113.1_Missense_Mutation_p.P324Q NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 345 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CAGGCCAGCCCGCATACCATG 0.572000 30 60 0.00209593 0.00215805 0.010818 1 0 RPS6KA3 6197 broad.mit.edu 37 X 20187547 20187547 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:20187547C>G ENST00000379565.3 - 16 1623 c.1416G>C c.(1414-1416)caG>caC p.Q472H RPS6KA3_ENST00000544447.1_Missense_Mutation_p.Q444H|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.Q443H|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.Q442H NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 472 Protein kinase 2. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 TGTTTGGATGCTGTCCATAAC 0.308000 24 104 0 0 0.005443 0 0 NETO1 81832 broad.mit.edu 37 18 70451117 70451117 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:70451117C>T ENST00000327305.6 - 7 1321 c.664G>A c.(664-666)Gag>Aag p.E222K NETO1_ENST00000299430.2_Missense_Mutation_p.E221K|NETO1_ENST00000583169.1_Missense_Mutation_p.E222K NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 222 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TTCTGCATCTCATAGTCCAAG 0.348000 23 79 0 0 0.012319 0 0 PRSS1 5644 broad.mit.edu 37 7 142460304 142460304 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:142460304G>T ENST00000486171.1 + 5 536 c.519G>T c.(517-519)caG>caT p.Q173H PRSS1_ENST00000311737.7_Missense_Mutation_p.Q159H P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 159 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ACGAGCTGCAGTGCCTGGATG 0.522000 17 264 3.32936e-07 3.62006e-07 0.006122 1 0 ZNF709 163051 broad.mit.edu 37 19 12575934 12575934 + Nonsense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:12575934G>A ENST00000397732.3 - 4 973 c.802C>T c.(802-804)Caa>Taa p.Q268* ZNF709_ENST00000428311.1_Nonsense_Mutation_p.Q268*|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TCATGTATTTGAAAAGTTTGG 0.383000 9 27 0 0 0.004482 0 0 CLPTM1 1209 broad.mit.edu 37 19 45493695 45493695 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:45493695C>G ENST00000541297.2 + 10 1598 c.1133C>G c.(1132-1134)tCc>tGc p.S378C CLPTM1_ENST00000546079.1_Missense_Mutation_p.S290C|CLPTM1_ENST00000337392.5_Missense_Mutation_p.S392C O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 392 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) GAGGGCCTGTCCGTGCGCTCC 0.597000 38 157 0 0 0.007835 0 0 COL9A1 1297 broad.mit.edu 37 6 70935635 70935635 + Splice_Site SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:70935635C>A ENST00000357250.6 - 37 2739 c.2581_splice c.e37+1 p.G861_splice RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Splice_Site_p.G618_splice|COL9A1_ENST00000320755.7_Splice_Site_p.G618_splice NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 861 Triple-helical region (COL1). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 ACACACTTACCTGGGAGACCT 0.433000 37 54 6.68952e-21 8.13091e-21 0.013114 1 0 TGFBR2 7048 broad.mit.edu 37 3 30713446 30713446 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:30713446G>C ENST00000295754.5 + 4 1153 c.771G>C c.(769-771)gaG>gaC p.E257D TGFBR2_ENST00000359013.4_Missense_Mutation_p.E282D NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 257 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 GCTTTGCTGAGGTCTATAAGG 0.517000 8 53 0 0 0.004482 0 0 HECA 51696 broad.mit.edu 37 6 139488428 139488428 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:139488428G>A ENST00000367658.2 + 2 1564 c.1279G>A c.(1279-1281)Gag>Aag p.E427K RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA NM_016217.2 NP_057301.1 Q9UBI9 HDC_HUMAN headcase homolog (Drosophila) 427 respiratory tube development endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) GAGACATGATGAGATCGAATA 0.463000 16 57 0 0 0.003163 0 0 PLIN5 440503 broad.mit.edu 37 19 4523664 4523664 + Missense_Mutation SNP T T G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:4523664T>G ENST00000381848.3 - 8 1348 c.1268A>C c.(1267-1269)cAc>cCc p.H423P NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 423 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 CCCGTCCCTGTGCTCTGCCTC 0.706000 OREG0025168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 105 0 0 0.006999 0 0 SON 6651 broad.mit.edu 37 21 34922480 34922480 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr21:34922480G>A ENST00000356577.4 + 3 1418 c.943G>A c.(943-945)Gag>Aag p.E315K SON_ENST00000300278.4_Missense_Mutation_p.E315K|SON_ENST00000381679.4_Missense_Mutation_p.E315K|SON_ENST00000290239.6_Missense_Mutation_p.E315K|SON_ENST00000381692.2_Intron NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 315 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 GACACCTACTGAGGTGTACCC 0.478000 OREG0003564 type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 62 0 0 0.004482 0 0 MFSD5 84975 broad.mit.edu 37 12 53647661 53647661 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:53647661C>T ENST00000534842.1 + 2 1510 c.1363C>T c.(1363-1365)Cta>Tta p.L455L MFSD5_ENST00000329548.4_Silent_p.L348L NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 348 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 CATAGCCTTTCTACTTATTGA 0.507000 18 83 0 0 0.007413 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118236285 118236285 + Silent SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:118236285T>C ENST00000369230.3 + 11 1440 c.1294T>C c.(1294-1296)Ttg>Ctg p.L432L NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 432 PLAT. lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) TCAGAATAAGTTGGGAGCAGA 0.308000 27 33 0 0 0.005443 0 0 PACRG 135138 broad.mit.edu 37 6 163235198 163235198 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:163235198C>A ENST00000337019.3 + 3 400 c.176C>A c.(175-177)gCa>gAa p.A59E PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366888.2_Missense_Mutation_p.A59E|PACRG_ENST00000366889.2_Missense_Mutation_p.A59E NM_152410.2 NP_689623.2 Q96M98 PACRG_HUMAN PARK2 co-regulated 59 endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) CCTCCAGCTGCAGGGGCATTT 0.378000 27 93 4.22769e-11 4.82747e-11 0.006320 1 0 ROM1 6094 broad.mit.edu 37 11 62381824 62381824 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:62381824C>A ENST00000278833.3 + 2 1226 c.685C>A c.(685-687)Cgt>Agt p.R229S ROM1_ENST00000534093.1_Silent_p.T19T NM_000327.3 NP_000318.1 Q03395 ROM1_HUMAN retinal outer segment membrane protein 1 229 R -> H. cell adhesion|visual perception integral to plasma membrane central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 8 CCTGCAAAACCGTCTTTCAGA 0.587000 19 69 7.07596e-05 7.46028e-05 0.006122 1 0 MPP3 4356 broad.mit.edu 37 17 41891569 41891569 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:41891569C>G ENST00000398393.1 - 13 1505 c.1245G>C c.(1243-1245)ctG>ctC p.L415L MPP3_ENST00000475450.1_5'UTR|MPP3_ENST00000398389.4_Silent_p.L390L Q13368 MPP3_HUMAN membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 390 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity p.L390L(1) endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) ACCTACCGATCAGAACCACCA 0.612000 40 176 0 0 0.006999 0 0 GHR 2690 broad.mit.edu 37 5 42718993 42718993 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:42718993G>A ENST00000230882.4 + 10 1574 c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K GHR_ENST00000537449.1_Missense_Mutation_p.E275K|GHR_ENST00000357703.3_Missense_Mutation_p.E440K NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 462 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ACTTCCTACTGAAGGAGCTGA 0.453000 18 75 0 0 0.006122 0 0 OR7D4 125958 broad.mit.edu 37 19 9324997 9324997 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:9324997C>T ENST00000308682.2 - 1 545 c.517G>A c.(517-519)Gag>Aag p.E173K NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E173K(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 TGCGGAATCTCAGTGCCTGTG 0.507000 15 58 0 0 0.003163 0 0 BRCA1 672 broad.mit.edu 37 17 41258529 41258529 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:41258529G>T ENST00000357654.3 - 4 274 c.156C>A c.(154-156)ctC>ctA p.L52L BRCA1_ENST00000351666.3_Silent_p.L52L|BRCA1_ENST00000471181.2_Silent_p.L52L|BRCA1_ENST00000346315.3_Silent_p.L52L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Silent_p.L52L|BRCA1_ENST00000468300.1_Silent_p.L52L|BRCA1_ENST00000354071.3_Silent_p.L52L|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000493795.1_Silent_p.L5L|BRCA1_ENST00000352993.3_Silent_p.L52L NM_007294.3 NP_009225.1 P38398 BRCA1_HUMAN breast cancer 1, early onset 52 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TCTTCTGGTTGAGAAGTTTCA 0.323000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 5 46 2.0095e-06 2.16711e-06 0.001984 1 0 CSPP1 79848 broad.mit.edu 37 8 68007596 68007596 + Silent SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:68007596A>T ENST00000262210.5 + 6 610 c.579A>T c.(577-579)acA>acT p.T193T CSPP1_ENST00000412460.1_5'UTR NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 228 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AAATACAGACATCTTGTGAAA 0.363000 13 69 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 9064992 9064992 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:9064992G>T ENST00000397910.4 - 3 22657 c.22454C>A c.(22453-22455)tCc>tAc p.S7485Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7487 Ser-rich.|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 TCCAGAACTGGAAGTTCCAAC 0.478000 23 52 7.87624e-14 9.21688e-14 0.002780 1 0 GPR116 221395 broad.mit.edu 37 6 46851846 46851846 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:46851846C>A ENST00000283296.7 - 5 779 c.491G>T c.(490-492)tGc>tTc p.C164F GPR116_ENST00000265417.7_Missense_Mutation_p.C164F|GPR116_ENST00000456426.2_Missense_Mutation_p.C164F|GPR116_ENST00000362015.4_Missense_Mutation_p.C164F NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 164 SEA. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CTGAAGCAGGCAAAAAGGTCC 0.478000 40 91 1.22674e-20 1.48833e-20 0.008740 1 0 C1orf85 112770 broad.mit.edu 37 1 156264242 156264242 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:156264242C>G ENST00000362007.1 - 3 519 c.493G>C c.(493-495)Gat>Cat p.D165H C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_Missense_Mutation_p.D79H NM_001256604.1|NM_001256609.1|NM_144580.2 NP_001243533.1|NP_001243538.1|NP_653181.1 Q8WWB7 NCUG1_HUMAN chromosome 1 open reading frame 85 165 positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3) 14 Hepatocellular(266;0.158) GTGGCAGGATCCAATGAATCA 0.532000 11 96 0 0 0.010729 0 0 NUP205 23165 broad.mit.edu 37 7 135304260 135304260 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:135304260C>G ENST00000285968.6 + 29 4079 c.4053C>G c.(4051-4053)ctC>ctG p.L1351L NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1351 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AGGCCGTCCTCACTGAACAGA 0.512000 25 35 0 0 0.003954 0 0 GLRB 2743 broad.mit.edu 37 4 158091631 158091631 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:158091631G>A ENST00000264428.4 + 10 1515 c.1245G>A c.(1243-1245)ctG>ctA p.L415L GLRB_ENST00000509282.1_Silent_p.L415L|GLRB_ENST00000512619.1_Silent_p.*57*|GLRB_ENST00000541722.1_3'UTR NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 415 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) AGTCTGATCTGAGATCTAATG 0.338000 48 38 0 0 0.014410 0 0 CTNNA3 29119 broad.mit.edu 37 10 68526048 68526048 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:68526048G>A ENST00000433211.1 - 9 1429 c.1255C>T c.(1255-1257)Cat>Tat p.H419Y CTNNA3_ENST00000373744.4_Missense_Mutation_p.H419Y|CTNNA3_ENST00000494580.1_5'UTR NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 419 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 GTGTGTTCATGAAATATCGCA 0.433000 12 116 0 0 0.002450 0 0 KCNT2 343450 broad.mit.edu 37 1 196395074 196395074 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:196395074C>A ENST00000367433.5 - 11 1130 c.1029G>T c.(1027-1029)caG>caT p.Q343H KCNT2_ENST00000294725.8_Missense_Mutation_p.Q343H|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q343H|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 343 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity p.Q343H(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CCCTTCGAACCTGTACATCCA 0.373000 16 73 6.49762e-13 7.53678e-13 0.006122 1 0 PARP6 56965 broad.mit.edu 37 15 72554009 72554009 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:72554009C>G ENST00000569795.1 - 9 1122 c.435G>C c.(433-435)ctG>ctC p.L145L PARP6_ENST00000260376.7_Silent_p.L145L|PARP6_ENST00000287196.9_Silent_p.L145L|PARP6_ENST00000413097.2_5'UTR Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 145 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 AATCATTGCTCAGATGTTTCC 0.458000 51 224 0 0 0.014410 0 0 SYNE1 23345 broad.mit.edu 37 6 152763354 152763354 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:152763354C>G ENST00000367255.5 - 31 4465 c.3864G>C c.(3862-3864)aaG>aaC p.K1288N SYNE1_ENST00000423061.1_Missense_Mutation_p.K1295N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1288N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1288N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K1288N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1295N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K1278N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1354N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1288 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CATCTCTCTTCTTTGCTGAGA 0.532000 HNSCC(10;0.0054) 11 76 0 0 0.010729 0 0 FXN 2395 broad.mit.edu 37 9 71687670 71687670 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:71687670G>C ENST00000377270.3 + 5 1149 c.625G>C c.(625-627)Gat>Cat p.D209H FXN_ENST00000396366.2_3'UTR|FXN_ENST00000498653.1_Missense_Mutation_p.D134H|FXN_ENST00000396364.3_Intron NM_000144.4 NP_000135.2 Q16595 FRDA_HUMAN frataxin 209 cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion cytosol|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding p.D209H(1) large_intestine(1)|lung(1) 2 TTCCGGAAAAGATGCTTGATG 0.498000 15 62 0 0 0.003163 0 0 ZNF547 284306 broad.mit.edu 37 19 57888907 57888907 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:57888907A>G ENST00000282282.3 + 4 713 c.563A>G c.(562-564)aAa>aGa p.K188R AC003002.4_ENST00000597658.1_Intron NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAGTGCAGCAAATGTGGGATA 0.413000 22 58 0 0 0.003330 0 0 IQSEC2 23096 broad.mit.edu 37 X 53284025 53284025 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:53284025A>T ENST00000396435.3 - 4 1288 c.1088T>A c.(1087-1089)aTg>aAg p.M363K IQSEC2_ENST00000375368.5_Missense_Mutation_p.M353K|IQSEC2_ENST00000375365.2_Missense_Mutation_p.M158K NM_001111125.2 NP_001104595.1 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 353 IQ. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1) 29 GTTCTTGTTCATGCGGTACTG 0.587000 5 19 0 0 0.001984 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32917434 32917434 + Silent SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:32917434A>T ENST00000361627.3 + 5 1427 c.705A>T c.(703-705)gcA>gcT p.A235A ARHGAP11A_ENST00000543522.1_Silent_p.A46A|ARHGAP11A_ENST00000563864.1_Silent_p.A235A|ARHGAP11A_ENST00000565905.1_Silent_p.A46A|ARHGAP11A_ENST00000567348.1_Silent_p.A235A NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 235 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TCGATTATGCATCAGATATTG 0.343000 8 19 0 0 0.003080 0 0 KIF1B 23095 broad.mit.edu 37 1 10327466 10327466 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:10327466G>C ENST00000377086.1 + 6 660 c.458G>C c.(457-459)aGa>aCa p.R153T KIF1B_ENST00000263934.6_Missense_Mutation_p.R153T|KIF1B_ENST00000377083.1_Missense_Mutation_p.R153T|KIF1B_ENST00000377081.1_Missense_Mutation_p.R153T|KIF1B_ENST00000377093.4_Missense_Mutation_p.R153T O60333 KIF1B_HUMAN kinesin family member 1B 153 Kinesin-motor. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TACTGTGAAAGAGTACGAGAT 0.433000 4 50 0 0 0.001168 0 0 STAG2 10735 broad.mit.edu 37 X 123190075 123190075 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:123190075C>G ENST00000371160.1 + 14 1584 c.1294C>G c.(1294-1296)Ctc>Gtc p.L432V STAG2_ENST00000218089.9_Missense_Mutation_p.L432V|STAG2_ENST00000371144.3_Missense_Mutation_p.L432V|STAG2_ENST00000371145.3_Missense_Mutation_p.L432V|STAG2_ENST00000371157.3_Missense_Mutation_p.L432V|STAG2_ENST00000354548.5_Missense_Mutation_p.L363V|STAG2_ENST00000469481.1_Intron Q8N3U4 STAG2_HUMAN stromal antigen 2 432 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding 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 TGGAGAATTTCTCTACAAAAA 0.328000 19 40 0 0 0.008871 0 0 OR7C2 26658 broad.mit.edu 37 19 15052879 15052879 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:15052879C>A ENST00000248072.3 + 1 579 c.579C>A c.(577-579)ttC>ttA p.F193L NM_012377.1 NP_036509.1 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, member 2 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(8)|ovary(2)|skin(2) 15 Ovarian(108;0.203) CTGACACCTTCATCAATAACA 0.428000 21 53 2.4624e-09 2.74988e-09 0.008871 1 0 PMPCA 23203 broad.mit.edu 37 9 139311650 139311650 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:139311650C>T ENST00000371717.3 + 7 890 c.881C>T c.(880-882)aCt>aTt p.T294I PMPCA_ENST00000399219.3_Missense_Mutation_p.T163I|PMPCA_ENST00000462616.1_3'UTR NM_015160.1 NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 294 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) GCCCAGTACACTGGGGGGATT 0.612000 11 23 0 0 0.008291 0 0 TRAV9-1 28678 broad.mit.edu 37 14 22280100 22280100 + RNA SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:22280100G>C ENST00000390431.3 + 0 289 CTTGGAGAAAGACTCAGTTCA 0.498000 4 43 0 0 0.009096 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427483 25427483 + RNA SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:25427483C>T ENST00000424208.1 + 0 272 NR_003305.1 GTGGTGAGCACATCCGGATCC 0.577000 14 90 0 0 0.001855 0 0 KLHL20 27252 broad.mit.edu 37 1 173703135 173703135 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:173703135G>T ENST00000209884.4 + 3 443 c.307G>T c.(307-309)Gag>Tag p.E103* KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron NM_014458.3 NP_055273.2 Q9Y2M5 KLH20_HUMAN kelch-like family member 20 103 BTB. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 AGAATTGGCAGAGAGCCGTCA 0.478000 8 77 4.68919e-08 5.14953e-08 0.008291 1 0 TCHH 7062 broad.mit.edu 37 1 152080014 152080014 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:152080014C>G ENST00000368804.1 - 2 5678 c.5679G>C c.(5677-5679)caG>caC p.Q1893H NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1893 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCGGTGCCTCTGTTCCTCCT 0.567000 7 170 0 0 0.003080 0 0 RAB11FIP3 9727 broad.mit.edu 37 16 532599 532599 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:532599G>A ENST00000262305.4 + 4 1366 c.978G>A c.(976-978)gaG>gaA p.E326E RAB11FIP3_ENST00000457159.1_Silent_p.E326E|RAB11FIP3_ENST00000450428.1_Silent_p.E30E NM_014700.3 NP_055515.1 O75154 RFIP3_HUMAN RAB11 family interacting protein 3 (class II) 326 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) TCACGGACGAGGACACCAGCA 0.652000 8 47 0 0 0.003080 0 0 PANK3 79646 broad.mit.edu 37 5 167993025 167993025 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:167993025C>A ENST00000239231.6 - 3 944 c.628G>T c.(628-630)Ggg>Tgg p.G210W PANK3_ENST00000520504.1_5'UTR NM_024594.3 NP_078870.1 Q9H999 PANK3_HUMAN pantothenate kinase 3 210 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) TACCTTGTCCCAGTCACTCGT 0.368000 46 80 8.72198e-27 1.09025e-26 0.014410 1 0 RBFOX1 54715 broad.mit.edu 37 16 7645563 7645563 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:7645563G>A ENST00000340209.4 + 5 793 c.496G>A c.(496-498)Gta>Ata p.V166I RBFOX1_ENST00000436368.2_Missense_Mutation_p.V181I|RBFOX1_ENST00000311745.5_Missense_Mutation_p.V181I|RBFOX1_ENST00000550418.1_Missense_Mutation_p.V161I|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V181I|RBFOX1_ENST00000547338.1_Missense_Mutation_p.V161I|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V204I|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V204I|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V161I|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V178I Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 161 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 ATTTGGTTTCGTAACTTTCGA 0.443000 30 163 0 0 0.010818 0 0 GANAB 23193 broad.mit.edu 37 11 62397071 62397071 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:62397071G>A ENST00000346178.4 - 16 1904 c.1889C>T c.(1888-1890)tCc>tTc p.S630F GANAB_ENST00000534779.1_Missense_Mutation_p.S516F|GANAB_ENST00000356638.3_Missense_Mutation_p.S608F|GANAB_ENST00000540933.1_Missense_Mutation_p.S511F NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 608 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 AAAGCGCTGGGAGCCAGCGAA 0.602000 7 26 0 0 0.004482 0 0 EXPH5 23086 broad.mit.edu 37 11 108385075 108385075 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:108385075C>G ENST00000265843.4 - 6 1269 c.1159G>C c.(1159-1161)Gag>Cag p.E387Q EXPH5_ENST00000443411.1_Missense_Mutation_p.E199Q|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.E380Q|EXPH5_ENST00000428840.1_Missense_Mutation_p.E311Q NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 387 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTCAGGAACTCTTCCTGGTTC 0.453000 12 244 0 0 0.002450 0 0 TSEN2 80746 broad.mit.edu 37 3 12531405 12531405 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:12531405G>C ENST00000444864.1 + 2 493 c.106G>C c.(106-108)Gaa>Caa p.E36Q TSEN2_ENST00000454502.2_Missense_Mutation_p.E36Q|TSEN2_ENST00000415684.1_Missense_Mutation_p.E36Q|TSEN2_ENST00000402228.3_Missense_Mutation_p.E36Q|TSEN2_ENST00000383797.5_Missense_Mutation_p.E36Q|TSEN2_ENST00000284995.6_Missense_Mutation_p.E36Q|TSEN2_ENST00000314571.7_Missense_Mutation_p.E36Q NM_001145395.1 NP_001138867.1 Q8NCE0 SEN2_HUMAN TSEN2 tRNA splicing endonuclease subunit 36 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7) 19 TCCTCTGAAAGAATTCAAGAT 0.448000 13 64 0 0 0.001855 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711819 155711819 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:155711819C>T ENST00000295101.2 + 3 1977 c.1500C>T c.(1498-1500)ttC>ttT p.F500F NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 500 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CTGATCGCTTCACATAACAAA 0.398000 7 17 0 0 0.001984 0 0 TXNDC2 84203 broad.mit.edu 37 18 9888081 9888081 + Silent SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:9888081T>C ENST00000306084.6 + 2 1804 c.1605T>C c.(1603-1605)gaT>gaC p.D535D TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.D468D NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 535 Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 AAAAGGTGGATGAACTTTGCG 0.433000 11 27 0 0 0.001855 0 0 AGXT2 64902 broad.mit.edu 37 5 35037091 35037091 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:35037091C>G ENST00000231420.6 - 4 642 c.442G>C c.(442-444)Gaa>Caa p.E148Q NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 148 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) TCTGCATATTCATGCATTGGA 0.488000 8 75 0 0 0.008291 0 0 SMC3 9126 broad.mit.edu 37 10 112341740 112341740 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:112341740C>G ENST00000361804.4 + 9 733 c.607C>G c.(607-609)Cta>Gta p.L203V SMC3_ENST00000462899.1_3'UTR NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 203 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) ATTACATACTCTAGAGGAAGA 0.378000 22 96 0 0 0.014323 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151214946 151214946 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:151214946C>G ENST00000409426.1 + 13 1952 c.1507C>G c.(1507-1509)Cag>Gag p.Q503E PIP5K1A_ENST00000368890.4_Missense_Mutation_p.Q453E|PIP5K1A_ENST00000414290.2_Intron|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.Q515E|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.Q475E Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 515 phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) TGTTTTACCTCAGACTCCACC 0.453000 10 132 0 0 0.006214 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184802 130184802 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:130184802C>T ENST00000422113.2 - 2 847 c.521G>A c.(520-522)cGa>cAa p.R174Q NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 174 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCGGGTCTCTCGGAAAGCAAA 0.682000 4 19 0 0 0.009096 0 0 SYNE1 23345 broad.mit.edu 37 6 152668219 152668219 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:152668219G>A ENST00000367255.5 - 73 12654 c.12053C>T c.(12052-12054)tCa>tTa p.S4018L SYNE1_ENST00000423061.1_Missense_Mutation_p.S3947L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4018L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S3947L|SYNE1_ENST00000341594.5_Intron NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4018 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCAGATCGCTGAGTAGCTGTC 0.488000 HNSCC(10;0.0054) 8 52 0 0 0.003080 0 0 MTR 4548 broad.mit.edu 37 1 237057700 237057700 + Nonsense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:237057700C>G ENST00000366577.5 + 30 3642 c.3248C>G c.(3247-3249)tCa>tGa p.S1083* MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Nonsense_Mutation_p.S1032* NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 1083 AdoMet activation. 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) TACTGCCTCTCAGACTTCATC 0.572000 8 77 0 0 0.006214 0 0 BTBD9 114781 broad.mit.edu 37 6 38545402 38545402 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:38545402T>A ENST00000481247.1 - 6 1279 c.1128A>T c.(1126-1128)aaA>aaT p.K376N BTBD9_ENST00000314100.6_Missense_Mutation_p.K308N|BTBD9_ENST00000403056.1_Missense_Mutation_p.K376N|BTBD9_ENST00000419706.2_Missense_Mutation_p.K317N|BTBD9_ENST00000408958.1_Missense_Mutation_p.K308N NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 376 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 GAAAATATAATTTCTGCCAAG 0.368000 18 79 0 0 0.008871 0 0 CST1 1469 broad.mit.edu 37 20 23729677 23729677 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:23729677G>A ENST00000304749.2 - 2 388 c.318C>T c.(316-318)ttC>ttT p.F106F CST1_ENST00000398402.1_Silent_p.F106F NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 106 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) GCTGTTCATGGAAGGCACAGG 0.577000 53 60 0 0 0.014410 0 0 ITGA2 3673 broad.mit.edu 37 5 52362956 52362956 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:52362956G>C ENST00000296585.5 + 16 2095 c.1952G>C c.(1951-1953)aGt>aCt p.S651T NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 651 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) AGGTCACAAAGTATTGCTGAT 0.373000 9 46 0 0 0.006214 0 0 OTOGL 283310 broad.mit.edu 37 12 80655772 80655772 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:80655772G>C ENST00000458043.2 + 18 1892 c.1886G>C c.(1885-1887)gGt>gCt p.G629A OTOGL_ENST00000547103.1_Missense_Mutation_p.G629A NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATGATAGAAGGTACACCACAA 0.403000 26 29 0 0 0.006320 0 0 CCDC181 57821 broad.mit.edu 37 1 169394108 169394108 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:169394108C>G ENST00000545005.1 - 3 565 c.58G>C c.(58-60)Gaa>Caa p.E20Q CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.E20Q|CCDC181_ENST00000367806.3_Missense_Mutation_p.E20Q coiled-coil domain containing 181 AGGTCCTTTTCAAAGTCATCT 0.279000 9 75 0 0 0.006214 0 0 FAM179B 23116 broad.mit.edu 37 14 45431916 45431916 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:45431916C>G ENST00000361462.2 + 1 475 c.292C>G c.(292-294)Cgg>Ggg p.R98G FAM179B_ENST00000382233.2_Missense_Mutation_p.R98G|FAM179B_ENST00000361577.3_Missense_Mutation_p.R98G Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 98 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 AGAGGACACTCGGCTCCTTCA 0.642000 7 116 0 0 0.001984 0 0 ZNF223 7766 broad.mit.edu 37 19 44570525 44570525 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:44570525G>T ENST00000591793.1 + 7 957 c.874G>T c.(874-876)Gga>Tga p.G292* ZNF223_ENST00000434772.3_Nonsense_Mutation_p.G182* Q9UK11 ZN223_HUMAN zinc finger protein 223 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G182*(1) endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) TGATGAGTGTGGAAAAAGCTT 0.428000 44 117 1.67753e-36 2.13739e-36 0.014410 1 0 LIFR 3977 broad.mit.edu 37 5 38510737 38510737 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:38510737G>C ENST00000263409.4 - 7 982 c.820C>G c.(820-822)Caa>Gaa p.Q274E LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.Q274E NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 274 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ACTTTTTCTTGACTCACACAA 0.378000 T PLAG1 salivary adenoma 10 54 0 0 0.008291 0 0 SPECC1 92521 broad.mit.edu 37 17 20108581 20108581 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:20108581G>T ENST00000395530.2 + 2 1184 c.976G>T c.(976-978)Gaa>Taa p.E326* SPECC1_ENST00000395525.3_Nonsense_Mutation_p.E326*|SPECC1_ENST00000261503.5_Nonsense_Mutation_p.E407*|SPECC1_ENST00000395522.2_Nonsense_Mutation_p.E326*|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Nonsense_Mutation_p.E407*|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395529.3_Nonsense_Mutation_p.E407*|SPECC1_ENST00000472876.1_Intron NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 407 Ser-rich. nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) AATGGTACAGGAATTGACAGC 0.418000 14 53 0.00244969 0.00251838 0.002450 1 0 CCBL1 883 broad.mit.edu 37 9 131600361 131600361 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:131600361C>A ENST00000436267.2 - 7 838 c.689G>T c.(688-690)gGg>gTg p.G230V CCBL1_ENST00000320665.6_Missense_Mutation_p.G86V|CCBL1_ENST00000302586.3_Missense_Mutation_p.G136V|CCBL1_ENST00000483599.1_5'UTR Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic 136 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) AGGACGACCCCCTGCCATCAT 0.547000 68 117 1.7488e-33 2.21112e-33 0.014410 1 0 CUL7 9820 broad.mit.edu 37 6 43019473 43019473 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:43019473C>G ENST00000535468.1 - 3 947 c.861G>C c.(859-861)ctG>ctC p.L287L CUL7_ENST00000265348.3_Silent_p.L203L NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 203 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CTTGTTGGCTCAGTGACAGAA 0.512000 12 164 0 0 0.001855 0 0 SBF2 81846 broad.mit.edu 37 11 9810801 9810801 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:9810801C>G ENST00000256190.8 - 35 4924 c.4787G>C c.(4786-4788)tGg>tCg p.W1596S SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000534671.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1596 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TAGCATCATCCAGTCATAGGA 0.517000 11 90 0 0 0.013537 0 0 CAST 831 broad.mit.edu 37 5 96093323 96093323 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:96093323G>A ENST00000395813.1 + 24 1984 c.1798G>A c.(1798-1800)Gag>Aag p.E600K CAST_ENST00000359176.4_Missense_Mutation_p.E581K|CAST_ENST00000511782.1_Missense_Mutation_p.E503K|CAST_ENST00000515663.1_Missense_Mutation_p.E240K|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000511049.1_Missense_Mutation_p.E503K|CAST_ENST00000309190.5_Missense_Mutation_p.E495K|CAST_ENST00000508608.1_Missense_Mutation_p.E563K|CAST_ENST00000509903.1_Missense_Mutation_p.E482K|CAST_ENST00000508830.1_Missense_Mutation_p.E600K|CAST_ENST00000338252.3_Missense_Mutation_p.E504K|CAST_ENST00000341926.3_Missense_Mutation_p.E517K|CAST_ENST00000395812.2_Missense_Mutation_p.E559K|CAST_ENST00000508579.1_Missense_Mutation_p.E232K|CAST_ENST00000504465.1_Missense_Mutation_p.E445K|CAST_ENST00000510756.1_Missense_Mutation_p.E578K|CAST_ENST00000325674.7_Missense_Mutation_p.E565K P20810 ICAL_HUMAN calpastatin 517 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) TGCTTTGTCTGAGGACTTCTC 0.383000 12 59 0 0 0.001855 0 0 EMR2 30817 broad.mit.edu 37 19 14876338 14876338 + Nonsense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:14876338G>A ENST00000315576.3 - 9 1277 c.826C>T c.(826-828)Cag>Tag p.Q276* EMR2_ENST00000594076.1_Nonsense_Mutation_p.Q183*|EMR2_ENST00000353005.1_Nonsense_Mutation_p.Q134*|EMR2_ENST00000595839.1_Nonsense_Mutation_p.Q134*|EMR2_ENST00000596991.2_Nonsense_Mutation_p.Q276*|EMR2_ENST00000594294.1_Nonsense_Mutation_p.Q227*|EMR2_ENST00000601345.1_Nonsense_Mutation_p.Q276*|EMR2_ENST00000392965.3_Nonsense_Mutation_p.Q276*|EMR2_ENST00000392967.2_Nonsense_Mutation_p.Q276*|EMR2_ENST00000392964.3_Nonsense_Mutation_p.Q15*|EMR2_ENST00000353876.1_Nonsense_Mutation_p.Q183*|EMR2_ENST00000346057.1_Nonsense_Mutation_p.Q227* NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 276 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 CCACTCACCTGGCTGTGGACT 0.612000 4 22 0 0 0.001168 0 0 RYR2 6262 broad.mit.edu 37 1 237660045 237660045 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:237660045C>G ENST00000366574.2 + 20 2513 c.2196C>G c.(2194-2196)ctC>ctG p.L732L RYR2_ENST00000360064.6_Silent_p.L730L|RYR2_ENST00000542537.1_Silent_p.L716L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 732 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCTTCATCTCTGGTCAGGTA 0.473000 25 155 0 0 0.005443 0 0 ZNF562 54811 broad.mit.edu 37 19 9763741 9763741 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:9763741G>C ENST00000448622.1 - 6 1327 c.1165C>G c.(1165-1167)Caa>Gaa p.Q389E ZNF562_ENST00000453792.2_Missense_Mutation_p.Q320E|ZNF562_ENST00000453372.2_Missense_Mutation_p.Q389E|ZNF562_ENST00000537617.1_Missense_Mutation_p.Q273E|ZNF562_ENST00000293648.4_Missense_Mutation_p.Q317E|ZNF562_ENST00000541032.1_Missense_Mutation_p.Q352E|ZNF562_ENST00000590155.1_Missense_Mutation_p.Q388E NM_001130031.1|NM_001130032.1 NP_001123503.1|NP_001123504.1 Q6V9R5 ZN562_HUMAN zinc finger protein 562 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 17 CTTCTATGTTGAGTAAGCGTT 0.408000 13 45 0 0 0.013537 0 0 TTN 7273 broad.mit.edu 37 2 179433143 179433143 + Missense_Mutation SNP C C T rs56341835 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:179433143C>T ENST00000589042.1 - 326 77940 c.77716G>A c.(77716-77718)Gaa>Aaa p.E25906K TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16966K|TTN_ENST00000342992.6_Missense_Mutation_p.E23338K|TTN_ENST00000342175.6_Missense_Mutation_p.E17033K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24265K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E16841K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24265 Fibronectin type-III 88. 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) GTAATACTTTCAGCACTGACG 0.408000 4 21 0 0 0.000602 0 0 DNM1P46 196968 broad.mit.edu 37 15 100340366 100340366 + RNA SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:100340366G>T ENST00000341853.1 - 0 560 NR_003260.1 TCGTCGCGCCGCTGTGCCTAC 0.607000 7 12 0.000157383 0.000164878 0.003080 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140736861 140736861 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:140736861C>T ENST00000571252.1 + 1 2094 c.2094C>T c.(2092-2094)gcC>gcT p.A698A PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCAGTGGCCGCTGTCTCCT 0.607000 16 29 0 0 0.007413 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826425 43826425 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:43826425C>A ENST00000389420.3 - 20 2909 c.2910G>T c.(2908-2910)tgG>tgT p.W970C ADAMTS20_ENST00000395541.2_Missense_Mutation_p.W124C|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.W970C NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 970 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTGAATAATGCCATCTTGTGA 0.368000 16 21 9.16793e-09 1.01354e-08 0.004990 1 0 YY2 404281 broad.mit.edu 37 X 21875591 21875591 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:21875591C>G ENST00000429584.2 + 1 1487 c.989C>G c.(988-990)aCa>aGa p.T330R MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 330 Mediates transcriptional repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding p.T330I(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 AATTTGCGCACACACTTGCGC 0.527000 54 263 0 0 0.014410 0 0 TENC1 23371 broad.mit.edu 37 12 53457028 53457028 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:53457028G>A ENST00000314250.6 + 26 4269 c.3979G>A c.(3979-3981)Gac>Aac p.D1327N TENC1_ENST00000549700.1_Missense_Mutation_p.D1262N|TENC1_ENST00000546602.1_Missense_Mutation_p.D1230N|TENC1_ENST00000379902.3_Missense_Mutation_p.D1203N|TENC1_ENST00000552570.1_Missense_Mutation_p.D1325N|TENC1_ENST00000314276.3_Missense_Mutation_p.D1337N|TENC1_ENST00000451358.1_Missense_Mutation_p.D1317N NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 1327 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 TACACTGACGGACAACCAAAG 0.582000 18 55 0 0 0.008871 0 0 RPS4X 6191 broad.mit.edu 37 X 71496038 71496038 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:71496038T>C ENST00000316084.6 - 2 154 c.50A>G c.(49-51)cAt>cGt p.H17R RPS4X_ENST00000373626.3_Missense_Mutation_p.H17R|RPS4X_ENST00000486733.1_5'UTR NM_001007.4 NP_000998.1 P62701 RS4X_HUMAN ribosomal protein S4, X-linked 17 endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome NS(1)|large_intestine(1) 2 Renal(35;0.156) CAGCATCCAATGCTTTGGAGC 0.428000 3 36 0 0 0.000602 0 0 TNFRSF13C 115650 broad.mit.edu 37 22 42321413 42321413 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:42321413A>G ENST00000291232.3 - 3 557 c.513T>C c.(511-513)acT>acC p.T171T NM_052945.3 NP_443177.1 Q96RJ3 TR13C_HUMAN tumor necrosis factor receptor superfamily, member 13C 171 integral to membrane receptor activity lung(2)|urinary_tract(1) 3 TCACCAGTTCAGTGGAGCCCA 0.677000 19 24 0 0 0.014323 0 0 SPAG4 6676 broad.mit.edu 37 20 34207574 34207574 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:34207574G>A ENST00000374273.3 + 10 1095 c.983G>A c.(982-984)cGa>cAa p.R328Q NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 328 SUN. spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) CTGCCGGGCCGAGTGCAGCTG 0.652000 16 50 0 0 0.004007 0 0 LRP12 29967 broad.mit.edu 37 8 105510107 105510107 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:105510107G>A ENST00000276654.5 - 5 781 c.673C>T c.(673-675)Cgt>Tgt p.R225C LRP12_ENST00000424843.2_Missense_Mutation_p.R206C NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 225 LDL-receptor class A 2. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding p.R225S(1) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TTGGTAAAACGGGATAAACAC 0.448000 45 96 0 0 0.014410 0 0 MDGA1 266727 broad.mit.edu 37 6 37622594 37622594 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:37622594G>A ENST00000434837.2 - 5 1872 c.694C>T c.(694-696)Cgg>Tgg p.R232W MDGA1_ENST00000505425.1_Missense_Mutation_p.R232W|MDGA1_ENST00000297153.7_Missense_Mutation_p.R232W NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 232 brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 TTGGTGAGCCGGAAGGTGATG 0.592000 58 153 0 0 0.014410 0 0 KLF5 688 broad.mit.edu 37 13 73636220 73636220 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr13:73636220C>G ENST00000377687.4 + 2 1019 c.483C>G c.(481-483)atC>atG p.I161M KLF5_ENST00000539231.1_Missense_Mutation_p.I70M|KLF5_ENST00000477333.1_3'UTR NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 161 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) TAACACACATCAAGACAGAAC 0.527000 8 91 0 0 0.003080 0 0 KIFC1 3833 broad.mit.edu 37 6 33373380 33373380 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:33373380G>A ENST00000428849.2 + 7 1958 c.1508G>A c.(1507-1509)cGa>cAa p.R503Q NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 503 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 ACCAATGCTCGATATGTCCCT 0.612000 6 26 0 0 0.001168 0 0 MYB 4602 broad.mit.edu 37 6 135511330 135511330 + Silent SNP G G T rs139729764 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:135511330G>T ENST00000341911.5 + 5 571 c.372G>T c.(370-372)ggG>ggT p.G124G MYB_ENST00000367814.4_Silent_p.G124G|MYB_ENST00000525369.1_Silent_p.G124G|MYB_ENST00000534044.1_Silent_p.G124G|MYB_ENST00000528774.1_Silent_p.G124G|MYB_ENST00000442647.2_Silent_p.G124G|MYB_ENST00000533624.1_Silent_p.G124G|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Silent_p.G124G|MYB_ENST00000420123.2_Silent_p.G100G|MYB_ENST00000316528.8_Silent_p.G124G|MYB_ENST00000527615.1_Silent_p.G124G NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 124 HTH myb-type 2.|Interaction with HIPK2 and NLK (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) ACTTAAAGGGGAGAATTGGAA 0.398000 T NFIB adenoid cystic carcinoma 7 92 5.18039e-06 5.55944e-06 0.003080 1 0 TGFB1I1 7041 broad.mit.edu 37 16 31488304 31488304 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:31488304C>G ENST00000394863.3 + 10 1222 c.1092C>G c.(1090-1092)ctC>ctG p.L364L TGFB1I1_ENST00000567607.1_Silent_p.L347L|TGFB1I1_ENST00000394858.2_Silent_p.L347L|TGFB1I1_ENST00000361773.3_Silent_p.L347L NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 364 LIM zinc-binding 3. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 TCAGCGCGCTCTGGCACCCGG 0.716000 3 8 0 0 0.004672 0 0 GATA5 140628 broad.mit.edu 37 20 61048574 61048574 + Missense_Mutation SNP A A C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:61048574A>C ENST00000252997.2 - 3 645 c.584T>G c.(583-585)cTg>cGg p.L195R NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 195 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) CGGTGTGGACAGGGCCCCGCA 0.672000 3 5 0 0 0.009096 0 0 TPX2 22974 broad.mit.edu 37 20 30345357 30345357 + Silent SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:30345357A>T ENST00000340513.4 + 3 606 c.78A>T c.(76-78)ggA>ggT p.G26G TPX2_ENST00000300403.6_Silent_p.G26G Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 26 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) ATGATGAAGGAGATACTCAAA 0.393000 27 41 0 0 0.006320 0 0 NEGR1 257194 broad.mit.edu 37 1 71873215 71873215 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:71873215C>T ENST00000357731.4 - 7 1218 c.979G>A c.(979-981)Gat>Aat p.D327N NEGR1_ENST00000434200.1_Missense_Mutation_p.D281N|NEGR1_ENST00000306821.3_Missense_Mutation_p.D199N|ZRANB2-AS2_ENST00000430605.1_RNA NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 327 cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) AAAAGAACATCAGCGCTCCCG 0.403000 10 36 0 0 0.010729 0 0 VAX2 25806 broad.mit.edu 37 2 71160154 71160154 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:71160154G>A ENST00000234392.2 + 3 725 c.693G>A c.(691-693)ccG>ccA p.P231P NM_012476.2 NP_036608.1 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 231 ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 7 GCCTCAACCCGCTGTCCTCGG 0.692000 16 41 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179456184 179456184 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:179456184C>A ENST00000589042.1 - 304 60492 c.60268G>T c.(60268-60270)Gta>Tta p.V20090L TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V11150L|TTN_ENST00000342992.6_Missense_Mutation_p.V17522L|TTN_ENST00000342175.6_Missense_Mutation_p.V11217L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V18449L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V11025L|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18449 Fibronectin type-III 45. 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) CCAGCCTTTACCACAAGACCT 0.393000 81 174 7.3878e-23 9.07998e-23 0.014410 1 0 MAP3K7 6885 broad.mit.edu 37 6 91281451 91281451 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:91281451C>G ENST00000369329.3 - 2 357 c.196G>C c.(196-198)Gaa>Caa p.E66Q MAP3K7_ENST00000369332.3_Missense_Mutation_p.E66Q|MAP3K7_ENST00000369325.3_Missense_Mutation_p.E66Q|MAP3K7_ENST00000369327.3_Missense_Mutation_p.E66Q NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 66 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GATTCACTTTCTATTTGTTTA 0.333000 8 57 0 0 0.008291 0 0 PTX3 5806 broad.mit.edu 37 3 157160592 157160592 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:157160592G>C ENST00000295927.3 + 3 1115 c.970G>C c.(970-972)Gat>Cat p.D324H VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron NM_002852.3 NP_002843.2 P26022 PTX3_HUMAN pentraxin 3, long 324 Pentaxin. inflammatory response extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1) 10 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TGGTGGCTTTGATGAAACATT 0.493000 10 88 0 0 0.008291 0 0 CDS2 8760 broad.mit.edu 37 20 5170746 5170746 + Splice_Site SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:5170746A>G ENST00000460006.1 + 13 1512 c.e13-1 CDS2_ENST00000379062.4_Splice_Site|CDS2_ENST00000535100.1_Splice_Site|CDS2_ENST00000379070.3_Splice_Site NM_003818.3 NP_003809.1 O95674 CDS2_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 ATTCTGTTCCAGAGGCCCTAA 0.512000 22 28 0 0 0.014323 0 0 NELL1 4745 broad.mit.edu 37 11 21594939 21594939 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:21594939C>A ENST00000298925.5 + 20 2603 c.2450C>A c.(2449-2451)aCa>aAa p.T817K NELL1_ENST00000357134.5_Missense_Mutation_p.T789K|NELL1_ENST00000325319.5_Missense_Mutation_p.T732K|NELL1_ENST00000532434.1_Missense_Mutation_p.T742K|NELL1_ENST00000529218.1_3'UTR Q92832 NELL1_HUMAN NEL-like 1 (chicken) 789 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TCTCCCTGCACAACCTGTAAA 0.468000 29 71 3.73148e-12 4.29055e-12 0.007291 1 0 FIBP 9158 broad.mit.edu 37 11 65655442 65655442 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:65655442G>T ENST00000338369.2 - 2 359 c.247C>A c.(247-249)Cag>Aag p.Q83K FIBP_ENST00000533045.1_Missense_Mutation_p.Q80K|FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Missense_Mutation_p.Q83K NM_198897.1 NP_942600.1 O43427 FIBP_HUMAN fibroblast growth factor (acidic) intracellular binding protein 83 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 10 READ - Rectum adenocarcinoma(159;0.166) GGCGGAATCTGGAAGATGAGC 0.597000 7 25 0.000442599 0.000461478 0.006214 1 0 GLI1 2735 broad.mit.edu 37 12 57863408 57863408 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:57863408C>G ENST00000228682.2 + 11 1594 c.1503C>G c.(1501-1503)ctC>ctG p.L501L GLI1_ENST00000543426.1_Silent_p.L373L|GLI1_ENST00000546141.1_Silent_p.L460L NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 501 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding p.L501L(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) TTGAGAACCTCAGGCTGGACC 0.617000 19 58 0 0 0.008871 0 0 LRRC2 79442 broad.mit.edu 37 3 46574379 46574379 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:46574379C>G ENST00000395905.3 - 5 903 c.511G>C c.(511-513)Gaa>Caa p.E171Q LRRC2_ENST00000296144.3_Missense_Mutation_p.E171Q NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 171 p.E171*(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) ACATTGAGTTCTTTCAGGTTC 0.348000 17 78 0 0 0.008871 0 0 ORAI1 84876 broad.mit.edu 37 12 122064796 122064796 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:122064796C>G ENST00000330079.7 + 1 342 c.149C>G c.(148-150)tCc>tGc p.S50C NM_032790.3 NP_116179.2 Q96D31 CRCM1_HUMAN ORAI calcium release-activated calcium modulator 1 48 platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) ccgccgccgtccgccgtcacc 0.741000 5 16 0 0 0.000602 0 0 STK25 10494 broad.mit.edu 37 2 242438131 242438131 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:242438131G>C ENST00000316586.4 - 8 1189 c.840C>G c.(838-840)ctC>ctG p.L280L STK25_ENST00000403346.3_Silent_p.L280L|STK25_ENST00000543554.1_Silent_p.L186L|STK25_ENST00000535007.1_Silent_p.L186L|STK25_ENST00000405585.1_Silent_p.L203L|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405883.3_Silent_p.L203L|STK25_ENST00000401869.1_Silent_p.L280L NM_001271977.1|NM_001271978.1 NP_001258906.1|NP_001258907.1 O00506 STK25_HUMAN serine/threonine kinase 25 280 response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 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;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) TGAGCTCCGTGAGGAAGGAGG 0.577000 15 59 0 0 0.006122 0 0 SI 6476 broad.mit.edu 37 3 164793764 164793764 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:164793764G>A ENST00000264382.3 - 2 99 c.37C>T c.(37-39)Ctg>Ttg p.L13L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 13 carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AGGACAATCAGAGAGATTTCC 0.279000 HNSCC(35;0.089) 12 72 0 0 0.013537 0 0 KIF2A 3796 broad.mit.edu 37 5 61651013 61651013 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:61651013G>A ENST00000381103.2 + 8 1011 c.526G>A c.(526-528)Gaa>Aaa p.E176K KIF2A_ENST00000506857.1_Missense_Mutation_p.E150K|KIF2A_ENST00000401507.3_Missense_Mutation_p.E196K|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.E196K NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 196 Globular (Potential). blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) CCCAAATTATGAAATTATGTG 0.299000 17 54 0 0 0.008871 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84518384 84518384 + RNA SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:84518384G>C ENST00000331369.5 + 0 578 CTTTCTGCTTGGCATGGCATC 0.468000 45 102 0 0 0.014410 0 0 ZNF483 158399 broad.mit.edu 37 9 114304757 114304757 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:114304757G>C ENST00000309235.5 + 6 1700 c.1542G>C c.(1540-1542)caG>caC p.Q514H ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 514 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 TTAAACATCAGAGAATTCATA 0.408000 16 55 0 0 0.004007 0 0 MLXIP 22877 broad.mit.edu 37 12 122623049 122623049 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:122623049G>A ENST00000319080.6 + 14 2467 c.2335G>A c.(2335-2337)Gag>Aag p.E779K MLXIP_ENST00000538698.1_Missense_Mutation_p.E386K Q9HAP2 MLXIP_HUMAN MLX interacting protein 779 Leucine-zipper. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GATGCAGGAGGAGGCCCGGCG 0.627000 8 21 0 0 0.003080 0 0 BBOX1 8424 broad.mit.edu 37 11 27141315 27141315 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:27141315C>T ENST00000263182.3 + 7 1127 c.759C>T c.(757-759)tcC>tcT p.S253S BBOX1_ENST00000525090.1_Silent_p.S253S|BBOX1_ENST00000527505.1_3'UTR|RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000529202.1_Silent_p.S253S|BBOX1_ENST00000528583.1_Silent_p.S253S|RP11-1L12.3_ENST00000526061.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 253 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) AGATTTTGTCCTCTACCTTTG 0.333000 13 42 0 0 0.002450 0 0 NEB 4703 broad.mit.edu 37 2 152500536 152500536 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:152500536C>T ENST00000397345.3 - 57 7954 c.7752G>A c.(7750-7752)caG>caA p.Q2584Q NEB_ENST00000409198.1_Silent_p.Q2584Q|NEB_ENST00000172853.10_Silent_p.Q2584Q|NEB_ENST00000603639.1_Silent_p.Q2584Q|NEB_ENST00000604864.1_Silent_p.Q2584Q|NEB_ENST00000427231.2_Silent_p.Q2584Q NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2584 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CCCTGTCACTCTGGATCTTGG 0.542000 140 292 0 0 0.014410 0 0 STT3A 3703 broad.mit.edu 37 11 125483032 125483032 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:125483032T>A ENST00000392708.4 + 13 1673 c.1514T>A c.(1513-1515)tTc>tAc p.F505Y STT3A_ENST00000529196.1_Missense_Mutation_p.F505Y|STT3A_ENST00000531491.1_Missense_Mutation_p.F413Y NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 505 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TTTGATGACTTCCGAGAAGCA 0.483000 39 33 0 0 0.011902 0 0 PLA2R1 22925 broad.mit.edu 37 2 160901621 160901621 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:160901621G>C ENST00000283243.7 - 2 363 c.157C>G c.(157-159)Caa>Gaa p.Q53E PLA2R1_ENST00000392771.1_Missense_Mutation_p.Q53E NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 53 Ricin B-type lectin. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TTACCTGCTTGAATGCATTTC 0.378000 7 49 0 0 0.003080 0 0 PACSIN2 11252 broad.mit.edu 37 22 43287087 43287087 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:43287087C>T ENST00000263246.3 - 4 520 c.319G>A c.(319-321)Gat>Aat p.D107N PACSIN2_ENST00000402229.1_Missense_Mutation_p.D107N|PACSIN2_ENST00000403744.3_Missense_Mutation_p.D107N|PACSIN2_ENST00000337959.4_Missense_Mutation_p.D107N|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000407585.1_Missense_Mutation_p.D107N NM_001184970.1 NP_001171899.1 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in neurons 2 107 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) TCGAAGTCATCGTTCATCAGT 0.572000 11 41 0 0 0.013537 0 0 LPHN3 23284 broad.mit.edu 37 4 62845391 62845391 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:62845391G>T ENST00000512091.1 + 17 3459 c.2712G>T c.(2710-2712)ggG>ggT p.G904G LPHN3_ENST00000506720.1_Silent_p.G972G|LPHN3_ENST00000506700.1_Silent_p.G904G|LPHN3_ENST00000509896.1_Silent_p.G972G|LPHN3_ENST00000506746.1_Silent_p.G972G|LPHN3_ENST00000508693.1_Silent_p.G972G|LPHN3_ENST00000507164.1_Silent_p.G972G|LPHN3_ENST00000545650.1_Silent_p.G904G|LPHN3_ENST00000511324.1_Silent_p.G972G|LPHN3_ENST00000514996.1_Silent_p.G904G|LPHN3_ENST00000514591.1_Silent_p.G904G|LPHN3_ENST00000508946.1_Silent_p.G904G|LPHN3_ENST00000504896.1_Silent_p.G904G|LPHN3_ENST00000514157.1_Silent_p.G904G|LPHN3_ENST00000507625.1_Silent_p.G972G Q9HAR2 LPHN3_HUMAN latrophilin 3 891 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TTTTCCGGGGGCTCCAGAGTG 0.498000 72 85 3.41413e-29 4.29205e-29 0.014410 1 0 HBD 3045 broad.mit.edu 37 11 5254244 5254244 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:5254244G>C ENST00000380299.3 - 3 608 c.394C>G c.(394-396)Cag>Gag p.Q132E HBD_ENST00000292901.3_Intron NM_000519.3 NP_000510.1 P02042 HBD_HUMAN hemoglobin, delta 132 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCACCTTCTGATAGGCAGCC 0.522000 16 79 0 0 0.003163 0 0 GPR112 139378 broad.mit.edu 37 X 135429886 135429886 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:135429886C>T ENST00000394143.1 + 6 4312 c.4021C>T c.(4021-4023)Cca>Tca p.P1341S GPR112_ENST00000412101.1_Missense_Mutation_p.P1136S|GPR112_ENST00000394141.1_Missense_Mutation_p.P1136S|GPR112_ENST00000287534.4_Missense_Mutation_p.P1278S|GPR112_ENST00000370652.1_Missense_Mutation_p.P1341S NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1341 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACAGATTACACCAACCTTGAC 0.473000 38 45 0 0 0.005524 0 0 MS4A6A 64231 broad.mit.edu 37 11 59940556 59940556 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:59940556A>G ENST00000528851.1 - 6 736 c.596T>C c.(595-597)cTa>cCa p.L199P MS4A6A_ENST00000412309.2_Missense_Mutation_p.L227P|MS4A6A_ENST00000529054.1_Missense_Mutation_p.L227P|MS4A6A_ENST00000323961.3_Missense_Mutation_p.L199P|MS4A6A_ENST00000426738.2_Missense_Mutation_p.L154P|MS4A6A_ENST00000420732.2_Silent_p.P164P|MS4A6A_ENST00000530839.1_Missense_Mutation_p.L199P|MS4A6A_ENST00000533023.1_Silent_p.P100P Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 199 integral to membrane receptor activity endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAGCACAGCTAGGCAGAATTC 0.488000 26 80 0 0 0.009535 0 0 HS3ST1 9957 broad.mit.edu 37 4 11400759 11400759 + Nonsense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:11400759C>A ENST00000002596.5 - 2 2045 c.871G>T c.(871-873)Gag>Tag p.E291* NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 291 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 TTATTTGGCTCATGAAAATAT 0.488000 41 105 8.01111e-26 9.9761e-26 0.010771 1 0 KRT16P6 353194 broad.mit.edu 37 17 16723374 16723374 + RNA SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:16723374G>A ENST00000417510.1 - 0 745 CATTGATGTCGGCCCCCACAC 0.567000 5 68 0 0 0.001168 0 0 EGR2 1959 broad.mit.edu 37 10 64573000 64573000 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:64573000G>A ENST00000242480.3 - 2 1723 c.1398C>T c.(1396-1398)ctC>ctT p.L466L EGR2_ENST00000411732.1_Silent_p.L416L|EGR2_ENST00000439032.1_Silent_p.L466L NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 466 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) AGCAAGGGGCGAGCGGCCCTC 0.652000 17 73 0 0 0.004990 0 0 C1orf192 257177 broad.mit.edu 37 1 161334856 161334856 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:161334856G>C ENST00000367974.1 - 5 438 c.433C>G c.(433-435)Cca>Gca p.P145A NM_001013625.2 NP_001013647.2 Q5VTH2 CA192_HUMAN chromosome 1 open reading frame 192 145 endometrium(1)|large_intestine(3)|lung(5)|prostate(1) 10 all_cancers(52;4.64e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) GGGGAGCTTGGAATTATGGTT 0.488000 21 140 0 0 0.008871 0 0 KLHL34 257240 broad.mit.edu 37 X 21674331 21674331 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:21674331C>A ENST00000379499.2 - 1 2117 c.1576G>T c.(1576-1578)Ggc>Tgc p.G526C NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 526 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 AACACAGCGCCGCGCAGCACT 0.647000 3 5 6.4e-05 6.7584e-05 0.004672 1 0 OR11G2 390439 broad.mit.edu 37 14 20665870 20665870 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:20665870G>C ENST00000357366.3 + 1 376 c.376G>C c.(376-378)Gac>Cac p.D126H NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CTTCCTCTCTGACACCAAGAT 0.498000 12 49 0 0 0.010729 0 0 CD1D 912 broad.mit.edu 37 1 158151368 158151368 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:158151368C>T ENST00000368171.3 + 3 684 c.185C>T c.(184-186)tCg>tTg p.S62L NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 62 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) AGCAACGACTCGGACACCGTC 0.622000 21 232 0 0 0.014323 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212565 26212565 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:26212565C>A ENST00000379034.1 + 2 751 c.602C>A c.(601-603)aCg>aAg p.T201K NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 201 MAGE. p.T201M(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 AAGGCGTGCACGTTGGCGCAA 0.483000 39 100 1.49673e-21 1.82259e-21 0.006230 1 0 AKR1B10 57016 broad.mit.edu 37 7 134222405 134222405 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:134222405G>A ENST00000359579.4 + 7 1053 c.733G>A c.(733-735)Gca>Aca p.A245T NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 245 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 CAAAAAAACCGCAGCCCAGGT 0.448000 14 60 0 0 0.003163 0 0 YBX3 8531 broad.mit.edu 37 12 10865907 10865907 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:10865907C>T ENST00000228251.4 - 5 676 c.476G>A c.(475-477)gGc>gAc p.G159D YBX3_ENST00000279550.7_Missense_Mutation_p.G159D NM_003651.4 NP_003642.3 Y box binding protein 3 TCCATCCGGGCCAGTCACATT 0.502000 50 77 0 0 0.014410 0 0 IER2 9592 broad.mit.edu 37 19 13264100 13264100 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:13264100C>T ENST00000588173.1 + 1 1312 c.100C>T c.(100-102)Ctg>Ttg p.L34L CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000587885.1_Silent_p.L34L|CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000292433.3_Silent_p.L34L Q9BTL4 IER2_HUMAN immediate early response 2 34 kidney(1)|lung(1)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) GCACCGGAGTCTGCAGCTGTC 0.667000 OREG0025291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 9 0 0 0.001168 0 0 TIGD3 220359 broad.mit.edu 37 11 65124468 65124468 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:65124468G>A ENST00000309880.5 + 2 1396 c.1189G>A c.(1189-1191)Gac>Aac p.D397N NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 397 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 CCGCTTTGTGGACCTGGAGGG 0.622000 19 71 0 0 0.007413 0 0 CHCHD7 79145 broad.mit.edu 37 8 57128978 57128978 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:57128978C>G ENST00000518801.1 + 4 269 c.121C>G c.(121-123)Ctt>Gtt p.L41V CHCHD7_ENST00000303759.3_Intron|CHCHD7_ENST00000521831.1_Missense_Mutation_p.L29V|CHCHD7_ENST00000523975.1_Intron|CHCHD7_ENST00000523061.1_Intron|CHCHD7_ENST00000521524.1_Missense_Mutation_p.L41V|CHCHD7_ENST00000519367.1_Missense_Mutation_p.L29V|CHCHD7_ENST00000396723.5_Intron|CHCHD7_ENST00000517933.1_Intron|CHCHD7_ENST00000355315.3_Intron Q9BUK0 CHCH7_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 7 0 CHCH. CHCHD7/PLAG1(12) endometrium(1) 1 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00159)|all cancers(17;0.0112) TGATGCCTCTCTTATATCTGT 0.368000 T PLAG1 salivary adenoma 16 54 0 0 0.003163 0 0 HECW2 57520 broad.mit.edu 37 2 197105193 197105193 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:197105193G>A ENST00000260983.2 - 21 3926 c.3744C>T c.(3742-3744)gtC>gtT p.V1248V HECW2_ENST00000409111.1_Silent_p.V892V NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 1248 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CAACGAAGGTGACATATAGCT 0.473000 37 55 0 0 0.006999 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921577 78921577 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:78921577G>T ENST00000261751.3 - 5 1181 c.1070C>A c.(1069-1071)gCc>gAc p.A357D CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 357 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GAAGGCTCTGGCCGGGCTGCT 0.637000 15 20 1.15088e-07 1.2555e-07 0.004007 1 0 AMPD2 271 broad.mit.edu 37 1 110168300 110168300 + Nonsense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:110168300C>A ENST00000256578.3 + 3 761 c.401C>A c.(400-402)tCa>tAa p.S134* AMPD2_ENST00000342115.4_Nonsense_Mutation_p.S53*|AMPD2_ENST00000528667.1_Nonsense_Mutation_p.S134*|AMPD2_ENST00000528454.1_Nonsense_Mutation_p.S16*|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Nonsense_Mutation_p.S15*|AMPD2_ENST00000358729.4_Nonsense_Mutation_p.S59* NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 134 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) TTCACCCGCTCACTGGCTGAG 0.667000 5 38 0.000602214 0.000626911 0.000602 1 0 PIGA 5277 broad.mit.edu 37 X 15339736 15339736 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:15339736A>G ENST00000333590.4 - 6 1431 c.1347T>C c.(1345-1347)tcT>tcC p.S449S PIGA_ENST00000428964.1_Silent_p.S134S|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Silent_p.S215S NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A 449 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) CATCAATGATAGAATCTGGAG 0.428000 27 102 0 0 0.010818 0 0 ATRNL1 26033 broad.mit.edu 37 10 116889092 116889092 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:116889092C>G ENST00000355044.3 + 5 750 c.624C>G c.(622-624)atC>atG p.I208M ATRNL1_ENST00000527407.1_Missense_Mutation_p.I208M|ATRNL1_ENST00000529665.1_3'UTR NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 208 CUB.|EGF-like 2. integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TTTACAGAATCAATTCTTGTC 0.303000 6 48 0 0 0.003080 0 0 PAX9 5083 broad.mit.edu 37 14 37132112 37132112 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:37132112C>A ENST00000361487.6 + 2 240 c.15C>A c.(13-15)ttC>ttA p.F5L PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Missense_Mutation_p.F5L P55771 PAX9_HUMAN paired box 9 5 Paired. multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.F5F(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) AGCCAGCCTTCGGGGAGGTGA 0.662000 20 127 1.55795e-14 1.82637e-14 0.012319 1 0 PRKRIP1 79706 broad.mit.edu 37 7 102036862 102036862 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:102036862G>A ENST00000496391.1 + 5 1314 c.4G>A c.(4-6)Gct>Act p.A2T PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.A2T|PRKRIP1_ENST00000482465.1_Intron Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) 2 Interaction with EIF2AK2 (By similarity). nucleolus endometrium(1)|lung(4)|ovary(1) 6 GGCTGCCATGGCTAGCCCAGC 0.667000 8 4 0 0 0.003080 0 0 FCHSD2 9873 broad.mit.edu 37 11 72554227 72554227 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:72554227G>C ENST00000409314.1 - 17 1914 c.1746C>G c.(1744-1746)ctC>ctG p.L582L FCHSD2_ENST00000311172.7_Silent_p.L502L|FCHSD2_ENST00000409418.4_Silent_p.L558L|FCHSD2_ENST00000409263.1_5'UTR|FCHSD2_ENST00000458644.2_Silent_p.L422L|FCHSD2_ENST00000409853.1_Silent_p.L502L|ATG16L2_ENST00000534905.1_3'UTR O94868 FCSD2_HUMAN FCH and double SH3 domains 2 558 SH3 2. protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) TGCCTGAAACGAGTTCTGCTT 0.522000 6 46 0 0 0.001168 0 0 MMP16 4325 broad.mit.edu 37 8 89198707 89198707 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:89198707G>T ENST00000286614.6 - 3 683 c.402C>A c.(400-402)taC>taA p.Y134* MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 134 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TCTTATACCTGTAAGTGATGT 0.403000 69 139 3.89499e-28 4.87797e-28 0.014410 1 0 DUSP22 56940 broad.mit.edu 37 6 348125 348125 + Missense_Mutation SNP G G A rs138056339 byFrequency TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:348125G>A ENST00000419235.2 + 6 364 c.286G>A c.(286-288)Gtg>Atg p.V96M DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.V96M|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 96 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.V96M(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CTCCAGGAGCGTGACACTGGT 0.612000 22 192 0 0 0.012319 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751042 140751042 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:140751042G>T ENST00000576222.1 + 1 1212 c.1081G>T c.(1081-1083)Gag>Tag p.E361* PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAAGATGCTGAGCTGGGGAC 0.403000 8 15 5.18039e-06 5.55944e-06 0.003080 1 0 ZNF786 136051 broad.mit.edu 37 7 148768612 148768612 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:148768612C>T ENST00000316286.9 - 3 1266 c.994G>A c.(994-996)Gcg>Acg p.A332T ZNF786_ENST00000451334.3_Missense_Mutation_p.A381T|ZNF786_ENST00000491431.1_Missense_Mutation_p.A418T Q8N393 ZN786_HUMAN zinc finger protein 786 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCACCGTGCGCGTGCTGGTGG 0.632000 4 24 0 0 0.000602 0 0 SYT11 23208 broad.mit.edu 37 1 155851236 155851236 + Nonsense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:155851236G>A ENST00000368324.4 + 4 1486 c.1233G>A c.(1231-1233)tgG>tgA p.W411* SYT11_ENST00000539162.1_Nonsense_Mutation_p.W104* NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 411 cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) CTGAACACTGGAGAGAGGTCT 0.587000 8 192 0 0 0.003080 0 0 FANCB 2187 broad.mit.edu 37 X 14883041 14883041 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:14883041G>C ENST00000398334.1 - 3 859 c.592C>G c.(592-594)Caa>Gaa p.Q198E FANCB_ENST00000324138.3_Missense_Mutation_p.Q198E NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 198 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) GAAGGCTCTTGAGTACATTCT 0.333000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 29 131 0 0 0.008361 0 0 CD300E 342510 broad.mit.edu 37 17 72613371 72613371 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:72613371G>T ENST00000392619.1 - 2 390 c.355C>A c.(355-357)Cag>Aag p.Q119K CD300E_ENST00000426295.2_Missense_Mutation_p.Q133K|CD300E_ENST00000328630.3_Missense_Mutation_p.Q92K NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 92 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 TTGAGGTTCTGCATGGTCACA 0.542000 21 150 5.35356e-11 6.09198e-11 0.002780 1 0 PTPRD 5789 broad.mit.edu 37 9 8436648 8436648 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:8436648C>T ENST00000381196.4 - 32 4573 c.4030G>A c.(4030-4032)Gac>Aac p.D1344N PTPRD_ENST00000486161.1_Missense_Mutation_p.D937N|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1344N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D938N|PTPRD_ENST00000397606.3_Missense_Mutation_p.D937N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D937N|PTPRD_ENST00000397611.3_Missense_Mutation_p.D934N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1344N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1331N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D934N|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1322N NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1344 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCAATGTGGTCTGCAAGTTCC 0.338000 TSP Lung(15;0.13) 10 48 0 0 0.010729 0 0 BTBD7 55727 broad.mit.edu 37 14 93720129 93720129 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:93720129C>G ENST00000334746.5 - 7 1923 c.1616G>C c.(1615-1617)aGa>aCa p.R539T BTBD7_ENST00000393170.2_Missense_Mutation_p.R113T|BTBD7_ENST00000554565.1_Missense_Mutation_p.R188T NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 539 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) AATCAAGCCTCTTTTCATCta 0.289000 8 41 0 0 0.003080 0 0 RDH14 57665 broad.mit.edu 37 2 18736478 18736478 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:18736478C>T ENST00000381249.3 - 2 1097 c.990G>A c.(988-990)gtG>gtA p.V330V RDH14_ENST00000468071.1_5'UTR NM_020905.3 NP_065956.1 retinol dehydrogenase 14 (all-trans/9-cis/11-cis) breast(2)|endometrium(1)|large_intestine(2)|lung(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) GGCCAACCATCACTTCACTGA 0.398000 19 104 0 0 0.010504 0 0 ESRRB 2103 broad.mit.edu 37 14 76906018 76906018 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:76906018G>T ENST00000380887.2 + 2 394 c.322G>T c.(322-324)Gac>Tac p.D108Y ESRRB_ENST00000261532.7_Missense_Mutation_p.D108Y|ESRRB_ENST00000509242.1_Missense_Mutation_p.D108Y|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.D108Y A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 108 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CGTGTGCGGGGACATTGCCTC 0.617000 25 9 1.64293e-13 1.91241e-13 0.003330 1 0 TNNI1 7135 broad.mit.edu 37 1 201383732 201383732 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:201383732C>T ENST00000361379.4 - 5 195 c.103G>A c.(103-105)Gag>Aag p.E35K TNNI1_ENST00000367312.1_Missense_Mutation_p.E35K|TNNI1_ENST00000555948.1_Missense_Mutation_p.E35K|TNNI1_ENST00000336092.4_Missense_Mutation_p.E35K NM_003281.3 NP_003272.3 P19237 TNNI1_HUMAN troponin I type 1 (skeletal, slow) 35 Involved in binding TNC. muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 TCGCGCTCCTCGTGCTCCTGC 0.662000 13 46 0 0 0.001855 0 0 APOB 338 broad.mit.edu 37 2 21225915 21225915 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:21225915C>T ENST00000233242.1 - 29 12506 c.12379G>A c.(12379-12381)Gac>Aac p.D4127N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4127 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AACCTCACGTCGATATCATCA 0.502000 12 135 0 0 0.001855 0 0 PTPRO 5800 broad.mit.edu 37 12 15637097 15637097 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:15637097C>T ENST00000281171.4 + 2 595 c.265C>T c.(265-267)Cat>Tat p.H89Y PTPRO_ENST00000543886.1_Missense_Mutation_p.H89Y|PTPRO_ENST00000348962.2_Missense_Mutation_p.H89Y NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 89 Fibronectin type-III 1. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GGCCAGTTATCATGGCCTTTA 0.373000 9 50 0 0 0.006214 0 0 ZNF479 90827 broad.mit.edu 37 7 57187738 57187738 + Nonsense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:57187738C>A ENST00000331162.4 - 5 1654 c.1384G>T c.(1384-1386)Gag>Tag p.E462* NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TAGGGTCTCTCTCCAGTATGA 0.423000 47 88 1.67211e-32 2.11012e-32 0.014410 1 0 BICD1 636 broad.mit.edu 37 12 32481160 32481160 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:32481160G>A ENST00000548411.1 + 5 1952 c.1771G>A c.(1771-1773)Gaa>Aaa p.E591K BICD1_ENST00000281474.5_Missense_Mutation_p.E591K NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 591 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GGCCAGCAAAGAACCAAGTCC 0.498000 11 76 0 0 0.008291 0 0 CNN1 1264 broad.mit.edu 37 19 11657493 11657493 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:11657493C>T ENST00000592923.1 + 4 616 c.39C>T c.(37-39)ttC>ttT p.F13F CNN1_ENST00000544952.1_Silent_p.F43F|CNN1_ENST00000535659.2_Silent_p.F13F|CNN1_ENST00000252456.2_Silent_p.F63F P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 63 actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 TTCTCAGATTCATCAATAAGC 0.562000 14 52 0 0 0.003163 0 0 KIAA0556 23247 broad.mit.edu 37 16 27772844 27772844 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:27772844A>G ENST00000261588.4 + 19 3761 c.3742A>G c.(3742-3744)Atc>Gtc p.I1248V NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1248 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CCTGCACCAGATCTCTGCTTC 0.577000 17 35 0 0 0.006122 0 0 WBP2NL 164684 broad.mit.edu 37 22 42418274 42418274 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:42418274G>C ENST00000328823.9 + 5 459 c.428G>C c.(427-429)aGa>aCa p.R143T WBP2NL_ENST00000543212.1_Missense_Mutation_p.R69T NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 143 egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 TTTCCACTTAGAACCTTAAAT 0.383000 20 84 0 0 0.012319 0 0 GIF 2694 broad.mit.edu 37 11 59604819 59604819 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:59604819G>C ENST00000541311.1 - 6 858 c.624C>G c.(622-624)ctC>ctG p.L208L GIF_ENST00000257248.2_Silent_p.L233L P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 233 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 GTGTTACAGAGAGAGCCTGGG 0.413000 5 16 0 0 0.000602 0 0 OR52N5 390075 broad.mit.edu 37 11 5799669 5799669 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:5799669G>A ENST00000317093.2 - 1 228 c.196C>T c.(196-198)Ccg>Tcg p.P66S TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) AAATACATCGGATGATGTAAG 0.453000 13 83 0 0 0.001855 0 0 OR2A12 346525 broad.mit.edu 37 7 143792833 143792833 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:143792833C>T ENST00000408949.2 + 1 693 c.633C>T c.(631-633)tgC>tgT p.C211C NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GGCCGCTCTGCCTGGTGCTGG 0.562000 60 120 0 0 0.014410 0 0 TPTE 7179 broad.mit.edu 37 21 10906930 10906930 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr21:10906930C>A ENST00000298232.7 - 23 1944 c.1577G>T c.(1576-1578)aGt>aTt p.S526I TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S544I|TPTE_ENST00000342420.5_Missense_Mutation_p.S506I NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 544 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) TACAACATCACTGGAAGTCAT 0.388000 19 47 1.87028e-06 2.02027e-06 0.012319 1 0 ME3 10873 broad.mit.edu 37 11 86270746 86270746 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:86270746C>G ENST00000543262.1 - 3 629 c.303G>C c.(301-303)caG>caC p.Q101H RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.Q101H|ME3_ENST00000323418.6_Missense_Mutation_p.Q39H|ME3_ENST00000359636.2_Missense_Mutation_p.Q101H NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 101 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) CCAGGTCACTCTGCTGCCGCT 0.532000 32 145 0 0 0.003271 0 0 BMP2K 55589 broad.mit.edu 37 4 79831813 79831813 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:79831813C>G ENST00000335016.5 + 16 2278 c.2112C>G c.(2110-2112)ggC>ggG p.G704G PAQR3_ENST00000295462.3_Intron NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 704 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 AAGAAAATGGCACTGCAAACC 0.388000 29 21 0 0 0.005443 0 0 COL6A2 1292 broad.mit.edu 37 21 47545457 47545457 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr21:47545457C>T ENST00000300527.4 + 25 1999 c.1895C>T c.(1894-1896)aCa>aTa p.T632I COL6A2_ENST00000310645.5_Missense_Mutation_p.T632I|COL6A2_ENST00000357838.4_Missense_Mutation_p.T632I|COL6A2_ENST00000409416.1_Missense_Mutation_p.T632I|COL6A2_ENST00000397763.1_Missense_Mutation_p.T632I NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 632 Nonhelical region.|VWFA 2. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACCAACTTCACACTGGAGAAG 0.617000 29 34 0 0 0.007291 0 0 NINL 22981 broad.mit.edu 37 20 25477351 25477351 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:25477351C>G ENST00000278886.6 - 10 1331 c.1258G>C c.(1258-1260)Gag>Cag p.E420Q NINL_ENST00000422516.1_Missense_Mutation_p.E420Q NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 420 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TCGTCCATCTCTTTCACAAAC 0.602000 11 62 0 0 0.008291 0 0 TP53BP1 7158 broad.mit.edu 37 15 43701917 43701917 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:43701917G>C ENST00000263801.3 - 25 5565 c.5313C>G c.(5311-5313)ttC>ttG p.F1771L TP53BP1_ENST00000382039.3_Missense_Mutation_p.F1726L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.F1776L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.F1774L NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1771 BRCT 1. double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) ACTGCTTGTTGAAAGGAGGAA 0.363000 Other conserved DNA damage response genes 4 11 0 0 0.009096 0 0 FBXO5 26271 broad.mit.edu 37 6 153296150 153296150 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:153296150C>G ENST00000367241.3 - 2 952 c.572G>C c.(571-573)aGa>aCa p.R191T FBXO5_ENST00000229758.3_Missense_Mutation_p.R237T NM_001142522.1 NP_001135994.1 Q9UKT4 FBX5_HUMAN F-box protein 5 237 Interaction with EVI5. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm|spindle metal ion binding|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893) GCCCATTTTTCTGCCAATTAT 0.383000 7 102 0 0 0.003080 0 0 MYH13 8735 broad.mit.edu 37 17 10265786 10265786 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:10265786A>T ENST00000418404.3 - 3 402 c.239T>A c.(238-240)aTg>aAg p.M80K MYH13_ENST00000252172.4_Missense_Mutation_p.M80K|MYH13_ENST00000570743.1_Missense_Mutation_p.M80K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 80 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GGGAGGGTTCATGGGGAAGAC 0.488000 23 87 0 0 0.005443 0 0 FAM83C 128876 broad.mit.edu 37 20 33875148 33875148 + Silent SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:33875148G>T ENST00000374408.3 - 4 1530 c.1434C>A c.(1432-1434)ccC>ccA p.P478P NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 478 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GACCCCGCAGGGGGCTGGGCT 0.642000 17 47 1.99824e-07 2.1763e-07 0.004990 1 0 OTOF 9381 broad.mit.edu 37 2 26750699 26750699 + Splice_Site SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:26750699C>A ENST00000272371.2 - 3 354 c.e3+1 OTOF_ENST00000403946.3_Splice_Site NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCACACTTACTTGTTGCTGA 0.562000 8 69 0.000442599 0.000461478 0.006214 1 0 DNAH9 1770 broad.mit.edu 37 17 11757715 11757715 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:11757715G>T ENST00000262442.3 + 50 9971 c.9903G>T c.(9901-9903)gaG>gaT p.E3301D DNAH9_ENST00000454412.2_Missense_Mutation_p.E3301D NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3301 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGCCCAGGAGAAGCTGGCTG 0.547000 14 18 6.72482e-11 7.62609e-11 0.003163 1 0 BARHL1 56751 broad.mit.edu 37 9 135464746 135464746 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr9:135464746G>A ENST00000263610.2 + 3 1434 c.821G>A c.(820-822)gGc>gAc p.G274D BARHL1_ENST00000542090.1_Missense_Mutation_p.G274D NM_020064.3 NP_064448.1 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 274 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(2)|skin(3) 8 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) CTGGACCCCGGCGCGGCGCTC 0.672000 23 55 0 0 0.014323 0 0 HPSE2 60495 broad.mit.edu 37 10 100481571 100481571 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:100481571G>A ENST00000370552.3 - 5 858 c.799C>T c.(799-801)Cgg>Tgg p.R267W HPSE2_ENST00000370546.1_Missense_Mutation_p.R267W|HPSE2_ENST00000370549.1_Missense_Mutation_p.R209W|HPSE2_ENST00000404542.1_Missense_Mutation_p.R155W NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 267 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity p.R267W(4) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) TGCATGGTCCGATAGTTATTT 0.473000 24 67 0 0 0.004656 0 0 ITGBL1 9358 broad.mit.edu 37 13 102250648 102250648 + Splice_Site SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr13:102250648G>T ENST00000376180.3 + 7 1233 c.1015_splice c.e7+1 p.R338_splice ITGBL1_ENST00000376162.3_Splice_Site_p.R245_splice|ITGBL1_ENST00000545560.2_Splice_Site_p.R197_splice NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 338 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTCTGGGAGGGGTAAGTGAG 0.498000 14 15 4.3838e-07 4.75873e-07 0.001855 1 0 BNIP3P1 319138 broad.mit.edu 37 14 28733949 28733949 + RNA SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:28733949T>A ENST00000550043.1 + 0 354 GAGTTCTCACTGTGACAGCCC 0.478000 40 29 0 0 0.011902 0 0 HIVEP1 3096 broad.mit.edu 37 6 12123906 12123906 + Nonsense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:12123906C>G ENST00000379388.2 + 4 4210 c.3878C>G c.(3877-3879)tCa>tGa p.S1293* NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1293 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GAACATTCCTCAACAGAATCG 0.458000 9 90 0 0 0.006214 0 0 MUC6 4588 broad.mit.edu 37 11 1025347 1025347 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:1025347C>T ENST00000421673.2 - 23 2870 c.2820G>A c.(2818-2820)gcG>gcA p.A940A NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 940 VWFD 3. 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) AGTTTCTGTCCGCCAGCACCA 0.682000 12 43 0 0 0.010729 0 0 RAD54L 8438 broad.mit.edu 37 1 46736385 46736385 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:46736385A>T ENST00000371975.4 + 10 1771 c.1097A>T c.(1096-1098)gAc>gTc p.D366V RAD54L_ENST00000442598.1_Missense_Mutation_p.D366V NM_003579.3 NP_003570.2 Q92698 RAD54_HUMAN RAD54-like (S. cerevisiae) 366 meiosis nucleus ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 25 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) AAGGGTCGAGACGCTGCTGCT 0.473000 Direct reversal of damage;Homologous recombination 9 43 0 0 0.004482 0 0 POLR1B 84172 broad.mit.edu 37 2 113331367 113331367 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:113331367G>T ENST00000263331.5 + 14 3080 c.2500G>T c.(2500-2502)Ggg>Tgg p.G834W POLR1B_ENST00000409894.3_Missense_Mutation_p.G651W|POLR1B_ENST00000541869.1_Missense_Mutation_p.G872W|POLR1B_ENST00000537335.1_Missense_Mutation_p.G623W|POLR1B_ENST00000417433.2_Missense_Mutation_p.G778W NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 834 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding p.G834R(1) breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 CCTCAACACCGGGGAAAGTTT 0.438000 40 93 1.62957e-23 2.02165e-23 0.008740 1 0 CPQ 10404 broad.mit.edu 37 8 98041644 98041644 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:98041644G>A ENST00000220763.5 + 6 1185 c.975G>A c.(973-975)aaG>aaA p.K325K NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 325 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity TGCGTCCAAAGAGGACTCTGC 0.428000 4 11 0 0 0.009096 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203212 140203212 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:140203212C>T ENST00000529859.1 + 1 1852 c.1852C>T c.(1852-1854)Cgc>Tgc p.R618C PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R618C|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R618C NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCAGTGCGCGCATCCCGTT 0.652000 31 54 0 0 0.003271 0 0 DECR1 1666 broad.mit.edu 37 8 91013744 91013744 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:91013744C>G ENST00000220764.2 + 1 112 c.24C>G c.(22-24)ttC>ttG p.F8L DECR1_ENST00000522161.1_5'UTR|DECR1_ENST00000519007.1_3'UTR NM_001359.1 NP_001350.1 Q16698 DECR_HUMAN 2,4-dienoyl CoA reductase 1, mitochondrial 8 fatty acid beta-oxidation|protein homotetramerization mitochondrial matrix|nucleus|plasma membrane 2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 15 BRCA - Breast invasive adenocarcinoma(11;0.00953) CCAGGGTTTTCTTTACTCTGG 0.667000 OREG0018857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 31 0 0 0.004672 0 0 TCEANC 170082 broad.mit.edu 37 X 13681425 13681425 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:13681425G>A ENST00000380600.1 + 2 885 c.798G>A c.(796-798)ctG>ctA p.L266L TCEANC_ENST00000545566.1_Silent_p.L266L|TCEANC_ENST00000314720.4_Silent_p.L296L|TCEANC_ENST00000544987.1_Silent_p.L266L|TCEANC_ENST00000490617.1_3'UTR Q8N8B7 TEANC_HUMAN transcription elongation factor A (SII) N-terminal and central domain containing 266 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1) 9 ATAAGGAACTGAAGCAGTTGA 0.428000 4 10 0 0 0.009096 0 0 SPPL2B 56928 broad.mit.edu 37 19 2337594 2337594 + RNA SNP C C G rs35767987 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:2337594C>G ENST00000452401.2 + 0 419 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity p.R113R(2) Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGAGCACGCGGGCTGCTCA 0.692000 7 15 0 0 0.001984 0 0 CCDC6 8030 broad.mit.edu 37 10 61666021 61666021 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:61666021G>A ENST00000263102.6 - 1 393 c.162C>T c.(160-162)ttC>ttT p.F54F NM_005436.4 NP_005427.2 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 54 cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton CCDC6/RET(4) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1) 18 Kidney(211;0.0597) CCTCCAGGCGGAACGGCGAGA 0.667000 T RET NSCLC 45 62 0 0 0.014410 0 0 WDR96 80217 broad.mit.edu 37 10 105947204 105947204 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:105947204G>C ENST00000357060.3 - 14 1849 c.1734C>G c.(1732-1734)atC>atG p.I578M WDR96_ENST00000428666.1_Missense_Mutation_p.I579M|WDR96_ENST00000278064.2_Missense_Mutation_p.I509M NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 578 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ACTTATGAATGATTTCATCTT 0.373000 11 48 0 0 0.013537 0 0 PRKAG3 53632 broad.mit.edu 37 2 219688556 219688556 + Missense_Mutation SNP C C A rs144562493 by1000genomes TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:219688556C>A ENST00000439262.2 - 13 1419 c.1324G>T c.(1324-1326)Gtg>Ttg p.V442L PRKAG3_ENST00000545803.1_Missense_Mutation_p.V283L|PRKAG3_ENST00000529249.1_Missense_Mutation_p.V467L NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 467 CBS 4. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGGAGACCACGCCCAAGAGA 0.612000 29 47 7.26314e-15 8.56013e-15 0.007291 1 0 KLHL20 27252 broad.mit.edu 37 1 173703134 173703134 + Silent SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:173703134A>T ENST00000209884.4 + 3 442 c.306A>T c.(304-306)gcA>gcT p.A102A KLHL20_ENST00000493170.1_3'UTR|KLHL20_ENST00000546011.1_Intron NM_014458.3 NP_055273.2 Q9Y2M5 KLH20_HUMAN kelch-like family member 20 102 BTB. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1) 34 GAGAATTGGCAGAGAGCCGTC 0.473000 8 77 0 0 0.008291 0 0 URB2 9816 broad.mit.edu 37 1 229773396 229773396 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:229773396C>G ENST00000258243.2 + 4 3172 c.3036C>G c.(3034-3036)ctC>ctG p.L1012L NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1012 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TGCAGATGCTCATCCAAATGA 0.448000 11 60 0 0 0.010729 0 0 ATP2B4 493 broad.mit.edu 37 1 203682343 203682343 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:203682343G>A ENST00000357681.5 + 14 3385 c.2262G>A c.(2260-2262)gcG>gcA p.A754A ATP2B4_ENST00000341360.2_Silent_p.A754A|ATP2B4_ENST00000367218.3_Silent_p.A754A|ATP2B4_ENST00000391954.2_Silent_p.A754A|ATP2B4_ENST00000367219.3_Silent_p.A742A NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 754 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GGGTCCTGGCGCGATCTTCTC 0.542000 20 158 0 0 0.010504 0 0 DPY19L1 23333 broad.mit.edu 37 7 34971311 34971311 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:34971311A>G ENST00000310974.4 - 22 2046 c.1902T>C c.(1900-1902)gaT>gaC p.D634D NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) 634 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 GATCTTCTACATCCCAAATTT 0.398000 3 36 0 0 0.004672 0 0 FOXA1 3169 broad.mit.edu 37 14 38060627 38060627 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:38060627G>A ENST00000250448.2 - 2 1423 c.1362C>T c.(1360-1362)gcC>gcT p.A454A FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Silent_p.A421A NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 454 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CCGGCTCCAGGGCTGAGGGCT 0.617000 14 128 0 0 0.003163 0 0 SPECC1 92521 broad.mit.edu 37 17 20108588 20108588 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:20108588C>T ENST00000395530.2 + 2 1191 c.983C>T c.(982-984)aCa>aTa p.T328I SPECC1_ENST00000395525.3_Missense_Mutation_p.T328I|SPECC1_ENST00000261503.5_Missense_Mutation_p.T409I|SPECC1_ENST00000395522.2_Missense_Mutation_p.T328I|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.T409I|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.T409I|SPECC1_ENST00000472876.1_Intron NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 409 Ser-rich. nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) CAGGAATTGACAGCTGAAAAT 0.413000 14 54 0 0 0.002450 0 0 MED1 5469 broad.mit.edu 37 17 37563895 37563895 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:37563895T>C ENST00000300651.6 - 17 4802 c.4579A>G c.(4579-4581)Agc>Ggc p.S1527G MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1527 Lys-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GGCTTGATGCTATGAGATTTT 0.428000 HNSCC(31;0.082) 30 70 0 0 0.010818 0 0 INPP5D 3635 broad.mit.edu 37 2 234104107 234104107 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:234104107C>T ENST00000359570.5 + 26 2623 c.2623C>T c.(2623-2625)Cac>Tac p.H875Y INPP5D_ENST00000455936.2_Missense_Mutation_p.H639Y|INPP5D_ENST00000450745.1_Missense_Mutation_p.H639Y Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 887 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CCTCACCAGCCACGACCCCAT 0.567000 24 52 0 0 0.002780 0 0 ANKAR 150709 broad.mit.edu 37 2 190611111 190611111 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:190611111G>A ENST00000520309.1 + 23 4151 c.4063G>A c.(4063-4065)Gag>Aag p.E1355K ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.E1284K|ANKAR_ENST00000313581.4_Missense_Mutation_p.E1355K|ANKAR_ENST00000281412.6_3'UTR NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1355 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TTTAGGGAAGGAGCACCGAAG 0.333000 13 173 0 0 0.002450 0 0 SH3D21 79729 broad.mit.edu 37 1 36785389 36785389 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:36785389G>A ENST00000453908.2 + 14 1153 c.1125G>A c.(1123-1125)aaG>aaA p.K375K SH3D21_ENST00000312808.4_Silent_p.K21K|SH3D21_ENST00000505871.1_Silent_p.K264K|SH3D21_ENST00000426732.2_Silent_p.K259K NM_001162530.1 NP_001156002.1 A4FU49 SH321_HUMAN SH3 domain containing 21 259 endometrium(1)|large_intestine(6)|lung(4)|pancreas(1) 12 CCAGCTCCAAGAAGATCCCGG 0.632000 7 32 0 0 0.001984 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10863005 10863005 + RNA SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr21:10863005G>C ENST00000559480.1 + 0 301 p.E101*(1) breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 AGCCTACATGGAGCTAAGCAG 0.507000 22 410 0 0 0.014323 0 0 STRIP2 57464 broad.mit.edu 37 7 129091575 129091575 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:129091575C>G ENST00000249344.2 + 4 436 c.396C>G c.(394-396)ctC>ctG p.L132L STRIP2_ENST00000435494.2_Silent_p.L132L NM_020704.2 NP_065755.1 striatin interacting protein 2 GGGCTGTTCTCTACCTGGCCC 0.567000 9 26 0 0 0.004482 0 0 NCKAP1 10787 broad.mit.edu 37 2 183791552 183791552 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:183791552G>A ENST00000360982.2 - 31 4038 c.3280C>T c.(3280-3282)Cta>Tta p.L1094L NCKAP1_ENST00000361354.3_Silent_p.L1088L NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 1088 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ACCATATCTAGCAGTAAATAA 0.318000 20 37 0 0 0.010504 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727915 20727915 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:20727915C>T ENST00000427401.4 - 4 1188 c.1094G>A c.(1093-1095)gGa>gAa p.G365E NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 365 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 GGGTTTCTCTCCACTATGAAT 0.393000 11 35 0 0 0.010729 0 0 CTXN3 613212 broad.mit.edu 37 5 126993409 126993409 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:126993409G>C ENST00000379445.3 + 3 747 c.196G>C c.(196-198)Gat>Cat p.D66H CTXN3_ENST00000395322.3_Missense_Mutation_p.D66H|CTC-548H10.2_ENST00000512352.1_RNA NM_001048252.2 NP_001041717.1 Q4LDR2 CTXN3_HUMAN cortexin 3 66 integral to membrane endometrium(1)|large_intestine(2)|lung(1) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038) TACCTGGGCTGATGGACTTGA 0.488000 9 70 0 0 0.008291 0 0 GPX5 2880 broad.mit.edu 37 6 28500165 28500165 + Nonsense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:28500165G>T ENST00000412168.2 + 4 516 c.427G>T c.(427-429)Gaa>Taa p.E143* GPX5_ENST00000469384.1_3'UTR|GPX5_ENST00000442674.2_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 143 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) TGTGAATGGTGAAAAAGAACA 0.443000 52 57 4.45325e-31 5.60906e-31 0.014410 1 0 PDE4A 5141 broad.mit.edu 37 19 10570163 10570163 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:10570163A>G ENST00000380702.2 + 10 1123 c.1123A>G c.(1123-1125)Atg>Gtg p.M375V PDE4A_ENST00000440014.2_Missense_Mutation_p.M336V|PDE4A_ENST00000293683.5_Missense_Mutation_p.M371V|PDE4A_ENST00000352831.6_Missense_Mutation_p.M397V|PDE4A_ENST00000344979.3_Missense_Mutation_p.M158V|PDE4A_ENST00000592685.1_Missense_Mutation_p.M375V P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 397 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) CATCATGTACATGATATTCCA 0.622000 6 20 0 0 0.001984 0 0 ICAM5 7087 broad.mit.edu 37 19 10406079 10406079 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:10406079G>A ENST00000221980.4 + 10 2351 c.2288G>A c.(2287-2289)gGa>gAa p.G763E NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 763 Ig-like C2-type 9. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CGCCCAGGAGGAAACTTCACG 0.697000 4 15 0 0 0.009096 0 0 SEC22B 9554 broad.mit.edu 37 1 145109656 145109656 + RNA SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:145109656G>T ENST00000453618.1 + 0 645 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding TGCCCACTGTGTCCCGACCCT 0.418000 32 773 2.75727e-19 3.32687e-19 0.004878 1 0 CELSR1 9620 broad.mit.edu 37 22 46787649 46787649 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:46787649G>C ENST00000262738.3 - 15 6028 c.6029C>G c.(6028-6030)tCc>tGc p.S2010C NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2010 EGF-like 8; calcium-binding.|Laminin EGF-like. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GCGGCTGTGGGAGCCATGGGG 0.632000 4 20 0 0 0.009096 0 0 SYCE1 93426 broad.mit.edu 37 10 135369180 135369180 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:135369180C>T ENST00000368517.3 - 11 781 c.643G>A c.(643-645)Gag>Aag p.E215K SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.E251K|SYCE1_ENST00000432597.2_Missense_Mutation_p.E215K NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 251 cell division central element breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) AGGAGCTCCTCAGCCTTCCTG 0.652000 8 48 0 0 0.003080 0 0 ZC4H2 55906 broad.mit.edu 37 X 64137684 64137684 + Missense_Mutation SNP C C T rs149235340 byFrequency TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:64137684C>T ENST00000447788.2 - 4 646 c.491G>A c.(490-492)cGa>cAa p.R164Q ZC4H2_ENST00000545618.1_Silent_p.P213P|ZC4H2_ENST00000337990.2_Silent_p.P195P|ZC4H2_ENST00000374839.3_Silent_p.P218P|ZC4H2_ENST00000488608.1_5'UTR NM_001178033.2 NP_001171504.1 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 83 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GCTTCCGTTTCGGCTTTTTGG 0.488000 4 20 0 0 0.009096 0 0 MXRA8 54587 broad.mit.edu 37 1 1290159 1290159 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:1290159G>C ENST00000309212.6 - 5 882 c.852C>G c.(850-852)cgC>cgG p.R284R MXRA8_ENST00000445648.2_Silent_p.R284R|MXRA8_ENST00000342753.4_Silent_p.R183R NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 284 Ig-like V-type 2. integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGAAGACGCGGCGTTCGTGCA 0.711000 4 24 0 0 0.009096 0 0 SSX9 280660 broad.mit.edu 37 X 48164277 48164277 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:48164277G>A ENST00000376909.1 - 2 68 c.6C>T c.(4-6)aaC>aaT p.N2N SSX9_ENST00000407081.2_Silent_p.N2N breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 CATCGTCTCCGTTCATGGCAC 0.552000 51 180 0 0 0.014410 0 0 SIN3A 25942 broad.mit.edu 37 15 75687143 75687143 + Missense_Mutation SNP C C T rs151089140 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:75687143C>T ENST00000394947.3 - 14 2469 c.2155G>A c.(2155-2157)Gaa>Aaa p.E719K SIN3A_ENST00000394949.4_Missense_Mutation_p.E719K|SIN3A_ENST00000360439.4_Missense_Mutation_p.E719K NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 719 Interaction with NCOR1 (By similarity).|Interactions with HDAC1 and ARID4B. blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 TCATTTTGTTCTCGCCATACT 0.438000 19 123 0 0 0.010504 0 0 SELP 6403 broad.mit.edu 37 1 169581480 169581480 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:169581480C>T ENST00000263686.6 - 6 973 c.936G>A c.(934-936)tgG>tgA p.W312* SELP_ENST00000367788.2_Intron|SELP_ENST00000367786.2_Nonsense_Mutation_p.W312*|SELP_ENST00000367793.2_Intron|SELP_ENST00000367792.2_Nonsense_Mutation_p.W312*|SELP_ENST00000458599.2_Nonsense_Mutation_p.W312*|SELP_ENST00000367791.2_Nonsense_Mutation_p.W312*|SELP_ENST00000367794.2_Nonsense_Mutation_p.W312* NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 312 Sushi 2. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CTGGGGCTGTCCATACCCCCG 0.488000 13 108 0 0 0.004007 0 0 SPATC1 375686 broad.mit.edu 37 8 145095676 145095676 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:145095676C>G ENST00000377470.3 + 3 1076 c.974C>G c.(973-975)tCc>tGc p.S325C SPATC1_ENST00000447830.2_Missense_Mutation_p.S325C NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 325 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) gtccccacctcccccaccacc 0.662000 5 6 0 0 0.000602 0 0 NAV3 89795 broad.mit.edu 37 12 78452786 78452786 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:78452786G>C ENST00000397909.2 + 12 2700 c.2527G>C c.(2527-2529)Gat>Cat p.D843H NAV3_ENST00000266692.7_Missense_Mutation_p.D843H|NAV3_ENST00000228327.6_Missense_Mutation_p.D843H|NAV3_ENST00000536525.2_Missense_Mutation_p.D843H|RP11-136F16.1_ENST00000549103.1_RNA Q8IVL0 NAV3_HUMAN neuron navigator 3 843 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GTACATGACAGATGGAGGACT 0.388000 HNSCC(70;0.22) 15 34 0 0 0.004990 0 0 OR2T12 127064 broad.mit.edu 37 1 248458293 248458293 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:248458293G>A ENST00000317996.1 - 1 587 c.588C>T c.(586-588)gcC>gcT p.A196A NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AGATGTACATGGCGTTTTCGA 0.537000 14 95 0 0 0.001855 0 0 CABYR 26256 broad.mit.edu 37 18 21735667 21735667 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr18:21735667G>A ENST00000399496.3 + 4 367 c.202G>A c.(202-204)Gag>Aag p.E68K CABYR_ENST00000399481.2_5'UTR|CABYR_ENST00000399499.1_Missense_Mutation_p.E68K|CABYR_ENST00000415309.2_Missense_Mutation_p.E68K|CABYR_ENST00000327201.6_5'UTR|CABYR_ENST00000581397.1_Missense_Mutation_p.E68K NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 68 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) TTTTTCAGTAGAGAAATGGTC 0.333000 12 35 0 0 0.013537 0 0 LYRM2 57226 broad.mit.edu 37 6 90348409 90348409 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:90348409C>A ENST00000523377.1 - 1 63 c.27G>T c.(25-27)gcG>gcT p.A9A LYRM2_ENST00000520441.1_Silent_p.A9A|LYRM2_ENST00000520318.1_Silent_p.A9A NM_020466.4 NP_065199.1 Q9NU23 LYRM2_HUMAN LYR motif containing 2 9 kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0131) ACGTTAGCGTCGCTGGGGGTA 0.637000 29 139 4.31634e-10 4.85312e-10 0.012213 1 0 MAPK13 5603 broad.mit.edu 37 6 36099123 36099123 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:36099123C>T ENST00000211287.4 + 2 457 c.195C>T c.(193-195)ttC>ttT p.F65F MAPK13_ENST00000490334.1_3'UTR|MAPK13_ENST00000373759.1_5'UTR|MAPK13_ENST00000373761.6_Silent_p.F65F|MAPK13_ENST00000373766.5_Silent_p.F65F NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 65 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 CCGAGATCTTCGCCAAGCGCG 0.662000 14 92 0 0 0.004990 0 0 BMS1 9790 broad.mit.edu 37 10 43326498 43326498 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:43326498G>C ENST00000374518.4 + 23 3866 c.3803G>C c.(3802-3804)aGa>aCa p.R1268T NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1268 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AAGGAAAGAAGAAACCAGAAG 0.537000 3 12 0 0 0.009096 0 0 TRIM9 114088 broad.mit.edu 37 14 51467560 51467560 + Splice_Site SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:51467560T>C ENST00000298355.3 - 6 2428 c.e6-2 TRIM9_ENST00000360392.4_Splice_Site|TRIM9_ENST00000338969.5_Intron NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) GAGAGGAAGCTAAACAGAAAT 0.473000 7 56 0 0 0.004482 0 0 SLIT2 9353 broad.mit.edu 37 4 20530616 20530616 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:20530616G>A ENST00000504154.1 + 16 1759 c.1507G>A c.(1507-1509)Gat>Aat p.D503N SLIT2_ENST00000503823.1_Missense_Mutation_p.D495N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D499N|SLIT2_ENST00000273739.5_Missense_Mutation_p.D507N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 503 LRRNT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CTGCTTTGCGGATCTGGCTTG 0.398000 20 93 0 0 0.003330 0 0 TIGD3 220359 broad.mit.edu 37 11 65124466 65124466 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:65124466T>A ENST00000309880.5 + 2 1394 c.1187T>A c.(1186-1188)gTg>gAg p.V396E NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 396 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 TCCCGCTTTGTGGACCTGGAG 0.622000 18 71 0 0 0.007413 0 0 RIMKLA 284716 broad.mit.edu 37 1 42880471 42880471 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:42880471A>G ENST00000431473.3 + 5 1131 c.1002A>G c.(1000-1002)ggA>ggG p.G334G NM_173642.3 NP_775913.2 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family member A 334 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 CAGCTCAGGGAGTTGCAGAGA 0.552000 13 41 0 0 0.001855 0 0 IRF8 3394 broad.mit.edu 37 16 85936695 85936695 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:85936695G>T ENST00000268638.5 + 2 496 c.74G>T c.(73-75)gGa>gTa p.G25V IRF8_ENST00000563180.1_Missense_Mutation_p.G25V NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 25 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) ATGTATCCAGGACTGATTTGG 0.488000 34 66 4.65686e-17 5.54789e-17 0.003755 1 0 PLCB2 5330 broad.mit.edu 37 15 40589781 40589781 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:40589781C>G ENST00000260402.3 - 13 1513 c.1264G>C c.(1264-1266)Gag>Cag p.E422Q PLCB2_ENST00000557821.1_Missense_Mutation_p.E422Q|PLCB2_ENST00000456256.2_Missense_Mutation_p.E422Q NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 422 PI-PLC X-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CGGCAATACTCAGCCATCTTA 0.577000 10 26 0 0 0.006214 0 0 NAV3 89795 broad.mit.edu 37 12 78562540 78562540 + Silent SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:78562540T>A ENST00000397909.2 + 24 5048 c.4875T>A c.(4873-4875)tcT>tcA p.S1625S NAV3_ENST00000266692.7_Silent_p.S1448S|NAV3_ENST00000228327.6_Silent_p.S1625S|NAV3_ENST00000536525.2_Silent_p.S1625S Q8IVL0 NAV3_HUMAN neuron navigator 3 1625 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CACAGGAATCTGAACTTATAG 0.403000 HNSCC(70;0.22) 21 47 0 0 0.012319 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6428049 6428049 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:6428049T>C ENST00000536531.1 + 12 1593 c.1414T>C c.(1414-1416)Tcc>Ccc p.S472P PLEKHG6_ENST00000396988.3_Intron|PLEKHG6_ENST00000011684.7_Intron|PLEKHG6_ENST00000449001.2_Intron Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 472 PH. regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 CCCCAGTACGTCCTTCCTTCA 0.582000 12 40 0 0 0.013537 0 0 HECTD1 25831 broad.mit.edu 37 14 31597041 31597041 + Nonsense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:31597041G>C ENST00000399332.1 - 26 5419 c.4931C>G c.(4930-4932)tCa>tGa p.S1644* HECTD1_ENST00000553700.1_Nonsense_Mutation_p.S1644* NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1644 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ACTGGAAGTTGATGTGAGGCT 0.363000 34 146 0 0 0.006999 0 0 NR3C1 2908 broad.mit.edu 37 5 142779799 142779799 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:142779799C>T ENST00000343796.2 - 2 1599 c.606G>A c.(604-606)ggG>ggA p.G202G NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Silent_p.G202G|NR3C1_ENST00000394464.2_Silent_p.G202G|NR3C1_ENST00000504572.1_Silent_p.G202G|NR3C1_ENST00000394466.2_Silent_p.G202G|NR3C1_ENST00000503201.1_Silent_p.G202G|NR3C1_ENST00000424646.2_Silent_p.G202G|NR3C1_ENST00000231509.3_Silent_p.G202G 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) 202 Modulating. 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) TACCTGGGGACCCAGAAGAAA 0.463000 9 42 0 0 0.006214 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86351130 86351130 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:86351130C>T ENST00000355238.6 - 2 234 c.28G>A c.(28-30)Ggt>Agt p.G10S SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G10S NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 10 CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) TCTTCAGTACCATTTCCATTA 0.358000 12 47 0 0 0.003163 0 0 ACAD10 80724 broad.mit.edu 37 12 112153654 112153654 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:112153654G>A ENST00000455480.2 + 8 1150 c.973G>A c.(973-975)Ggg>Agg p.G325R ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.G294R|ACAD10_ENST00000313698.4_Missense_Mutation_p.G294R NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 294 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 GTTTGATCACGGGCAGTCAAA 0.473000 38 103 0 0 0.006999 0 0 COL12A1 1303 broad.mit.edu 37 6 75804895 75804895 + Splice_Site SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:75804895C>A ENST00000322507.8 - 60 8887 c.8577_splice c.e60-1 p.G2860_splice COL12A1_ENST00000345356.6_Splice_Site_p.G1696_splice|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000483888.2_Intron|COL12A1_ENST00000416123.2_Splice_Site_p.G2784_splice NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2860 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCTGGGCTTCCCTACAACACA 0.473000 17 32 2.4624e-09 2.74988e-09 0.008871 1 0 SMARCA5 8467 broad.mit.edu 37 4 144467174 144467174 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:144467174G>C ENST00000283131.3 + 19 2956 c.2494G>C c.(2494-2496)Gag>Cag p.E832Q NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 832 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) TGAAGAGTTAGAGGAAAAAGA 0.383000 16 45 0 0 0.004007 0 0 TRIM3 10612 broad.mit.edu 37 11 6472225 6472225 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:6472225G>C ENST00000525074.1 - 9 2161 c.1767C>G c.(1765-1767)atC>atG p.I589M TRIM3_ENST00000345851.3_Missense_Mutation_p.I589M|TRIM3_ENST00000359518.3_Missense_Mutation_p.I589M|TRIM3_ENST00000537602.1_Missense_Mutation_p.I511M|TRIM3_ENST00000536344.1_Missense_Mutation_p.I470M NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 589 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGACCACAATGATATGTCCAT 0.552000 4 54 0 0 0.000602 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111896952 111896952 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:111896952C>G ENST00000368761.5 - 4 1573 c.1095G>C c.(1093-1095)ctG>ctC p.L365L TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Silent_p.L374L|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000607066.1_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000359831.4_Silent_p.L365L|TRAF3IP2-AS1_ENST00000440395.1_RNA NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 374 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) CCTGTGGTCTCAGCTCTGCAG 0.547000 10 54 0 0 0.010729 0 0 AKAP1 8165 broad.mit.edu 37 17 55194219 55194219 + Splice_Site SNP A A C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:55194219A>C ENST00000337714.3 + 8 2665 c.e8-1 AKAP1_ENST00000539273.1_Splice_Site|AKAP1_ENST00000571629.1_Splice_Site|AKAP1_ENST00000572557.1_Splice_Site NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 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) TTGCCTTCCCAGGTCTGACTT 0.517000 20 124 0 0 0.010504 0 0 FAM47A 158724 broad.mit.edu 37 X 34148133 34148133 + Nonsense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:34148133G>A ENST00000346193.3 - 1 2314 c.2263C>T c.(2263-2265)Caa>Taa p.Q755* NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 755 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AACAGCCTTTGAATGATGCCA 0.408000 25 104 0 0 0.008361 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37505151 37505151 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:37505151G>T ENST00000374660.1 + 38 3200 c.3101G>T c.(3100-3102)tGt>tTt p.C1034F ANKRD30A_ENST00000602533.1_Missense_Mutation_p.C915F|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.C915F Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1037 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GTTCATTCTTGTGAAAGAGCA 0.333000 22 37 5.35356e-11 6.09198e-11 0.002780 1 0 MICAL2 9645 broad.mit.edu 37 11 12247773 12247773 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:12247773G>C ENST00000256194.4 + 14 2032 c.1744G>C c.(1744-1746)Gat>Cat p.D582H MICAL2_ENST00000527546.1_Missense_Mutation_p.D582H|MICAL2_ENST00000342902.5_Missense_Mutation_p.D582H|MICAL2_ENST00000537344.1_Missense_Mutation_p.D582H|MICAL2_ENST00000379612.3_Missense_Mutation_p.D582H NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 582 CH. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) GCTCGCATTTGATGTGGCCGA 0.507000 10 68 0 0 0.008291 0 0 C2 717 broad.mit.edu 37 6 31902163 31902163 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:31902163C>G ENST00000418949.2 + 6 986 c.936C>G c.(934-936)ctC>ctG p.L312L CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Intron complement component 2 haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 27 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) GAACCCCACTCACAGCCCACC 0.468000 6 59 0 0 0.001168 0 0 HSPG2 3339 broad.mit.edu 37 1 22205522 22205522 + Silent SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:22205522C>A ENST00000374695.3 - 18 2515 c.2436G>T c.(2434-2436)cgG>cgT p.R812R NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 812 Laminin EGF-like 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AAGGGCAGGGCCGGCAGGAAG 0.617000 14 13 6.72482e-11 7.62609e-11 0.003163 1 0 ANK2 287 broad.mit.edu 37 4 114278095 114278095 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:114278095G>T ENST00000357077.4 + 38 8374 c.8321G>T c.(8320-8322)gGc>gTc p.G2774V ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2741V|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2741 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATCTGTGATGGCCATGGATGT 0.488000 14 102 6.31663e-08 6.91372e-08 0.003163 1 0 AHSP 51327 broad.mit.edu 37 16 31539514 31539514 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:31539514C>G ENST00000302312.4 + 2 157 c.54C>G c.(52-54)ttC>ttG p.F18L AHSP_ENST00000569954.1_3'UTR NM_016633.2 NP_057717.1 Q9NZD4 AHSP_HUMAN alpha hemoglobin stabilizing protein 18 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding lung(2) 2 TGAAGGAGTTCAGCGTTCTGC 0.498000 12 73 0 0 0.010729 0 0 CELSR2 1952 broad.mit.edu 37 1 109812675 109812675 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:109812675G>A ENST00000271332.3 + 23 7289 c.7228G>A c.(7228-7230)Ggc>Agc p.G2410S NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2410 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CAACCAACACGGCATCCGACG 0.577000 18 64 0 0 0.004990 0 0 RHOT1 55288 broad.mit.edu 37 17 30526552 30526552 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:30526552A>G ENST00000358365.3 + 13 1310 c.1083A>G c.(1081-1083)ggA>ggG p.G361G RHOT1_ENST00000354266.3_Silent_p.G340G|RHOT1_ENST00000333942.6_Silent_p.G361G|RHOT1_ENST00000581094.1_Silent_p.G361G|RHOT1_ENST00000394692.2_Silent_p.G361G|RHOT1_ENST00000545287.2_Silent_p.G361G|RHOT1_ENST00000583994.1_Silent_p.G234G NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 361 apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) CCTACCAGGGATTCCTTTCCC 0.378000 25 70 0 0 0.007291 0 0 TDRD1 56165 broad.mit.edu 37 10 115970636 115970636 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:115970636C>T ENST00000251864.2 + 13 1723 c.1570C>T c.(1570-1572)Cag>Tag p.Q524* TDRD1_ENST00000369282.1_Nonsense_Mutation_p.Q524*|TDRD1_ENST00000422662.1_Nonsense_Mutation_p.Q185*|TDRD1_ENST00000369281.2_Nonsense_Mutation_p.Q524*|TDRD1_ENST00000369280.1_Nonsense_Mutation_p.Q524* NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 524 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TGCTGAACTTCAGGCATCCCT 0.393000 12 55 0 0 0.001855 0 0 PRKAA1 5562 broad.mit.edu 37 5 40765169 40765169 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:40765169C>G ENST00000397128.2 - 7 1001 c.993G>C c.(991-993)ttG>ttC p.L331F PRKAA1_ENST00000354209.3_Missense_Mutation_p.L346F NM_006251.5|NM_206907.3 NP_006242.5|NP_996790.3 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic subunit 331 activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) AGGCAACTGCCAAAGGATCCT 0.388000 16 122 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179464429 179464429 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:179464429G>C ENST00000589042.1 - 289 56423 c.56199C>G c.(56197-56199)ctC>ctG p.L18733L TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.L9793L|TTN_ENST00000342992.6_Silent_p.L16165L|TTN_ENST00000342175.6_Silent_p.L9860L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.L17092L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L9668L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17092 Fibronectin type-III 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.L9860L(1)|p.L16163L(1)|p.L16165L(1)|p.L9793L(1) 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) GGGTGTCATAGAGAACAGGTT 0.438000 27 112 0 0 0.006320 0 0 SLC22A3 6581 broad.mit.edu 37 6 160819028 160819028 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:160819028C>G ENST00000392145.1 + 2 474 c.447C>G c.(445-447)gtC>gtG p.V149V SLC22A3_ENST00000275300.2_Silent_p.V149V O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 149 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) TTGTCTGTGTCAATGCGTGGA 0.453000 22 139 0 0 0.003954 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202352615 202352615 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:202352615T>A ENST00000439140.1 - 16 5227 c.5183A>T c.(5182-5184)gAt>gTt p.D1728V ALS2CR11_ENST00000286195.3_Missense_Mutation_p.D531V|ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'UTR NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 531 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CTCAAATTTATCTGAACAATC 0.294000 10 75 0 0 0.006214 0 0 CYP7B1 9420 broad.mit.edu 37 8 65528839 65528839 + Splice_Site SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:65528839C>T ENST00000310193.3 - 3 433 c.e3-1 NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) ATGTACTTTCCTAGAAAAAAA 0.264000 3 12 0 0 0.001168 0 0 SEMA3A 10371 broad.mit.edu 37 7 83640603 83640603 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:83640603C>A ENST00000265362.3 - 8 1135 c.821G>T c.(820-822)gGa>gTa p.G274V SEMA3A_ENST00000436949.1_Missense_Mutation_p.G274V NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 274 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 TCTGTGCCCTCCAAAGTCATT 0.378000 6 23 3.59834e-05 3.81204e-05 0.001168 1 0 ZNF610 162963 broad.mit.edu 37 19 52869486 52869486 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:52869486G>T ENST00000601151.1 + 5 1178 c.726G>T c.(724-726)gaG>gaT p.E242D ZNF610_ENST00000321287.8_Missense_Mutation_p.E285D|ZNF610_ENST00000327920.8_Missense_Mutation_p.E285D|ZNF610_ENST00000403906.3_Missense_Mutation_p.E285D NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) ATACTGGAGAGAAGCCTCACA 0.393000 11 35 2.80697e-09 3.12412e-09 0.010729 1 0 OTUD7A 161725 broad.mit.edu 37 15 31776389 31776389 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:31776389T>A ENST00000382902.1 - 11 2002 c.1910A>T c.(1909-1911)cAg>cTg p.Q637L OTUD7A_ENST00000307050.4_Missense_Mutation_p.Q630L Q8TE49 OTU7A_HUMAN OTU domain containing 7A 630 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GCGCTCCCCCTGCATGGCGGC 0.682000 4 10 0 0 0.009096 0 0 SMPD4 55627 broad.mit.edu 37 2 130930378 130930378 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:130930378C>A ENST00000409031.1 - 6 1701 c.553G>T c.(553-555)Ggt>Tgt p.G185C SMPD4_ENST00000351288.6_Missense_Mutation_p.G185C|SMPD4_ENST00000431183.2_Missense_Mutation_p.G112C|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000339679.7_Missense_Mutation_p.G72C|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000426662.2_Intron NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 146 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) AAGTTCAGACCAAGGCCCCCA 0.607000 27 30 6.36457e-07 6.89757e-07 0.003954 1 0 KIAA0947 23379 broad.mit.edu 37 5 5473764 5473764 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:5473764G>A ENST00000296564.7 + 16 6538 c.6316G>A c.(6316-6318)Ggt>Agt p.G2106S NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 2106 p.G2106R(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 TGAAAAATTTGGTGAAGACCT 0.398000 7 40 0 0 0.001984 0 0 FNBP4 23360 broad.mit.edu 37 11 47746106 47746106 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:47746106C>T ENST00000263773.5 - 13 2245 c.2233G>A c.(2233-2235)Gag>Aag p.E745K NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 745 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 TCACTTCCCTCATCCTCCATC 0.567000 21 103 0 0 0.012319 0 0 DNAH1 25981 broad.mit.edu 37 3 52398911 52398911 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:52398911C>G ENST00000420323.2 + 34 5655 c.5394C>G c.(5392-5394)ctC>ctG p.L1798L NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1798 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGGAGGACCTCAAGCTCTTCT 0.627000 13 51 0 0 0.013537 0 0 C2orf73 129852 broad.mit.edu 37 2 54587462 54587462 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:54587462G>C ENST00000398634.2 + 5 669 c.627G>C c.(625-627)gaG>gaC p.E209D C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron NM_001100396.1 NP_001093866.1 Q8N5S3 CB073_HUMAN chromosome 2 open reading frame 73 209 breast(2) 2 AAAAAACAGAGAAAGGAAACT 0.448000 3 24 0 0 0.004672 0 0 GCAT 23464 broad.mit.edu 37 22 38211274 38211274 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:38211274G>T ENST00000323205.6 + 5 859 c.796G>T c.(796-798)Ggg>Tgg p.G266W GCAT_ENST00000248924.6_Missense_Mutation_p.G240W NM_001171690.1 NP_001165161.1 O75600 KBL_HUMAN glycine C-acetyltransferase 240 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TGGCTTCCTGGGGCCCACAGG 0.617000 4 24 1.23904e-05 1.31898e-05 0.000602 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77913593 77913593 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:77913593G>T ENST00000321110.1 - 2 620 c.325C>A c.(325-327)Cca>Aca p.P109T NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 109 Pro-rich. nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GGGGCTGCTGGGGCCTCCTGG 0.642000 11 12 2.80697e-09 3.12412e-09 0.010729 1 0 BMP5 653 broad.mit.edu 37 6 55638877 55638877 + Nonsense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:55638877G>A ENST00000370830.3 - 4 1695 c.997C>T c.(997-999)Cag>Tag p.Q333* BMP5_ENST00000446683.2_Nonsense_Mutation_p.Q333* NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 333 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GAGGAGTCCTGATGAGAGCTG 0.468000 11 70 0 0 0.010729 0 0 AMY2A 279 broad.mit.edu 37 1 104160583 104160583 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:104160583C>A ENST00000414303.2 + 2 240 c.176C>A c.(175-177)cCa>cAa p.P59Q NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 59 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) TAGGTCTCTCCACCAAATGAA 0.328000 28 104 1.7881e-09 2.00365e-09 0.008361 1 0 OR12D3 81797 broad.mit.edu 37 6 29342268 29342268 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:29342268G>C ENST00000396806.3 - 1 800 c.797C>G c.(796-798)tCc>tGc p.S266C OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 CTGAATCATGGAGGTGGCTGA 0.483000 8 69 0 0 0.004482 0 0 INTS2 57508 broad.mit.edu 37 17 59958421 59958421 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:59958421C>T ENST00000444766.3 - 17 2300 c.2225G>A c.(2224-2226)cGa>cAa p.R742Q INTS2_ENST00000251334.6_Missense_Mutation_p.R734Q NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 742 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 CAGGAGCATTCGCCGTAGCAG 0.398000 15 87 0 0 0.003163 0 0 KCNH2 3757 broad.mit.edu 37 7 150648011 150648011 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:150648011C>G ENST00000392968.2 - 6 2975 c.1855G>C c.(1855-1857)Gcg>Ccg p.A619P KCNH2_ENST00000330883.4_Missense_Mutation_p.A375P|KCNH2_ENST00000262186.5_Missense_Mutation_p.A715P|KCNH2_ENST00000430723.3_Missense_Mutation_p.A715P Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 715 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GGCCTCACCGCGTTCATGTCG 0.632000 16 27 0 0 0.004007 0 0 DNAH10 196385 broad.mit.edu 37 12 124330325 124330325 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:124330325C>T ENST00000409039.3 + 30 5210 c.5185C>T c.(5185-5187)Ccg>Tcg p.P1729S NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1729 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CATCACCATGCCGCTAAGCAA 0.463000 23 42 0 0 0.002780 0 0 GMPPB 29925 broad.mit.edu 37 3 49759191 49759191 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:49759191G>A ENST00000480687.1 - 10 1193 c.1077C>T c.(1075-1077)atC>atT p.I359I GMPPB_ENST00000308388.6_Silent_p.I359I|GMPPB_ENST00000308375.6_Silent_p.I386I|AMIGO3_ENST00000535833.1_5'UTR Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B 359 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCCTCACATGATGATACGAG 0.557000 5 31 0 0 0.001984 0 0 FBXO34 55030 broad.mit.edu 37 14 55817174 55817174 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:55817174G>A ENST00000313833.4 + 2 311 c.66G>A c.(64-66)acG>acA p.T22T FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Silent_p.T22T NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 22 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 GCAGGGAAACGCAGAGAACTC 0.448000 6 64 0 0 0.001168 0 0 AGRN 375790 broad.mit.edu 37 1 978663 978663 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:978663G>C ENST00000379370.2 + 8 1479 c.1429G>C c.(1429-1431)Gcg>Ccg p.A477P NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 477 axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) TGCATTTGGGGCGACGTGTGC 0.662000 4 14 0 0 0.009096 0 0 NES 10763 broad.mit.edu 37 1 156640601 156640601 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:156640601C>T ENST00000368223.3 - 4 3511 c.3379G>A c.(3379-3381)Gag>Aag p.E1127K NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1127 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCCAAACTCTCCTCTTCCAGG 0.642000 13 119 0 0 0.002450 0 0 TMEM86A 144110 broad.mit.edu 37 11 18723357 18723357 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:18723357C>T ENST00000280734.2 + 3 620 c.524C>T c.(523-525)aCa>aTa p.T175I NM_153347.1 NP_699178.1 Q8N2M4 TM86A_HUMAN transmembrane protein 86A 175 integral to membrane endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2) 11 TGGCGCTGGACAGAGCTGGCA 0.602000 13 24 0 0 0.001855 0 0 GPR125 166647 broad.mit.edu 37 4 22389690 22389690 + Missense_Mutation SNP C C A rs141222776 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:22389690C>A ENST00000334304.5 - 19 3873 c.3604G>T c.(3604-3606)Gtg>Ttg p.V1202L GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1202 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CCGTTCTGCACGCTTCCTTCC 0.527000 27 68 2.85442e-18 3.43154e-18 0.010818 1 0 POLDIP3 84271 broad.mit.edu 37 22 42991591 42991591 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr22:42991591C>T ENST00000252115.5 - 6 947 c.843G>A c.(841-843)aaG>aaA p.K281K POLDIP3_ENST00000348657.2_Silent_p.K252K|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_Silent_p.K125K|POLDIP3_ENST00000491021.1_5'UTR NM_032311.3 NP_115687.2 Q9BY77 PDIP3_HUMAN polymerase (DNA-directed), delta interacting protein 3 281 RRM. positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 16 TCACAGTCATCTTGGTGCCTT 0.468000 6 48 0 0 0.001168 0 0 BTRC 8945 broad.mit.edu 37 10 103292112 103292112 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:103292112G>C ENST00000370187.3 + 8 1019 c.901G>C c.(901-903)Gaa>Caa p.E301Q BTRC_ENST00000408038.2_Missense_Mutation_p.E265Q|BTRC_ENST00000393441.4_Missense_Mutation_p.E260Q NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 301 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CTGCCGAAGTGAAACAAGCAA 0.393000 15 98 0 0 0.003163 0 0 IFI44 10561 broad.mit.edu 37 1 79115896 79115896 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:79115896C>T ENST00000370747.4 + 2 101 c.16C>T c.(16-18)Cgt>Tgt p.R6C IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron NM_006417.4 NP_006408.3 Q8TCB0 IFI44_HUMAN interferon-induced protein 44 6 response to virus cytoplasm central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 AGTGACAACTCGTTTGACATG 0.348000 17 51 0 0 0.004990 0 0 POC1A 25886 broad.mit.edu 37 3 52172224 52172224 + Silent SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:52172224C>G ENST00000394970.2 - 7 1091 c.774G>C c.(772-774)ctG>ctC p.L258L POC1A_ENST00000296484.2_Silent_p.L258L|POC1A_ENST00000474012.1_Silent_p.L220L NM_001161580.1 NP_001155052.1 Q8NBT0 POC1A_HUMAN POC1 centriolar protein A 258 centriole|microtubule basal body endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1) 14 GGCCCTCCATCAGGTCCAGGA 0.602000 8 37 0 0 0.004482 0 0 TRBV27 28560 broad.mit.edu 37 7 142423437 142423437 + RNA SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:142423437C>G ENST00000506718.1 + 0 445 TRBV27_ENST00000390399.3_RNA GATACCTCATCACAGTGACTG 0.498000 4 50 0 0 0.009096 0 0 ACTN1 87 broad.mit.edu 37 14 69345241 69345241 + Splice_Site SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:69345241C>T ENST00000394419.4 - 20 2544 c.e20-1 ACTN1_ENST00000538545.2_Splice_Site|ACTN1_ENST00000438964.2_Splice_Site|ACTN1_ENST00000376839.3_Splice_Site|ACTN1_ENST00000193403.6_Intron NM_001130004.1 NP_001123476.1 P12814 ACTN1_HUMAN actinin, alpha 1 focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CTGTCTTCTTCTGTGGGGGGC 0.597000 5 28 0 0 0.000602 0 0 OR14A16 284532 broad.mit.edu 37 1 247979009 247979009 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:247979009G>T ENST00000357627.1 - 1 22 c.23C>A c.(22-24)aCt>aAt p.T8N NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 GATAAATTCAGTCACGATTGT 0.338000 4 42 0.00024832 0.000259732 0.009096 1 0 TRIM50 135892 broad.mit.edu 37 7 72738498 72738498 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:72738498G>C ENST00000333149.2 - 2 488 c.288C>G c.(286-288)ctC>ctG p.L96L TRIM50_ENST00000453152.1_Silent_p.L96L|TRIM50_ENST00000493498.1_5'UTR NM_178125.2 NP_835226.1 Q86XT4 TRI50_HUMAN tripartite motif containing 50 96 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 AGAAAAGGCTGAGCGGGTTCC 0.667000 OREG0018105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 71 0 0 0.004990 0 0 MUC16 94025 broad.mit.edu 37 19 9058315 9058315 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:9058315C>T ENST00000397910.4 - 3 29334 c.29131G>A c.(29131-29133)Gaa>Aaa p.E9711K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9713 Ser-rich.|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 GACAGACTTTCAGGACCCCTG 0.488000 7 26 0 0 0.003080 0 0 MEST 4232 broad.mit.edu 37 7 130140669 130140669 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:130140669G>C ENST00000223215.4 + 9 908 c.687G>C c.(685-687)gaG>gaC p.E229D MEST_ENST00000416162.2_Intron|MEST_ENST00000341441.4_Missense_Mutation_p.E220D|MEST_ENST00000437945.1_Missense_Mutation_p.E229D|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000393187.1_Missense_Mutation_p.E220D|MEST_ENST00000378576.4_Intron NM_001253900.1|NM_002402.3 NP_001240829.1|NP_002393.2 Q5EB52 MEST_HUMAN mesoderm specific transcript 229 mesoderm development endoplasmic reticulum membrane|integral to membrane hydrolase activity|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2) 12 Melanoma(18;0.0435) GGCCCTCTGAGAGTGAGCTGT 0.498000 3 38 0 0 0.009096 0 0 LRRTM3 347731 broad.mit.edu 37 10 68857373 68857373 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:68857373T>A ENST00000361320.4 + 3 2143 c.1565T>A c.(1564-1566)tTt>tAt p.F522Y LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 522 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 GTGTCAACCTTTCTGGCATAC 0.398000 5 68 0 0 0.000602 0 0 PALLD 23022 broad.mit.edu 37 4 169433199 169433199 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:169433199A>G ENST00000261509.6 + 2 755 c.544A>G c.(544-546)Ata>Gta p.I182V PALLD_ENST00000505667.1_Missense_Mutation_p.I182V|PALLD_ENST00000333488.4_Missense_Mutation_p.I59V|PALLD_ENST00000335742.7_5'UTR NM_001166108.1|NM_016081.3 NP_001159580.1|NP_057165.3 Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 182 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GCTAACATCCATATTTAAAGC 0.502000 Pancreatic Cancer, Familial Clustering of 24 79 0 0 0.005443 0 0 GP1BA 2811 broad.mit.edu 37 17 4835987 4835987 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:4835987G>C ENST00000329125.5 + 2 163 c.88G>C c.(88-90)Gaa>Caa p.E30Q NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 30 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 CAGCCACCTAGAAGTGAACTG 0.577000 22 92 0 0 0.003330 0 0 CFHR4 10877 broad.mit.edu 37 1 196881996 196881996 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:196881996C>G ENST00000367416.2 + 7 1258 c.1121C>G c.(1120-1122)tCt>tGt p.S374C CFHR4_ENST00000251424.4_Missense_Mutation_p.S128C|CFHR4_ENST00000367418.1_Missense_Mutation_p.S128C|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 GATGGAAATTCTTCAGGTTCA 0.303000 21 141 0 0 0.002780 0 0 SZT2 23334 broad.mit.edu 37 1 43906216 43906216 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:43906216C>G ENST00000562955.1 + 51 7132 c.7132C>G c.(7132-7134)Cca>Gca p.P2378A SZT2_ENST00000372442.1_Missense_Mutation_p.P1536A NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2435 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GCCTGTGACTCCACCCAGCAA 0.592000 21 66 0 0 0.010504 0 0 HAL 3034 broad.mit.edu 37 12 96389479 96389479 + Silent SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:96389479G>C ENST00000261208.3 - 2 578 c.210C>G c.(208-210)ctC>ctG p.L70L HAL_ENST00000538703.1_Silent_p.L70L|HAL_ENST00000541929.1_5'UTR NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 70 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) GGGCCACCTCGAGCCGGTCCT 0.622000 22 27 0 0 0.003330 0 0 TYR 7299 broad.mit.edu 37 11 88911360 88911360 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:88911360G>T ENST00000263321.5 + 1 741 c.239G>T c.(238-240)tGg>tTg p.W80L TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 80 W -> R (in OCA1A). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CGGGAGTCGTGGCCTTCCGTC 0.517000 36 11 6.84511e-11 7.74918e-11 0.003271 1 0 LGR4 55366 broad.mit.edu 37 11 27393196 27393196 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:27393196A>G ENST00000379214.4 - 17 1988 c.1545T>C c.(1543-1545)caT>caC p.H515H LGR4_ENST00000389858.4_Silent_p.H491H NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 515 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 TTATTTGACTATGTTCTTCAT 0.333000 11 72 0 0 0.010729 0 0 SYT14 255928 broad.mit.edu 37 1 210267810 210267810 + Missense_Mutation SNP A A T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:210267810A>T ENST00000537238.1 + 6 863 c.472A>T c.(472-474)Aac>Tac p.N158Y SYT14_ENST00000534859.1_Missense_Mutation_p.N196Y|SYT14_ENST00000422431.1_Missense_Mutation_p.N241Y|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000472886.1_Missense_Mutation_p.N196Y|SYT14_ENST00000367015.1_Missense_Mutation_p.N158Y|SYT14_ENST00000367019.1_Missense_Mutation_p.N196Y|SYT14_ENST00000399639.2_Missense_Mutation_p.N196Y NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 196 integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) CCACTGCAGCAACAGTCCAAG 0.423000 15 67 0 0 0.004990 0 0 NFE2L1 4779 broad.mit.edu 37 17 46128846 46128846 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:46128846C>T ENST00000362042.3 + 2 982 c.366C>T c.(364-366)ctC>ctT p.L122L NFE2L1_ENST00000585291.1_Silent_p.L122L|NFE2L1_ENST00000357480.5_Silent_p.L122L|NFE2L1_ENST00000361665.3_Silent_p.L122L NM_003204.2 NP_003195.1 Q14494 NF2L1_HUMAN nuclear factor, erythroid 2-like 1 122 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTCAGGCCTCGCCCTCGAGA 0.592000 6 116 0 0 0.001168 0 0 FGFRL1 53834 broad.mit.edu 37 4 1018245 1018245 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:1018245G>A ENST00000398484.2 + 7 1445 c.865G>A c.(865-867)Gag>Aag p.E289K FGFRL1_ENST00000504138.1_Missense_Mutation_p.E289K|FGFRL1_ENST00000510644.1_Missense_Mutation_p.E289K|FGFRL1_ENST00000264748.6_Missense_Mutation_p.E289K Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 289 Ig-like C2-type 3. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GTACGGCGCCGAGGGCCGCCA 0.657000 10 39 0 0 0.008291 0 0 DAW1 164781 broad.mit.edu 37 2 228756020 228756020 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:228756020C>T ENST00000373666.2 + 4 944 c.308C>T c.(307-309)tCg>tTg p.S103L DAW1_ENST00000309931.2_Missense_Mutation_p.S103L|DAW1_ENST00000472604.1_3'UTR|DAW1_ENST00000545118.1_Missense_Mutation_p.S88L dynein assembly factor with WDR repeat domains 1 CTTAACAAATCGGGCTCATGG 0.299000 17 60 0 0 0.010504 0 0 OTC 5009 broad.mit.edu 37 X 38262962 38262962 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:38262962T>A ENST00000039007.4 + 6 784 c.632T>A c.(631-633)tTc>tAc p.F211Y TM4SF2_ENST00000465127.1_Intron NM_000531.5 NP_000522.3 P00480 OTC_HUMAN ornithine carbamoyltransferase 211 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) GCAGCGAAATTCGGAATGCAC 0.473000 16 55 0 0 0.003163 0 0 PPM1B 5495 broad.mit.edu 37 2 44428516 44428516 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:44428516G>C ENST00000378551.2 + 2 590 c.178G>C c.(178-180)Gat>Cat p.D60H PPM1B_ENST00000282412.4_Missense_Mutation_p.D60H|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.D60H|PPM1B_ENST00000409895.4_Missense_Mutation_p.D60H NM_177968.2 NP_808907.1 O75688 PPM1B_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1B 60 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(4)|large_intestine(3)|lung(7)|skin(2) 16 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGCAGTTTATGATGGTCATGC 0.448000 37 144 0 0 0.004878 0 0 AFF2 2334 broad.mit.edu 37 X 148037480 148037480 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:148037480G>C ENST00000370460.2 + 11 2384 c.1905G>C c.(1903-1905)gaG>gaC p.E635D AFF2_ENST00000342251.3_Missense_Mutation_p.E602D|AFF2_ENST00000286437.5_Missense_Mutation_p.E276D|AFF2_ENST00000370457.5_Missense_Mutation_p.E602D NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 635 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AAAAAGTTGAGAAGAACACCA 0.423000 34 96 0 0 0.012213 0 0 FER1L6 654463 broad.mit.edu 37 8 125052198 125052198 + Nonsense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr8:125052198C>G ENST00000522917.1 + 20 2746 c.2540C>G c.(2539-2541)tCa>tGa p.S847* FER1L6-AS1_ENST00000518567.1_RNA|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.S847* NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 847 C2 3. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AATGGACTTTCAGACCCTTTT 0.522000 6 86 0 0 0.001168 0 0 ARHGAP5 394 broad.mit.edu 37 14 32624150 32624150 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:32624150T>C ENST00000345122.3 + 7 4820 c.4505T>C c.(4504-4506)aTa>aCa p.I1502T ARHGAP5_ENST00000396582.2_Missense_Mutation_p.I237T|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I1501T|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I1502T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I1501T|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.I241T NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 1502 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CTTGGTATTATATGAGTAGGA 0.433000 61 52 0 0 0.014410 0 0 AKAP13 11214 broad.mit.edu 37 15 86122855 86122855 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr15:86122855C>G ENST00000394518.2 + 7 1651 c.1556C>G c.(1555-1557)tCt>tGt p.S519C AKAP13_ENST00000361243.2_Missense_Mutation_p.S519C|RP11-815J21.2_ENST00000561409.1_RNA NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 519 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GCTGGAGCCTCTGACGTGCAC 0.483000 9 54 0 0 0.004482 0 0 WNK1 65125 broad.mit.edu 37 12 989170 989170 + Silent SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:989170A>G ENST00000315939.6 + 11 3448 c.2805A>G c.(2803-2805)ccA>ccG p.P935P WNK1_ENST00000530271.2_Silent_p.P1433P|WNK1_ENST00000340908.4_Silent_p.P528P|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron NM_018979.3 NP_061852.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 935 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CTGAGGTTCCACTTTCCTCTG 0.478000 13 47 0 0 0.002450 0 0 RYR1 6261 broad.mit.edu 37 19 39001185 39001185 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:39001185G>C ENST00000355481.4 + 59 9111 c.8980G>C c.(8980-8982)Gag>Cag p.E2994Q RYR1_ENST00000359596.3_Missense_Mutation_p.E2994Q|RYR1_ENST00000360985.3_Missense_Mutation_p.E2994Q NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2994 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACATGAACAGGAGATTAAATT 0.567000 21 73 0 0 0.010504 0 0 AIPL1 23746 broad.mit.edu 37 17 6329120 6329120 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:6329120C>G ENST00000381129.3 - 6 895 c.815G>C c.(814-816)cGg>cCg p.R272P AIPL1_ENST00000574506.1_Missense_Mutation_p.R260P|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000570466.1_Missense_Mutation_p.R250P|AIPL1_ENST00000576776.1_Missense_Mutation_p.R248P|AIPL1_ENST00000576307.1_Missense_Mutation_p.R212P|AIPL1_ENST00000250087.5_Missense_Mutation_p.R209P NM_001033055.1|NM_014336.3 NP_001028227.1|NP_055151.3 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting protein-like 1 272 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) TGCGTGAGCCCGGGCACGCAC 0.667000 4 19 0 0 0.000602 0 0 SIM1 6492 broad.mit.edu 37 6 100841691 100841691 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:100841691C>T ENST00000369208.3 - 11 2024 c.1242G>A c.(1240-1242)acG>acA p.T414T SIM1_ENST00000262901.4_Silent_p.T414T P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 414 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GCGGAGAGGCCGTGTCGGTCA 0.577000 18 36 0 0 0.006122 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369855 20369855 + RNA SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:20369855C>G ENST00000593655.1 - 0 199 CTCACTTGATCAATGTTGAAG 0.398000 7 19 0 0 0.001984 0 0 MAGEA4 4103 broad.mit.edu 37 X 151093032 151093032 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:151093032G>A ENST00000360243.2 + 3 1163 c.896G>A c.(895-897)cGc>cAc p.R299H MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299H|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299H|MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299H|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299H|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299H|MAGEA4_ENST00000370340.3_Missense_Mutation_p.R299H NM_001011550.1 NP_001011550.1 P43358 MAGA4_HUMAN melanoma antigen family A, 4 299 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) GCAAGAGTTCGCATTGCCTAC 0.572000 43 103 0 0 0.009718 0 0 OTOGL 283310 broad.mit.edu 37 12 80658968 80658968 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:80658968C>T ENST00000458043.2 + 19 2181 c.2175C>T c.(2173-2175)ttC>ttT p.F725F OTOGL_ENST00000547103.1_Silent_p.F725F NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CCATTGATTTCAGAACTCAGA 0.453000 10 25 0 0 0.006214 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576567 158576567 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:158576567C>T ENST00000361284.1 + 1 339 c.339C>T c.(337-339)ttC>ttT p.F113F NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) CTAACTGCTTCCTTCTGGCTG 0.557000 28 215 0 0 0.007291 0 0 CPE 1363 broad.mit.edu 37 4 166405735 166405735 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:166405735G>T ENST00000402744.4 + 5 1232 c.952G>T c.(952-954)Gct>Tct p.A318S NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 318 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAACGGTGGTGCTTGGTACAG 0.453000 49 135 1.19451e-25 1.4847e-25 0.014410 1 0 SLC22A4 6583 broad.mit.edu 37 5 131630476 131630476 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:131630476C>G ENST00000200652.3 + 1 341 c.167C>G c.(166-168)gCg>gGg p.A56G P4HA2_ENST00000471826.1_Intron NM_003059.2 NP_003050.2 Q9H015 S22A4_HUMAN solute carrier family 22 (organic cation/zwitterion transporter), member 4 56 body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1) 16 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CCGGACGCCGCGAACCTGAGC 0.682000 13 43 0 0 0.001855 0 0 MAP3K5 4217 broad.mit.edu 37 6 136977581 136977581 + Missense_Mutation SNP A A G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:136977581A>G ENST00000359015.4 - 10 1904 c.1544T>C c.(1543-1545)gTa>gCa p.V515A MAP3K5_ENST00000355845.4_5'UTR NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 515 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) AATTGTCTCTACAATAGACTT 0.383000 35 98 0 0 0.013726 0 0 DGKZ 8525 broad.mit.edu 37 11 46397681 46397681 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:46397681G>C ENST00000454345.1 + 23 2766 c.2641G>C c.(2641-2643)Gag>Cag p.E881Q DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_Missense_Mutation_p.E471Q|DGKZ_ENST00000527911.1_Missense_Mutation_p.E693Q|DGKZ_ENST00000343674.6_Missense_Mutation_p.E709Q|DGKZ_ENST00000532868.2_Missense_Mutation_p.E697Q|DGKZ_ENST00000318201.8_Missense_Mutation_p.E670Q|DGKZ_ENST00000421244.2_Missense_Mutation_p.E693Q|DGKZ_ENST00000395574.3_Missense_Mutation_p.E659Q|DGKZ_ENST00000456247.2_Missense_Mutation_p.E692Q NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 881 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TGCCCACATTGAGAGACTCCA 0.657000 11 61 0 0 0.010729 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764134 140764134 + Silent SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:140764134T>C ENST00000518325.1 + 1 1668 c.1668T>C c.(1666-1668)aaT>aaC p.N556N PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACCAGAATGACAACCCGC 0.602000 34 111 0 0 0.004878 0 0 TRAV14DV4 28669 broad.mit.edu 37 14 22392695 22392695 + RNA SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:22392695C>G ENST00000390440.2 + 0 293 TATCAGGGGTCTTATGACGAG 0.453000 23 77 0 0 0.014323 0 0 VCAN 1462 broad.mit.edu 37 5 82786003 82786003 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:82786003C>A ENST00000265077.3 + 3 722 c.157C>A c.(157-159)Cca>Aca p.P53T VCAN_ENST00000512590.2_Missense_Mutation_p.P5T|VCAN_ENST00000343200.5_Missense_Mutation_p.P53T|VCAN_ENST00000342785.4_Missense_Mutation_p.P53T|VCAN_ENST00000513984.1_Missense_Mutation_p.P53T|VCAN_ENST00000502527.2_Missense_Mutation_p.P53T NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 53 Ig-like V-type. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GCCTACTTTGCCACCCAGTTA 0.453000 39 65 4.92203e-23 6.0834e-23 0.006230 1 0 KCNH1 3756 broad.mit.edu 37 1 211192440 211192440 + Silent SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:211192440G>A ENST00000367007.4 - 6 886 c.717C>T c.(715-717)gtC>gtT p.V239V KCNH1_ENST00000271751.4_Silent_p.V239V NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 239 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TTTTGAAGGAGACATTATAAG 0.418000 11 63 0 0 0.010729 0 0 ZNF846 162993 broad.mit.edu 37 19 9872820 9872820 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:9872820C>A ENST00000397902.2 - 4 580 c.167G>T c.(166-168)aGt>aTt p.S56I ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_Missense_Mutation_p.S56I NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 56 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 AGACATGAGACTACGTTTGAA 0.458000 22 78 6.44725e-10 7.23671e-10 0.014323 1 0 GOLGA3 2802 broad.mit.edu 37 12 133365817 133365817 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:133365817C>T ENST00000204726.3 - 13 3165 c.2607G>A c.(2605-2607)ctG>ctA p.L869L GOLGA3_ENST00000450791.2_Silent_p.L869L|GOLGA3_ENST00000537452.1_Silent_p.L869L|GOLGA3_ENST00000545875.1_Silent_p.L869L|GOLGA3_ENST00000456883.2_Silent_p.L869L NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 869 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TGGTGGCTTTCAGCTCACTGA 0.657000 11 42 0 0 0.010729 0 0 PRLR 5618 broad.mit.edu 37 5 35065601 35065601 + Missense_Mutation SNP C C T rs139147779 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:35065601C>T ENST00000382002.5 - 10 1885 c.1459G>A c.(1459-1461)Gac>Aac p.D487N PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.D386N|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.D386N|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 487 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTATCCTGGTCAGTCTCAGAA 0.493000 19 120 0 0 0.008871 0 0 RYR2 6262 broad.mit.edu 37 1 237711840 237711840 + Missense_Mutation SNP G G T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:237711840G>T ENST00000366574.2 + 26 3333 c.3016G>T c.(3016-3018)Gtg>Ttg p.V1006L RYR2_ENST00000360064.6_Missense_Mutation_p.V1004L|RYR2_ENST00000542537.1_Missense_Mutation_p.V990L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1006 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGCACATAATGTGTGGGCGCG 0.488000 12 30 5.50884e-06 5.90233e-06 0.013537 1 0 ENGASE 64772 broad.mit.edu 37 17 77082418 77082418 + Nonsense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:77082418C>G ENST00000579016.1 + 14 2219 c.2219C>G c.(2218-2220)tCa>tGa p.S740* NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 740 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CTGCTTTATTCAGCCCCTGCA 0.652000 7 59 0 0 0.001984 0 0 SLC47A1 55244 broad.mit.edu 37 17 19470431 19470431 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:19470431G>A ENST00000270570.4 + 14 1285 c.1199G>A c.(1198-1200)aGg>aAg p.R400K SLC47A1_ENST00000395585.1_Missense_Mutation_p.R400K|SLC47A1_ENST00000457293.1_Missense_Mutation_p.R400K|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Missense_Mutation_p.R205K|SLC47A1_ENST00000436810.2_Missense_Mutation_p.R377K NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 400 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) GGTGTTCTGAGGGGGAGTGGA 0.527000 8 196 0 0 0.004482 0 0 ICAM5 7087 broad.mit.edu 37 19 10406060 10406060 + Missense_Mutation SNP G G A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:10406060G>A ENST00000221980.4 + 10 2332 c.2269G>A c.(2269-2271)Gga>Aga p.G757R NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 757 Ig-like C2-type 9. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CTCGCCCCCTGGAGGCGTGCG 0.687000 5 18 0 0 0.001168 0 0 SLC30A10 55532 broad.mit.edu 37 1 220101607 220101607 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:220101607T>C ENST00000366926.3 - 1 337 c.176A>G c.(175-177)tAc>tGc p.Y59C SLC30A10_ENST00000536992.1_Missense_Mutation_p.Y59C|SLC30A10_ENST00000536446.1_Intron NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 59 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) CCGGGCGATGTAGCCGGCGCT 0.701000 3 6 0 0 0.004672 0 0 INPP5F 22876 broad.mit.edu 37 10 121541266 121541266 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:121541266C>G ENST00000361976.2 + 3 464 c.298C>G c.(298-300)Cag>Gag p.Q100E INPP5F_ENST00000369081.1_Missense_Mutation_p.Q4E|INPP5F_ENST00000369083.3_Missense_Mutation_p.Q100E NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 100 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) AATGGAACCTCAGGATCTTGA 0.398000 14 40 0 0 0.002450 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55049204 55049204 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:55049204C>T ENST00000335056.3 + 6 1007 c.969C>T c.(967-969)ctC>ctT p.L323L KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) GAGTACTCCTCTGTCATTCAC 0.453000 24 81 0 0 0.005443 0 0 DCHS2 54798 broad.mit.edu 37 4 155312413 155312413 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:155312413C>G ENST00000357232.3 - 1 36 c.37G>C c.(37-39)Gac>Cac p.D13H DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 13 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ttttctccgtcttcattctct 0.373000 6 35 0 0 0.001168 0 0 NIF3L1 60491 broad.mit.edu 37 2 201760030 201760030 + Nonsense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:201760030C>T ENST00000409020.1 + 4 937 c.643C>T c.(643-645)Cag>Tag p.Q215* NIF3L1_ENST00000359683.4_Nonsense_Mutation_p.Q188*|NIF3L1_ENST00000409357.1_Nonsense_Mutation_p.Q215*|NIF3L1_ENST00000416651.1_Nonsense_Mutation_p.Q215*|NIF3L1_ENST00000409588.1_Nonsense_Mutation_p.Q215* Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) 215 positive regulation of transcription, DNA-dependent transcription factor binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2) 13 GAATTGTACTCAGAAGGCTTT 0.368000 51 118 0 0 0.014410 0 0 NOS3 4846 broad.mit.edu 37 7 150696133 150696133 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr7:150696133C>A ENST00000297494.3 + 8 1273 c.916C>A c.(916-918)Ccc>Acc p.P306T NOS3_ENST00000484524.1_Missense_Mutation_p.P306T|NOS3_ENST00000467517.1_Missense_Mutation_p.P306T|NOS3_ENST00000461406.1_Missense_Mutation_p.P100T NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 306 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CTTCCTTCTGCCCCCCGAGCT 0.642000 68 84 1.37693e-34 1.74765e-34 0.014410 1 0 SLC9C2 284525 broad.mit.edu 37 1 173526632 173526632 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:173526632C>A ENST00000367714.3 - 10 1484 c.1062G>T c.(1060-1062)ttG>ttT p.L354F SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.L252F|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 354 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity GGCTCACTAACAAAATAGTAA 0.308000 23 157 2.39556e-15 2.83855e-15 0.002780 1 0 ALDH7A1 501 broad.mit.edu 37 5 125896781 125896781 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:125896781T>C ENST00000409134.3 - 10 1126 c.907A>G c.(907-909)Att>Gtt p.I303V ALDH7A1_ENST00000553117.1_Missense_Mutation_p.I303V|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.I330V NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 303 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) TTACCAATAATGGCATTGTTT 0.363000 17 100 0 0 0.006122 0 0 CCDC170 80129 broad.mit.edu 37 6 151907150 151907150 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:151907150C>G ENST00000367290.5 + 7 1308 c.1219C>G c.(1219-1221)Cag>Gag p.Q407E CCDC170_ENST00000239374.7_Missense_Mutation_p.Q407E Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 407 TCTTCAGGGTCAGCTGACACA 0.483000 10 40 0 0 0.001855 0 0 CD3EAP 10849 broad.mit.edu 37 19 45912504 45912504 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:45912504G>C ENST00000309424.3 + 3 1766 c.1278G>C c.(1276-1278)aaG>aaC p.K426N CD3EAP_ENST00000589804.1_Missense_Mutation_p.K428N|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 426 Poly-Lys. rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) agaagaagaagaagaaagaga 0.577000 13 27 0 0 0.013537 0 0 DIO2 1734 broad.mit.edu 37 14 80669079 80669079 + Nonsense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:80669079C>A ENST00000557010.1 - 4 1160 c.775G>T c.(775-777)Gag>Tag p.E259* DIO2_ENST00000555750.1_Nonsense_Mutation_p.E295*|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Nonsense_Mutation_p.E259* NM_000793.5|NM_001242502.1|NM_001242503.1 NP_000784.2|NP_001229431.1|NP_001229432.1 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II 259 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) AAATTCTTCTCCAGCCAATGC 0.398000 15 10 8.60227e-14 1.00309e-13 0.004007 1 0 PRKACB 5567 broad.mit.edu 37 1 84700929 84700929 + Missense_Mutation SNP G G C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:84700929G>C ENST00000370689.2 + 10 1261 c.997G>C c.(997-999)Gaa>Caa p.E333Q PRKACB_ENST00000394838.2_Missense_Mutation_p.E340Q|PRKACB_ENST00000370682.3_Missense_Mutation_p.E337Q|PRKACB_ENST00000394839.2_Missense_Mutation_p.E303Q|PRKACB_ENST00000370685.3_Missense_Mutation_p.E380Q NM_001242862.1|NM_002731.2 NP_001229791.1|NP_002722.1 P22694 KAPCB_HUMAN protein kinase, cAMP-dependent, catalytic, beta 333 AGC-kinase C-terminal. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding p.E340K(1)|p.E333K(1)|p.E380K(1) breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1) 16 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) TGACTATGAAGAAGAAGATAT 0.368000 15 55 0 0 0.007413 0 0 SF3B3 23450 broad.mit.edu 37 16 70566441 70566441 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:70566441C>G ENST00000302516.5 + 5 841 c.630C>G c.(628-630)ttC>ttG p.F210L NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 210 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) CACTTACTTTCTATGAGCTAG 0.413000 10 92 0 0 0.008291 0 0 CHD3 1107 broad.mit.edu 37 17 7794291 7794291 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:7794291C>G ENST00000380358.4 + 4 596 c.595C>G c.(595-597)Ctg>Gtg p.L199V CHD3_ENST00000358181.4_Missense_Mutation_p.L140V|CHD3_ENST00000330494.7_Missense_Mutation_p.L140V NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 140 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|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) AACTCTGCTTCTGACCTGGGG 0.562000 27 91 0 0 0.009535 0 0 RXRB 6257 broad.mit.edu 37 6 33164323 33164323 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr6:33164323C>G ENST00000374680.3 - 5 1092 c.881G>C c.(880-882)gGa>gCa p.G294A RXRB_ENST00000374685.4_Missense_Mutation_p.G294A|RXRB_ENST00000413614.2_Missense_Mutation_p.G198A|RXRB_ENST00000544186.1_Missense_Mutation_p.G104A NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 294 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CTCGGGGGCTCCCCCAGCCCC 0.632000 18 105 0 0 0.007413 0 0 MFAP3L 9848 broad.mit.edu 37 4 170912946 170912946 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr4:170912946C>T ENST00000361618.3 - 3 1120 c.813G>A c.(811-813)gtG>gtA p.V271V MFAP3L_ENST00000393704.3_Silent_p.V168V|RP11-6E9.4_ENST00000508955.1_RNA NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 271 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) GAGTATGCCTCACAAAATTCT 0.592000 23 47 0 0 0.005443 0 0 OTOA 146183 broad.mit.edu 37 16 21709155 21709155 + Missense_Mutation SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:21709155C>T ENST00000388958.3 + 9 800 c.799C>T c.(799-801)Cac>Tac p.H267Y OTOA_ENST00000388956.4_Missense_Mutation_p.H188Y|OTOA_ENST00000286149.4_Missense_Mutation_p.H267Y NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 267 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) ATACATGGTTCACCTATCGTT 0.343000 12 78 0 0 0.010729 0 0 NINL 22981 broad.mit.edu 37 20 25457142 25457142 + Missense_Mutation SNP T T A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr20:25457142T>A ENST00000278886.6 - 17 2858 c.2785A>T c.(2785-2787)Agc>Tgc p.S929C NINL_ENST00000422516.1_Intron NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 929 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CCCGCTGCGCTCGCGCCGAAA 0.672000 5 14 0 0 0.000602 0 0 USB1 79650 broad.mit.edu 37 16 58051280 58051280 + Missense_Mutation SNP C C G TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr16:58051280C>G ENST00000219281.3 + 5 657 c.546C>G c.(544-546)ttC>ttG p.F182L USB1_ENST00000539737.2_Missense_Mutation_p.F164L|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000561743.1_Missense_Mutation_p.F131L NM_024598.3 NP_078874.2 U6 snRNA biogenesis 1 ATGCCCAGTTCCTGGACCTGG 0.522000 5 66 0 0 0.000602 0 0 PRUNE 58497 broad.mit.edu 37 1 151006440 151006440 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:151006440C>T ENST00000271620.3 + 8 1248 c.1092C>T c.(1090-1092)gaC>gaT p.D364D PRUNE_ENST00000368935.1_Silent_p.D79D|PRUNE_ENST00000368936.1_Silent_p.D182D|PRUNE_ENST00000368937.1_Silent_p.D129D|PRUNE_ENST00000368934.1_Silent_p.D129D|PRUNE_ENST00000271619.8_Silent_p.D152D NM_021222.1 NP_067045.1 Q86TP1 PRUNE_HUMAN prune exopolyphosphatase 364 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CATATTTTGACTCCATGAAGA 0.527000 11 157 0 0 0.008291 0 0 AHNAK 79026 broad.mit.edu 37 11 62299280 62299280 + Missense_Mutation SNP C C A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:62299280C>A ENST00000378024.4 - 5 2883 c.2609G>T c.(2608-2610)gGc>gTc p.G870V AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 870 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCAGTCTGGGCCTTGAACCTC 0.478000 64 174 2.36135e-34 2.99135e-34 0.014410 1 0 RNF103 7844 broad.mit.edu 37 2 86849937 86849937 + Missense_Mutation SNP T T C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr2:86849937T>C ENST00000237455.4 - 1 1041 c.73A>G c.(73-75)Att>Gtt p.I25V RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 25 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 TACCACACAATGGCCTCAAAA 0.522000 10 34 0 0 0.006214 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102980339 102980339 + Silent SNP C C T TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:102980339C>T ENST00000375735.2 + 1 180 c.36C>T c.(34-36)ttC>ttT p.F12F DYNC2H1_ENST00000398093.3_Silent_p.F12F|DYNC2H1_ENST00000334267.7_Silent_p.F12F NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 12 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GGAAGCTCTTCATCTTCACTA 0.517000 7 49 0 0 0.004482 0 0 TPRG1L 127262 broad.mit.edu 37 1 3544203 3544204 + Frame_Shift_Ins INS - - C TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:3544203_3544204insC ENST00000378344.2 + 4 681_682 c.610_611insC c.(610-612)atcfs p.I204fs TPRG1L_ENST00000344579.5_Frame_Shift_Ins_p.I145fs NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like 204 cell junction|synaptic vesicle endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1) 8 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) TGAGAAGACAGCATCTCTGTGT 0.545 23 97 --- --- --- --- EYA3 2140 broad.mit.edu 37 1 28330898 28330898 + Frame_Shift_Del DEL G G - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:28330898delG ENST00000373871.3 - 11 1182 c.942delC c.(940-942)atfs p.I316fs EYA3_ENST00000545175.1_Frame_Shift_Del_p.I263fs|EYA3_ENST00000540618.1_Frame_Shift_Del_p.I270fs|EYA3_ENST00000436342.2_Frame_Shift_Del_p.I190fs|EYA3_ENST00000373863.3_Frame_Shift_Del_p.I270fs|EYA3_ENST00000373864.1_Frame_Shift_Del_p.I159fs|EYA3_ENST00000471498.1_5'UTR Q99504 EYA3_HUMAN eyes absent homolog 3 (Drosophila) 316 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) GGAAGATGATGATGGTTTCAT 0.353 16 84 --- --- --- --- JUN 3725 broad.mit.edu 37 1 59247894 59247894 + Frame_Shift_Del DEL T T - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:59247894delT ENST00000371222.2 - 1 1891 c.849delA c.(847-849)aafs p.K283fs NM_002228.3 NP_002219.1 P05412 JUN_HUMAN jun proto-oncogene 283 Leucine-zipper. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|kidney(2)|lung(5)|skin(1) 10 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) AGGTTTTCACTTTTTCCTCCA 0.547 A sarcoma OREG0013518 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 75 --- --- --- --- C1orf116 79098 broad.mit.edu 37 1 207198231 207198231 + Splice_Site DEL C C - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:207198231delC ENST00000359470.5 - 3 533 c.e3+1 C1orf116_ENST00000461135.2_Splice_Site NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) GTCTGCCTTACCCCGGGGAGT 0.602 35 105 --- --- --- --- HIST3H3 8290 broad.mit.edu 37 1 228612837 228612837 + Frame_Shift_Del DEL G G - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr1:228612837delG ENST00000366696.1 - 1 189 c.190delC c.(190-192)gcfs p.R64fs NM_003493.2 NP_003484.1 Q16695 H31T_HUMAN histone cluster 3, H3 64 nucleosome assembly|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|lung(2)|prostate(2)|skin(1) 6 Prostate(94;0.0724) GGCAACTTGCGGATTAGCAGC 0.657 8 183 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 6 --- --- --- --- VTRNA2-1 100126299 broad.mit.edu 37 5 135416240 135416241 + RNA INS - - AG TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr5:135416240_135416241insAG ENST00000602301.1 - 0 45_46 NR_030583.2 GATGGACAGATAGAAAGTCCGG 0.485 8 62 --- --- --- --- RGR 5995 broad.mit.edu 37 10 86017689 86017689 + Frame_Shift_Del DEL G G - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr10:86017689delG ENST00000359452.4 + 6 721 c.683delG c.(682-684)tgfs p.W228fs RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR NM_001012720.1|NM_002921.3 NP_001012738.1|NP_002912.2 P47804 RGR_HUMAN retinal G protein coupled receptor 224 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 CTGCTCGGCTGGGGCCCCTAT 0.537 12 61 --- --- --- --- ATM 472 broad.mit.edu 37 11 108143265 108143265 + Frame_Shift_Del DEL A A - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr11:108143265delA ENST00000278616.4 + 21 3469 c.3084delA c.(3082-3084)ctfs p.L1028fs ATM_ENST00000452508.2_Frame_Shift_Del_p.L1028fs NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1028 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TCAGGCATCTAACAAAGGAGA 0.313 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 59 33 --- --- --- --- RAPGEF3 10411 broad.mit.edu 37 12 48151827 48151830 + Frame_Shift_Del DEL CCCA CCCA - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:48151827_48151830delCCCA ENST00000395358.3 - 2 126_129 c.38_41delTGGG c.(37-42)gcfs p.VG13fs RAPGEF3_ENST00000449771.2_Frame_Shift_Del_p.VG13fs|RAPGEF3_ENST00000549151.1_5'UTR|RAPGEF3_ENST00000548919.1_5'UTR|RAPGEF3_ENST00000549347.1_5'UTR|RAPGEF3_ENST00000405493.2_5'UTR|RAPGEF3_ENST00000171000.4_5'UTR|RAPGEF3_ENST00000389212.3_Frame_Shift_Del_p.VG13fs A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 0 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) CACAGCCAGGCCCACCTGCCAGCA 0.657 2 4 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76082490 76082491 + RNA INS - - T rs141632958 TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr12:76082490_76082491insT ENST00000552856.1 - 0 401 cattctTTTTCTTTTTTTTTTT 0.361 4 5 --- --- --- --- MYH7 4625 broad.mit.edu 37 14 23889251 23889251 + Frame_Shift_Del DEL C C - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:23889251delC ENST00000355349.3 - 27 3691 c.3529delG c.(3529-3531)acfs p.D1177fs NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1177 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCCTCCAGGTCCCGCCGCATC 0.682 9 3 --- --- --- --- SERPINA1 5265 broad.mit.edu 37 14 94849053 94849053 + Frame_Shift_Del DEL G G - rs72552402 byFrequency TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr14:94849053delG ENST00000448921.1 - 4 1094 c.522delC c.(520-522)acfs p.T174fs SERPINA1_ENST00000449399.3_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000404814.4_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000402629.1_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000437397.1_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000355814.4_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000393088.4_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000440909.1_Frame_Shift_Del_p.T174fs|SERPINA1_ENST00000393087.4_Frame_Shift_Del_p.T174fs NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 174 T -> H (in Ref. 4; AAA51546). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) TGGCCTCTTCGGTGTCCCCGA 0.473 89 46 --- --- --- --- RP11-160E2.17 0 broad.mit.edu 37 17 18988444 18988444 + RNA DEL A A - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:18988444delA ENST00000442355.2 + 0 272 ccctgtctccaaaaaaaaaaa 0.423 2 4 --- --- --- --- ULK2 9706 broad.mit.edu 37 17 19705093 19705107 + In_Frame_Del DEL AAGGGGAAGGTGAGT AAGGGGAAGGTGAGT - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr17:19705093_19705107delAAGGGGAAGGTGAGT ENST00000395544.4 - 16 1923_1937 c.1424_1438delACTCACCTTCCCCTT c.(1423-1440)ttg>t p.YSPSPL475del ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_In_Frame_Del_p.YSPSPL475del NM_014683.3 NP_055498.3 Q8IYT8 ULK2_HUMAN unc-51 like autophagy activating kinase 2 475 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) TACTTACCCAAAGGGGAAGGTGAGTAAGGCCTAGA 0.479 41 103 --- --- --- --- REXO1 57455 broad.mit.edu 37 19 1827408 1827409 + Frame_Shift_Ins INS - - A TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chr19:1827408_1827409insA ENST00000170168.4 - 2 1473_1474 c.1379_1380insT c.(1378-1380)cacfs p.H460fs NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 460 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCGCTTGTGGGGCTCGGCCG 0.723 4 4 --- --- --- --- GPR112 139378 broad.mit.edu 37 X 135432460 135432460 + Frame_Shift_Del DEL G G - TCGA-78-7539-01A-11D-2063-08 TCGA-78-7539-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx eda8bdf1-626a-417c-8c57-998b4a79872e 7385c065-1d06-4525-b66b-cdcecedcb6b9 g.chrX:135432460delG ENST00000394143.1 + 6 6886 c.6595delG c.(6595-6597)ggfs p.G2199fs GPR112_ENST00000394141.1_Frame_Shift_Del_p.G1994fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.G2199fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.G2136fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.G1994fs NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2199 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CATATCCACTGGGGTGACATA 0.428 60 58 --- --- --- ---