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 OPTC 26254 broad.mit.edu 37 1 203465179 203465179 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:203465179G>A ENST00000367222.2 + 2 162 c.46G>A c.(46-48)Gag>Aag p.E16K NM_014359.3 NP_055174.1 Q9UBM4 OPT_HUMAN opticin 16 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) GGTGCTGCAGGAGACAGGGAC 0.582000 16 21 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20944735 20944735 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr16:20944735G>A ENST00000261383.3 - 62 12091 c.12092C>T c.(12091-12093)aCg>aTg p.T4031M DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 4031 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AATCTGCATCGTTTTCCTGTC 0.507000 40 88 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174869119 174869119 + Silent SNP G G A rs141925440 TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr5:174869119G>A ENST00000393752.2 - 2 1976 c.984C>T c.(982-984)ccC>ccT p.P328P NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 328 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) CATAAATGATGGGGTTCAAGG 0.483000 30 44 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18837109 18837109 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr12:18837109C>T ENST00000266505.7 - 14 1959 c.1696G>A c.(1696-1698)Gaa>Aaa p.E566K PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000435379.1_Missense_Mutation_p.E371K|PLCZ1_ENST00000447925.2_Missense_Mutation_p.E564K|PLCZ1_ENST00000539875.1_Missense_Mutation_p.E373K|PLCZ1_ENST00000538330.1_Missense_Mutation_p.E348K|PLCZ1_ENST00000534932.1_Missense_Mutation_p.E47K Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 566 C2. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CCAAGAAATTCATTTCCTGCT 0.333000 23 74 0 0 1 0 0 OR6C68 403284 broad.mit.edu 37 12 55886345 55886345 + Missense_Mutation SNP C C A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr12:55886345C>A ENST00000379662.1 + 1 199 c.199C>A c.(199-201)Caa>Aaa p.Q67K RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.Q62K|RP11-110A12.2_ENST00000555138.1_RNA A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 TTTTTTTCTCCAAAATTTATC 0.363000 50 125 4.86159e-25 4.9508e-25 1 1 0 HECW1 23072 broad.mit.edu 37 7 43519247 43519247 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr7:43519247C>T ENST00000395891.1 + 17 3743 c.3138C>T c.(3136-3138)ttC>ttT p.F1046F HECW1_ENST00000453890.1_Silent_p.F1012F NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1046 WW 2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CTACCACTTTCATTGACCCCC 0.507000 47 164 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179433209 179433209 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:179433209C>T ENST00000589042.1 - 326 77874 c.77650G>A c.(77650-77652)Gaa>Aaa p.E25884K TTN_ENST00000359218.5_Missense_Mutation_p.E16944K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24243K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23316K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17011K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E16819K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24243 Fibronectin type-III 88. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E23314K(1)|p.E17011K(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) GTTACAATTTCGATGGATGCT 0.388000 23 67 0 0 1 0 0 SAFB2 9667 broad.mit.edu 37 19 5592769 5592769 + Silent SNP G G A rs138974953 byFrequency TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr19:5592769G>A ENST00000252542.4 - 16 2601 c.2337C>T c.(2335-2337)caC>caT p.H779H NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 779 Arg-rich.|Interacts with SAFB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TGTCGATGGCGTGGTCCTGGT 0.602000 3 19 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47283859 47283859 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:47283859C>T ENST00000271153.4 + 11 1362 c.1326C>T c.(1324-1326)gcC>gcT p.A442A CYP4B1_ENST00000371919.4_Silent_p.A428A|CYP4B1_ENST00000452782.2_Silent_p.A280A|CYP4B1_ENST00000371923.4_Silent_p.A443A P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 442 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) ATCCCTTTGCCTTTATGCCCT 0.562000 30 74 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11576105 11576105 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:11576105C>T ENST00000294484.6 + 6 1774 c.1636C>T c.(1636-1638)Cac>Tac p.H546Y PTCHD2_ENST00000389575.3_Missense_Mutation_p.H546Y NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 546 SSD. cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCAGGCCACCCACCTGGAAGA 0.592000 10 31 0 0 1 0 0 RCAN2 10231 broad.mit.edu 37 6 46216612 46216612 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:46216612G>A ENST00000371374.1 - 3 438 c.247C>T c.(247-249)Cgg>Tgg p.R83W RCAN2_ENST00000330430.6_Missense_Mutation_p.R37W|RCAN2_ENST00000405162.1_Missense_Mutation_p.R83W|RCAN2_ENST00000306764.7_Missense_Mutation_p.R83W NM_001251974.1 NP_001238903.1 Q14206 RCAN2_HUMAN regulator of calcineurin 2 37 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 TCATAAGTCCGAAACAGTCCC 0.403000 21 48 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149247692 149247692 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:149247692C>T ENST00000407073.1 + 12 4789 c.3792C>T c.(3790-3792)ttC>ttT p.F1264F MBD5_ENST00000404807.1_Silent_p.F1497F NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1264 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) AGGAAAATTTCAGGTATAATA 0.408000 29 73 0 0 1 0 0 CHIAP2 149620 broad.mit.edu 37 1 111824209 111824209 + RNA SNP G G A rs6537690 by1000genomes TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:111824209G>A ENST00000369743.4 + 0 93 NR_003928.1 TTCACCAACTGGGCCCAGAAC 0.517000 3 24 0 0 1 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68810234 68810234 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr4:68810234C>T ENST00000334830.7 - 3 1001 c.255G>A c.(253-255)gtG>gtA p.V85V TMPRSS11A_ENST00000396188.2_Intron|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Intron Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 85 SEA. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 TTACCTGACTCACCAAATTTT 0.348000 43 93 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 39 0 0 1 0 0 OR3A2 4995 broad.mit.edu 37 17 3181519 3181519 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:3181519G>A ENST00000408891.2 - 1 749 c.711C>T c.(709-711)atC>atT p.I237I NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 237 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 CCACTGAACGGATTCGTAGAA 0.522000 31 46 0 0 1 0 0 BOLA1 51027 broad.mit.edu 37 1 149871725 149871725 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:149871725C>T ENST00000369153.2 + 3 777 c.113C>T c.(112-114)aCg>aTg p.T38M BOLA1_ENST00000369150.1_Missense_Mutation_p.T38M|BOLA1_ENST00000369152.5_Missense_Mutation_p.T38M|BOLA1_ENST00000476344.1_3'UTR Q9Y3E2 BOLA1_HUMAN bolA family member 1 38 extracellular region protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GCCATTCGCACGAAGTTGGAG 0.687000 10 45 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1584067 1584067 + Missense_Mutation SNP A A T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:1584067A>T ENST00000572621.1 - 7 1316 c.1051T>A c.(1051-1053)Tac>Aac p.Y351N PRPF8_ENST00000304992.6_Missense_Mutation_p.Y351N Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 351 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GGGTCAAAGTAGAAAGCTGGC 0.473000 37 99 0 0 1 0 0 OR2C3 81472 broad.mit.edu 37 1 247695394 247695394 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:247695394C>T ENST00000366487.3 - 2 781 c.420G>A c.(418-420)caG>caA p.Q140Q GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-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) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CAAGGCAAAGCTGTGGATGCA 0.597000 20 24 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186545428 186545428 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr4:186545428G>A ENST00000431808.1 - 14 1706 c.1143C>T c.(1141-1143)tcC>tcT p.S381S SORBS2_ENST00000284776.7_Silent_p.S381S|SORBS2_ENST00000418609.1_Silent_p.S285S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.S481S O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 381 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CACAGCTCCGGGATTTGATTT 0.532000 20 60 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152554150 152554150 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:152554150C>T ENST00000397345.3 - 14 1367 c.1165G>A c.(1165-1167)Gaa>Aaa p.E389K NEB_ENST00000409198.1_Missense_Mutation_p.E389K|NEB_ENST00000427231.2_Missense_Mutation_p.E389K|NEB_ENST00000172853.10_Missense_Mutation_p.E389K|NEB_ENST00000603639.1_Missense_Mutation_p.E389K|NEB_ENST00000604864.1_Missense_Mutation_p.E389K NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 389 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) TCATAGTTTTCCTTGTATAGT 0.348000 14 51 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186307184 186307184 + Missense_Mutation SNP A A C TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:186307184A>C ENST00000367478.3 - 31 4639 c.4343T>G c.(4342-4344)cTt>cGt p.L1448R NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1448 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTGTGCTTTAAGTTCTTCATA 0.269000 T NTRK1 papillary thyroid 14 75 0 0 1 0 0 VNN3 55350 broad.mit.edu 37 6 133045892 133045892 + Silent SNP A A T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:133045892A>T ENST00000207771.3 - 6 1125 c.1053T>A c.(1051-1053)ctT>ctA p.L351L VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000275223.3_3'UTR vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) TATTTCTCTTAAGCTTGGTGA 0.418000 15 27 0 0 1 0 0 FLOT2 2319 broad.mit.edu 37 17 27210166 27210166 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:27210166G>A ENST00000394906.2 - 6 548 c.471C>T c.(469-471)gtC>gtT p.V157V FLOT2_ENST00000394908.4_Silent_p.V102V|FLOT2_ENST00000585169.1_Silent_p.V102V|FLOT2_ENST00000577789.1_5'UTR Q14254 FLOT2_HUMAN flotillin 2 102 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) TCTGCAGGACGACGTTTTTGA 0.572000 37 84 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6908743 6908743 + Missense_Mutation SNP A A G TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr19:6908743A>G ENST00000312053.4 + 10 1119 c.1082A>G c.(1081-1083)gAc>gGc p.D361G EMR1_ENST00000450315.3_Missense_Mutation_p.D184G|EMR1_ENST00000381404.4_Missense_Mutation_p.D309G|EMR1_ENST00000381407.5_Missense_Mutation_p.D220G|EMR1_ENST00000250572.8_Missense_Mutation_p.D361G NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 361 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) AGCGTTCTGGACAAAGTGTGT 0.388000 42 60 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956224 18956224 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr11:18956224G>A ENST00000302797.3 - 1 332 c.108C>T c.(106-108)atC>atT p.I36I MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 36 I -> V (in dbSNP:rs11024885). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CAAGGGAAACGATGCACGTCA 0.557000 53 173 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22806092 22806092 + Missense_Mutation SNP T T C TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr18:22806092T>C ENST00000361524.3 - 4 1938 c.1790A>G c.(1789-1791)aAt>aGt p.N597S ZNF521_ENST00000538137.2_Missense_Mutation_p.N597S|ZNF521_ENST00000584787.1_Missense_Mutation_p.N377S NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 597 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTTCTTCCCATTGTGGATATA 0.443000 T PAX5 ALL 27 46 0 0 1 0 0 AP3B1 8546 broad.mit.edu 37 5 77458735 77458735 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr5:77458735G>A ENST00000255194.6 - 13 1446 c.1271C>T c.(1270-1272)aCt>aTt p.T424I AP3B1_ENST00000519295.1_Missense_Mutation_p.T375I NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 424 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) AGTCTGAATAGTGGCTGCTGC 0.408000 Hermansky-Pudlak syndrome 12 110 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14511989 14511989 + Missense_Mutation SNP A A G TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr18:14511989A>G ENST00000358970.5 - 11 1536 c.1537T>C c.(1537-1539)Tct>Cct p.S513P NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 513 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGACTAAGAGAAAGCTAAGTA 0.318000 11 36 0 0 1 0 0 OR10A3 26496 broad.mit.edu 37 11 7960730 7960730 + Missense_Mutation SNP A A C TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr11:7960730A>C ENST00000360759.3 - 1 411 c.338T>G c.(337-339)tTt>tGt p.F113C NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCCCAGGAGAAAACATTCAGT 0.408000 59 88 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71335029 71335029 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:71335029G>A ENST00000392650.3 - 45 6216 c.6216C>T c.(6214-6216)tcC>tcT p.S2072S SDK2_ENST00000388726.3_Silent_p.S2053S|SDK2_ENST00000410094.1_5'UTR NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 2072 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GGTTGACAAAGGAGTGGGCCT 0.592000 18 38 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47200581 47200581 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:47200581C>T ENST00000296861.2 - 6 2281 c.1888G>A c.(1888-1890)Gaa>Aaa p.E630K NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 630 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity p.E630K(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) CCAATAATTTCGAATAGCCGG 0.493000 58 129 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185798382 185798382 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:185798382C>T ENST00000302277.6 + 3 902 c.308C>T c.(307-309)tCc>tTc p.S103F NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 103 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GCATCTAAATCCAGGAAAGAT 0.373000 34 47 0 0 1 0 0 BHMT 635 broad.mit.edu 37 5 78422045 78422045 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr5:78422045C>T ENST00000274353.5 + 6 909 c.802C>T c.(802-804)Cca>Tca p.P268S DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.P115S NM_001713.2 NP_001704.2 Q93088 BHMT1_HUMAN betaine--homocysteine S-methyltransferase 268 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding p.P268T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2) 29 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) CCCAGAATTCCCATTTGGTAA 0.433000 17 42 0 0 1 0 0 PARP15 165631 broad.mit.edu 37 3 122334616 122334616 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:122334616C>T ENST00000310366.4 + 1 155 c.60C>T c.(58-60)ttC>ttT p.F20F PARP15_ENST00000465304.1_Intron|PARP15_ENST00000493645.1_Silent_p.F20F|PARP15_ENST00000464300.2_Intron|PARP15_ENST00000483793.1_Intron NM_152615.1 NP_689828.1 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0531) GTAACTGTTTCTATTTCCAGG 0.353000 22 55 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 406941 406941 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr9:406941C>T ENST00000432829.2 + 28 3514 c.3198C>T c.(3196-3198)tcC>tcT p.S1066S DOCK8_ENST00000469391.1_Silent_p.S1034S|DOCK8_ENST00000453981.1_Silent_p.S1134S|DOCK8_ENST00000382329.1_Silent_p.S601S NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1134 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ACTCAAGCTCCTGCTCCAGCT 0.532000 44 77 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17279836 17279836 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:17279836C>T ENST00000375541.5 + 21 3115 c.3046C>T c.(3046-3048)Ctg>Ttg p.L1016L CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1016 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCGGGCCCAGCTGCAGAGTCA 0.687000 4 10 0 0 1 0 0 ZNF215 7762 broad.mit.edu 37 11 6977370 6977370 + Missense_Mutation SNP T T C TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr11:6977370T>C ENST00000278319.5 + 7 1750 c.1162T>C c.(1162-1164)Ttc>Ctc p.F388L ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.F388L NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 388 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) TGGGAAAGCCTTCTGCCGAAG 0.383000 31 34 0 0 1 0 0 SND1 27044 broad.mit.edu 37 7 127484404 127484404 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr7:127484404C>T ENST00000354725.3 + 12 1464 c.1270C>T c.(1270-1272)Cca>Tca p.P424S NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 424 TNase-like 3. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 CTACATTAGACCAGCCAGCCC 0.522000 19 28 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724441 140724441 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr5:140724441C>T ENST00000253812.6 + 1 841 c.841C>T c.(841-843)Cta>Tta p.L281L PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCTTATATTCTAGATAAAAT 0.448000 16 48 0 0 1 0 0 FAM193B 54540 broad.mit.edu 37 5 176965996 176965996 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr5:176965996G>A ENST00000443375.2 - 3 1582 c.24C>T c.(22-24)ctC>ctT p.L8L FAM193B_ENST00000514747.1_Silent_p.L121L|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000508298.1_Intron Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 0 kidney(1)|large_intestine(3) 4 TCTCGCCTAGGAGATTCTTGA 0.552000 29 72 0 0 1 0 0 LANCL1 10314 broad.mit.edu 37 2 211300994 211300994 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:211300994G>A ENST00000443314.1 - 7 1338 c.996C>T c.(994-996)ttC>ttT p.F332F AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000441020.3_Silent_p.F332F|LANCL1_ENST00000233714.4_Silent_p.F332F|LANCL1_ENST00000450366.2_Silent_p.F332F|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000431941.2_Silent_p.F332F O43813 LANC1_HUMAN LanC lantibiotic synthetase component C-like 1 (bacterial) 332 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) AGAGTGTCAGGAAGGCATAGG 0.507000 33 85 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871160 51871160 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr20:51871160C>T ENST00000371497.5 + 2 2050 c.1163C>T c.(1162-1164)tCc>tTc p.S388F TSHZ2_ENST00000329613.6_Missense_Mutation_p.S385F|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S385F NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 388 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TGTGGGAGCTCCCATGACACC 0.532000 36 74 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146313 156146313 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:156146313C>T ENST00000368285.3 + 15 2078 c.1811C>T c.(1810-1812)aCt>aTt p.T604I SEMA4A_ENST00000355014.2_Missense_Mutation_p.T604I|SEMA4A_ENST00000368282.1_Missense_Mutation_p.T604I|SEMA4A_ENST00000368286.2_Missense_Mutation_p.T472I|SEMA4A_ENST00000368284.1_Missense_Mutation_p.T472I NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 604 Ig-like C2-type. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) GCCTCTTCCACTGTCTACAAT 0.562000 15 66 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62299059 62299059 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr11:62299059G>A ENST00000378024.4 - 5 3104 c.2830C>T c.(2830-2832)Ccc>Tcc p.P944S AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 944 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) GAGATCTTGGGGGCCTTGATA 0.473000 110 152 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43052726 43052726 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr20:43052726G>A ENST00000316099.3 + 8 1050 c.961G>A c.(961-963)Gac>Aac p.D321N HNF4A_ENST00000415691.1_Missense_Mutation_p.D321N|HNF4A_ENST00000457232.1_Missense_Mutation_p.D299N|HNF4A_ENST00000443598.2_Missense_Mutation_p.D321N NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 321 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GAGCTTGGAGGACTACATCAA 0.602000 7 21 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18643338 18643338 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chrX:18643338C>T ENST00000379989.3 + 18 2752 c.2467C>T c.(2467-2469)Ccc>Tcc p.P823S CDKL5_ENST00000379996.3_Missense_Mutation_p.P823S NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 823 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) GGAGTGGCGCCCCGAGAAGAT 0.537000 32 81 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215799198 215799198 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:215799198C>T ENST00000366943.2 - 73 15992 c.15606G>A c.(15604-15606)gaG>gaA p.E5202E USH2A_ENST00000307340.3_Silent_p.E5178E O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 5178 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCATCAGGTCCTCTTCATCCA 0.388000 HNSCC(13;0.011) 54 65 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28608113 28608113 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr13:28608113G>A ENST00000380982.4 - 15 1934 c.1853C>T c.(1852-1854)tCa>tTa p.S618L FLT3_ENST00000537084.1_Missense_Mutation_p.S618L|FLT3_ENST00000241453.7_Missense_Mutation_p.S618L P36888 FLT3_HUMAN fms-related tyrosine kinase 3 618 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.G617_S618ins21(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AAAAGCACCTGATCCTAGTAC 0.403000 """Mis, O""" """AML, ALL""" 69 145 0 0 1 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492807 21492807 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr20:21492807C>T ENST00000377142.4 - 2 932 c.576G>A c.(574-576)atG>atA p.M192I NKX2-2-AS1_ENST00000549659.1_RNA NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 192 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GCGTCACCTCCATACCTTTCT 0.667000 14 28 0 0 1 0 0 IGHV3-30 28439 broad.mit.edu 37 14 106791075 106791075 + RNA SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr14:106791075G>A ENST00000390613.2 - 0 360 CGTGTTCTTGGAATTGTCTCT 0.502000 106 1212 0 0 1 0 0 NSRP1 84081 broad.mit.edu 37 17 28445171 28445171 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:28445171G>A ENST00000247026.5 + 2 157 c.94G>A c.(94-96)Gat>Aat p.D32N NSRP1_ENST00000479218.2_Silent_p.*42*|NSRP1_ENST00000584423.1_Missense_Mutation_p.D32N|NSRP1_ENST00000540900.3_Intron NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 32 Poly-Asp. developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 GTTTGGGAATGATTCTGATGA 0.338000 43 99 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011539 46011539 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr21:46011539G>A ENST00000400368.1 - 1 847 c.827C>T c.(826-828)tCt>tTt p.S276F TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 276 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGAAGCCCCAGAGCAGACGGG 0.647000 56 156 0 0 1 0 0 ZER1 10444 broad.mit.edu 37 9 131513739 131513739 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr9:131513739G>A ENST00000291900.2 - 6 1397 c.991C>T c.(991-993)Ctc>Ttc p.L331F NM_006336.2 NP_006327.2 Q7Z7L7 ZER1_HUMAN zyg-11 related, cell cycle regulator 331 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 15 TTCTCAAAGAGCCCGAGGAAC 0.587000 44 39 0 0 1 0 0 TMEM200A 114801 broad.mit.edu 37 6 130761678 130761678 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:130761678G>A ENST00000392429.1 + 2 2489 c.111G>A c.(109-111)aaG>aaA p.K37K TMEM200A_ENST00000545622.1_Silent_p.K37K|TMEM200A_ENST00000296978.3_Silent_p.K37K NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 37 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CCCAAGAGAAGAAGCCCATCA 0.537000 46 79 0 0 1 0 0 C3orf30 152405 broad.mit.edu 37 3 118865231 118865231 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:118865231C>T ENST00000295622.1 + 1 235 c.195C>T c.(193-195)tcC>tcT p.S65S NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 65 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) AGGCTGAATCCAGCATATTTA 0.522000 12 26 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800759 185800759 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:185800759C>T ENST00000302277.6 + 4 1230 c.636C>T c.(634-636)atC>atT p.I212I NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 212 intracellular zinc ion binding p.I212I(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GACACAAAATCGGCTTTTCTT 0.438000 33 98 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402594 248402594 + Missense_Mutation SNP C C T rs61743231 TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:248402594C>T ENST00000306687.1 + 1 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|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;0.0245) GGCTTATGACCGCTATGTGGC 0.463000 32 137 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30695081 30695081 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr8:30695081G>A ENST00000256246.2 - 3 7644 c.7570C>T c.(7570-7572)Cct>Tct p.P2524S NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2524 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TCTAGATCAGGATGGACATCT 0.373000 31 96 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977359 29977359 + RNA SNP G G A rs3831361 by1000genomes TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:29977359G>A ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA ATTTGTTCATGCCTTCCCTTT 0.453000 7 89 0 0 1 0 0 PVALB 5816 broad.mit.edu 37 22 37211171 37211171 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr22:37211171C>T ENST00000216200.5 - 3 225 c.170G>A c.(169-171)gGc>gAc p.G57D PVALB_ENST00000417718.2_Missense_Mutation_p.G57D|PVALB_ENST00000404171.1_Missense_Mutation_p.G25D NM_002854.2 NP_002845.1 P20472 PRVA_HUMAN parvalbumin 57 EF-hand 1. calcium ion binding large_intestine(1)|lung(1)|skin(1) 3 CTCGATGAAGCCACTTTTGTC 0.557000 19 33 0 0 1 0 0 BEND4 389206 broad.mit.edu 37 4 42122105 42122105 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr4:42122105G>A ENST00000502486.1 - 5 1932 c.1353C>T c.(1351-1353)cgC>cgT p.R451R BEND4_ENST00000504360.1_Intron NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 451 BEN. NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 GATCCAGAGGGCGTCTTTCGG 0.502000 13 22 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113377521 113377521 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:113377521C>T ENST00000316407.4 - 7 3418 c.3008G>A c.(3007-3009)gGt>gAt p.G1003D KIAA2018_ENST00000478658.1_Missense_Mutation_p.G1003D|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1003 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TGTAGTTAAACCTTGCCCCTT 0.383000 61 149 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6472801 6472801 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr10:6472801C>T ENST00000263125.5 - 17 2035 c.1936G>A c.(1936-1938)Gag>Aag p.E646K PRKCQ_ENST00000539722.1_Missense_Mutation_p.E521K|PRKCQ_ENST00000397176.2_Missense_Mutation_p.E583K NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 646 AGC-kinase C-terminal. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 GGGTCAATCTCCTTCCGTTCA 0.607000 19 32 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67753871 67753871 + Missense_Mutation SNP A A C TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr18:67753871A>C ENST00000255674.6 - 32 4638 c.4352T>G c.(4351-4353)aTt>aGt p.I1451S RTTN_ENST00000437017.1_Missense_Mutation_p.I1451S|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1451 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) ATCCTTTATAATTTCTGTAGG 0.254000 66 152 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35518799 35518799 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:35518799G>A ENST00000353139.5 - 42 5726 c.5245C>T c.(5245-5247)Cca>Tca p.P1749S ACACA_ENST00000394406.2_Missense_Mutation_p.P1712S|ACACA_ENST00000360679.3_Missense_Mutation_p.P1654S|ACACA_ENST00000335166.5_Missense_Mutation_p.P1634S NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1712 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TAGATGCGTGGAATACCTTCT 0.463000 40 123 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121341969 121341969 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:121341969C>T ENST00000338040.4 + 3 2107 c.1693C>T c.(1693-1695)Cat>Tat p.H565Y NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 565 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) TCTTTTGGGTCATGGAGGAAA 0.512000 37 86 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70179621 70179621 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr11:70179621G>A ENST00000253925.7 + 10 1473 c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.E420K NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 420 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) ACGACAGATGGAAGCACAGTT 0.537000 9 35 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 406940 406940 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr9:406940C>T ENST00000432829.2 + 28 3513 c.3197C>T c.(3196-3198)tCc>tTc p.S1066F DOCK8_ENST00000469391.1_Missense_Mutation_p.S1034F|DOCK8_ENST00000453981.1_Missense_Mutation_p.S1134F|DOCK8_ENST00000382329.1_Missense_Mutation_p.S601F NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1134 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AACTCAAGCTCCTGCTCCAGC 0.527000 45 77 0 0 1 0 0 ERCC3 2071 broad.mit.edu 37 2 128047035 128047035 + Missense_Mutation SNP G G C TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:128047035G>C ENST00000493187.2 - 6 971 c.508C>G c.(508-510)Cga>Gga p.R170G ERCC3_ENST00000285398.2_Missense_Mutation_p.R234G P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 234 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|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 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TCTGTCACTCGGGAAGTGGAG 0.468000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 16 64 0 0 1 0 0 DEAF1 10522 broad.mit.edu 37 11 681007 681007 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr11:681007G>A ENST00000382409.3 - 7 1437 c.953C>T c.(952-954)tCc>tTc p.S318F DEAF1_ENST00000338675.6_Intron|DEAF1_ENST00000525904.1_5'UTR NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 318 embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GTTCTTGGGGGAGTCCTTCTT 0.527000 17 39 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37770283 37770283 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr22:37770283G>A ENST00000402918.1 - 3 2077 c.1292C>T c.(1291-1293)tCt>tTt p.S431F ELFN2_ENST00000349653.3_Missense_Mutation_p.S431F|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 431 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) GACGTTGACAGACTTCTGCTT 0.607000 37 86 0 0 1 0 0 CDC14B 8555 broad.mit.edu 37 9 99266040 99266040 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr9:99266040G>A ENST00000375241.1 - 14 1943 c.1492C>T c.(1492-1494)Cgt>Tgt p.R498C CDC14B_ENST00000265659.2_Intron|CDC14B_ENST00000375240.3_Missense_Mutation_p.R459C|CDC14B_ENST00000463569.1_3'UTR|CDC14B_ENST00000375242.3_Missense_Mutation_p.R461C NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 498 activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) TTTACTTAACGCAAGACTGTT 0.383000 7 96 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94652062 94652062 + Silent SNP T T C rs144875752 byFrequency TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:94652062T>C ENST00000260526.6 - 16 1955 c.1773A>G c.(1771-1773)tcA>tcG p.S591S ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 591 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TACCAGTTTCTGAAGGGGAAG 0.378000 11 176 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114304990 114304990 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr9:114304990C>T ENST00000309235.5 + 6 1933 c.1775C>T c.(1774-1776)tCa>tTa p.S592L ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 592 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 AGGCAGAATTCATGCCTTACC 0.398000 59 55 0 0 1 0 0 FCAMR 83953 broad.mit.edu 37 1 207135788 207135788 + Missense_Mutation SNP T T C TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:207135788T>C ENST00000324852.4 - 5 896 c.422A>G c.(421-423)tAc>tGc p.Y141C FCAMR_ENST00000400962.3_Missense_Mutation_p.Y141C|FCAMR_ENST00000450945.2_Missense_Mutation_p.Y141C NM_001170631.1 NP_001164102.1 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity 96 Ig-like V-type. integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1) 11 ACGGCACCAGTACTTCCTCTG 0.577000 17 55 0 0 1 0 0 LOC643201 643201 broad.mit.edu 37 5 175572158 175572158 + RNA SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr5:175572158C>T ENST00000515403.1 - 0 2959 RP11-826N14.4_ENST00000510029.1_lincRNA NR_036494.1 AACACCACTTCATACTGAGGT 0.378000 3 14 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28268987 28268987 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:28268987C>T ENST00000405948.2 + 7 1776 c.1356C>T c.(1354-1356)gtC>gtT p.V452V PGBD1_ENST00000259883.3_Silent_p.V452V NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 452 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 GCTTGGAAGTCACAGTTCAGG 0.363000 89 164 0 0 1 0 0 TRBV2 28620 broad.mit.edu 37 7 142000775 142000775 + RNA SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr7:142000775C>T ENST00000455382.2 + 0 29 TCCACAGGACCAGATGCCTGA 0.542000 10 48 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34150133 34150133 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chrX:34150133G>A ENST00000346193.3 - 1 314 c.263C>T c.(262-264)gCt>gTt p.A88V NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 88 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 TTTGGGGTCAGCTTGGGGACC 0.542000 42 64 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). 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 p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) 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) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 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 75 98 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55794578 55794578 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr12:55794578C>T ENST00000379665.2 + 1 365 c.266C>T c.(265-267)aCc>aTc p.T89I NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 GGAGACACAACCATTTCCTAT 0.353000 37 120 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508414 37508414 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr10:37508414G>A ENST00000374660.1 + 40 4062 c.3963G>A c.(3961-3963)agG>agA p.R1321R ANKRD30A_ENST00000361713.1_Silent_p.R1202R|ANKRD30A_ENST00000602533.1_Silent_p.R1202R Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1258 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 AAGCTCAAAGGAAATCCAAAA 0.368000 17 34 0 0 1 0 0 ZNF605 100289635 broad.mit.edu 37 12 133502309 133502309 + Missense_Mutation SNP T T A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr12:133502309T>A ENST00000360187.4 - 5 1924 c.1576A>T c.(1576-1578)Att>Ttt p.I526F ZNF605_ENST00000392321.3_Missense_Mutation_p.I557F NM_183238.3 NP_899061.1 Q86T29 ZN605_HUMAN zinc finger protein 605 526 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00227)|all_epithelial(31;0.142) OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06) CCTGTATGAATTCTCTGATGC 0.423000 43 87 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56087025 56087025 + Missense_Mutation SNP T T C TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr12:56087025T>C ENST00000257880.7 - 21 2963 c.2744A>G c.(2743-2745)aAt>aGt p.N915S ITGA7_ENST00000452168.2_Missense_Mutation_p.N778S|ITGA7_ENST00000257879.6_Missense_Mutation_p.N871S|ITGA7_ENST00000394229.2_Missense_Mutation_p.N871S|ITGA7_ENST00000347027.6_Missense_Mutation_p.N865S|ITGA7_ENST00000394230.2_Missense_Mutation_p.N875S|ITGA7_ENST00000555728.1_Missense_Mutation_p.N915S|ITGA7_ENST00000553804.1_Missense_Mutation_p.N875S Q13683 ITA7_HUMAN integrin, alpha 7 915 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CCACTTCCCATTGGCAATCTC 0.577000 27 56 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692572 135692572 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr5:135692572G>A ENST00000513104.1 - 2 786 c.504C>T c.(502-504)atC>atT p.I168I TRPC7_ENST00000355180.3_Silent_p.I168I|TRPC7_ENST00000426057.2_Silent_p.I168I NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 168 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCGCCAGGATGATGGGCGTGA 0.637000 43 123 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247013018 247013018 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:247013018C>T ENST00000366508.1 - 33 6531 c.6395G>A c.(6394-6396)aGc>aAc p.S2132N AHCTF1_ENST00000391829.2_Missense_Mutation_p.S2097N|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S2106N|AHCTF1_ENST00000470300.1_5'UTR Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 2097 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CCGAGTCCTGCTGCTGCGGGA 0.453000 34 135 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52052534 52052534 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:52052534G>A ENST00000340057.1 + 2 206 c.161G>A c.(160-162)cGg>cAg p.R54Q NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 54 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity p.R54L(1)|p.R54Q(1) endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) ATCCATAACCGGAATACCAAT 0.458000 43 152 0 0 1 0 0 GOLIM4 27333 broad.mit.edu 37 3 167750415 167750415 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:167750415G>A ENST00000470487.1 - 9 1758 c.1069C>T c.(1069-1071)Ctt>Ttt p.L357F GOLIM4_ENST00000309027.4_Missense_Mutation_p.L329F NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 357 Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TCCTCCTCAAGATGTTCTGCT 0.572000 48 147 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101105711 101105711 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr8:101105711G>A ENST00000360863.6 - 3 275 c.81C>T c.(79-81)ttC>ttT p.F27F RGS22_ENST00000523437.1_Silent_p.F27F|RGS22_ENST00000523287.1_5'UTR NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 27 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.F27L(2) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGTCTACAAGGAAATCATCTG 0.264000 35 86 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121000846 121000846 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr11:121000846C>T ENST00000392793.1 + 10 3138 c.2867C>T c.(2866-2868)tCt>tTt p.S956F TECTA_ENST00000264037.2_Missense_Mutation_p.S956F O75443 TECTA_HUMAN tectorin alpha 956 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTCTGTGACTCTGTGGCCCGG 0.597000 35 35 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94780401 94780401 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr14:94780401G>A ENST00000341584.3 - 2 731 c.585C>T c.(583-585)ctC>ctT p.L195L NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 195 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TGACCAGGACGAGGATGGCTG 0.498000 27 86 0 0 1 0 0 NLRX1 79671 broad.mit.edu 37 11 119043077 119043077 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr11:119043077C>T ENST00000409109.1 + 3 670 c.83C>T c.(82-84)cCc>cTc p.P28L NLRX1_ENST00000292199.2_Missense_Mutation_p.P28L|NLRX1_ENST00000409991.1_Missense_Mutation_p.P28L|NLRX1_ENST00000525863.1_Missense_Mutation_p.P28L|NLRX1_ENST00000409265.4_Missense_Mutation_p.P28L Q86UT6 NLRX1_HUMAN NLR family member X1 28 innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GATCGTATCCCCTTCCTGATC 0.527000 20 44 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34150050 34150050 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chrX:34150050C>T ENST00000346193.3 - 1 397 c.346G>A c.(346-348)Gcg>Acg p.A116T NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 116 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 TCTACGAACGCCTTCCGTGCT 0.547000 44 59 0 0 1 0 0 LPO 4025 broad.mit.edu 37 17 56343598 56343598 + Missense_Mutation SNP G G A rs144914036 byFrequency TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:56343598G>A ENST00000262290.4 + 11 1920 c.1604G>A c.(1603-1605)cGc>cAc p.R535H LPO_ENST00000543544.1_Missense_Mutation_p.R476H|LPO_ENST00000421678.2_Missense_Mutation_p.R452H|LPO_ENST00000582328.1_Missense_Mutation_p.R452H NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 535 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.R535H(1) breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GGAGAGCTGCGCAACAAGCTT 0.547000 15 37 0 0 1 0 0 GNLY 10578 broad.mit.edu 37 2 85922457 85922457 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:85922457C>T ENST00000409696.3 + 3 304 c.22C>T c.(22-24)Cgt>Tgt p.R8C GNLY_ENST00000524600.1_Missense_Mutation_p.R50C|GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000263863.4_Missense_Mutation_p.R23C NM_012483.2 NP_036615.2 P22749 GNLY_HUMAN granulysin 23 cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 19 GGTCTTCTCTCGTCTGAGCCC 0.627000 12 22 0 0 1 0 0 OTC 5009 broad.mit.edu 37 X 38260574 38260574 + Missense_Mutation SNP C C A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chrX:38260574C>A ENST00000039007.4 + 5 585 c.433C>A c.(433-435)Caa>Aaa p.Q145K TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR NM_000531.5 NP_000522.3 P00480 OTC_HUMAN ornithine carbamoyltransferase 145 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity p.Q145K(1) 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) AGTGTATAAACAATCAGATTT 0.403000 6 33 0.00198382 0.00198382 1 1 0 LAMA2 3908 broad.mit.edu 37 6 129722465 129722465 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:129722465G>A ENST00000421865.2 + 38 5591 c.5542G>A c.(5542-5544)Gaa>Aaa p.E1848K NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1848 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCTTGCAGATGAAATCAACTC 0.398000 36 50 0 0 1 0 0 ZC3H10 84872 broad.mit.edu 37 12 56515570 56515570 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr12:56515570C>T ENST00000257940.2 + 3 1500 c.1224C>T c.(1222-1224)atC>atT p.I408I RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA NM_032786.1 NP_116175.1 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 408 nucleic acid binding|zinc ion binding breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) TGGCAGGAATCACAATGAGCC 0.587000 10 36 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191899303 191899303 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:191899303C>T ENST00000392320.2 - 18 1905 c.1591G>A c.(1591-1593)Ggt>Agt p.G531S STAT4_ENST00000358470.4_Missense_Mutation_p.G531S NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 531 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) GTGAGGTGACCATCACTGTAG 0.358000 32 101 0 0 1 0 0 C17orf98 388381 broad.mit.edu 37 17 36997591 36997591 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:36997591C>T ENST00000398575.4 - 1 117 c.52G>A c.(52-54)Gac>Aac p.D18N NM_001080465.2 NP_001073934.1 A8MV24 CQ098_HUMAN chromosome 17 open reading frame 98 18 endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3) 14 GCCACCCCGTCCAAGATAAAG 0.647000 13 39 0 0 1 0 0 BOLA1 51027 broad.mit.edu 37 1 149871724 149871724 + Missense_Mutation SNP A A C TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:149871724A>C ENST00000369153.2 + 3 776 c.112A>C c.(112-114)Acg>Ccg p.T38P BOLA1_ENST00000369150.1_Missense_Mutation_p.T38P|BOLA1_ENST00000369152.5_Missense_Mutation_p.T38P|BOLA1_ENST00000476344.1_3'UTR Q9Y3E2 BOLA1_HUMAN bolA family member 1 38 extracellular region protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CGCCATTCGCACGAAGTTGGA 0.692000 10 45 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3832835 3832835 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr16:3832835G>A ENST00000262367.5 - 6 2232 c.1423C>T c.(1423-1425)Ccc>Tcc p.P475S CREBBP_ENST00000382070.3_Missense_Mutation_p.P437S NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 475 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GGGTCTATGGGATTTGGGTTA 0.542000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 27 60 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54825182 54825182 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr15:54825182G>A ENST00000545554.1 + 25 5614 c.5614G>A c.(5614-5616)Gga>Aga p.G1872R UNC13C_ENST00000260323.11_Missense_Mutation_p.G1872R|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1870R Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1872 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GAGAGCAAATGGAAACACCAC 0.303000 7 10 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232629309 232629309 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:232629309G>A ENST00000366630.1 - 3 1939 c.1581C>T c.(1579-1581)tcC>tcT p.S527S SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Silent_p.S527S Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 527 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AGTTGAACTGGGATCCTTCTT 0.473000 113 386 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27193269 27193269 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr15:27193269C>T ENST00000335625.5 + 11 2166 c.1278C>T c.(1276-1278)gaC>gaT p.D426D GABRA5_ENST00000355395.5_Silent_p.D426D|GABRA5_ENST00000400081.3_Silent_p.D426D NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 426 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 NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCAAAATTGACAAAATGTCCC 0.448000 6 31 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8613798 8613798 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr4:8613798G>A ENST00000429646.2 + 6 2889 c.96G>A c.(94-96)atG>atA p.M32I CPZ_ENST00000382480.2_Missense_Mutation_p.M287I|CPZ_ENST00000360986.4_Missense_Mutation_p.M424I|CPZ_ENST00000315782.6_Missense_Mutation_p.M413I Q66K79 CBPZ_HUMAN carboxypeptidase Z 424 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TCCACCCCATGATGATGGACA 0.562000 9 23 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 42077755 42077755 + Silent SNP T T G TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr4:42077755T>G ENST00000264451.6 + 16 1680 c.1500T>G c.(1498-1500)gtT>gtG p.V500V NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 500 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 ATGGGCGAGTTGTTACAAGAT 0.328000 24 55 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31930804 31930804 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:31930804C>T ENST00000375394.2 + 13 1452 c.1339C>T c.(1339-1341)Cac>Tac p.H447Y SKIV2L_ENST00000544581.1_Missense_Mutation_p.H254Y NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 447 Helicase ATP-binding. nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GCTACCTGACCACGTTTCTAT 0.607000 11 51 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32196407 32196407 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:32196407G>A ENST00000373658.3 - 29 4715 c.4374C>T c.(4372-4374)tcC>tcT p.S1458S BAI2_ENST00000527361.1_Silent_p.S1425S|BAI2_ENST00000398538.1_Silent_p.S1446S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398542.1_Silent_p.S1358S|BAI2_ENST00000398547.1_Silent_p.S1391S|BAI2_ENST00000398556.3_Silent_p.S1373S|BAI2_ENST00000257070.4_Silent_p.S1425S|BAI2_ENST00000440175.2_Silent_p.S1067S|BAI2_ENST00000373655.2_Silent_p.S1458S NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1458 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.S1458S(1) breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TCACCTCCAGGGAGCCCATCT 0.682000 23 42 0 0 1 0 0 MELK 9833 broad.mit.edu 37 9 36671008 36671008 + Missense_Mutation SNP G G A rs2068826 TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr9:36671008G>A ENST00000543751.1 + 15 1568 c.1423G>A c.(1423-1425)Gaa>Aaa p.E475K MELK_ENST00000541717.1_Missense_Mutation_p.E466K|MELK_ENST00000536987.1_Missense_Mutation_p.E376K|MELK_ENST00000298048.2_Missense_Mutation_p.E507K|MELK_ENST00000545008.1_Missense_Mutation_p.E436K|MELK_ENST00000536860.1_Missense_Mutation_p.E459K|MELK_ENST00000538311.1_Missense_Mutation_p.E313K|MELK_ENST00000536329.1_Missense_Mutation_p.E436K NM_001256689.1 NP_001243618.1 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 507 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06) STAD - Stomach adenocarcinoma(86;0.228) CCGCTCAGTGGAATTGGATCT 0.488000 34 39 0 0 1 0 0 STK19 8859 broad.mit.edu 37 6 31939967 31939967 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:31939967G>A ENST00000375331.2 + 1 360 c.194G>A c.(193-195)gGg>gAg p.G65E STK19_ENST00000375333.2_Missense_Mutation_p.G65E|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 65 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GGCCGGCGTGGGGCCCGGCCT 0.701000 23 39 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111666450 111666450 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:111666450G>A ENST00000389811.4 + 11 1097 c.873G>A c.(871-873)ctG>ctA p.L291L ACOXL_ENST00000439055.1_Silent_p.L291L Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 291 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TGCCCCACCTGGCCACAGCCT 0.542000 23 56 0 0 1 0 0 INTS4P1 285905 broad.mit.edu 37 7 64639752 64639752 + RNA SNP A A T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr7:64639752A>T ENST00000587624.1 + 0 635 TTGATTTCCTAGTTGACATGT 0.443000 7 41 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113377522 113377522 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:113377522C>T ENST00000316407.4 - 7 3417 c.3007G>A c.(3007-3009)Ggt>Agt p.G1003S KIAA2018_ENST00000478658.1_Missense_Mutation_p.G1003S|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1003 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GTAGTTAAACCTTGCCCCTTT 0.383000 62 150 0 0 1 0 0 SNTB1 6641 broad.mit.edu 37 8 121706063 121706063 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr8:121706063G>A ENST00000395601.3 - 3 1071 c.657C>T c.(655-657)tcC>tcT p.S219S SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Silent_p.S219S NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 219 PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) CTAACCGAGGGGATTCAGGCG 0.552000 26 77 0 0 1 0 0 LANCL1 10314 broad.mit.edu 37 2 211300993 211300993 + Silent SNP G G A rs141302000 by1000genomes TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:211300993G>A ENST00000443314.1 - 7 1339 c.997C>T c.(997-999)Ctg>Ttg p.L333L AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000441020.3_Silent_p.L333L|LANCL1_ENST00000233714.4_Silent_p.L333L|LANCL1_ENST00000450366.2_Silent_p.L333L|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000431941.2_Silent_p.L333L O43813 LANC1_HUMAN LanC lantibiotic synthetase component C-like 1 (bacterial) 333 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) TAGAGTGTCAGGAAGGCATAG 0.512000 33 81 0 0 1 0 0 SSMEM1 136263 broad.mit.edu 37 7 129856273 129856273 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr7:129856273C>T ENST00000297819.3 + 3 749 c.698C>T c.(697-699)tCc>tTc p.S233F NM_145268.3 NP_660311.1 serine-rich single-pass membrane protein 1 GAGGAAAGTTCCATATCTGAC 0.383000 133 212 0 0 1 0 0 GMPPB 29925 broad.mit.edu 37 3 49759760 49759760 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:49759760G>A ENST00000480687.1 - 8 788 c.672C>T c.(670-672)gaC>gaT p.D224D GMPPB_ENST00000308388.6_Silent_p.D224D|GMPPB_ENST00000308375.6_Silent_p.D224D|AMIGO3_ENST00000535833.1_5'UTR Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B 224 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) CAGTGAGGAAGTCCTTGGGCT 0.637000 10 43 0 0 1 0 0 DHX40 79665 broad.mit.edu 37 17 57665412 57665412 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:57665412C>T ENST00000451169.2 + 15 1795 c.1436C>T c.(1435-1437)cCt>cTt p.P479L DHX40_ENST00000425628.3_Missense_Mutation_p.P450L|DHX40_ENST00000251241.4_Missense_Mutation_p.P527L Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 527 ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TTCATTAGACCTGGTAAGATG 0.428000 14 60 0 0 1 0 0 NCF2 4688 broad.mit.edu 37 1 183543646 183543646 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:183543646G>A ENST00000367535.3 - 4 728 c.477C>T c.(475-477)atC>atT p.I159I NCF2_ENST00000367536.1_Silent_p.I159I|NCF2_ENST00000413720.1_Intron|NCF2_ENST00000418089.1_Intron NM_000433.3 NP_000424.2 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 159 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 TCGCCTTGTCGATTTTGGAAT 0.463000 87 241 0 0 1 0 0 SNX16 64089 broad.mit.edu 37 8 82715355 82715355 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr8:82715355G>A ENST00000396330.2 - 7 1296 c.790C>T c.(790-792)Cat>Tat p.H264Y SNX16_ENST00000353788.4_Missense_Mutation_p.H235Y|SNX16_ENST00000345957.4_Missense_Mutation_p.H264Y|RP13-923O23.6_ENST00000524337.1_RNA NM_022133.3 NP_071416.2 P57768 SNX16_HUMAN sorting nexin 16 264 cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding large_intestine(1)|ovary(1)|pancreas(1)|skin(2) 5 GTGTCTATATGAAGTTGCTTC 0.368000 29 84 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935484 30935484 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr19:30935484G>A ENST00000355537.3 + 2 1162 c.1015G>A c.(1015-1017)Gag>Aag p.E339K NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CGGCGGTGGCGAGCAGTCGGC 0.647000 37 78 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57395187 57395187 + Missense_Mutation SNP A A G TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:57395187A>G ENST00000543257.1 - 13 2076 c.1510T>C c.(1510-1512)Tca>Cca p.S504P C8B_ENST00000535057.1_Missense_Mutation_p.S494P|C8B_ENST00000371237.4_Missense_Mutation_p.S556P NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 556 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 CCAGAGCATGAAGACCAATTT 0.448000 30 54 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71941316 71941316 + Splice_Site SNP G G C TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr11:71941316G>C ENST00000298229.2 + 9 1294 c.e9+1 INPPL1_ENST00000538751.1_Splice_Site|INPPL1_ENST00000541756.1_Splice_Site NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CACGACCGCAGTGAGCCAGGG 0.692000 8 36 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594154 140594154 + Missense_Mutation SNP T T A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr5:140594154T>A ENST00000341948.4 + 1 646 c.459T>A c.(457-459)ttT>ttA p.F153L NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 153 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACTACGTTTCCTCTGAAGA 0.443000 54 114 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179702223 179702223 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:179702223G>A ENST00000420890.2 - 23 3840 c.3723C>T c.(3721-3723)tcC>tcT p.S1241S CCDC141_ENST00000295723.5_Silent_p.S666S|CCDC141_ENST00000480419.1_5'UTR NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 666 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) GAAGGCTGAGGGAGGAGCTGA 0.587000 18 47 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207173455 207173455 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:207173455G>A ENST00000374423.3 + 5 4589 c.4203G>A c.(4201-4203)aaG>aaA p.K1401K NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1401 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 TGGAAGATAAGAGCTATAAAT 0.358000 18 37 0 0 1 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092610 151092610 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chrX:151092610C>T ENST00000360243.2 + 3 741 c.474C>T c.(472-474)tcC>tcT p.S158S MAGEA4_ENST00000370340.3_Silent_p.S158S|MAGEA4_ENST00000276344.2_Silent_p.S158S|MAGEA4_ENST00000370337.4_Silent_p.S158S|MAGEA4_ENST00000370335.1_Silent_p.S158S|MAGEA4_ENST00000393920.1_Silent_p.S158S|MAGEA4_ENST00000393921.1_Silent_p.S158S NM_001011550.1 NP_001011550.1 P43358 MAGA4_HUMAN melanoma antigen family A, 4 158 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) CCTCCGAGTCCCTGAAGATGA 0.532000 66 85 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179505268 179505268 + Splice_Site SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:179505268C>T ENST00000589042.1 - 221 40947 c.40723_splice c.e221+1 p.V13575_splice TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.V4635_splice|TTN_ENST00000591111.1_Splice_Site_p.V11934_splice|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.V11007_splice|TTN_ENST00000342175.6_Splice_Site_p.V4702_splice|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Splice_Site_p.V4510_splice|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11934 Ig-like 92. 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) AGATTTGTACCTTTTGTTGGT 0.338000 56 83 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201352329 201352329 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:201352329G>A ENST00000391967.2 - 7 1560 c.1259C>T c.(1258-1260)tCt>tTt p.S420F LAD1_ENST00000367313.3_Missense_Mutation_p.S434F|LAD1_ENST00000488842.1_5'UTR NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 420 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 AGACTTGACAGATTCTGATCT 0.592000 45 175 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23815598 23815598 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr4:23815598G>A ENST00000264867.2 - 8 1627 c.1508C>T c.(1507-1509)tCa>tTa p.S503L PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 503 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) GGCTAGTCCTGAATTTATAAA 0.428000 40 131 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122634447 122634447 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:122634447C>T ENST00000195173.4 - 14 2131 c.1828G>A c.(1828-1830)Ggg>Agg p.G610R SEMA5B_ENST00000451055.2_Missense_Mutation_p.G664R|SEMA5B_ENST00000357599.3_Missense_Mutation_p.G610R Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 610 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CCGAAGCCCCCATCCCGTGTC 0.572000 4 30 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110100287 110100287 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr8:110100287G>A ENST00000518632.1 + 2 897 c.546G>A c.(544-546)aaG>aaA p.K182K TRHR_ENST00000311762.2_Silent_p.K182K P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 182 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GTGGCTACAAGATCTCCAGGA 0.413000 34 100 0 0 1 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49967975 49967975 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr19:49967975C>T ENST00000293350.4 + 12 1687 c.1524C>T c.(1522-1524)ctC>ctT p.L508L CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000455361.2_Silent_p.L457L|ALDH16A1_ENST00000433981.2_Silent_p.L343L|ALDH16A1_ENST00000540132.1_Silent_p.L345L NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 508 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 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;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) CCTTTGGCCTCGCTGTTCCCT 0.622000 52 73 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79291087 79291087 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr4:79291087G>A ENST00000264895.6 + 23 3258 c.2818G>A c.(2818-2820)Gag>Aag p.E940K FRAS1_ENST00000325942.6_Missense_Mutation_p.E940K NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 940 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ATGTCAATACGAGAGCTGCGC 0.478000 16 23 0 0 1 0 0 RAI2 10742 broad.mit.edu 37 X 17819063 17819063 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chrX:17819063G>A ENST00000545871.1 - 3 1528 c.1068C>T c.(1066-1068)ccC>ccT p.P356P RAI2_ENST00000331511.1_Silent_p.P356P|RAI2_ENST00000415486.3_Silent_p.P306P|RAI2_ENST00000451717.1_Silent_p.P356P|RAI2_ENST00000360011.1_Silent_p.P356P NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 356 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) GTGTCTCAGGGGGAGGCTCGG 0.562000 22 40 0 0 1 0 0 CELF6 60677 broad.mit.edu 37 15 72579703 72579703 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr15:72579703G>A ENST00000287202.5 - 12 1603 c.1349C>T c.(1348-1350)gCc>gTc p.A450V CELF6_ENST00000395258.2_Missense_Mutation_p.A337V|CELF6_ENST00000543764.2_Missense_Mutation_p.A313V|CELF6_ENST00000539635.1_Missense_Mutation_p.A311V|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.A423V|RP11-106M3.3_ENST00000570175.1_RNA NM_052840.4 NP_443072.3 Q96J87 CELF6_HUMAN CUGBP, Elav-like family member 6 450 RRM 3. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2) 13 AGCAGTCTGGGCACTAGTTGG 0.532000 28 70 0 0 1 0 0 PDK4 5166 broad.mit.edu 37 7 95217061 95217061 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr7:95217061C>T ENST00000005178.5 - 8 1045 c.848G>A c.(847-849)gGa>gAa p.G283E NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 283 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) GTCTTCTTTTCCCAAGACAAC 0.388000 43 62 0 0 1 0 0 RWDD1 51389 broad.mit.edu 37 6 116911443 116911443 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:116911443C>T ENST00000466444.2 + 5 639 c.423C>T c.(421-423)ttC>ttT p.F141F RWDD1_ENST00000392526.1_Silent_p.F45F|RWDD1_ENST00000487832.2_Silent_p.F45F NM_015952.2 NP_057036.2 Q9H446 RWDD1_HUMAN RWD domain containing 1 141 protein binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1) 12 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) AGCAATTATTCCATGGTACTC 0.294000 15 23 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86394597 86394597 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr7:86394597C>T ENST00000361669.2 + 2 1235 c.136C>T c.(136-138)Cct>Tct p.P46S GRM3_ENST00000439827.1_Missense_Mutation_p.P46S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.P44S NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 46 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GGGCCTGTTTCCTATTAACGA 0.408000 92 115 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13381792 13381792 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:13381792G>A ENST00000254508.5 - 24 3317 c.3235C>T c.(3235-3237)Ccc>Tcc p.P1079S NUP210_ENST00000485755.1_Intron NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1079 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CTGAACGGGGGAAAGACCTGT 0.572000 5 23 0 0 1 0 0 OR2T27 403239 broad.mit.edu 37 1 248814039 248814039 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:248814039G>A ENST00000344889.3 - 1 146 c.147C>T c.(145-147)atC>atT p.I49I NM_001001824.1 NP_001001824.1 Q8NH04 O2T27_HUMAN olfactory receptor, family 2, subfamily T, member 27 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGTCTATGTGGATGAGAATGA 0.527000 12 43 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7701964 7701964 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:7701964C>T ENST00000572933.1 + 55 9947 c.8487C>T c.(8485-8487)ttC>ttT p.F2829F DNAH2_ENST00000389173.2_Silent_p.F2829F Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2829 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ATGAGTCCTTCCTAGAGGACA 0.522000 30 36 0 0 1 0 0 NEURL4 84461 broad.mit.edu 37 17 7227580 7227580 + Missense_Mutation SNP T T C TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:7227580T>C ENST00000399464.2 - 11 1924 c.1909A>G c.(1909-1911)Acg>Gcg p.T637A NEURL4_ENST00000570460.1_Missense_Mutation_p.T615A|NEURL4_ENST00000315614.7_Missense_Mutation_p.T637A NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACGCCCACCGTGTCCCCTGCC 0.657000 OREG0024134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 41 0 0 1 0 0 C17orf98 388381 broad.mit.edu 37 17 36997592 36997592 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:36997592C>T ENST00000398575.4 - 1 116 c.51G>A c.(49-51)ttG>ttA p.L17L NM_001080465.2 NP_001073934.1 A8MV24 CQ098_HUMAN chromosome 17 open reading frame 98 17 endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3) 14 CCACCCCGTCCAAGATAAAGC 0.642000 13 38 0 0 1 0 0 RHBDF2 79651 broad.mit.edu 37 17 74475323 74475323 + Missense_Mutation SNP C C A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:74475323C>A ENST00000591885.1 - 5 859 c.309G>T c.(307-309)tgG>tgT p.W103C RHBDF2_ENST00000592378.1_5'UTR|RHBDF2_ENST00000313080.4_Missense_Mutation_p.W132C|RHBDF2_ENST00000389760.4_Missense_Mutation_p.W103C Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 132 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 GCTGCCCCTCCCAGTCGCCGC 0.677000 5 11 0.000602214 0.000604939 1 1 0 NBEAP1 606 broad.mit.edu 37 15 20874863 20874863 + RNA SNP T T C rs62000628 by1000genomes TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr15:20874863T>C ENST00000556948.1 - 0 385 TATTTTAAGGTGTGCATTATC 0.348000 5 94 0 0 1 0 0 MTFMT 123263 broad.mit.edu 37 15 65298462 65298462 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr15:65298462G>A ENST00000220058.4 - 7 894 c.881C>T c.(880-882)tCa>tTa p.S294L NM_139242.3 NP_640335.2 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase 294 mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity endometrium(1)|large_intestine(3)|lung(3)|ovary(3) 10 Tetrahydrofolic acid(DB00116) AGCAAGGACTGAACTGTTAAC 0.368000 10 39 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245861536 245861536 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:245861536G>A ENST00000366518.4 + 10 4914 c.4810G>A c.(4810-4812)Gaa>Aaa p.E1604K KIF26B_ENST00000407071.2_Missense_Mutation_p.E1985K Q2KJY2 KI26B_HUMAN kinesin family member 26B 1985 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GGGCCTTGGGGAACCCTTTGA 0.627000 14 44 0 0 1 0 0 GMPPB 29925 broad.mit.edu 37 3 49759761 49759761 + Missense_Mutation SNP T T C TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:49759761T>C ENST00000480687.1 - 8 787 c.671A>G c.(670-672)gAc>gGc p.D224G GMPPB_ENST00000308388.6_Missense_Mutation_p.D224G|GMPPB_ENST00000308375.6_Missense_Mutation_p.D224G|AMIGO3_ENST00000535833.1_5'UTR Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B 224 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) AGTGAGGAAGTCCTTGGGCTG 0.637000 10 43 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5915235 5915235 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr12:5915235C>T ENST00000356134.5 - 10 1035 c.964G>A c.(964-966)Gat>Aat p.D322N ANO2_ENST00000546188.1_Missense_Mutation_p.D322N|ANO2_ENST00000327087.8_Missense_Mutation_p.D321N NM_001278596.1|NM_001278597.1 NP_001265525.1|NP_001265526.1 Q9NQ90 ANO2_HUMAN anoctamin 2 326 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TCATTCATATCGTCCTCTGGA 0.478000 16 26 0 0 1 0 0 ETS1 2113 broad.mit.edu 37 11 128333448 128333448 + Missense_Mutation SNP A A C TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr11:128333448A>C ENST00000392668.3 - 9 1266 c.1198T>G c.(1198-1200)Tgg>Ggg p.W400G ETS1_ENST00000526145.1_Missense_Mutation_p.W269G|ETS1_ENST00000319397.5_Missense_Mutation_p.W356G|ETS1_ENST00000535549.1_Missense_Mutation_p.W140G|ETS1_ENST00000531611.1_Intron|ETS1_ENST00000345075.4_Missense_Mutation_p.W269G NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 356 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) TCTCCTGTCCAGCTGATAAAA 0.458000 37 44 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111215722 111215722 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:111215722C>T ENST00000369769.2 - 1 1933 c.1710G>A c.(1708-1710)aaG>aaA p.K570K NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 570 voltage-gated potassium channel complex delayed rectifier potassium channel activity p.K570N(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) CGGTGAATATCTTTTTGATGT 0.453000 51 86 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 6 124 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66478990 66478990 + Missense_Mutation SNP G G A rs150000308 TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr5:66478990G>A ENST00000256447.4 - 3 1838 c.1681C>T c.(1681-1683)Cgt>Tgt p.R561C NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 561 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity p.R561C(1) cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) GGGAGGAGACGGGGTGAGATG 0.453000 19 50 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47897388 47897388 + Missense_Mutation SNP A A T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr7:47897388A>T ENST00000289672.2 - 28 4455 c.4405T>A c.(4405-4407)Ttc>Atc p.F1469I NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1469 REJ. 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 AGGGTCCGGAACTCCATCTGC 0.498000 14 46 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136566630 136566630 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:136566630G>A ENST00000264162.2 - 8 3297 c.3287C>T c.(3286-3288)gCc>gTc p.A1096V NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1096 4 X approximate repeats. A -> T (in Ref. 1; CAA30801). carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TTTGATGACGGCGTGGGCTAT 0.552000 27 48 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219256178 219256178 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr2:219256178C>T ENST00000233202.6 + 11 1464 c.1124C>T c.(1123-1125)tCc>tTc p.S375F SLC11A1_ENST00000539932.1_Missense_Mutation_p.S257F NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 375 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGCAGAGCTCCACCATGACG 0.677000 6 10 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23232506 23232506 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:23232506G>A ENST00000400191.3 + 10 1810 c.1792G>A c.(1792-1794)Gat>Aat p.D598N EPHB2_ENST00000374627.1_Missense_Mutation_p.D593N|EPHB2_ENST00000374630.3_Missense_Mutation_p.D598N|EPHB2_ENST00000374632.3_Missense_Mutation_p.D599N NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 598 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GATCTACATCGATCCTTTCAC 0.522000 25 48 0 0 1 0 0 RAET1G 353091 broad.mit.edu 37 6 150240199 150240199 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:150240199G>A ENST00000367360.2 - 3 678 c.611C>T c.(610-612)aCc>aTc p.T204I RP11-244K5.1_ENST00000446954.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.T204I|RP11-244K5.1_ENST00000605899.1_RNA NM_001001788.2 NP_001001788.2 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G 204 MHC class I alpha-2 like. antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1) 13 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) TGGCTCCAGGGTGCTGTCCAT 0.463000 63 83 0 0 1 0 0 LOC101243545 101243545 broad.mit.edu 37 3 161147051 161147051 + RNA SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:161147051G>A ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 CTTCTTCACAGCCTGTTTAAT 0.453000 30 82 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16990582 16990582 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr10:16990582G>A ENST00000377833.4 - 35 5169 c.5104C>T c.(5104-5106)Ccc>Tcc p.P1702S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1702 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATAGGATGGGGCATGTCGGTG 0.493000 3 27 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10350413 10350413 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr17:10350413G>A ENST00000255381.2 - 35 5196 c.5086C>T c.(5086-5088)Ctg>Ttg p.L1696L CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1696 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTCCGTTCCAGGGATGCCCTG 0.517000 45 93 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46825899 46825899 + Silent SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:46825899G>A ENST00000283296.7 - 17 4029 c.3741C>T c.(3739-3741)ttC>ttT p.F1247F GPR116_ENST00000265417.7_Silent_p.F1247F|GPR116_ENST00000545669.1_Silent_p.F676F|GPR116_ENST00000362015.4_Silent_p.F1247F|GPR116_ENST00000456426.2_Silent_p.F1105F NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1247 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) ATATGATATGGAACACAAGGT 0.453000 28 80 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48806008 48806008 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr19:48806008C>T ENST00000315396.7 - 10 1754 c.1072G>A c.(1072-1074)Gag>Aag p.E358K NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 358 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) TCAAGGCGCTCAGCCTCCGAG 0.637000 22 39 0 0 1 0 0 TRAV20 28663 broad.mit.edu 37 14 22509243 22509243 + RNA SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr14:22509243C>T ENST00000390448.3 + 0 250 TAGGCAAGATCCTGGGAAAGG 0.488000 9 35 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189587149 189587149 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:189587149C>T ENST00000264731.3 + 9 1255 c.1166C>T c.(1165-1167)tCc>tTc p.S389F TP63_ENST00000456148.1_Missense_Mutation_p.S291F|TP63_ENST00000449992.1_Missense_Mutation_p.S210F|TP63_ENST00000392463.2_Missense_Mutation_p.S295F|TP63_ENST00000392460.3_Missense_Mutation_p.S389F|TP63_ENST00000320472.5_Missense_Mutation_p.S389F|TP63_ENST00000392461.3_Missense_Mutation_p.S295F|TP63_ENST00000354600.5_Missense_Mutation_p.S295F|TP63_ENST00000382063.4_Missense_Mutation_p.S304F|TP63_ENST00000437221.1_Missense_Mutation_p.S295F|TP63_ENST00000440651.2_Missense_Mutation_p.S385F|TP63_ENST00000418709.2_Missense_Mutation_p.S389F NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 389 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CAGATGACATCCATCAAGAAA 0.408000 HNSCC(45;0.13) 17 47 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43181615 43181615 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr6:43181615G>A ENST00000252050.4 + 29 5737 c.5653G>A c.(5653-5655)Gaa>Aaa p.E1885K CUL9_ENST00000354495.3_Missense_Mutation_p.E1775K|CUL9_ENST00000372647.2_Missense_Mutation_p.E1857K|RP3-330M21.5_ENST00000500590.1_RNA NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1885 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 AGCCCATGGGGAAAAGGGCCT 0.527000 38 103 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869182 36869182 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr20:36869182G>A ENST00000279024.4 - 3 1622 c.1351C>T c.(1351-1353)Ccc>Tcc p.P451S NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 451 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) ATGGGCTTGGGAAGTCTCCCA 0.567000 44 72 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116691731 116691731 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr11:116691731C>T ENST00000357780.3 - 3 1157 c.1043G>A c.(1042-1044)aGg>aAg p.R348K NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GACCTTGTCCCTCAGGTCCTT 0.577000 23 27 0 0 1 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33868069 33868069 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:33868069C>T ENST00000307296.3 + 6 1091 c.714C>T c.(712-714)ccC>ccT p.P238P PDCD6IP_ENST00000457054.2_Silent_p.P238P Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 238 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 ATACTCTCCCCAAGGTCAGTT 0.313000 17 60 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186386822 186386822 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:186386822C>T ENST00000232003.4 + 2 362 c.282C>T c.(280-282)tcC>tcT p.S94S NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 94 Cystatin 1. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) CACCTGATTCCAGACGTCCAT 0.423000 52 115 0 0 1 0 0 SLC1A3 6507 broad.mit.edu 37 5 36680583 36680583 + Missense_Mutation SNP G G A TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr5:36680583G>A ENST00000265113.4 + 8 1657 c.1181G>A c.(1180-1182)gGa>gAa p.G394E CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.G394E NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 394 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) CTCCCCGTAGGAGCCACCATT 0.488000 29 63 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56586580 56586580 + Missense_Mutation SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr18:56586580C>T ENST00000336078.4 + 4 1837 c.1061C>T c.(1060-1062)tCc>tTc p.S354F ZNF532_ENST00000591083.1_Missense_Mutation_p.S354F|ZNF532_ENST00000591808.1_Missense_Mutation_p.S354F|ZNF532_ENST00000591230.1_Missense_Mutation_p.S354F|ZNF532_ENST00000589288.1_Missense_Mutation_p.S354F NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 354 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 CCCGCAGGGTCCACACCAGCA 0.507000 22 81 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71247407 71247407 + Silent SNP C C T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:71247407C>T ENST00000318789.4 - 6 651 c.126G>A c.(124-126)ccG>ccA p.P42P FOXP1_ENST00000468577.1_Silent_p.P42P|FOXP1_ENST00000475937.1_Silent_p.P42P|FOXP1_ENST00000484350.1_Silent_p.P42P|FOXP1_ENST00000498215.1_Silent_p.P42P|FOXP1_ENST00000318779.3_Silent_p.P42P|FOXP1_ENST00000493089.1_Silent_p.P42P NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 42 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) TGTCCACGGCCGGCGTCTCTC 0.632000 T PAX5 ALL 22 128 0 0 1 0 0 LINC01359 101927084 broad.mit.edu 37 1 65451793 65451793 + RNA DEL T T - rs113756498 TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:65451793delT ENST00000447748.1 - 0 1775 AATCTAATTGttttttttttt 0.493 4 5 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. 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) AGGTTAAACCAAAAAAAATAT 0.308 7 148 --- --- --- --- DNAH1 25981 broad.mit.edu 37 3 52423601 52423602 + Splice_Site INS - - G rs138518792 by1000genomes TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr3:52423601_52423602insG ENST00000420323.2 + 60 9881_9882 c.9621_splice c.e60+1 p.H3207_splice NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3272 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) CGATCGTGGCAGGTGCCCACCC 0.658 2 4 --- --- --- --- TALDO1 6888 broad.mit.edu 37 11 747521 747521 + Frame_Shift_Del DEL G G - TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr11:747521delG ENST00000319006.3 + 1 193 c.40delG c.(40-42)cgfs p.A14fs TALDO1_ENST00000528097.1_Frame_Shift_Del_p.A14fs P37837 TALDO_HUMAN transaldolase 1 14 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2) 14 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) GATGGAGTCCGCGCTGGACCA 0.731 6 10 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671804 25671806 + In_Frame_Del DEL GCT GCT - TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr13:25671804_25671806delGCT ENST00000281589.3 + 1 1505_1507 c.1468_1470delGCT c.(1468-1470)del p.A496del NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 496 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ACGTCctgcagctgctgctgctg 0.532 11 79 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 7 120 --- --- --- --- MIR3648-1 100500862 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-D9-A3Z3-06A-11D-A23B-08 TCGA-D9-A3Z3-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ed76151-1367-4e41-870d-06816e6a107d 32a2eed0-1c50-4482-8479-c8278ba893ca g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 3 6 --- --- --- ---