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 SYNE1 23345 broad.mit.edu 37 6 152763329 152763329 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr6:152763329C>T ENST00000367255.5 - 31 4490 c.3889G>A c.(3889-3891)Gcg>Acg p.A1297T SYNE1_ENST00000413186.2_Missense_Mutation_p.A1297T|SYNE1_ENST00000367248.3_Missense_Mutation_p.A1287T|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1297T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1304T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1363T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1297 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGCGCCTGCGCGATCTGCTGC 0.557000 HNSCC(10;0.0054) 48 272 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 255 0 0 1 0 0 BLZF1 8548 broad.mit.edu 37 1 169349763 169349763 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:169349763G>A ENST00000367808.3 + 5 1136 c.713G>A c.(712-714)cGt>cAt p.R238H BLZF1_ENST00000329281.2_Missense_Mutation_p.R238H Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 238 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) GCTTTACAGCGTCAAAACCGT 0.383000 5 476 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197070385 197070385 + Missense_Mutation SNP T T C TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:197070385T>C ENST00000367409.4 - 18 8252 c.7996A>G c.(7996-7998)Acc>Gcc p.T2666A ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2666 IQ 29. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 ACTGCTTGGGTACGCACTGCA 0.368000 108 247 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111693843 111693843 + Missense_Mutation SNP C C G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr6:111693843C>G ENST00000435970.1 - 15 6297 c.5481G>C c.(5479-5481)caG>caC p.Q1827H REV3L_ENST00000368805.1_Missense_Mutation_p.Q1905H|REV3L_ENST00000368802.3_Missense_Mutation_p.Q1905H|REV3L_ENST00000358835.3_Missense_Mutation_p.Q1905H O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1905 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AAAATGGTTCCTGGTAAATAG 0.383000 DNA polymerases (catalytic subunits) 68 486 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32503058 32503058 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:32503058G>A ENST00000357033.4 - 21 2987 c.2781C>T c.(2779-2781)gcC>gcT p.A927A DMD_ENST00000378677.2_Silent_p.A923A NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 927 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTTTCTCTCTGGCCTGCACAT 0.408000 44 211 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26608892 26608892 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:26608892G>A ENST00000314675.7 - 11 1180 c.1101C>T c.(1099-1101)ccC>ccT p.P367P UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374222.1_Silent_p.P487P|UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000374223.1_Silent_p.P244P NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 487 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 gaccgggaccgggacagggac 0.716000 6 327 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100687041 100687041 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:100687041C>T ENST00000306151.4 + 3 12408 c.12344C>T c.(12343-12345)aCg>aTg p.T4115M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4115 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCTGTCCCCACGAATACTACA 0.478000 42 258 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063069 9063069 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:9063069G>A ENST00000397910.4 - 3 24580 c.24377C>T c.(24376-24378)aCc>aTc p.T8126I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8128 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGAGCTGCTGGTCTTTCTCAG 0.527000 75 322 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30732964 30732964 + Missense_Mutation SNP A A T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:30732964A>T ENST00000295754.5 + 7 1959 c.1577A>T c.(1576-1578)gAg>gTg p.E526V TGFBR2_ENST00000359013.4_Missense_Mutation_p.E551V NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 526 Protein kinase. E -> Q (in esophageal cancer). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CACGACCCAGAGGCCCGTCTC 0.597000 62 226 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61611489 61611489 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr17:61611489C>T ENST00000583023.1 + 5 929 c.918C>T c.(916-918)atC>atT p.I306I KCNH6_ENST00000581784.1_Silent_p.I306I|KCNH6_ENST00000314672.5_Silent_p.I306I|KCNH6_ENST00000580652.1_Silent_p.I306I|KCNH6_ENST00000456941.2_Silent_p.I306I NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 306 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TGGATCTCATCGTGGACATCA 0.597000 114 455 0 0 1 0 0 ZNF382 84911 broad.mit.edu 37 19 37117303 37117303 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:37117303G>A ENST00000435416.1 + 3 1996 c.501G>A c.(499-501)gaG>gaA p.E167E ZNF382_ENST00000292928.2_Silent_p.E168E|ZNF382_ENST00000423582.1_Silent_p.E119E|ZNF382_ENST00000439428.1_Silent_p.E167E Q96SR6 ZN382_HUMAN zinc finger protein 382 168 Represses transcription (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CTGGATGGGAGAAATCACTCC 0.358000 26 1270 0 0 1 0 0 CCDC150 284992 broad.mit.edu 37 2 197521440 197521440 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr2:197521440C>T ENST00000389175.4 + 3 395 c.260C>T c.(259-261)gCa>gTa p.A87V CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000472405.2_5'UTR NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 87 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GCAATTTGTGCAGGAAAAACA 0.418000 4 223 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3002668 3002668 + Missense_Mutation SNP G G T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:3002668G>T ENST00000381127.1 + 6 1012 c.791G>T c.(790-792)gGa>gTa p.G264V ARSF_ENST00000359361.2_Missense_Mutation_p.G264V|ARSF_ENST00000537104.1_Missense_Mutation_p.G264V NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 264 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GAACGAGCTGGATCCATTATG 0.448000 44 251 7.62715e-32 8.38356e-32 1 1 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 192 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208067 58208067 + Missense_Mutation SNP C C G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr13:58208067C>G ENST00000377918.3 + 1 1413 c.1387C>G c.(1387-1389)Cta>Gta p.L463V NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 463 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GATCAAGATTCTAGACGAGAA 0.602000 4 112 0 0 1 0 0 IGHV3-9 0 broad.mit.edu 37 14 106552400 106552400 + RNA SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr14:106552400G>A ENST00000390600.2 - 0 318 CACAGAGTCCGCATAGCCTAT 0.522000 7 836 0 0 1 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18067282 18067282 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:18067282C>T ENST00000506618.2 - 1 204 c.124G>A c.(124-126)Gtg>Atg p.V42M NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 42 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) TCAATTTCCACGCAGGTCTCC 0.502000 12 950 0 0 1 0 0 ZNF558 148156 broad.mit.edu 37 19 8922295 8922295 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:8922295G>A ENST00000601372.1 - 10 1582 c.871C>T c.(871-873)Cct>Tct p.P291S ZNF558_ENST00000301475.1_Missense_Mutation_p.P291S|ZNF558_ENST00000444186.2_Missense_Mutation_p.P220S Q96NG5 ZN558_HUMAN zinc finger protein 558 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 CATTCATAAGGTTTCTCCCCT 0.448000 11 516 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16504390 16504390 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr4:16504390C>T ENST00000304523.5 - 8 1321 c.998G>A c.(997-999)gGc>gAc p.G333D LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.G331D NM_001290.3 NP_001281.1 O43679 LDB2_HUMAN LIM domain binding 2 333 LIM-binding domain (LID) (By similarity). LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 GTCGTCCATGCCGTTGGCCGC 0.522000 6 607 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325236 9325236 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:9325236G>A ENST00000308682.2 - 1 306 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 CCCCATGTAGGAGATGTCTTT 0.488000 68 255 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77896690 77896690 + Nonstop_Mutation SNP T T A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr18:77896690T>A ENST00000262198.4 + 4 3849 c.3394T>A c.(3394-3396)Taa>Aaa p.*1132K NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 0 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) ATATGAACCATAAAACTTGCA 0.303000 16 65 0 0 1 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16056392 16056392 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:16056392G>A ENST00000375799.3 + 14 2403 c.2176G>A c.(2176-2178)Gcc>Acc p.A726T PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A706T|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 726 Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GCTGGCACTGGCCAAATTTGT 0.557000 5 257 0 0 1 0 0 AKR7L 246181 broad.mit.edu 37 1 19595852 19595852 + RNA SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:19595852G>A ENST00000420396.2 - 0 507 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 TGTACTTGCCGGTCAGCAGGC 0.627000 5 272 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99567729 99567729 + Missense_Mutation SNP T T C TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr13:99567729T>C ENST00000376460.1 - 8 826 c.746A>G c.(745-747)gAg>gGg p.E249G DOCK9_ENST00000339416.2_Missense_Mutation_p.E250G|DOCK9_ENST00000448493.2_Missense_Mutation_p.E261G|DOCK9_ENST00000442173.1_Missense_Mutation_p.E249G NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 250 PH. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CATCTTGAGCTCAAAAGCAAA 0.353000 5 106 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 48 213 0 0 1 0 0 RPLP0P2 0 broad.mit.edu 37 11 61405030 61405030 + RNA SNP T T A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:61405030T>A ENST00000496593.1 + 0 1634 NR_002775.2 ctgctgctgctgcAGCCCCAG 0.552000 4 237 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 7 186 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120198768 120198768 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr12:120198768C>T ENST00000392521.2 - 20 2451 c.2396G>A c.(2395-2397)gGc>gAc p.G799D CIT_ENST00000261833.7_Missense_Mutation_p.G757D|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 757 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GAGAATTTTGCCCTTCTCATG 0.468000 7 525 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37478443 37478443 + Missense_Mutation SNP A A G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr10:37478443A>G ENST00000374660.1 + 31 2758 c.2659A>G c.(2659-2661)Acg>Gcg p.T887A ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000475522.1_3'UTR Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 943 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.T768A(2) 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 ACCCAAGGCTACGCATCAAAA 0.289000 5 293 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86022348 86022348 + Splice_Site SNP A A T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr8:86022348A>T ENST00000414626.2 + 2 1139 c.e2-1 LRRCC1_ENST00000360375.3_Splice_Site Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 cell division|mitosis centriole|nucleus p.?(4) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 ttttttttttaGGACTTGAAG 0.244000 6 514 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25940081 25940081 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr15:25940081G>A ENST00000356865.6 - 14 3084 c.2973C>T c.(2971-2973)ttC>ttT p.F991F NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 991 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CAAGGAAGAGGAATTTGTCCT 0.617000 38 201 0 0 1 0 0 CRADD 8738 broad.mit.edu 37 12 94244044 94244044 + Silent SNP G G A rs116316289 byFrequency TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr12:94244044G>A ENST00000542893.2 + 3 915 c.597G>A c.(595-597)gaG>gaA p.E199E CRADD_ENST00000541813.1_Intron|CRADD_ENST00000332896.3_Silent_p.E199E|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000548483.1_Intron P78560 CRADD_HUMAN CASP2 and RIPK1 domain containing adaptor with death domain 199 apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction intracellular death domain binding|protease binding|protein binding, bridging endometrium(1)|large_intestine(5)|lung(1)|ovary(1) 8 ACATGTTGGAGTGATGGTGCC 0.597000 6 158 0 0 1 0 0 SCML1 6322 broad.mit.edu 37 X 17770059 17770059 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:17770059C>T ENST00000380043.3 + 6 1075 c.747C>T c.(745-747)tgC>tgT p.C249C SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 276 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) TTGCATTATGCCCTCTTGTCG 0.448000 10 1568 0 0 1 0 0 UGT2A2 0 broad.mit.edu 37 4 70505048 70505048 + Missense_Mutation SNP A A T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr4:70505048A>T ENST00000457664.2 - 1 310 c.311T>A c.(310-312)aTt>aAt p.I104N UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.I305N|UGT2A1_ENST00000512704.1_Intron NM_001105677.2 NP_001099147.2 TCTATGGTCAATCCACAGCAT 0.368000 7 361 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55655602 55655602 + Missense_Mutation SNP T T A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:55655602T>A ENST00000449290.2 + 4 694 c.602T>A c.(601-603)cTg>cAg p.L201Q TRIM51_ENST00000244891.3_Missense_Mutation_p.L58Q NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 201 intracellular zinc ion binding TTGGAAAGGCTGCGAAAGGAG 0.433000 42 231 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 7567856 7567856 + Missense_Mutation SNP C C A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr18:7567856C>A ENST00000332175.8 + 1 1077 c.40C>A c.(40-42)Ctt>Att p.L14I PTPRM_ENST00000580170.1_Missense_Mutation_p.L14I|PTPRM_ENST00000400060.4_Missense_Mutation_p.L14I NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 14 homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) TTTGGCCGGACTTTTGCTAAC 0.756000 37 227 1.96642e-18 2.12629e-18 1 1 0 TCEAL2 140597 broad.mit.edu 37 X 101382205 101382205 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:101382205C>T ENST00000372780.1 + 3 622 c.403C>T c.(403-405)Ccc>Tcc p.P135S TCEAL2_ENST00000329035.2_Missense_Mutation_p.P135S NM_080390.3 NP_525129.1 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 GGATGATATACCCAGGAAAGC 0.483000 97 483 0 0 1 0 0 RAB12 201475 broad.mit.edu 37 18 8609872 8609872 + Silent SNP C C A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr18:8609872C>A ENST00000329286.6 + 1 430 c.147C>A c.(145-147)ggC>ggA p.G49G NM_001025300.2 NP_001020471.2 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family 49 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding p.G49G(1) breast(1)|lung(4)|prostate(1)|urinary_tract(1) 7 TCATTATCGGCTCCCGCGGCG 0.711000 5 53 0.014758 0.0150986 1 1 0 MUC4 4585 broad.mit.edu 37 3 195505830 195505830 + Silent SNP G G C TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:195505830G>C ENST00000463781.3 - 2 13080 c.12621C>G c.(12619-12621)acC>acG p.T4207T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T4207T|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.T4207T(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CAGGAAGAGGGGTGGCGTGAC 0.602000 4 22 0 0 1 0 0 GTPBP10 85865 broad.mit.edu 37 7 89984432 89984432 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:89984432G>A ENST00000222511.6 + 4 418 c.352G>A c.(352-354)Gta>Ata p.V118I GTPBP10_ENST00000257659.8_Intron NM_033107.3 NP_149098.2 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 (putative) 118 ribosome biogenesis chromosome|nucleolus GTP binding|GTPase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(4) 10 CAGAATTTTGGTAGCTCAAGG 0.318000 9 738 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508016 71508016 + Silent SNP A A T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr4:71508016A>T ENST00000396073.3 + 9 1154 c.873A>T c.(871-873)ccA>ccT p.P291P ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 291 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GGATTGGCCCACTCCCTGCAG 0.512000 5 299 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53233575 53233575 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr12:53233575C>T ENST00000359499.4 - 7 922 c.911G>A c.(910-912)cGc>cAc p.R304H KRT78_ENST00000304620.4_Missense_Mutation_p.R414H Q8N1N4 K2C78_HUMAN keratin 78 414 Coil 2.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CAGCAGCCTGCGGTAAGTGGC 0.607000 6 208 0 0 1 0 0 CDC14A 8556 broad.mit.edu 37 1 100964516 100964516 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:100964516C>T ENST00000336454.3 + 15 1808 c.1453C>T c.(1453-1455)Cta>Tta p.L485L CDC14A_ENST00000544534.1_Silent_p.L485L|CDC14A_ENST00000361544.6_Silent_p.L485L|CDC14A_ENST00000542213.1_Silent_p.L427L|CDC14A_ENST00000370125.2_3'UTR NM_003672.3 NP_003663.2 Q9UNH5 CC14A_HUMAN cell division cycle 14A 485 cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) AGCCAGTTCTCTAGGGAACTT 0.458000 43 173 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ggaatggaatcgaatcgaatc 0.373000 5 24 0 0 1 0 0 ALAS2 212 broad.mit.edu 37 X 55042077 55042077 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:55042077G>A ENST00000330807.5 - 8 1239 c.1102C>T c.(1102-1104)Cgg>Tgg p.R368W ALAS2_ENST00000335854.4_Missense_Mutation_p.R331W|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.R355W NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 368 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) CCAGCGCCCCGGGACCCATAC 0.527000 10 275 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1016106 1016106 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:1016106G>A ENST00000421673.2 - 31 6745 c.6695C>T c.(6694-6696)aCc>aTc p.T2232I NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 2232 Ser-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGAGACACGGTAACAGTGGA 0.602000 4 274 0 0 1 0 0 HSPE1 3336 broad.mit.edu 37 2 198367975 198367975 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr2:198367975G>A ENST00000233893.5 + 4 744 c.301G>A c.(301-303)Gta>Ata p.V101I MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|HSPE1_ENST00000409468.1_3'UTR NM_002157.2 NP_002148.1 heat shock 10kDa protein 1 lung(1) 1 Epithelial(96;0.225) TGGAAAGTACGTAGACTGAAA 0.328000 7 615 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 4 219 0.184627 0.184627 1 1 0 WHAMMP3 0 broad.mit.edu 37 15 23191911 23191911 + RNA SNP C C T rs147199465 by1000genomes TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr15:23191911C>T ENST00000400153.2 - 0 1785 NR_003521.1 TGATTTTCTTCGCACTGATCC 0.408000 5 165 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141773437 141773437 + Missense_Mutation SNP A A T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr2:141773437A>T ENST00000389484.3 - 13 2989 c.2018T>A c.(2017-2019)gTg>gAg p.V673E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 673 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATCCTTCCCACGCTGTCATC 0.418000 TSP Lung(27;0.18) 5 534 0 0 1 0 0 DNAJC30 84277 broad.mit.edu 37 7 73097630 73097630 + Missense_Mutation SNP C C A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:73097630C>A ENST00000395176.2 - 1 153 c.124G>T c.(124-126)Gac>Tac p.D42Y WBSCR22_ENST00000464615.1_3'UTR NM_032317.2 NP_115693.2 Q96LL9 DJC30_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 30 42 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1) 4 TACGAGCAGTCGCCCTGGGAA 0.607000 80 405 3.27973e-32 3.63503e-32 1 1 0 ZNF302 55900 broad.mit.edu 37 19 35175765 35175765 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:35175765C>T ENST00000505242.1 + 5 1317 c.823C>T c.(823-825)Cat>Tat p.H275Y ZNF302_ENST00000457781.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000446502.2_Missense_Mutation_p.H319Y|ZNF302_ENST00000423823.2_Missense_Mutation_p.H275Y|ZNF302_ENST00000505365.2_3'UTR Q9NR11 ZN302_HUMAN zinc finger protein 302 354 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ACTTACTAACCATCAGAGCAC 0.428000 142 388 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123847671 123847671 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:123847671C>T ENST00000531945.1 - 1 817 c.728G>A c.(727-729)cGc>cAc p.R243H NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R243H(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CTGGGCTGTGCGGATGCGCAA 0.602000 5 248 0 0 1 0 0 PCDHB12 0 broad.mit.edu 37 5 140589361 140589361 + Missense_Mutation SNP T T G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr5:140589361T>G ENST00000239450.2 + 1 1071 c.882T>G c.(880-882)atT>atG p.I294M PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 294 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATTTGAAATTAATCAAAAGT 0.398000 48 627 0 0 1 0 0 EPO 2056 broad.mit.edu 37 7 100320671 100320671 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:100320671G>A ENST00000252723.2 + 5 678 c.497G>A c.(496-498)cGc>cAc p.R166H NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 166 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GACACTTTCCGCAAACTCTTC 0.572000 6 596 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65862768 65862768 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr17:65862768G>A ENST00000321892.4 + 3 1686 c.1625G>A c.(1624-1626)cGg>cAg p.R542Q BPTF_ENST00000335221.5_Missense_Mutation_p.R542Q|BPTF_ENST00000306378.6_Missense_Mutation_p.R542Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R403Q Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 542 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AATAAGGCTCGGGGCAGTAAC 0.418000 4 267 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 7 272 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154585899 154585899 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:154585899G>A ENST00000404039.1 + 11 1642 c.1055G>A c.(1054-1056)gGg>gAg p.G352E DPP6_ENST00000427557.1_Missense_Mutation_p.G309E|DPP6_ENST00000377770.3_Missense_Mutation_p.G416E|DPP6_ENST00000332007.3_Missense_Mutation_p.G354E NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 416 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GCCACCACGGGGGTCTGCACG 0.672000 19 79 0 0 1 0 0 ZNF720 124411 broad.mit.edu 37 16 31766391 31766391 + Nonsense_Mutation SNP C C A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr16:31766391C>A ENST00000399681.3 + 6 1258 c.779C>A c.(778-780)tCa>tAa p.S260* ZNF720_ENST00000316491.9_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000534369.1_Intron Q7Z2F6 ZN720_HUMAN zinc finger protein 720 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding endometrium(1)|kidney(1)|lung(1)|stomach(1) 4 TGTGGTAAATCATTTAAAGTG 0.368000 9 48 0.000274275 0.000284989 1 1 0 SMPD1 6609 broad.mit.edu 37 11 6413007 6413007 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:6413007G>A ENST00000342245.4 + 2 880 c.712G>A c.(712-714)Gca>Aca p.A238T SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Missense_Mutation_p.A238T|SMPD1_ENST00000356761.2_Missense_Mutation_p.A238T|SMPD1_ENST00000527275.1_Missense_Mutation_p.A237T NM_000543.4|NM_001007593.2 NP_000534.3|NP_001007594.2 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid lysosomal 236 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) CCTGCCGCCCGCATCCCGGCC 0.672000 5 277 0 0 1 0 0 HMGCR 3156 broad.mit.edu 37 5 74646647 74646647 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr5:74646647C>T ENST00000287936.4 + 9 970 c.814C>T c.(814-816)Cgc>Tgc p.R272C HMGCR_ENST00000343975.5_Missense_Mutation_p.R272C|HMGCR_ENST00000511206.1_Missense_Mutation_p.R272C NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 272 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) TGCTCACAGTCGCTGGATAGC 0.368000 7 379 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121822548 121822548 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:121822548G>A ENST00000330540.2 + 3 370 c.254G>A c.(253-255)cGc>cAc p.R85H CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000493101.1_Intron NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 85 Ig-like V-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) TATATGGGCCGCACAAGTTTT 0.423000 8 793 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083597 17083597 + RNA SNP G G A rs140872445 by1000genomes TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:17083597G>A ENST00000455405.2 - 0 991 aaccattttcgtttaagaaag 0.333000 5 34 0 0 1 0 0 TPSD1 23430 broad.mit.edu 37 16 1306874 1306874 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr16:1306874G>A ENST00000211076.3 + 3 479 c.331G>A c.(331-333)Gtc>Atc p.V111I TPSD1_ENST00000397534.2_Missense_Mutation_p.V104I NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 111 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) GCTGCTGCCGGTCAGCAGGAT 0.627000 50 165 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414398 20414398 + Missense_Mutation SNP C C G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr9:20414398C>G ENST00000380338.4 - 5 732 c.446G>C c.(445-447)aGc>aCc p.S149T MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 149 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) gctgctgctgctgGTATGAAT 0.493000 T MLL ALL 5 335 0 0 1 0 0 ZNF507 22847 broad.mit.edu 37 19 32845207 32845207 + Nonsense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:32845207C>T ENST00000311921.3 + 2 1663 c.1471C>T c.(1471-1473)Cga>Tga p.R491* ZNF507_ENST00000544431.1_Nonsense_Mutation_p.R491*|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.R491* NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) TGAGTCTCTTCGATTACACTC 0.463000 112 349 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 4 70 0 0 1 0 0 UVRAG 7405 broad.mit.edu 37 11 75562938 75562938 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:75562938G>A ENST00000356136.3 + 2 369 c.128G>A c.(127-129)cGa>cAa p.R43Q UVRAG_ENST00000528420.1_5'UTR NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 43 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 CGGCGTCTTCGACATCTTCGG 0.363000 31 722 0 0 1 0 0 CD6 923 broad.mit.edu 37 11 60777109 60777109 + Nonsense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:60777109C>T ENST00000313421.7 + 5 1033 c.847C>T c.(847-849)Cga>Tga p.R283* CD6_ENST00000344028.5_Nonsense_Mutation_p.R283*|CD6_ENST00000545105.1_Intron|CD6_ENST00000452451.2_Nonsense_Mutation_p.R283*|CD6_ENST00000352009.5_Nonsense_Mutation_p.R283*|CD6_ENST00000346437.4_Nonsense_Mutation_p.R283* NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 283 SRCR 3. cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 GGTACACTTCCGAGGGGTCTG 0.642000 5 205 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108322082 108322082 + Silent SNP T T A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:108322082T>A ENST00000370056.4 - 3 628 c.354A>T c.(352-354)acA>acT p.T118T VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.T53T|VAV3_ENST00000527011.1_Silent_p.T118T NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 118 CH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) ATGCTATAGGTGTTCGAGAAA 0.318000 31 160 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 4 82 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108045502 108045502 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr12:108045502G>A ENST00000280758.5 + 16 3571 c.3043G>A c.(3043-3045)Gag>Aag p.E1015K BTBD11_ENST00000494235.2_Missense_Mutation_p.E94K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E896K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E552K NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 1015 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GCGACACTGTGAGATTATCTG 0.463000 5 157 0 0 1 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28327520 28327520 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr6:28327520C>T ENST00000377255.3 + 3 454 c.157C>T c.(157-159)Cgc>Tgc p.R53C ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.R53C NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 53 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 CCGAGGCTTCCGCTACCCGGA 0.632000 80 420 0 0 1 0 0 AQP4 361 broad.mit.edu 37 18 24436280 24436280 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr18:24436280C>T ENST00000383168.4 - 5 995 c.867G>A c.(865-867)acG>acA p.T289T AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Silent_p.T267T|AQP4_ENST00000581374.1_Silent_p.T267T|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000583022.1_5'UTR NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 289 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity p.T289T(1) kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) TCAGGTCATCCGTCTCTACCT 0.478000 19 1010 0 0 1 0 0 MAGEA3 4102 broad.mit.edu 37 X 151935782 151935782 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:151935782G>A ENST00000393902.3 - 3 952 c.385C>T c.(385-387)Ccg>Tcg p.P129S MAGEA3_ENST00000370278.3_Missense_Mutation_p.P129S P43357 MAGA3_HUMAN melanoma antigen family A, 3 129 MAGE. endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) TTTGTGACCGGCTCCCTGGCT 0.522000 8 1220 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58384887 58384887 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:58384887C>T ENST00000435989.2 - 3 2105 c.1871G>A c.(1870-1872)cGc>cAc p.R624H ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 624 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AGTGTGCATGCGCTGATGGTG 0.458000 61 261 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55730216 55730216 + Silent SNP C C T rs149035289 TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr16:55730216C>T ENST00000379906.2 + 8 1482 c.1227C>T c.(1225-1227)ttC>ttT p.F409F SLC6A2_ENST00000567238.1_Silent_p.F304F|SLC6A2_ENST00000561820.1_Silent_p.F409F|SLC6A2_ENST00000566163.1_Silent_p.F364F|SLC6A2_ENST00000568943.1_Silent_p.F409F|SLC6A2_ENST00000414754.3_Silent_p.F409F|SLC6A2_ENST00000219833.8_Silent_p.F409F NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 409 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TTGTGTTTTTCGTCATGCTCC 0.542000 130 528 0 0 1 0 0 LPAR6 10161 broad.mit.edu 37 13 48986341 48986341 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr13:48986341C>T ENST00000378434.4 - 7 1843 c.219G>A c.(217-219)agG>agA p.R73R RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Silent_p.R73R NM_005767.5 NP_005758.2 P43657 LPAR6_HUMAN lysophosphatidic acid receptor 6 73 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.0?(15)|p.?(4) NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 14 AGTAAAAAATCCTGAAGGGTA 0.358000 40 140 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2464701 2464701 + Silent SNP G G A rs149460018 TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr20:2464701G>A ENST00000278772.4 - 6 1393 c.906C>T c.(904-906)tgC>tgT p.C302C RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 AACCTCGCCCGCACTCACTGC 0.473000 5 278 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120271946 120271946 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr12:120271946G>A ENST00000392521.2 - 6 658 c.603C>T c.(601-603)taC>taT p.Y201Y CIT_ENST00000261833.7_Silent_p.Y201Y NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 201 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GCTCAGCTAGGTAAAACTGTA 0.438000 5 276 0 0 1 0 0 PMS1 0 broad.mit.edu 37 2 190718684 190718684 + Missense_Mutation SNP A A G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr2:190718684A>G ENST00000441310.2 + 8 1075 c.842A>G c.(841-843)aAt>aGt p.N281S PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.N281S|PMS1_ENST00000432292.3_Missense_Mutation_p.N105S|PMS1_ENST00000418224.3_Missense_Mutation_p.N105S|PMS1_ENST00000409823.3_Missense_Mutation_p.N242S NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 281 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) CATCATTACAATCTGAAATGC 0.284000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 102 460 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190603299 190603299 + Silent SNP A A G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr2:190603299A>G ENST00000520309.1 + 19 3679 c.3591A>G c.(3589-3591)gtA>gtG p.V1197V ANKAR_ENST00000313581.4_Silent_p.V1197V|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Silent_p.V1126V NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1197 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AGATTGTTGTACTGGCTAAAG 0.313000 75 371 0 0 1 0 0 TRAF5 7188 broad.mit.edu 37 1 211534067 211534067 + Silent SNP T T C TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:211534067T>C ENST00000261464.5 + 6 621 c.567T>C c.(565-567)ccT>ccC p.P189P TRAF5_ENST00000336184.2_Silent_p.P189P|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Silent_p.P189P NM_001033910.2 NP_001029082.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 189 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) ACTTGTGTCCTGAATACCCAG 0.373000 6 581 0 0 1 0 0 SLC13A5 284111 broad.mit.edu 37 17 6599137 6599137 + Silent SNP G G T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr17:6599137G>T ENST00000433363.2 - 7 1196 c.963C>A c.(961-963)atC>atA p.I321I SLC13A5_ENST00000573648.1_Silent_p.I321I|SLC13A5_ENST00000293800.6_Silent_p.I304I|SLC13A5_ENST00000381074.4_Silent_p.I278I NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 321 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 GGAAGAAGCAGATCAGCACGT 0.587000 11 574 0.000978159 0.00100849 1 1 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 6 610 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145838683 145838683 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr5:145838683C>T ENST00000296702.5 + 4 713 c.675C>T c.(673-675)gcC>gcT p.A225A TCERG1_ENST00000394421.2_Silent_p.A225A NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 225 Ala/Gln-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) aagcccaagcccaggcccagg 0.701000 50 115 0 0 1 0 0 HHATL 57467 broad.mit.edu 37 3 42739123 42739123 + Nonsense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:42739123G>A ENST00000441594.1 - 7 1003 c.742C>T c.(742-744)Cga>Tga p.R248* HHATL_ENST00000310417.5_Nonsense_Mutation_p.R248* NM_020707.3 NP_065758.3 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 248 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) GCCTGGGCTCGGATGTGCCAC 0.617000 5 288 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15752737 15752737 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:15752737G>A ENST00000399451.2 - 12 1595 c.1228C>T c.(1228-1230)Cat>Tat p.H410Y ANKRD28_ENST00000383777.1_Missense_Mutation_p.H443Y|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 410 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 GCAGCTGCATGTAGACAAGTC 0.313000 5 209 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 8 228 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 113005548 113005548 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:113005548C>T ENST00000495514.1 + 20 3888 c.3184C>T c.(3184-3186)Cca>Tca p.P1062S BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 1062 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) GGGCCTTGTGCCAGTTGAAGA 0.577000 9 1216 0 0 1 0 0 PRDM11 56981 broad.mit.edu 37 11 45246046 45246046 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:45246046G>A ENST00000263765.4 + 8 1372 c.1123G>A c.(1123-1125)Gcc>Acc p.A375T CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.A375T|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.A341T Q9NQV5 PRD11_HUMAN PR domain containing 11 375 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 CCAGGATGACGCCTACAGTCA 0.577000 125 553 0 0 1 0 0 MITF 4286 broad.mit.edu 37 3 69985877 69985877 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:69985877C>T ENST00000394351.3 + 1 124 c.4C>T c.(4-6)Ctg>Ttg p.L2L MITF_ENST00000531774.1_Silent_p.L2L|MITF_ENST00000328528.6_Intron|MITF_ENST00000314557.6_Silent_p.L2L|MITF_ENST00000352241.4_Intron|MITF_ENST00000314589.5_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394355.2_Intron|MITF_ENST00000448226.2_Intron|MITF_ENST00000472437.1_Intron NM_000248.3 NP_000239.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 0 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) CATTGTTATGCTGGAAATGCT 0.348000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 11 185 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140637837 140637837 + Missense_Mutation SNP G G T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr9:140637837G>T ENST00000460843.1 + 5 865 c.838G>T c.(838-840)Gtt>Ttt p.V280F EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F|EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F|EHMT1_ENST00000371394.2_3'UTR NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 280 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding p.V249F(2)|p.V280F(2) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) cttgccttttgttttAGCAGC 0.358000 16 121 1.96292e-10 2.08855e-10 1 1 0 PKD1L1 168507 broad.mit.edu 37 7 47898412 47898412 + Silent SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr7:47898412C>T ENST00000289672.2 - 27 4271 c.4221G>A c.(4219-4221)ggG>ggA p.G1407G NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1407 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 TCACAAATGGCCCCGAGAACT 0.478000 5 333 0 0 1 0 0 TMX2 51075 broad.mit.edu 37 11 57506679 57506679 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:57506679C>T ENST00000278422.4 + 7 703 c.691C>T c.(691-693)Cgg>Tgg p.R231W TMX2_ENST00000378312.4_Missense_Mutation_p.R193W|TMX2-CTNND1_ENST00000528395.1_Intron NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 231 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 GGAGGCAATGCGGCGGCCACA 0.547000 6 547 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 4 159 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70281225 70281225 + Missense_Mutation SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:70281225G>A ENST00000301843.8 + 18 1816 c.1610G>A c.(1609-1611)cGg>cAg p.R537Q CTTN_ENST00000376561.3_Splice_Site_p.R500_splice|CTTN_ENST00000538675.1_Splice_Site_p.R221_splice|CTTN_ENST00000346329.3_Missense_Mutation_p.R500Q NM_005231.3 NP_005222.2 Q14247 SRC8_HUMAN cortactin 537 SH3. cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) TGCAAGGGCCGGTACGGGCTC 0.627000 10 284 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1204809 1204809 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr2:1204809G>A ENST00000308624.5 + 9 741 c.612G>A c.(610-612)tcG>tcA p.S204S SNTG2_ENST00000407292.1_Silent_p.S77S|SNTG2_ENST00000467759.1_3'UTR NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 204 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.S204S(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CACCTTCCTCGCCCATAGCTA 0.582000 79 315 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4016559 4016559 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr16:4016559G>A ENST00000294016.3 - 11 3817 c.3279C>T c.(3277-3279)gaC>gaT p.D1093D NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1093 Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TTAGGAGCTCGTCAAAGTCCC 0.597000 6 639 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131916097 131916097 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr8:131916097C>T ENST00000286355.5 - 7 3924 c.1832G>A c.(1831-1833)cGg>cAg p.R611Q ADCY8_ENST00000377928.3_Missense_Mutation_p.R611Q NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 611 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ACTGTTTCTCCGGTCTGAGGA 0.478000 HNSCC(32;0.087) 47 294 0 0 1 0 0 CYP2J2 1573 broad.mit.edu 37 1 60359407 60359407 + Missense_Mutation SNP G G T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:60359407G>T ENST00000371204.3 - 9 1468 c.1425C>A c.(1423-1425)aaC>aaA p.N475K CYP2J2_ENST00000492633.1_5'UTR NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 475 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) GCTTCTCATTGTTTGGGGGCC 0.463000 24 1446 2.27111e-07 2.39728e-07 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90161753 90161753 + RNA SNP T T C rs6500470 by1000genomes TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr16:90161753T>C ENST00000564451.1 + 0 1106 TUBB8P7_ENST00000567960.1_RNA CAGACAGGATTATAAACACAT 0.562000 8 233 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35232753 35232753 + Silent SNP T T C TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:35232753T>C ENST00000392232.3 + 6 1767 c.1599T>C c.(1597-1599)taT>taC p.Y533Y ZNF181_ENST00000492450.1_Silent_p.Y489Y|ZNF181_ENST00000459757.1_Silent_p.Y488Y Q2M3W8 ZN181_HUMAN zinc finger protein 181 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) AGAAACCTTATGAATGTATTA 0.388000 9 566 0 0 1 0 0 IFI44L 10964 broad.mit.edu 37 1 79093845 79093845 + Missense_Mutation SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:79093845C>T ENST00000370751.4 + 2 424 c.245C>T c.(244-246)tCc>tTc p.S82F IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 82 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 CCAAATGATTCCCTATGGTTT 0.313000 11 278 0 0 1 0 0 FAM92A1P2 0 broad.mit.edu 37 4 183958909 183958909 + RNA SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr4:183958909C>T ENST00000502308.1 + 0 92 NR_003612.1 CCTGGTTGTGCGCCAGGCAAG 0.572000 4 21 0 0 1 0 0 SLC22A11 55867 broad.mit.edu 37 11 64329557 64329557 + Missense_Mutation SNP C C A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:64329557C>A ENST00000301891.4 + 3 953 c.579C>A c.(577-579)ttC>ttA p.F193L SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.F193L|SLC22A11_ENST00000377585.3_Missense_Mutation_p.F193L NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 193 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) CCCCAACATTCGTCATCTACT 0.617000 OREG0004030 type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 56 228 5.73376e-24 6.25074e-24 1 1 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 4 175 0 0 1 0 0 VTCN1 79679 broad.mit.edu 37 1 117699284 117699284 + Silent SNP G G A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:117699284G>A ENST00000369458.3 - 3 435 c.357C>T c.(355-357)aaC>aaT p.N119N VTCN1_ENST00000539893.1_Silent_p.N24N|VTCN1_ENST00000359008.4_Silent_p.N122N|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR NM_024626.3 NP_078902.2 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation inhibitor 1 119 Ig-like V-type 1. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) TGAGTTGCACGTTTTTCAGCC 0.453000 6 397 0 0 1 0 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305619 39305619 + Missense_Mutation SNP G G T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr17:39305619G>T ENST00000343246.4 - 1 435 c.401C>A c.(400-402)tCt>tAt p.S134Y NM_033188.3 NP_149445.3 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 139 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. keratin filament p.S134Y(2) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ttcacagcaagaggggtggca 0.637000 5 122 0.0215528 0.0218818 1 1 0 IL12RB2 3595 broad.mit.edu 37 1 67861733 67861733 + Frame_Shift_Del DEL G G - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:67861733delG ENST00000262345.1 + 16 3190 c.2550delG c.(2548-2550)ctfs p.L850fs IL12RB2_ENST00000544434.1_Frame_Shift_Del_p.L764fs|IL12RB2_ENST00000371000.1_3'UTR NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 850 positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 AGCTGACTCTGGATCAGTTAA 0.512 7 2062 --- --- --- --- SLC44A3 126969 broad.mit.edu 37 1 95357932 95357932 + Frame_Shift_Del DEL T T - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:95357932delT ENST00000271227.6 + 14 1818 c.1716delT c.(1714-1716)gcfs p.A572fs SLC44A3_ENST00000446120.2_Frame_Shift_Del_p.A536fs|SLC44A3_ENST00000532427.1_Frame_Shift_Del_p.A492fs|SLC44A3_ENST00000467909.1_Frame_Shift_Del_p.A524fs|SLC44A3_ENST00000527077.1_Frame_Shift_Del_p.A504fs|SLC44A3_ENST00000529450.1_Frame_Shift_Del_p.A539fs NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 572 integral to membrane|plasma membrane choline transmembrane transporter activity p.F526fs*4(1)|p.A575fs*7(1)|p.A527fs*7(1)|p.F574fs*4(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) TATTGGTAGCTTTTTTTGCCT 0.423 7 1051 --- --- --- --- SHC1 6464 broad.mit.edu 37 1 154936379 154936380 + Frame_Shift_Ins INS - - T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:154936379_154936380insT ENST00000448116.2 - 12 1874_1875 c.1654_1655insA c.(1654-1656)tgtfs p.C552fs SHC1_ENST00000368450.1_Frame_Shift_Ins_p.C441fs|SHC1_ENST00000368453.4_Frame_Shift_Ins_p.C442fs|SHC1_ENST00000490667.1_5'UTR|SHC1_ENST00000606391.1_Frame_Shift_Ins_p.C352fs|SHC1_ENST00000368445.5_Frame_Shift_Ins_p.C551fs|SHC1_ENST00000368449.4_Frame_Shift_Ins_p.C322fs NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 551 SH2. activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTGACTGACACTTTCAAAGCGG 0.510 11 507 --- --- --- --- SCYL3 57147 broad.mit.edu 37 1 169833511 169833511 + Splice_Site DEL T T - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:169833511delT ENST00000367772.4 - 9 1151 c.955_splice c.e9+1 p.K318_splice SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice|SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 318 cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGCATTCACCTTTTTTGGGGC 0.393 7 884 --- --- --- --- RASAL2 9462 broad.mit.edu 37 1 178412040 178412041 + Frame_Shift_Ins INS - - A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:178412040_178412041insA ENST00000448150.3 + 8 1922_1923 c.1104_1105insA c.(1102-1107)aaaaaafs p.KK368fs RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.KK386fs|RASAL2_ENST00000462775.1_Frame_Shift_Ins_p.KK238fs NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 238 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 TGGAAAAAAAGAAAAAAAAGGA 0.406 8 527 --- --- --- --- CR2 1380 broad.mit.edu 37 1 207642044 207642044 + Frame_Shift_Del DEL C C - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr1:207642044delC ENST00000367057.3 + 3 807 c.618delC c.(616-618)gtfs p.V206fs CR2_ENST00000367058.3_Frame_Shift_Del_p.V206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Frame_Shift_Del_p.V206fs|CR2_ENST00000367059.3_Frame_Shift_Del_p.V206fs NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 206 Sushi 3. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.T209fs*10(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GGAGTGCTGTCCCCCCCACAT 0.398 7 1030 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89082220 89082223 + RNA DEL TGAT TGAT - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr2:89082220_89082223delTGAT ENST00000393525.3 + 0 474 TGTGTACATATGATTGATTATGTA 0.328 7 222 --- --- --- --- AC079305.8 0 broad.mit.edu 37 2 178063463 178063463 + RNA DEL T T - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr2:178063463delT ENST00000455416.1 - 0 166 ATTCAATTGCttttttttttt 0.577 2 4 --- --- --- --- RP11-13J8.1 0 broad.mit.edu 37 2 201967218 201967218 + RNA DEL G G - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr2:201967218delG ENST00000448256.1 + 0 628 aaaaaaaaaagaaTTTGTTCT 0.463 7 37 --- --- --- --- CYP20A1 57404 broad.mit.edu 37 2 204150380 204150380 + Frame_Shift_Del DEL A A - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr2:204150380delA ENST00000356079.4 + 9 1019 c.896delA c.(895-897)cafs p.Q299fs CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 299 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 GAAGAAGTTCAAAAAAAATTA 0.348 7 553 --- --- --- --- EDEM1 9695 broad.mit.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:5248941delT ENST00000256497.4 + 7 1454 c.1321delT c.(1321-1323)ttfs p.F442fs EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 442 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTGCAGGCCTTTTTCCCTGG 0.463 8 353 --- --- --- --- OR5H15 403274 broad.mit.edu 37 3 97887844 97887844 + Frame_Shift_Del DEL T T - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:97887844delT ENST00000356526.2 + 1 301 c.301delT c.(301-303)ttfs p.F102fs NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CAAGATACAATTTTTTTCCAT 0.383 7 1377 --- --- --- --- SKIL 6498 broad.mit.edu 37 3 170078560 170078561 + Frame_Shift_Del DEL TG TG - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr3:170078560_170078561delTG ENST00000458537.3 + 1 1150_1151 c.441_442delTG c.(439-444)actgfs p.TV147fs SKIL_ENST00000259119.4_Frame_Shift_Del_p.TV147fs|SKIL_ENST00000413427.2_Frame_Shift_Del_p.TV147fs|SKIL_ENST00000426052.2_Frame_Shift_Del_p.TV127fs NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 147 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TCACTCAGACTGTGTTGGAAGG 0.450 12 1024 --- --- --- --- HGFAC 3083 broad.mit.edu 37 4 3443798 3443800 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr4:3443798_3443800delCTG ENST00000382774.3 + 1 185_187 c.70_72delCTG c.(70-72)del p.L29del HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 29 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCTCCTCCTCCTGCTGCTGCTGC 0.714 12 131 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 9 360 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 11 174 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544438 186544439 + Frame_Shift_Ins INS - - T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr4:186544438_186544439insT ENST00000431808.1 - 14 2695_2696 c.2132_2133insA c.(2131-2133)atcfs p.I711fs SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.I615fs|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.I711fs|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.I811fs|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 711 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) TAGGAGCCGAATTTTTTTTCCT 0.450 7 1066 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190878555 190878556 + Frame_Shift_Ins INS - - A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr4:190878555_190878556insA ENST00000226798.4 + 6 657_658 c.435_436insA c.(433-438)ggaaatfs p.N146fs FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 146 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TCACTTAGGGGAAAATGGCTTT 0.351 8 179 --- --- --- --- IRX4 50805 broad.mit.edu 37 5 1879669 1879671 + In_Frame_Del DEL CCT CCT - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr5:1879669_1879671delCCT ENST00000505790.1 - 5 1139_1141 c.683_685delAGG c.(682-687)ggg>g p.EG228del IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 228 Poly-Glu. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) tcctcgcccccctcctcctcctc 0.685 9 193 --- --- --- --- MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr6:29455156_29455157delAC ENST00000377127.3 - 1 581_582 c.523_524delGT c.(523-525)cfs p.V175fs NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGGAAGAGGACACACACACAC 0.495 7 323 --- --- --- --- LRRC73 221424 broad.mit.edu 37 6 43475289 43475291 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr6:43475289_43475291delTCC ENST00000372441.1 - 5 1683_1685 c.783_785delGGA c.(781-786)gaa>ga p.EE261del NM_001012974.1 NP_001012992.1 Q5JTD7 CF154_HUMAN leucine rich repeat containing 73 261 Poly-Glu. TCCTGCCACTTCCTCCTCCTCCT 0.631 7 242 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1099 Asp/Glu-rich (acidic). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCGCCCGCGGACGACGACGACG 0.650 7 568 --- --- --- --- RAB11FIP1 80223 broad.mit.edu 37 8 37728933 37728933 + Frame_Shift_Del DEL T T - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr8:37728933delT ENST00000330843.4 - 4 3399 c.3387delA c.(3385-3387)aafs p.K1129fs RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1129 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGCTGTGGCTTTTTTTTGAG 0.542 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 766 --- --- --- --- WHSC1L1 54904 broad.mit.edu 37 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr8:38205092delT ENST00000317025.8 - 2 1115 c.598delA c.(598-600)gcfs p.S200fs WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 200 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TGCTTGTTGCTTTTTTTCCTC 0.378 T NUP98 AML 8 1188 --- --- --- --- OR1N2 138882 broad.mit.edu 37 9 125315996 125315997 + Frame_Shift_Ins INS - - G TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr9:125315996_125315997insG ENST00000373688.2 + 1 606_607 c.548_549insG c.(547-549)ggcfs p.G183fs NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CTGACCCGCGTGGCTTTCTGTG 0.525 8 471 --- --- --- --- GPSM1 26086 broad.mit.edu 37 9 139235482 139235482 + Frame_Shift_Del DEL C C - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr9:139235482delC ENST00000392945.3 + 9 1459 c.1239delC c.(1237-1239)ctfs p.L413fs GPSM1_ENST00000440944.1_Intron NM_015597.4 NP_056412.4 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 0 Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity). cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) GGGTCTTGCTCCCCACAGGCA 0.687 14 12 --- --- --- --- PLA2G12B 84647 broad.mit.edu 37 10 74714396 74714397 + Frame_Shift_Ins INS - - C TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr10:74714396_74714397insC ENST00000373032.3 - 1 139_140 c.47_48insG c.(46-48)gggfs p.G16fs NM_032562.2 NP_115951.2 Q9BX93 PG12B_HUMAN phospholipase A2, group XIIB 16 lipid catabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 9 Prostate(51;0.0198) GAGCCAGGCCACCCCCAAGGCT 0.594 7 448 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396278 118396279 + RNA INS - - T rs11197776 by1000genomes TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr10:118396278_118396279insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) ACAAATTATGGTTTTTTTTTTC 0.426 7 62 --- --- --- --- TRIM51HP 0 broad.mit.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr11:55065032delT ENST00000526016.1 - 0 393 NR_038174.2 AAAGACTGCATTTTTTTTTAG 0.398 8 415 --- --- --- --- SYNE2 23224 broad.mit.edu 37 14 64488704 64488704 + Frame_Shift_Del DEL A A - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr14:64488704delA ENST00000358025.3 + 37 5712 c.5482delA c.(5482-5484)aafs p.K1829fs SYNE2_ENST00000344113.4_Frame_Shift_Del_p.K1829fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.K1829fs NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1829 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATTTAATACCAAAAAAAGTGT 0.318 9 470 --- --- --- --- TMED10 10972 broad.mit.edu 37 14 75601711 75601712 + Splice_Site INS - - A TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr14:75601711_75601712insA ENST00000303575.4 - 5 590 c.e5-2 RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) TTGTTGACTCTAAAAAAAAACA 0.426 8 257 --- --- --- --- RMDN3 55177 broad.mit.edu 37 15 41029893 41029894 + Frame_Shift_Ins INS - - T TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr15:41029893_41029894insT ENST00000260385.6 - 9 2223_2224 c.1156_1157insA c.(1156-1158)tgcfs p.C386fs RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs|RMDN3_ENST00000558560.1_5'UTR regulator of microtubule dynamics 3 GGCTGTAGCAGTTTTTTTTTCT 0.450 10 381 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29994531 29994533 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr16:29994531_29994533delGAG ENST00000308893.4 + 12 2181_2183 c.1138_1140delGAG c.(1138-1140)del p.E392del TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 392 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CAACgaggaagaggaggaggagg 0.611 9 207 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579321 7579322 + Frame_Shift_Del DEL CA CA - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr17:7579321_7579322delCA ENST00000420246.2 - 4 497_498 c.365_366delTG c.(364-366)gfs p.V122fs TP53_ENST00000413465.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V122fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V122fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 122 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> L (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGTGCAAGTCACAGACTTGGC 0.554 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 66 302 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - - GGC rs71338073 TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr18:77623691_77623692insGGC ENST00000316249.3 + 1 24_25 c.24_25insGGC c.(22-27)ccgcgg>ccGGCgcgg p.8_9PR>PAR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 8 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 3 5 --- --- --- --- ZNF552 79818 broad.mit.edu 37 19 58319468 58319468 + Frame_Shift_Del DEL T T - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr19:58319468delT ENST00000391701.1 - 3 1333 c.1164delA c.(1162-1164)aafs p.K388fs ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) TTTGCCTAAATTTTTTTTCAC 0.413 7 757 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 9 18 --- --- --- --- BACE2 25825 broad.mit.edu 37 21 42647459 42647461 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chr21:42647459_42647461delCTG ENST00000330333.6 + 9 1928_1930 c.1465_1467delCTG c.(1465-1467)del p.L492del BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000347667.4_In_Frame_Del_p.L442del NM_012105.3 NP_036237.2 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 492 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) CTTAATCGTCCTGCTGCTGCTGC 0.567 7 292 --- --- --- --- RNF128 79589 broad.mit.edu 37 X 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:105937256delT ENST00000324342.3 + 1 189 c.24delT c.(22-24)agfs p.S8fs NM_024539.3 NP_078815.3 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 0 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 ATAGGTCCAGTTTTTTTTGGC 0.343 9 375 --- --- --- --- CXorf56 63932 broad.mit.edu 37 X 118678401 118678405 + Frame_Shift_Del DEL AAGGT AAGGT - TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79ba3599-120a-44f6-892c-3c78b1f8205a b5fad5bc-47c4-4b2f-b9bc-c675f336d5ae g.chrX:118678401_118678405delAAGGT ENST00000320339.4 - 4 458_462 c.187_191delACCTT c.(187-192)cfs p.TF63fs CXorf56_ENST00000536133.1_Frame_Shift_Del_p.TF98fs|CXorf56_ENST00000371594.4_Frame_Shift_Del_p.TF112fs|CXorf56_ENST00000476164.1_Frame_Shift_Del_p.TF112fs|CXorf56_ENST00000486230.1_Frame_Shift_Del_p.TF112fs NM_001170569.1 NP_001164040.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 112 protein binding cervix(1)|endometrium(2)|lung(7) 10 ATCCACAATGAAGGTAACAGGAGCA 0.444 19 850 --- --- --- ---