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 FNDC1 84624 broad.mit.edu 37 6 159646637 159646637 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:159646637C>T ENST00000297267.9 + 8 1155 c.955C>T c.(955-957)Cgt>Tgt p.R319C FNDC1_ENST00000340366.6_Missense_Mutation_p.R319C|FNDC1_ENST00000480856.1_3'UTR NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 319 Fibronectin type-III 3. extracellular region p.R319C(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGCTAACAGGCGTGTGCTGAT 0.468000 17 378 0 0 1 0 0 IL17A 3605 broad.mit.edu 37 6 52052599 52052599 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:52052599C>T ENST00000340057.1 + 2 271 c.226C>T c.(226-228)Ctc>Ttc p.L76F NM_002190.2 NP_002181.1 Q16552 IL17_HUMAN interleukin 17A 76 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity p.L76F(1) endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1) 17 Lung NSC(77;0.116) ACCTTGGAATCTCCAGTACGT 0.418000 25 114 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857046 9857046 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:9857046C>T ENST00000396573.2 - 14 4664 c.4355G>A c.(4354-4356)cGc>cAc p.R1452H GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1452H|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1452H|GRIN2A_ENST00000535259.1_3'UTR NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1452 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.R1452H(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTTGTACACGCGTCTATTGCT 0.363000 13 124 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50474938 50474938 + RNA SNP C C G rs138936320 by1000genomes TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr19:50474938C>G ENST00000602139.1 + 0 1013 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 TCCAGAGAACCTGAGAGTGAT 0.592000 63 122 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216246606 216246606 + Missense_Mutation SNP C C A rs111033409 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:216246606C>A ENST00000366943.2 - 28 5995 c.5609G>T c.(5608-5610)cGg>cTg p.R1870L RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.R1870L|RP11-22M7.2_ENST00000446411.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1870 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.R1870L(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GACAGCACCCCGTGTAAATTT 0.433000 HNSCC(13;0.011) 16 72 0.000566183 0.000602649 1 1 0 EEF2 1938 broad.mit.edu 37 19 3976626 3976626 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr19:3976626C>A ENST00000309311.6 - 15 2591 c.2503G>T c.(2503-2505)Gtg>Ttg p.V835L NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 835 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity p.V835L(1) endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) GTCTCCGCCACCACCTGGCTG 0.657000 9 10 2.17888e-05 2.43476e-05 1 1 0 DIS3L2 129563 broad.mit.edu 37 2 233195486 233195486 + Splice_Site SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:233195486G>T ENST00000325385.7 + 16 2286 c.2010_splice c.e16+1 p.Q670_splice DIS3L2_ENST00000409307.1_Splice_Site_p.Q670_splice|DIS3L2_ENST00000273009.6_Intron NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 670 exonuclease activity|ribonuclease activity|RNA binding p.Q670H(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) GGCCCATGCAGGTAAGGAGGG 0.612000 91 233 7.61764e-41 1.27231e-40 1 1 0 ALDH1B1 219 broad.mit.edu 37 9 38395945 38395945 + Missense_Mutation SNP A A T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:38395945A>T ENST00000377698.3 + 2 353 c.200A>T c.(199-201)cAc>cTc p.H67L NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 67 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity p.H67F(1) NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GTCATTGGGCACGTGGCTGAA 0.607000 44 120 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55569185 55569185 + Missense_Mutation SNP C C G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:55569185C>G ENST00000395445.1 - 36 5019 c.4625G>C c.(4624-4626)aGa>aCa p.R1542T PCDH15_ENST00000395440.1_Missense_Mutation_p.R476T|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395442.1_Missense_Mutation_p.R407T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.R738T|PCDH15_ENST00000373965.2_Intron NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TATTCTGGCTCTCTTCCATGT 0.428000 HNSCC(58;0.16) 85 171 0 0 1 0 0 SOX11 6664 broad.mit.edu 37 2 5833563 5833563 + Missense_Mutation SNP T T A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:5833563T>A ENST00000322002.3 + 1 765 c.710T>A c.(709-711)cTg>cAg p.L237Q NM_003108.3 NP_003099.1 P35716 SOX11_HUMAN SRY (sex determining region Y)-box 11 237 cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding p.L237Q(1) central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) gaGCTGCAGCTGCAGATCAAA 0.687000 11 14 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93967241 93967241 + Splice_Site SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:93967241C>A ENST00000369303.4 - 12 2295 c.2110_splice c.e12-1 p.G704_splice NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 704 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.G704V(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GACTGGTTTCCCTAAAATTAA 0.368000 27 29 7.26314e-15 9.6229e-15 1 1 0 DICER1 23405 broad.mit.edu 37 14 95556997 95556997 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr14:95556997C>A ENST00000541352.1 - 25 5452 c.5444G>T c.(5443-5445)cGg>cTg p.R1815L DICER1_ENST00000526495.1_Silent_p.P1869P|DICER1_ENST00000343455.3_Silent_p.P1869P|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Silent_p.P1869P|DICER1_ENST00000527414.1_Silent_p.P1869P|DICER1_ENST00000556045.1_Silent_p.P767P NM_001195573.1 NP_001182502.1 Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 0 RNase III 2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity p.P1869P(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TTCTCTCAGCCGGGCTGTAAA 0.433000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 132 273 4.74804e-72 8.56831e-72 1 1 0 FAM65C 140876 broad.mit.edu 37 20 49218951 49218951 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr20:49218951G>A ENST00000327979.2 - 13 1716 c.1305C>T c.(1303-1305)caC>caT p.H435H FAM65C_ENST00000535356.1_Silent_p.H439H|FAM65C_ENST00000045083.2_Silent_p.H435H Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 435 p.H435H(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAATGGAGGCGTGGGGACCGA 0.652000 30 90 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97158866 97158866 + Missense_Mutation SNP C C G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:97158866C>G ENST00000371247.2 - 12 1255 c.1066G>C c.(1066-1068)Gaa>Caa p.E356Q SORBS1_ENST00000371241.1_Missense_Mutation_p.E192Q|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000607232.1_Missense_Mutation_p.E191Q|SORBS1_ENST00000371227.4_Missense_Mutation_p.E356Q|SORBS1_ENST00000354106.3_Missense_Mutation_p.E347Q|SORBS1_ENST00000371249.2_Missense_Mutation_p.E324Q|SORBS1_ENST00000361941.3_Missense_Mutation_p.E356Q|SORBS1_ENST00000277982.5_Missense_Mutation_p.E356Q|SORBS1_ENST00000371245.3_Missense_Mutation_p.E287Q|SORBS1_ENST00000353505.5_Missense_Mutation_p.E287Q|SORBS1_ENST00000371239.1_Missense_Mutation_p.E201Q|SORBS1_ENST00000371246.2_Missense_Mutation_p.E356Q|SORBS1_ENST00000393949.1_Missense_Mutation_p.E347Q|SORBS1_ENST00000347291.4_Missense_Mutation_p.E224Q|SORBS1_ENST00000306402.6_Missense_Mutation_p.E233Q Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 356 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity p.E287Q(1)|p.E356Q(1) NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GCTCTTTTTTCAATAGCCTTG 0.493000 25 65 0 0 1 0 0 CCHCR1 54535 broad.mit.edu 37 6 31113225 31113225 + Splice_Site SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:31113225C>A ENST00000396268.3 - 12 1927 c.1739_splice c.e12+1 p.S580_splice CCHCR1_ENST00000376266.5_Splice_Site_p.S491_splice|CCHCR1_ENST00000451521.2_Splice_Site_p.S544_splice|CCHCR1_ENST00000396263.2_Intron NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 491 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding p.S491I(1)|p.S580I(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 CAAACTTCACCTCTCCTGGCG 0.552000 40 91 2.13384e-23 3.08767e-23 1 1 0 GGT5 2687 broad.mit.edu 37 22 24621594 24621594 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr22:24621594C>A ENST00000327365.4 - 9 1672 c.1256G>T c.(1255-1257)cGg>cTg p.R419L GGT5_ENST00000263112.7_Missense_Mutation_p.R387L|GGT5_ENST00000418439.2_Missense_Mutation_p.R342L|GGT5_ENST00000398292.3_Missense_Mutation_p.R419L NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 419 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity p.R419L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 GATGCCTGTCCGTGGTGAATA 0.617000 6 36 0.217242 0.218635 1 1 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973557 29973557 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:29973557C>A ENST00000378993.1 + 11 2384 c.1711C>A c.(1711-1713)Cag>Aag p.Q571K IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.Q571K NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 571 Interaction with NCS1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity p.Q571K(2) biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TACACATGAGCAGGCTTTAGA 0.493000 17 19 1.5739e-10 1.92297e-10 1 1 0 LGR6 59352 broad.mit.edu 37 1 202287648 202287648 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:202287648G>T ENST00000367278.3 + 18 2306 c.2217G>T c.(2215-2217)atG>atT p.M739I LGR6_ENST00000255432.7_Missense_Mutation_p.M687I|LGR6_ENST00000439764.2_Missense_Mutation_p.M600I NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 739 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 TGGTGATGATGAACTCCTTCT 0.637000 18 83 0.0438628 0.0445725 1 1 0 ACTN2 88 broad.mit.edu 37 1 236891000 236891000 + Missense_Mutation SNP T T A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:236891000T>A ENST00000366578.4 + 6 725 c.559T>A c.(559-561)Tgt>Agt p.C187S ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.C187S NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 187 Actin-binding.|CH 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding p.C187S(1) endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CCTTGGACTCTGTGCCCTCAT 0.547000 44 119 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579564 82579564 + Missense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:82579564G>A ENST00000423517.2 - 6 10677 c.10340C>T c.(10339-10341)aCg>aTg p.T3447M PCLO_ENST00000437081.1_Missense_Mutation_p.T167M|PCLO_ENST00000333891.8_Missense_Mutation_p.T3447M NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3378 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.T3447M(2)|p.T3378M(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTCGTCATCCGTTTGTACACC 0.433000 54 120 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101095868 101095868 + Splice_Site SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:101095868C>A ENST00000537026.1 - 9 840 c.e9-1 NXF5_ENST00000473265.2_Splice_Site|NXF5_ENST00000361708.2_Splice_Site NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.?(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 AAGACAACAGCTTTGGGTCAA 0.483000 12 55 3.32936e-07 3.88632e-07 1 1 0 HCN1 348980 broad.mit.edu 37 5 45262097 45262097 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:45262097G>T ENST00000303230.4 - 8 2656 c.2599C>A c.(2599-2601)Ctt>Att p.L867I NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 867 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.L867I(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TCTCTTGGAAGAGCAGCTGCT 0.552000 69 243 7.45626e-27 1.12561e-26 1 1 0 TCN1 6947 broad.mit.edu 37 11 59626664 59626664 + Silent SNP T T C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:59626664T>C ENST00000257264.3 - 5 737 c.633A>G c.(631-633)gaA>gaG p.E211E TCN1_ENST00000532419.1_Intron NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 211 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding p.E211E(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTAAACTGCCTTCATCTGCTT 0.388000 36 205 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43523176 43523176 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr19:43523176G>T ENST00000401740.1 - 3 558 c.455C>A c.(454-456)tCc>tAc p.S152Y PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Missense_Mutation_p.S30Y|PSG11_ENST00000320078.7_Missense_Mutation_p.S152Y|PSG11_ENST00000306322.7_Missense_Mutation_p.S30Y Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 152 Ig-like C2-type 1. female pregnancy extracellular region p.S152Y(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) GTTGCTGCTGGAGATGGAGGG 0.502000 84 303 1.69331e-39 2.79842e-39 1 1 0 MALAT1 378938 broad.mit.edu 37 11 65272124 65272124 + RNA SNP T T C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:65272124T>C ENST00000534336.1 + 0 6892 NR_002819.2 TTTAGTCTTTTCCAGATGCAA 0.368000 18 47 0 0 1 0 0 ITGB1 3688 broad.mit.edu 37 10 33214878 33214878 + Missense_Mutation SNP A A G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:33214878A>G ENST00000396033.2 - 6 842 c.707T>C c.(706-708)gTt>gCt p.V236A ITGB1_ENST00000423113.1_Missense_Mutation_p.V236A|ITGB1_ENST00000302278.3_Missense_Mutation_p.V236A|ITGB1_ENST00000374956.4_Missense_Mutation_p.V236A NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 236 VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity p.V236A(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) CTGTTTTCCAACAAGTTCATT 0.413000 27 174 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38835490 38835490 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:38835490G>A ENST00000449082.2 - 1 11 c.12C>T c.(10-12)ccC>ccT p.P4P NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 4 sensory perception voltage-gated sodium channel complex p.P4P(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGGATCCAATGGGGAATTCCA 0.473000 34 169 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113194879 113194879 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:113194879C>A ENST00000401783.2 - 31 5432 c.5096G>T c.(5095-5097)gGc>gTc p.G1699V SVEP1_ENST00000374469.1_Missense_Mutation_p.G1676V NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1699 Sushi 6. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.G1702V(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TGAATGGAAGCCATTCTCCAA 0.453000 57 173 9.59449e-18 1.33896e-17 1 1 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T T G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:90126823T>G ENST00000449207.2 - 9 1178 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 4 147 0 0 1 0 0 MAP7D2 256714 broad.mit.edu 37 X 20034374 20034374 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:20034374C>A ENST00000379651.3 - 10 1377 c.1359G>T c.(1357-1359)aaG>aaT p.K453N MAP7D2_ENST00000452324.3_Missense_Mutation_p.K401N|MAP7D2_ENST00000443379.3_Missense_Mutation_p.K408N|MAP7D2_ENST00000379643.5_Missense_Mutation_p.K494N|MAP7D2_ENST00000543767.1_Missense_Mutation_p.K338N NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 453 p.K453N(1)|p.K494N(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 cttcttcctgctttcgggctt 0.493000 10 16 7.48243e-07 8.66968e-07 1 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77359897 77359897 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:77359897C>T ENST00000282849.5 - 13 2316 c.1898G>A c.(1897-1899)cGt>cAt p.R633H NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 633 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CTGATAAATACGGCTAGAACC 0.393000 12 115 0 0 1 0 0 MS4A14 84689 broad.mit.edu 37 11 60183087 60183087 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:60183087C>A ENST00000300187.6 + 5 923 c.646C>A c.(646-648)Cct>Act p.P216T MS4A14_ENST00000395005.2_Missense_Mutation_p.P199T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.P249T|MS4A14_ENST00000531787.1_Missense_Mutation_p.P104T NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 216 integral to membrane receptor activity p.P216T(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 CTCTAGGAGTCCTTTAGTCTC 0.383000 14 147 3.27435e-08 3.85074e-08 1 1 0 ITGAM 3684 broad.mit.edu 37 16 31283251 31283251 + Silent SNP G G C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:31283251G>C ENST00000544665.3 + 7 713 c.642G>C c.(640-642)ctG>ctC p.L214L ITGAM_ENST00000287497.8_Silent_p.L214L NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 214 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity p.L214L(1) endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CAAGATCACTGGTGAAGCCAA 0.537000 60 183 0 0 1 0 0 TAAR2 9287 broad.mit.edu 37 6 132938904 132938904 + Nonsense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:132938904G>T ENST00000275191.2 - 1 413 c.306C>A c.(304-306)taC>taA p.Y102* TAAR2_ENST00000367931.1_Nonsense_Mutation_p.Y147*|TAAR2_ENST00000537809.1_Nonsense_Mutation_p.Y102* NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 147 plasma membrane G-protein coupled receptor activity p.Y147*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) AAAGTAATGGGTAACATATAG 0.368000 40 76 2.42038e-35 3.89744e-35 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274206 39274206 + Missense_Mutation SNP C C T rs79388709 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:39274206C>T ENST00000391413.2 - 1 400 c.362G>A c.(361-363)aGa>aAa p.R121K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 121 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.R121K(5) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gcactggggtctgcagcagct 0.652000 5 127 0 0 1 0 0 EHD2 30846 broad.mit.edu 37 19 48244176 48244176 + Silent SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr19:48244176G>T ENST00000263277.3 + 6 1370 c.1119G>T c.(1117-1119)tcG>tcT p.S373S EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Silent_p.S237S NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 373 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding p.S373S(1) endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) AGTTTCACTCGCTGAAGCCGA 0.637000 12 39 6.42651e-13 8.33853e-13 1 1 0 ADIPOR1 51094 broad.mit.edu 37 1 202912952 202912952 + Missense_Mutation SNP T T G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:202912952T>G ENST00000340990.5 - 6 1037 c.739A>C c.(739-741)Att>Ctt p.I247L ADIPOR1_ENST00000367254.3_Missense_Mutation_p.H157P|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.I247L NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 247 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity p.I247L(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) ATGGCAGAAATGCCCAGGACA 0.537000 26 81 0 0 1 0 0 CA4 762 broad.mit.edu 37 17 58236769 58236769 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:58236769C>T ENST00000300900.4 + 8 1022 c.923C>T c.(922-924)gCc>gTc p.A308V NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 308 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) TGCCTGCTGGCCGGCTTCCTG 0.682000 9 41 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111480849 111480849 + Nonsense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:111480849G>T ENST00000265162.5 + 19 3031 c.2689G>T c.(2689-2691)Gag>Tag p.E897* ENPEP_ENST00000504100.1_3'UTR NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 897 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding p.E897*(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CACAATAGCAGAGCCATTCAA 0.353000 16 77 5.03518e-11 6.34959e-11 1 1 0 CSAG4 100130935 broad.mit.edu 37 X 151896334 151896334 + RNA SNP G G A rs2515828 by1000genomes TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:151896334G>A ENST00000361201.4 - 0 396 NR_073432.1 p.P26P(2) endometrium(2)|kidney(2)|lung(1) 5 GTTCCCTTCCGGGTTGTCTTG 0.527000 5 117 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130940 45130940 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr20:45130940C>A ENST00000457685.2 - 6 2247 c.924G>T c.(922-924)gaG>gaT p.E308D ZNF334_ENST00000347606.4_Missense_Mutation_p.E346D|ZNF334_ENST00000593880.1_Missense_Mutation_p.E369D Q9HCZ1 ZN334_HUMAN zinc finger protein 334 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E346D(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) CGTAAGGCTTCTCCCCTGTGT 0.428000 73 296 1.24833e-42 2.15372e-42 1 1 0 NEB 4703 broad.mit.edu 37 2 152527651 152527651 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:152527651G>A ENST00000397345.3 - 38 4594 c.4392C>T c.(4390-4392)ggC>ggT p.G1464G NEB_ENST00000603639.1_Silent_p.G1464G|NEB_ENST00000604864.1_Silent_p.G1464G|NEB_ENST00000409198.1_Silent_p.G1464G|NEB_ENST00000427231.2_Silent_p.G1464G|NEB_ENST00000172853.10_Silent_p.G1464G NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1464 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle p.G1464G(2) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTAATGCATCGCCTGCTTTCT 0.463000 5 99 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88300589 88300589 + Nonsense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:88300589G>T ENST00000418177.2 - 8 2629 c.2262C>A c.(2260-2262)tgC>tgA p.C754* GRM5_ENST00000393297.1_Nonsense_Mutation_p.C754*|GRM5_ENST00000305432.5_Nonsense_Mutation_p.C754*|GRM5_ENST00000305447.4_Nonsense_Mutation_p.C754*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.C754* P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 754 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.C754*(2) NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CATAGAAGGTGCAGCTCAAAA 0.443000 76 145 1.94393e-27 2.96308e-27 1 1 0 TMPRSS11D 9407 broad.mit.edu 37 4 68699064 68699064 + Missense_Mutation SNP C C G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:68699064C>G ENST00000283916.6 - 7 648 c.550G>C c.(550-552)Gag>Cag p.E184Q TMPRSS11D_ENST00000509584.1_5'UTR|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.E67Q NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 184 proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity p.E184Q(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 ATTCTCTGCTCAGACAATGTT 0.507000 18 355 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637257 248637257 + Silent SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:248637257G>T ENST00000359594.2 + 1 631 c.606G>T c.(604-606)acG>acT p.T202T NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T202T(1) breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTATAAGACGCTCATGTACC 0.512000 92 107 7.90906e-34 1.26706e-33 1 1 0 EEF2 1938 broad.mit.edu 37 19 3976627 3976627 + Silent SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr19:3976627C>A ENST00000309311.6 - 15 2590 c.2502G>T c.(2500-2502)gtG>gtT p.V834V NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 834 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity p.V835L(1) endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) TCTCCGCCACCACCTGGCTGG 0.657000 9 9 2.17888e-05 2.43476e-05 1 1 0 INTS1 26173 broad.mit.edu 37 7 1535817 1535817 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:1535817G>A ENST00000389470.4 - 13 2069 c.2070C>T c.(2068-2070)atC>atT p.I690I INTS1_ENST00000404767.3_Silent_p.I562I Q8N201 INT1_HUMAN integrator complex subunit 1 562 snRNA processing integral to membrane|integrator complex|nuclear membrane p.I690I(1) autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TGTCCCAGGCGATGCCGGCCT 0.657000 12 146 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38949877 38949877 + Silent SNP C C G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr19:38949877C>G ENST00000355481.4 + 19 2390 c.2259C>G c.(2257-2259)tcC>tcG p.S753S RYR1_ENST00000359596.3_Silent_p.S753S|RYR1_ENST00000360985.3_Silent_p.S753S NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 753 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.S753S(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCGTGCCGTCCATCTCCTTCC 0.622000 34 49 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75078524 75078524 + Nonsense_Mutation SNP T T A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr14:75078524T>A ENST00000261978.4 - 1 510 c.124A>T c.(124-126)Aga>Tga p.R42* LTBP2_ENST00000556690.1_Nonsense_Mutation_p.R42*|LTBP2_ENST00000557425.1_Intron NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 42 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding p.R42*(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGCTCGTATCTCCCTACGGGG 0.701000 7 40 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144993918 144993918 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr8:144993918G>A ENST00000322810.4 - 32 10651 c.10482C>T c.(10480-10482)ctC>ctT p.L3494L PLEC_ENST00000345136.3_Silent_p.L3357L|PLEC_ENST00000527096.1_Silent_p.L3380L|PLEC_ENST00000436759.2_Silent_p.L3384L|PLEC_ENST00000354958.2_Silent_p.L3335L|PLEC_ENST00000398774.2_Silent_p.L3325L|PLEC_ENST00000357649.2_Silent_p.L3361L|PLEC_ENST00000356346.3_Silent_p.L3343L|PLEC_ENST00000354589.3_Silent_p.L3357L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3494 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle p.L3384L(1)|p.L3357L(1)|p.L3494L(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGATGCCGGCGAGGCAGCCAC 0.657000 32 74 0 0 1 0 0 OR51I2 390064 broad.mit.edu 37 11 5474954 5474954 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:5474954C>A ENST00000341449.2 + 1 317 c.236C>A c.(235-237)cCc>cAc p.P79H AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P79H(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCACACTGCCCACTGTACTC 0.502000 36 130 9.80977e-26 1.45296e-25 1 1 0 GFPT2 9945 broad.mit.edu 37 5 179734239 179734239 + Silent SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:179734239C>A ENST00000253778.8 - 16 1780 c.1611G>T c.(1609-1611)acG>acT p.T537T NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 537 SIS 2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding p.T537T(1) breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) GCGATCTCTGCGTGTAGAGCT 0.632000 21 47 6.44725e-10 7.75646e-10 1 1 0 DGUOK 1716 broad.mit.edu 37 2 74166086 74166086 + Silent SNP A A G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:74166086A>G ENST00000264093.4 + 2 277 c.192A>G c.(190-192)gaA>gaG p.E64E DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Silent_p.E64E|DGUOK_ENST00000462685.1_Intron NM_080916.2 NP_550438.1 Q16854 DGUOK_HUMAN deoxyguanosine kinase 64 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor p.E64E(1) endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 8 CTTACCCAGAATGGCACGTAG 0.473000 28 151 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237880547 237880547 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:237880547G>T ENST00000366574.2 + 72 10690 c.10373G>T c.(10372-10374)cGg>cTg p.R3458L RYR2_ENST00000542537.1_Missense_Mutation_p.R3442L|RYR2_ENST00000360064.6_Missense_Mutation_p.R3456L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3458 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.R3456L(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAAGGAGATCGGTATTCCATG 0.493000 19 62 1.01871e-10 1.25935e-10 1 1 0 PTPN13 5783 broad.mit.edu 37 4 87730997 87730997 + Missense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:87730997G>A ENST00000436978.1 + 46 7654 c.7174G>A c.(7174-7176)Gat>Aat p.D2392N PTPN13_ENST00000511467.1_Missense_Mutation_p.D2392N|PTPN13_ENST00000316707.6_Missense_Mutation_p.D2196N|PTPN13_ENST00000411767.2_Missense_Mutation_p.D2387N|PTPN13_ENST00000427191.2_Missense_Mutation_p.D2368N NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 2387 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity p.D2392N(1) NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCAACCAGATGATCTGCTTAC 0.458000 23 133 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162830770 162830770 + Silent SNP T T C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:162830770T>C ENST00000375514.5 + 24 3401 c.3114T>C c.(3112-3114)agT>agC p.S1038S SLC4A10_ENST00000272716.5_Silent_p.S1027S|SLC4A10_ENST00000446997.1_Silent_p.S1057S|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Silent_p.S1027S NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 1057 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity p.S1057S(1)|p.C1027C(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AAGAACAAAGTATGCTAGCTA 0.323000 7 23 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91816323 91816323 + Silent SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:91816323G>T ENST00000370425.3 - 18 2276 c.2178C>A c.(2176-2178)atC>atA p.I726I HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Silent_p.I405I|HFM1_ENST00000462405.1_Intron NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 726 ATP binding|ATP-dependent helicase activity|nucleic acid binding p.I726I(1) breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TCAAGGCTCTGATATAAAGCA 0.343000 25 138 5.61819e-17 7.67005e-17 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33338167 33338167 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr20:33338167C>A ENST00000374796.2 - 10 4401 c.1831G>T c.(1831-1833)Ggc>Tgc p.G611C NCOA6_ENST00000359003.2_Missense_Mutation_p.G611C Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 611 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.G611C(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 TGGGGCTGGCCTTGCATGTTG 0.557000 23 97 1.50039e-11 1.91513e-11 1 1 0 FBXO38 81545 broad.mit.edu 37 5 147813274 147813274 + Missense_Mutation SNP A A T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:147813274A>T ENST00000340253.5 + 17 2999 c.2831A>T c.(2830-2832)gAc>gTc p.D944V FBXO38_ENST00000394370.3_Missense_Mutation_p.D869V|FBXO38_ENST00000513826.1_Missense_Mutation_p.D699V|FBXO38_ENST00000296701.6_Missense_Mutation_p.D699V Q6PIJ6 FBX38_HUMAN F-box protein 38 944 cytoplasm|nucleus p.D944V(1) ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCTAAAAGACTGTCCAAAG 0.333000 49 201 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55532290 55532290 + Nonsense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:55532290C>T ENST00000219070.4 + 11 2208 c.1699C>T c.(1699-1701)Cga>Tga p.R567* MMP2_ENST00000570308.1_Nonsense_Mutation_p.R491*|MMP2_ENST00000543485.1_Nonsense_Mutation_p.R491*|MMP2_ENST00000437642.2_Nonsense_Mutation_p.R517* NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 567 Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding p.R567*(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) TGATGTCCAGCGAGTGGATGC 0.562000 22 142 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5068622 5068622 + Silent SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:5068622C>T ENST00000380370.1 + 1 867 c.867C>T c.(865-867)aaC>aaT p.N289N NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N289N(1) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTCTCTCAACCCCATCATTT 0.388000 42 121 0 0 1 0 0 PTH 5741 broad.mit.edu 37 11 13514010 13514010 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:13514010C>T ENST00000282091.1 - 3 404 c.290G>A c.(289-291)aGt>aAt p.S97N PTH_ENST00000529816.1_Missense_Mutation_p.S97N NM_000315.2 NP_000306.1 P01270 PTHY_HUMAN parathyroid hormone 97 bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development hormone activity|peptide hormone receptor binding p.S97N(1) endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) CTCTCCAAGACTTTTTTCATG 0.433000 26 108 0 0 1 0 0 CTBP1-AS2 92070 broad.mit.edu 37 4 1244973 1244973 + RNA SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:1244973G>T ENST00000581398.1 + 0 927 CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA NR_033339.1 TGTTCCAAGCGCTGCCTTCTC 0.567000 10 27 0.000442599 0.000472708 1 1 0 LSM2 57819 broad.mit.edu 37 6 31765615 31765615 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:31765615G>A ENST00000375661.5 - 5 433 c.207C>T c.(205-207)taC>taT p.Y69Y LSM2_ENST00000491421.1_5'UTR NM_021177.4 NP_067000.1 Q9Y333 LSM2_HUMAN LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) 69 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytosol|nucleoplasm U6 snRNA binding p.Y69Y(1) large_intestine(1)|lung(1) 2 GCAGCTGCACGTATCGGACCA 0.502000 35 473 0 0 1 0 0 CNOT6 57472 broad.mit.edu 37 5 179976929 179976929 + Splice_Site SNP A A G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:179976929A>G ENST00000393356.1 + 5 536 c.e5-1 CNOT6_ENST00000261951.4_Splice_Site|CNOT6_ENST00000502447.1_Splice_Site Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding p.?(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) TTTCTCTTACAGGAAAAGTAA 0.343000 129 216 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70517776 70517776 + Missense_Mutation SNP T T C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:70517776T>C ENST00000323786.5 - 14 1828 c.1807A>G c.(1807-1809)Aaa>Gaa p.K603E NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 599 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding p.K603E(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) TCTCGGAATTTGTTGGACACG 0.552000 42 156 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11732279 11732279 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:11732279G>T ENST00000304623.8 - 2 332 c.143C>A c.(142-144)aCc>aAc p.T48N CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.T48N NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 48 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.T48N(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GATGGCAGAGGTGGTTTCTGT 0.473000 44 368 6.21074e-16 8.29861e-16 1 1 0 HTATSF1 27336 broad.mit.edu 37 X 135593999 135593999 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:135593999G>T ENST00000535601.1 + 10 2517 c.2095G>T c.(2095-2097)Gat>Tat p.D699Y HTATSF1_ENST00000218364.4_Missense_Mutation_p.D699Y NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 699 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding p.D699Y(1) NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) GTTGTTCGAAGATGATGATTC 0.428000 57 48 8.44121e-28 1.29295e-27 1 1 0 ACAN 176 broad.mit.edu 37 15 89402517 89402517 + Missense_Mutation SNP T T C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr15:89402517T>C ENST00000439576.2 + 12 7075 c.6701T>C c.(6700-6702)cTa>cCa p.L2234P ACAN_ENST00000559004.1_Missense_Mutation_p.L2234P|ACAN_ENST00000352105.7_Missense_Mutation_p.L2234P|ACAN_ENST00000561243.1_Missense_Mutation_p.L2234P NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2234 cell adhesion hyaluronic acid binding|sugar binding p.L2120P(2) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GAGACGCATCTAGAAATTGAG 0.572000 9 42 0 0 1 0 0 OR5B2 390190 broad.mit.edu 37 11 58189942 58189942 + Missense_Mutation SNP A A C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:58189942A>C ENST00000302581.2 - 1 844 c.793T>G c.(793-795)Tcc>Gcc p.S265A NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S265A(1)|p.S265T(1) NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) GTGTCCATGGAGTGGCTGGAG 0.498000 22 100 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48614316 48614316 + Splice_Site SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:48614316C>T ENST00000328333.8 - 66 5712 c.e66+1 COL7A1_ENST00000454817.1_Splice_Site NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.?(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCAATACTCACTTCTCTCCCA 0.557000 25 100 0 0 1 0 0 C16orf92 146378 broad.mit.edu 37 16 30035098 30035098 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:30035098C>T ENST00000300575.2 + 2 202 c.181C>T c.(181-183)Cgc>Tgc p.R61C NM_001109659.1|NM_001109660.1 NP_001103129.1|NP_001103130.1 Q96LL3 CP092_HUMAN chromosome 16 open reading frame 92 61 integral to membrane p.R61C(1) breast(3)|lung(3) 6 AGAGTCTCCGCGCTTCTTAGA 0.567000 5 85 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26596496 26596496 + Missense_Mutation SNP T T A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr12:26596496T>A ENST00000381340.3 - 46 6846 c.6430A>T c.(6430-6432)Aac>Tac p.N2144Y NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2144 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.N2144Y(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GCAGTGTGGTTGGCATAATAC 0.393000 32 62 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90504317 90504317 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:90504317C>A ENST00000369393.3 - 3 648 c.533G>T c.(532-534)aGc>aTc p.S178I MDN1_ENST00000428876.1_Missense_Mutation_p.S178I Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 178 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.S178I(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GGTGTCATGGCTTCTGAGGAG 0.547000 49 72 1.11015e-26 1.66788e-26 1 1 0 STXBP5L 9515 broad.mit.edu 37 3 120876387 120876387 + Missense_Mutation SNP C C G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:120876387C>G ENST00000273666.6 + 9 1061 c.790C>G c.(790-792)Cag>Gag p.Q264E STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q264E|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q264E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q264E|STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q264E NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 264 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane p.Q264E(1) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TGAGGGCAAACAGTTCATGTG 0.378000 45 93 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26509306 26509306 + Silent SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:26509306C>A ENST00000244513.6 + 7 1551 c.1485C>A c.(1483-1485)atC>atA p.I495I NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 495 extracellular region|integral to plasma membrane receptor activity p.I495I(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 CTAAGGAGATCCCATTGTCCC 0.542000 61 287 1.1362e-29 1.77495e-29 1 1 0 ARHGEF1 9138 broad.mit.edu 37 19 42399487 42399487 + Missense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr19:42399487G>A ENST00000599846.1 + 12 1068 c.943G>A c.(943-945)Ggg>Agg p.G315R ARHGEF1_ENST00000354532.3_Missense_Mutation_p.G315R|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.G282R|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.G330R|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.G297R Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 315 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity p.G330R(1) breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) CCGGAATATCGGGGCTCCTGG 0.637000 14 151 0 0 1 0 0 SLC35B2 347734 broad.mit.edu 37 6 44222605 44222605 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:44222605G>A ENST00000393812.3 - 4 1280 c.1137C>T c.(1135-1137)atC>atT p.I379I SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_Silent_p.I246I|SLC35B2_ENST00000538577.1_Silent_p.I286I|SLC35B2_ENST00000393810.1_3'UTR NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 379 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity p.I379I(1) breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGGAAAGAAGGATGGCAAAGG 0.592000 6 105 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50535205 50535205 + Splice_Site SNP T T A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr15:50535205T>A ENST00000267845.3 - 12 1645 c.e12-2 HDC_ENST00000543581.1_Splice_Site NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity p.?(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) ATTAGGACCCTGTTTGAAAAA 0.488000 32 56 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124819067 124819067 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr12:124819067C>A ENST00000356219.3 - 42 6684 c.6529G>T c.(6529-6531)Gtc>Ttc p.V2177F NCOR2_ENST00000404121.2_Missense_Mutation_p.V1731F|NCOR2_ENST00000429285.2_Missense_Mutation_p.V2160F|NCOR2_ENST00000397355.1_Missense_Mutation_p.V2161F|NCOR2_ENST00000405201.1_Missense_Mutation_p.V2170F|NCOR2_ENST00000404621.1_Missense_Mutation_p.V2160F NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 2181 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) AGGTCCAGGACGGGGCAGCTG 0.721000 4 12 0.000602214 0.000630318 1 1 0 EPHB6 2051 broad.mit.edu 37 7 142562293 142562293 + Silent SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:142562293G>T ENST00000392957.2 + 7 1522 c.735G>T c.(733-735)acG>acT p.T245T EPHB6_ENST00000442129.1_Silent_p.T245T|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 245 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity p.T230T(1) NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TTCCAGAGACGCAGGCCAGTG 0.672000 107 170 3.36245e-48 5.89838e-48 1 1 0 FGD3 89846 broad.mit.edu 37 9 95773546 95773546 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:95773546C>T ENST00000375482.3 + 8 1523 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W FGD3_ENST00000416701.2_Missense_Mutation_p.R343W|FGD3_ENST00000337352.6_Missense_Mutation_p.R343W NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 343 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.R343W(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 TGCTGCCATTCGGAAAGTGGT 0.627000 32 107 0 0 1 0 0 FBXO47 494188 broad.mit.edu 37 17 37099079 37099079 + Silent SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:37099079C>A ENST00000378079.2 - 9 1234 c.1035G>T c.(1033-1035)gtG>gtT p.V345V NM_001008777.2 NP_001008777.2 Q5MNV8 FBX47_HUMAN F-box protein 47 345 p.V345V(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 TGCGTCCATTCACAGCTTTAC 0.398000 72 104 6.86016e-32 1.08246e-31 1 1 0 RP11-383H13.1 0 broad.mit.edu 37 8 72755870 72755870 + Silent SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr8:72755870G>T ENST00000537896.1 + 1 504 c.234G>T c.(232-234)ccG>ccT p.P78P RP11-383H13.1_ENST00000524152.1_5'UTR|MSC_ENST00000325509.4_Intron|RP11-383H13.1_ENST00000521467.1_Intron p.?(1) lung(1) 1 CTTGCGCGCCGCGCCCCTACC 0.652000 OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 92 1.13719e-10 1.40031e-10 1 1 0 SLC5A1 6523 broad.mit.edu 37 22 32439311 32439311 + Silent SNP C C A rs33915717 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr22:32439311C>A ENST00000266088.4 + 1 293 c.43C>A c.(43-45)Cgg>Agg p.R15R NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 15 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding p.R15R(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 CGCGGTCACCCGGCCTGTTGA 0.602000 13 40 6.72482e-11 8.41273e-11 1 1 0 GFRA1 2674 broad.mit.edu 37 10 117885022 117885022 + Silent SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:117885022G>T ENST00000439649.3 - 5 832 c.465C>A c.(463-465)gcC>gcA p.A155A GFRA1_ENST00000369236.1_Silent_p.A155A|GFRA1_ENST00000355422.6_Silent_p.A160A|GFRA1_ENST00000544592.1_Silent_p.A39A NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 160 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity p.A155A(1) endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) CGAGGTTGCAGGCCTTCGCTG 0.562000 8 43 0.000157383 0.000171592 1 1 0 CD4 920 broad.mit.edu 37 12 6909341 6909341 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr12:6909341G>T ENST00000011653.4 + 2 295 c.37G>T c.(37-39)Gtg>Ttg p.V13L CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Missense_Mutation_p.V13L NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 13 cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding p.V13L(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) CTTGCTTCTGGTGCTGCAACT 0.597000 18 121 5.03518e-11 6.34959e-11 1 1 0 FAT3 120114 broad.mit.edu 37 11 92613965 92613965 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:92613965C>T ENST00000298047.6 + 22 12213 c.12196C>T c.(12196-12198)Cca>Tca p.P4066S FAT3_ENST00000533797.1_Missense_Mutation_p.P401S|FAT3_ENST00000525166.1_Missense_Mutation_p.P3916S|FAT3_ENST00000409404.2_Missense_Mutation_p.P4066S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4066 EGF-like 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.P4066S(2)|p.P641S(1) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGCCTGCTTCCCAAACCCCTG 0.493000 TCGA Ovarian(4;0.039) 138 246 0 0 1 0 0 ELAVL3 1995 broad.mit.edu 37 19 11569323 11569323 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr19:11569323G>T ENST00000359227.3 - 4 861 c.437C>A c.(436-438)tCc>tAc p.S146Y ELAVL3_ENST00000438662.2_Missense_Mutation_p.S146Y NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 146 RRM 2. cell differentiation|nervous system development AU-rich element binding|nucleotide binding p.S146Y(1) breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 GCCGTACTGGGAGAAGAGCTG 0.622000 84 116 2.00703e-41 3.37009e-41 1 1 0 CUBN 8029 broad.mit.edu 37 10 17130324 17130324 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:17130324C>A ENST00000377833.4 - 15 1851 c.1786G>T c.(1786-1788)Ggt>Tgt p.G596C NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 596 CUB 2. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.G596C(2) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCGTAAGGACCAGTCAGGATA 0.423000 14 66 3.52763e-06 4.02791e-06 1 1 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276953 71276953 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:71276953G>T ENST00000398531.1 + 1 345 c.320G>T c.(319-321)tGt>tTt p.C107F KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 107 7 X 4 AA repeats of C-C-X-P. keratin filament p.C107F(1) endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 TGTGGTTCTTGTGGGGGCTCC 0.677000 66 132 1.55521e-42 2.6685e-42 1 1 0 ZNF385D 79750 broad.mit.edu 37 3 21478677 21478677 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:21478677G>T ENST00000281523.2 - 5 976 c.458C>A c.(457-459)cCa>cAa p.P153Q ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 153 Thr-rich. nucleus nucleic acid binding|zinc ion binding p.P153Q(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TGATATTGCTGGTGTCCCTGC 0.418000 19 95 2.4624e-09 2.9399e-09 1 1 0 SLC34A2 10568 broad.mit.edu 37 4 25674768 25674768 + Missense_Mutation SNP A A T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:25674768A>T ENST00000382051.3 + 10 1158 c.1108A>T c.(1108-1110)Ata>Tta p.I370L SLC34A2_ENST00000503434.1_Missense_Mutation_p.I369L|SLC34A2_ENST00000504570.1_Missense_Mutation_p.I369L NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 370 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity p.I370L(1) SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CATCTTGCTCATACTCTCCCT 0.527000 T ROS1 NSCLC 35 146 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106208271 106208271 + RNA SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr14:106208271G>A ENST00000390548.2 - 0 628 GGCTGGGAGGGCTTTGTTGGA 0.617000 118 521 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106810978 106810978 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr8:106810978G>T ENST00000407775.2 + 7 1016 c.766G>T c.(766-768)Ggc>Tgc p.G256C ZFPM2_ENST00000378472.4_5'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G124C|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G124C|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 256 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.G256C(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAAGTCCTGTGGCATCTGGTA 0.473000 37 80 8.73648e-17 1.18244e-16 1 1 0 SLIT3 6586 broad.mit.edu 37 5 168135055 168135055 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:168135055G>T ENST00000519560.1 - 26 3189 c.2770C>A c.(2770-2772)Ccg>Acg p.P924T CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.P924T|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.P931T NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 924 EGF-like 1. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding p.P924T(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCTTGCACGGGCTGGAGAGG 0.602000 10 180 5.16669e-11 6.48936e-11 1 1 0 HRH2 3274 broad.mit.edu 37 5 175111019 175111019 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:175111019G>A ENST00000231683.2 + 1 2556 c.783G>A c.(781-783)ggG>ggA p.G261G HRH2_ENST00000377291.2_Silent_p.G261G NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 261 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) GGCTGAGAGGGGATGATGCCA 0.567000 10 250 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19566042 19566042 + Silent SNP A A G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr14:19566042A>G ENST00000409832.3 + 6 1138 c.1086A>G c.(1084-1086)gaA>gaG p.E362E CTD-2311B13.5_ENST00000548748.1_lincRNA NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 362 p.E362E(1) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 ACTACAAAGAAAAACAGATGC 0.303000 16 299 0 0 1 0 0 TRBV6-8 28599 broad.mit.edu 37 7 142124540 142124540 + RNA SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:142124540G>A ENST00000390376.2 - 0 25 AGAAAAGGCCGCACAGCACAG 0.602000 39 151 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784902 9784902 + Missense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:9784902G>A ENST00000304374.2 + 1 1645 c.1249G>A c.(1249-1251)Gcc>Acc p.A417T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 417 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.A417T(2) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GATGCCCAACGCCGTTACCCC 0.557000 27 128 0 0 1 0 0 RABL3 285282 broad.mit.edu 37 3 120417347 120417347 + Missense_Mutation SNP G G C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:120417347G>C ENST00000273375.3 - 5 486 c.457C>G c.(457-459)Cat>Gat p.H153D RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.H153D NM_173825.3 NP_776186.2 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 153 Small GTPase-like. small GTPase mediated signal transduction GTP binding p.H153D(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) TTTGTTTCATGAATCTGGTCC 0.363000 91 399 0 0 1 0 0 MED1 5469 broad.mit.edu 37 17 37565089 37565089 + Missense_Mutation SNP T T C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:37565089T>C ENST00000300651.6 - 17 3608 c.3385A>G c.(3385-3387)Agc>Ggc p.S1129G MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1129 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.S1129G(1) NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TACATACTGCTACTTAACTTG 0.483000 HNSCC(31;0.082) 12 68 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147130409 147130409 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:147130409C>A ENST00000282928.4 + 2 1816 c.1087C>A c.(1087-1089)Ctt>Att p.L363I NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 363 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L363I(1) central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CAAGCCCTATCTTTGCAAGAT 0.577000 36 170 1.90571e-15 2.53556e-15 1 1 0 FAM13C 220965 broad.mit.edu 37 10 61022292 61022292 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:61022292C>A ENST00000373867.3 - 11 1354 c.889G>T c.(889-891)Ggc>Tgc p.G297C FAM13C_ENST00000435852.2_Missense_Mutation_p.G380C|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000442566.3_Missense_Mutation_p.G401C|FAM13C_ENST00000422313.2_Missense_Mutation_p.G380C|FAM13C_ENST00000277705.6_Missense_Mutation_p.G401C|FAM13C_ENST00000373868.2_Missense_Mutation_p.G380C|FAM13C_ENST00000468840.2_Missense_Mutation_p.G297C NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 380 p.G380C(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GGCTCCGGGCCCGCAGCTTCC 0.552000 46 83 4.62893e-10 5.59033e-10 1 1 0 NLRP5 126206 broad.mit.edu 37 19 56539800 56539800 + Missense_Mutation SNP G G C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr19:56539800G>C ENST00000390649.3 + 7 2201 c.2201G>C c.(2200-2202)cGg>cCg p.R734P NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 734 mitochondrion|nucleolus ATP binding p.R734P(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCGTATTTGCGGAAAATTCGG 0.507000 124 189 0 0 1 0 0 TRBV25-1 28562 broad.mit.edu 37 7 142378621 142378621 + RNA SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:142378621C>A ENST00000390398.3 + 0 50 GACTATCAGGCTCCTCTGCTA 0.468000 13 21 1.5739e-10 1.92297e-10 1 1 0 TRAPPC4 51399 broad.mit.edu 37 11 118889681 118889681 + Splice_Site SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:118889681G>A ENST00000533632.1 + 1 539 c.e1+1 TRAPPC4_ENST00000528230.1_Splice_Site|TRAPPC4_ENST00000434101.2_Splice_Site|TRAPPC4_ENST00000359005.4_Splice_Site|TRAPPC4_ENST00000533058.1_Splice_Site|TRAPPC4_ENST00000525303.1_Splice_Site|MIR3656_ENST00000577421.1_RNA NM_016146.4 NP_057230.1 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) GGCATCCGAGGTGGGCTAGGC 0.627000 5 101 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50192227 50192227 + Silent SNP C C G rs149829026 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr22:50192227C>G ENST00000216267.8 - 4 2250 c.1764G>C c.(1762-1764)gcG>gcC p.A588A BRD1_ENST00000404034.1_Silent_p.A588A|BRD1_ENST00000342989.5_Silent_p.A183A|BRD1_ENST00000542442.1_Silent_p.A281A|BRD1_ENST00000457780.2_Silent_p.A588A|BRD1_ENST00000404760.1_Silent_p.A588A NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 588 Bromo. histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding p.A588A(1)|p.A183A(1) endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCACGGGCTGCGCAAATATCC 0.627000 8 76 0 0 1 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57995329 57995329 + Silent SNP T T C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr12:57995329T>C ENST00000354947.5 + 10 1222 c.1206T>C c.(1204-1206)acT>acC p.T402T PIP4K2C_ENST00000550465.1_Silent_p.T384T|PIP4K2C_ENST00000422156.3_Silent_p.T354T|PIP4K2C_ENST00000540759.2_Silent_p.T402T Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 402 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding p.T402T(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) AGATCTCTACTGTCCATCCGG 0.532000 41 175 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69433722 69433722 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:69433722G>T ENST00000317746.2 - 1 523 c.481C>A c.(481-483)Ctg>Atg p.L161M NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 161 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.L161M(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 AGCTCAGCCAGCAGCTCACCA 0.443000 78 459 1.78623e-52 3.1868e-52 1 1 0 PRUNE2 158471 broad.mit.edu 37 9 79461573 79461573 + Silent SNP T T C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:79461573T>C ENST00000376718.3 - 4 489 c.366A>G c.(364-366)tcA>tcG p.S122S PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.S122S NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 122 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity p.S122S(2) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TGACAACTGCTGATTCTAAAG 0.428000 12 93 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121355331 121355331 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:121355331C>T ENST00000314583.3 - 8 662 c.571G>A c.(571-573)Gcc>Acc p.A191T HCLS1_ENST00000428394.2_Missense_Mutation_p.A154T|HCLS1_ENST00000473883.1_5'UTR NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 191 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity p.A191T(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) AAGCCCTTGGCATAATCTGCA 0.448000 50 108 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118357673 118357673 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:118357673G>T ENST00000528052.1 + 8 880 c.809G>T c.(808-810)tGg>tTg p.W270L PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.W270L|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.W270L P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 270 lipid metabolic process calcium ion binding|triglyceride lipase activity p.W270L(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) GATGGCATCTGGGCGGGTAAA 0.502000 7 29 2.0095e-06 2.30285e-06 1 1 0 NCKAP5 344148 broad.mit.edu 37 2 133540623 133540623 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:133540623G>T ENST00000409261.1 - 14 4134 c.3761C>A c.(3760-3762)tCc>tAc p.S1254Y NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1254Y NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1254 protein binding p.S1254Y(1) NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GGAGGAAAGGGATCTTCTCAT 0.517000 51 195 3.07002e-29 4.7487e-29 1 1 0 TP53 7157 broad.mit.edu 37 17 7577108 7577108 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:7577108C>A ENST00000420246.2 - 8 962 c.830G>T c.(829-831)tGt>tTt p.C277F TP53_ENST00000269305.4_Missense_Mutation_p.C277F|TP53_ENST00000445888.2_Missense_Mutation_p.C277F|TP53_ENST00000359597.4_Missense_Mutation_p.C277F|TP53_ENST00000455263.2_Missense_Mutation_p.C277F|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 277 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) TCTCCCAGGACAGGCACAAAC 0.547000 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) 30 31 3.1745e-13 4.1533e-13 1 1 0 RCOR3 55758 broad.mit.edu 37 1 211449715 211449715 + Missense_Mutation SNP A A T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:211449715A>T ENST00000367005.4 + 4 438 c.297A>T c.(295-297)caA>caT p.Q99H RCOR3_ENST00000452621.2_Missense_Mutation_p.Q157H|RCOR3_ENST00000367006.4_Missense_Mutation_p.Q157H|RCOR3_ENST00000419091.2_Missense_Mutation_p.Q157H NM_018254.3 NP_060724.1 Q9P2K3 RCOR3_HUMAN REST corepressor 3 99 SANT 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.Q99H(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171) TATTTGAACAAGCCTTTAGTT 0.378000 75 292 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55360397 55360397 + Silent SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:55360397C>A ENST00000290552.7 + 2 1527 c.195C>A c.(193-195)ggC>ggA p.G65G RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 65 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G65G(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CGGAGCTGGGCGCCGCCTTGG 0.662000 3 44 0.004672 0.00484161 1 1 0 LINC01098 285501 broad.mit.edu 37 4 178897064 178897064 + Silent SNP T T A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:178897064T>A ENST00000507870.1 + 5 729 c.267T>A c.(265-267)tcT>tcA p.S89S p.S89S(2) lung(8)|prostate(1) 9 AGAATGTGTCTGATTCTCTGA 0.388000 41 236 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17624952 17624952 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:17624952G>A ENST00000262077.2 - 20 4013 c.4014C>T c.(4012-4014)ccC>ccT p.P1338P NUP153_ENST00000537253.1_Silent_p.P1369P NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 1338 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding p.P1338P(1) NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) CAAAGCCTGGGGGATTGGGCT 0.522000 37 97 0 0 1 0 0 SLC52A3 113278 broad.mit.edu 37 20 746119 746119 + Silent SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr20:746119C>T ENST00000381944.3 - 2 541 c.300G>A c.(298-300)ctG>ctA p.L100L SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Silent_p.L100L Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 100 sensory perception of sound integral to plasma membrane riboflavin transporter activity p.L100L(1) GGTGGCCGTCCAGCACCCAGG 0.597000 3 15 0 0 1 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3391656 3391656 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:3391656G>T ENST00000324266.5 + 2 457 c.262G>T c.(262-264)Gtg>Ttg p.V88L TRAPPC12_ENST00000382110.2_Missense_Mutation_p.V88L NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 88 binding CCTGGGCCGAGTGCGGGACGA 0.711000 10 13 1.33987e-11 1.71722e-11 1 1 0 PCDHGA7 56108 broad.mit.edu 37 5 140764252 140764252 + Missense_Mutation SNP A A G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:140764252A>G ENST00000518325.1 + 1 1786 c.1786A>G c.(1786-1788)Aaa>Gaa p.K596E PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGTGGACAAAGATTCAGG 0.647000 5 218 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148048526 148048526 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:148048526G>A ENST00000370460.2 + 14 3599 c.3120G>A c.(3118-3120)ctG>ctA p.L1040L AFF2_ENST00000342251.3_Silent_p.L1007L|AFF2_ENST00000370457.5_Silent_p.L1005L|AFF2_ENST00000286437.5_Silent_p.L681L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1040 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.L1040L(2)|p.L681L(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GCAGTCACCTGGAGATGACGT 0.542000 29 299 0 0 1 0 0 IFNA8 3445 broad.mit.edu 37 9 21409376 21409376 + Silent SNP T T C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:21409376T>C ENST00000380205.1 + 1 231 c.201T>C c.(199-201)gaT>gaC p.D67D NM_002170.3 NP_002161.2 P32881 IFNA8_HUMAN interferon, alpha 8 67 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding p.D67D(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) AGGAGTTTGATGATAAACAGT 0.493000 64 141 0 0 1 0 0 FAM91A1 157769 broad.mit.edu 37 8 124810464 124810464 + Missense_Mutation SNP A A T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr8:124810464A>T ENST00000334705.7 + 16 1792 c.1546A>T c.(1546-1548)Agc>Tgc p.S516C FAM91A1_ENST00000521166.1_Missense_Mutation_p.S516C NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 516 p.S516C(1) breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) GCCTGTCAGCAGCTGCACCCC 0.463000 37 125 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19181197 19181197 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:19181197C>A ENST00000375371.3 - 3 788 c.767G>T c.(766-768)cGc>cTc p.R256L RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 256 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGTCACCAGGCGCTGGCGCTC 0.637000 9 55 2.17888e-05 2.43476e-05 1 1 0 PRUNE2 158471 broad.mit.edu 37 9 79461594 79461594 + Splice_Site SNP A A G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:79461594A>G ENST00000376718.3 - 4 468 c.344_splice c.e4-1 p.S115_splice PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Splice_Site_p.S115_splice NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 115 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity p.S115S(2) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TTTTGTCTTCACTGTAAAGCA 0.433000 10 81 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70964340 70964340 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr8:70964340G>T ENST00000276594.2 - 8 1889 c.1688C>A c.(1687-1689)tCc>tAc p.S563Y NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 563 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S563Y(1) NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) CTTCATGTGGGAGTAGAATGT 0.517000 18 127 4.63292e-17 6.35257e-17 1 1 0 BIVM-ERCC5 100533467 broad.mit.edu 37 13 103460022 103460022 + Nonsense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr13:103460022C>T ENST00000602836.1 + 1 319 c.319C>T c.(319-321)Caa>Taa p.Q107* BIVM_ENST00000257336.1_Silent_p.G135G|BIVM_ENST00000448849.2_Intron|BIVM_ENST00000419638.1_Silent_p.G135G NM_001204425.1 NP_001191354.1 Q59FZ7 Q59FZ7_HUMAN 0 nucleotide-excision repair nucleus endonuclease activity|single-stranded DNA binding p.G135G(1) ACAGCCTGGGCAAGCTACCTC 0.393000 8 86 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27710904 27710904 + Missense_Mutation SNP A A T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:27710904A>T ENST00000261588.4 + 10 1182 c.1163A>T c.(1162-1164)aAg>aTg p.K388M CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 388 p.K388M(2) breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CTGGAGGAGAAGGAAGAGACC 0.522000 25 88 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154147302 154147302 + Missense_Mutation SNP A A T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:154147302A>T ENST00000389740.2 - 1 202 c.103T>A c.(103-105)Tat>Aat p.Y35N NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 35 integral to membrane|plasma membrane G-protein coupled receptor activity p.Y35N(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CAAAAAAGATAGATATTCAGG 0.393000 21 143 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240979707 240979707 + Silent SNP A A G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:240979707A>G ENST00000366565.1 - 11 1074 c.693T>C c.(691-693)taT>taC p.Y231Y RGS7_ENST00000401882.1_Silent_p.Y178Y|RGS7_ENST00000348120.2_Silent_p.Y178Y|RGS7_ENST00000331110.7_Silent_p.Y205Y|RGS7_ENST00000446183.2_Silent_p.Y147Y|RGS7_ENST00000407727.1_Silent_p.Y231Y|RGS7_ENST00000366564.1_Silent_p.Y231Y|RGS7_ENST00000366562.4_Silent_p.Y231Y|RGS7_ENST00000366563.1_Silent_p.Y231Y NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 231 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.Y231Y(2) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTTGTAAACCATAGACAGACt 0.338000 81 184 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135482182 135482182 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:135482182G>T ENST00000394143.1 + 21 8773 c.8482G>T c.(8482-8484)Ggc>Tgc p.G2828C GPR112_ENST00000412101.1_Missense_Mutation_p.G2623C|GPR112_ENST00000394141.1_Missense_Mutation_p.G2623C|GPR112_ENST00000370652.1_Missense_Mutation_p.G2828C|GPR112_ENST00000287534.4_Missense_Mutation_p.G2581C NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2828 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.G2828C(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TACTTGGATGGGCCTGGAGGC 0.388000 75 71 2.08929e-35 3.38163e-35 1 1 0 IGKV3-11 28914 broad.mit.edu 37 2 89326897 89326897 + RNA SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:89326897G>T ENST00000483158.1 - 0 162 GGAGAGGGTGGCTCTTTCCCC 0.512000 28 282 4.09106e-26 6.08812e-26 1 1 0 UGT3A1 133688 broad.mit.edu 37 5 35954564 35954564 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:35954564C>A ENST00000274278.3 - 7 1669 c.1312G>T c.(1312-1314)Gtg>Ttg p.V438L NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 438 integral to membrane glucuronosyltransferase activity p.V438L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTGGCTGCCACCACTGCCGAC 0.587000 43 65 2.00842e-17 2.79046e-17 1 1 0 IGF2BP1 10642 broad.mit.edu 37 17 47075134 47075134 + Silent SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:47075134C>T ENST00000290341.3 + 1 361 c.27C>T c.(25-27)ctC>ctT p.L9L IGF2BP1_ENST00000431824.2_Silent_p.L9L|IGF2BP1_ENST00000515586.1_3'UTR NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 9 RRM 1. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity p.L9L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCGGCAACCTCAACGAGAGCG 0.642000 38 177 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78400364 78400364 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr12:78400364C>A ENST00000397909.2 + 8 1219 c.1046C>A c.(1045-1047)aCt>aAt p.T349N NAV3_ENST00000266692.7_Missense_Mutation_p.T349N|NAV3_ENST00000536525.2_Missense_Mutation_p.T349N|NAV3_ENST00000228327.6_Missense_Mutation_p.T349N Q8IVL0 NAV3_HUMAN neuron navigator 3 349 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.T349N(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACCATGTTGACTGTAAAGCAG 0.557000 HNSCC(70;0.22) 55 88 1.27334e-21 1.79295e-21 1 1 0 PRKAG2 51422 broad.mit.edu 37 7 151478496 151478496 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:151478496C>A ENST00000287878.4 - 3 712 c.208G>T c.(208-210)Ggc>Tgc p.G70C PRKAG2_ENST00000392801.2_Missense_Mutation_p.G26C|PRKAG2_ENST00000461529.1_5'UTR NM_016203.3 NP_057287.2 Q9UGJ0 AAKG2_HUMAN protein kinase, AMP-activated, gamma 2 non-catalytic subunit 70 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding p.G70C(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) GAGGGGCTGCCCGGGCCGAAG 0.627000 12 24 1.49906e-05 1.69929e-05 1 1 0 HAND2 9464 broad.mit.edu 37 4 174450016 174450016 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:174450016C>T ENST00000359562.4 - 1 1364 c.425G>A c.(424-426)cGc>cAc p.R142H HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2_ENST00000505300.1_5'UTR NM_021973.2 NP_068808.1 P61296 HAND2_HUMAN heart and neural crest derivatives expressed 2 142 Helix-loop-helix motif. adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity p.R142H(1) endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 13 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) GGTGGCCAGGCGCAGGGTCTT 0.612000 19 205 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 18 39 0.00887093 0.00916274 1 1 0 DPP6 1804 broad.mit.edu 37 7 154263946 154263946 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:154263946G>T ENST00000404039.1 + 5 967 c.380G>T c.(379-381)aGa>aTa p.R127I DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Missense_Mutation_p.R191I|DPP6_ENST00000332007.3_Missense_Mutation_p.R129I|DPP6_ENST00000427557.1_Missense_Mutation_p.R129I|DPP6_ENST00000406326.1_Missense_Mutation_p.R191I NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 191 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity p.R191I(2)|p.R129I(1)|p.R127I(1) 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) AGAGCCATCAGATATGAAATA 0.294000 4 58 0.000602214 0.000630318 1 1 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 60 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559207 140559207 + Missense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:140559207G>A ENST00000239444.2 + 1 1837 c.1592G>A c.(1591-1593)cGg>cAg p.R531Q NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 531 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R531Q(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCGAGTTCCGGGTGGGCGCT 0.672000 90 648 0 0 1 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140889 143140889 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:143140889G>T ENST00000332690.1 + 1 344 c.344G>T c.(343-345)aGt>aTt p.S115I EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 115 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity p.S115I(1) breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) ACCTGGCTCAGTGTCTTCTAT 0.498000 55 299 3.37043e-27 5.11263e-27 1 1 0 RET 5979 broad.mit.edu 37 10 43602005 43602005 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:43602005C>A ENST00000355710.3 + 5 1281 c.1049C>A c.(1048-1050)aCc>aAc p.T350N RET_ENST00000340058.5_Missense_Mutation_p.T350N NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 350 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.T350N(1) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GTGCGGGCGACCGTACATGAC 0.642000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 7 49 2.0095e-06 2.30285e-06 1 1 0 HIST1H1E 3008 broad.mit.edu 37 6 26156797 26156797 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:26156797C>A ENST00000304218.3 + 1 239 c.179C>A c.(178-180)gCc>gAc p.A60D NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 60 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.A60D(1) NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 GTATCTTTGGCCGCTCTCAAG 0.617000 19 98 9.7654e-05 0.000107215 1 1 0 MKI67 4288 broad.mit.edu 37 10 129901424 129901424 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:129901424C>A ENST00000368654.3 - 13 9055 c.8680G>T c.(8680-8682)Gac>Tac p.D2894Y MKI67_ENST00000368653.3_Missense_Mutation_p.D2534Y NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2894 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding p.D2894Y(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCTTCTGCGTCCAGCTTCCGC 0.547000 40 214 3.68427e-32 5.84273e-32 1 1 0 CROCCP2 84809 broad.mit.edu 37 1 16953697 16953697 + RNA SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:16953697C>A ENST00000412962.1 - 0 564 CCCGTTGCAGCGTGGCGCGGC 0.632000 12 123 4.3838e-07 5.0982e-07 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55626616 55626616 + Splice_Site SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:55626616G>T ENST00000373965.2 - 28 3918 c.3522_splice c.e28-1 p.A1175_splice PCDH15_ENST00000395430.1_Splice_Site_p.A1168_splice|PCDH15_ENST00000361849.3_Splice_Site_p.A1168_splice|PCDH15_ENST00000437009.1_Splice_Site_p.A1097_splice|PCDH15_ENST00000395432.2_Splice_Site_p.A1131_splice|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Splice_Site_p.A779_splice|PCDH15_ENST00000395438.1_Splice_Site_p.A1168_splice|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Splice_Site_p.A1175_splice|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Splice_Site_p.A1173_splice|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Splice_Site_p.A1146_splice|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Splice_Site_p.A1168_splice NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1168 Cadherin 11. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.A1168D(2)|p.A1173D(2) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTTATCAGTAGCCTAGACGGA 0.343000 HNSCC(58;0.16) 65 113 1.34159e-35 2.1827e-35 1 1 0 PLLP 51090 broad.mit.edu 37 16 57318396 57318396 + Silent SNP G G C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:57318396G>C ENST00000219207.5 - 1 203 c.57C>G c.(55-57)gcC>gcG p.A19A PLLP_ENST00000569059.1_Silent_p.A19A NM_015993.2 NP_057077.1 Q9Y342 PLLP_HUMAN plasmolipin 19 integral to membrane ion channel activity endometrium(1)|prostate(1) 2 CCGAGGCTTCGGCGCCCTGCG 0.736000 3 18 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48689456 48689456 + Missense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:48689456G>A ENST00000544264.1 - 12 6057 c.5777C>T c.(5776-5778)tCt>tTt p.S1926F CELSR3_ENST00000164024.4_Missense_Mutation_p.S1926F Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1926 Laminin G-like 2. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding p.S1926F(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CGGGGAGCCAGAGGGTGTGGA 0.657000 8 34 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17603314 17603314 + Missense_Mutation SNP T T C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:17603314T>C ENST00000375460.3 + 13 1538 c.1498T>C c.(1498-1500)Ttc>Ctc p.F500L NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 500 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity p.F500L(1) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CTTCAAGCTCTTCCAGGAAAA 0.642000 14 28 0 0 1 0 0 KAT7 11143 broad.mit.edu 37 17 47904793 47904793 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:47904793G>T ENST00000503935.2 + 15 2333 c.1297G>T c.(1297-1299)Gcc>Tcc p.A433S KAT7_ENST00000454930.2_Missense_Mutation_p.A450S|KAT7_ENST00000435742.2_Missense_Mutation_p.A403S|KAT7_ENST00000259021.4_Missense_Mutation_p.A589S|KAT7_ENST00000510819.1_Missense_Mutation_p.A420S|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.A559S|KAT7_ENST00000509773.1_Missense_Mutation_p.A479S O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 589 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A589S(2) AGCCAAAGAGGCCAAAAGGTC 0.453000 22 78 2.32416e-17 3.21491e-17 1 1 0 PSG7 5676 broad.mit.edu 37 19 43441198 43441198 + RNA SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr19:43441198G>T ENST00000446844.3 - 0 120 PSG7_ENST00000406070.2_RNA|PSG7_ENST00000471557.1_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GTTATATGCTGTGTGCAGGGA 0.572000 79 135 3.37217e-29 5.19049e-29 1 1 0 DCHS2 54798 broad.mit.edu 37 4 155249289 155249289 + Missense_Mutation SNP G G T rs111557030 byFrequency TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:155249289G>T ENST00000357232.3 - 12 2608 c.2609C>A c.(2608-2610)cCt>cAt p.P870H DCHS2_ENST00000339452.1_Missense_Mutation_p.P1325H NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 870 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P870H(1)|p.P1325H(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCCTTCATCAGGATCCTTTGC 0.348000 62 163 1.12612e-26 1.68381e-26 1 1 0 CYBB 1536 broad.mit.edu 37 X 37663315 37663315 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:37663315G>T ENST00000378588.4 + 9 1150 c.1083G>T c.(1081-1083)tgG>tgT p.W361C CYBB_ENST00000536160.1_Missense_Mutation_p.W94C|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.W329C|CYBB_ENST00000492288.1_3'UTR NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 361 FAD-binding FR-type. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity p.W361C(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 TTGGGGACTGGACAGAGGGGC 0.473000 8 69 1.58986e-06 1.83536e-06 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139380184 139380184 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr8:139380184G>T ENST00000395297.1 - 2 213 c.43C>A c.(43-45)Cat>Aat p.H15N NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 15 p.H15N(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TAAAATTTATGTAGCTCTACC 0.363000 HNSCC(54;0.14) 77 174 5.92634e-42 1.00588e-41 1 1 0 WHSC1 7468 broad.mit.edu 37 4 1902791 1902791 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:1902791C>T ENST00000503128.1 + 2 617 c.410C>T c.(409-411)cCt>cTt p.P137L WHSC1_ENST00000382892.2_Missense_Mutation_p.P137L|WHSC1_ENST00000382895.3_Missense_Mutation_p.P137L|WHSC1_ENST00000398261.1_Missense_Mutation_p.P137L|WHSC1_ENST00000382891.5_Missense_Mutation_p.P137L|WHSC1_ENST00000514045.1_Missense_Mutation_p.P137L|WHSC1_ENST00000508803.1_Missense_Mutation_p.P137L|WHSC1_ENST00000436793.1_Missense_Mutation_p.P137L|WHSC1_ENST00000420906.2_Missense_Mutation_p.P137L O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 137 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.P137L(2) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) AATGGGAAGCCTCTCTTTGAA 0.428000 T IGH@ MM 17 98 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901330 51901330 + Silent SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:51901330C>T ENST00000268919.4 + 1 1092 c.936C>T c.(934-936)acC>acT p.T312T NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 312 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.T312T(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AGACGTACACCATGGGTGGAG 0.542000 58 93 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|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, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) 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) tgctgctgctactgctgctgc 0.532000 T MLL ALL 8 81 0 0 1 0 0 C19orf35 374872 broad.mit.edu 37 19 2276472 2276472 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr19:2276472G>T ENST00000342063.3 - 4 722 c.629C>A c.(628-630)gCg>gAg p.A210E NM_198532.2 NP_940934.1 Q6ZS72 CS035_HUMAN chromosome 19 open reading frame 35 210 p.A210E(1) large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCACGTCCGCCCCGGGCTT 0.706000 9 9 6.40141e-05 7.05278e-05 1 1 0 TRPC4 7223 broad.mit.edu 37 13 38225510 38225510 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr13:38225510G>A ENST00000379705.3 - 8 2828 c.1971C>T c.(1969-1971)ttC>ttT p.F657F TRPC4_ENST00000379679.1_Silent_p.F484F|TRPC4_ENST00000379681.3_Silent_p.F657F|TRPC4_ENST00000447043.1_Silent_p.F657F|TRPC4_ENST00000338947.5_Silent_p.F484F|TRPC4_ENST00000358477.2_Silent_p.F657F|TRPC4_ENST00000355779.2_Silent_p.F657F|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000426868.2_3'UTR Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 657 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.F657F(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GGATGACATTGAAGGGAGTAG 0.433000 36 127 0 0 1 0 0 INPP4B 8821 broad.mit.edu 37 4 143033741 143033741 + Missense_Mutation SNP C C G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:143033741C>G ENST00000513000.1 - 23 2663 c.2230G>C c.(2230-2232)Gta>Cta p.V744L INPP4B_ENST00000509777.1_Missense_Mutation_p.V744L|INPP4B_ENST00000308502.4_Missense_Mutation_p.V744L|INPP4B_ENST00000262992.4_Missense_Mutation_p.V744L|INPP4B_ENST00000508116.1_Missense_Mutation_p.V744L NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 744 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity p.V744L(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) TTAAAAAGTACTGGATACACA 0.393000 39 170 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798578 55798578 + Silent SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:55798578C>A ENST00000313555.1 + 1 684 c.684C>A c.(682-684)atC>atA p.I228I NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I228I(1) endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TGTTGAGCATCAAGTCCTCAG 0.448000 96 229 7.0627e-44 1.23205e-43 1 1 0 DEFA6 1671 broad.mit.edu 37 8 6782358 6782358 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr8:6782358G>T ENST00000297436.2 - 2 325 c.285C>A c.(283-285)caC>caA p.H95Q NM_001926.3 NP_001917.1 Q01524 DEF6_HUMAN defensin, alpha 6, Paneth cell-specific 95 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space p.H95Q(1) lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) AGCAGAATCTGTGGTTAATAC 0.433000 7 85 1.26484e-09 1.51588e-09 1 1 0 IP6K3 117283 broad.mit.edu 37 6 33696019 33696019 + Missense_Mutation SNP G G C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:33696019G>C ENST00000451316.1 - 4 793 c.258C>G c.(256-258)aaC>aaG p.N86K IP6K3_ENST00000293756.4_Missense_Mutation_p.N86K NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 86 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity p.N86K(1) skin(1) 1 CCTTCACTGGGTTGGCAACCA 0.612000 27 83 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100675218 100675218 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:100675218C>T ENST00000306151.4 + 3 585 c.521C>T c.(520-522)gCc>gTc p.A174V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 174 Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.A174V(1) 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) AGTTTTGAGGCCTACACATCT 0.468000 34 351 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91134201 91134201 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:91134201C>A ENST00000373094.1 + 2 3807 c.2962C>A c.(2962-2964)Ccc>Acc p.P988T PCDH11X_ENST00000395337.2_Missense_Mutation_p.P988T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P988T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P988T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P988T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P988T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P988T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P988T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P988T NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 988 homophilic cell adhesion integral to plasma membrane calcium ion binding p.P988T(3) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CAGTTCAGATCCCTACAGCGT 0.493000 98 99 2.65435e-51 4.70885e-51 1 1 0 PDE1A 5136 broad.mit.edu 37 2 183095827 183095827 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:183095827G>T ENST00000435564.1 - 5 697 c.497C>A c.(496-498)gCc>gAc p.A166D PDE1A_ENST00000456212.1_Missense_Mutation_p.A166D|PDE1A_ENST00000410103.1_Missense_Mutation_p.A166D|PDE1A_ENST00000409365.1_Missense_Mutation_p.A150D|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.A132D|PDE1A_ENST00000536095.1_Missense_Mutation_p.A62D|PDE1A_ENST00000331935.6_Missense_Mutation_p.A166D|PDE1A_ENST00000351439.5_Missense_Mutation_p.A150D|PDE1A_ENST00000358139.2_Missense_Mutation_p.A166D NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 166 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.A166D(2) endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TTCATTTAGGGCAAATACATC 0.328000 52 189 1.51926e-22 2.15858e-22 1 1 0 CUL1 8454 broad.mit.edu 37 7 148463701 148463701 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:148463701C>T ENST00000325222.4 + 8 1117 c.838C>T c.(838-840)Cat>Tat p.H280Y CUL1_ENST00000602748.1_Missense_Mutation_p.H280Y|CUL1_ENST00000409469.1_Missense_Mutation_p.H280Y NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 280 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding p.H280Y(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GGTTTACCTTCATGAAAGCAC 0.373000 8 131 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158747139 158747139 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:158747139C>A ENST00000339258.1 - 1 286 c.287G>T c.(286-288)gGa>gTa p.G96V NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G96V(1) endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) AAGGAGGCATCCTGCAAAAGA 0.458000 113 230 2.66069e-56 4.77403e-56 1 1 0 IGKV3D-11 28876 broad.mit.edu 37 2 90212024 90212024 + RNA SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:90212024C>A ENST00000390277.2 + 0 213 GGGGAAAGAGCCACCCTCTCC 0.522000 54 139 1.68737e-39 2.79842e-39 1 1 0 RYR2 6262 broad.mit.edu 37 1 237777623 237777623 + Missense_Mutation SNP A A G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:237777623A>G ENST00000366574.2 + 37 5512 c.5195A>G c.(5194-5196)gAg>gGg p.E1732G RYR2_ENST00000542537.1_Missense_Mutation_p.E1716G|RYR2_ENST00000360064.6_Missense_Mutation_p.E1730G NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1732 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.E1730G(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGACGGAGGAGACGAAGAGC 0.552000 4 76 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|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, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) 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) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 88 0 0 1 0 0 CATSPER4 378807 broad.mit.edu 37 1 26524847 26524847 + Missense_Mutation SNP C C T rs149779483 byFrequency TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:26524847C>T ENST00000456354.2 + 6 816 c.749C>T c.(748-750)gCg>gTg p.A250V NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 250 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity p.A250V(1) NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) ATACAGGTTGCGCTGTACACC 0.532000 23 459 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45938491 45938491 + Silent SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:45938491C>T ENST00000374391.2 + 10 1331 c.1278C>T c.(1276-1278)aaC>aaT p.N426N ALOX5_ENST00000542434.1_Silent_p.N426N|ALOX5_ENST00000493336.1_3'UTR NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 426 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TCCAGGCCAACGCCACAGGGG 0.667000 9 176 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062055 194062055 + Silent SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:194062055C>T ENST00000323830.3 - 2 1466 c.1377G>A c.(1375-1377)ccG>ccA p.P459P CPN2_ENST00000429275.1_Silent_p.P459P NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 459 protein stabilization extracellular region enzyme regulator activity p.P459P(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) TGCTTTCGTCCGGCCACGTGA 0.662000 23 228 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 210970995 210970995 + Silent SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:210970995G>T ENST00000367007.4 - 9 1858 c.1689C>A c.(1687-1689)ctC>ctA p.L563L KCNH1_ENST00000271751.4_Silent_p.L590L NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 590 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity p.L590L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CCAGTGCCCGGAGGCAGCCAT 0.612000 57 116 1.95512e-22 2.76535e-22 1 1 0 ZDHHC11 79844 broad.mit.edu 37 5 850513 850513 + Nonsense_Mutation SNP T T A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:850513T>A ENST00000283441.8 - 1 588 c.205A>T c.(205-207)Aaa>Taa p.K69* ZDHHC11_ENST00000424784.2_Nonsense_Mutation_p.K69* NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 69 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GCAATGTATTTCCACGCGTGA 0.582000 6 168 0 0 1 0 0 SMPD3 55512 broad.mit.edu 37 16 68405509 68405509 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:68405509G>A ENST00000219334.5 - 3 1179 c.576C>T c.(574-576)ggC>ggT p.G192G SMPD3_ENST00000563226.1_Silent_p.G192G|SMPD3_ENST00000568373.1_Silent_p.G192G NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 192 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) CCCCATCGCCGCCCTGTGGTG 0.657000 4 65 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9457374 9457374 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr20:9457374C>A ENST00000378501.2 + 35 3485 c.3470C>A c.(3469-3471)tCc>tAc p.S1157Y PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Intron|PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000334005.3_Missense_Mutation_p.S1157Y|PLCB4_ENST00000278655.4_Intron|PLCB4_ENST00000414679.2_Intron NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 490 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.S1157Y(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CTTTTGAAATCCTGTCATGCA 0.368000 33 33 2.19358e-23 3.15956e-23 1 1 0 HMCN1 83872 broad.mit.edu 37 1 186121913 186121913 + Silent SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:186121913G>T ENST00000271588.4 + 96 15157 c.14928G>T c.(14926-14928)cgG>cgT p.R4976R HMCN1_ENST00000367492.2_Silent_p.R4976R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4976 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding p.R4976R(1)|p.R4976>?(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATATTGCCCGGGGCTTGGATT 0.428000 84 208 1.13884e-41 1.92256e-41 1 1 0 UNC80 285175 broad.mit.edu 37 2 210642106 210642106 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:210642106G>T ENST00000439458.1 + 4 503 c.423G>T c.(421-423)tgG>tgT p.W141C UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.W141C NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 141 integral to membrane p.W141C(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 GCTCCAGCTGGGGTGGAAGCA 0.552000 41 114 2.40579e-17 3.31324e-17 1 1 0 MYOM3 127294 broad.mit.edu 37 1 24434529 24434529 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:24434529C>T ENST00000330966.7 - 3 361 c.199G>A c.(199-201)Gcc>Acc p.A67T MYOM3_ENST00000329601.7_Missense_Mutation_p.A66T|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.A66T Q5VTT5 MYOM3_HUMAN myomesin 3 66 p.A66T(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GCTGCCAGGGCGTAGTCCGCG 0.632000 47 111 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72134055 72134055 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr13:72134055G>A ENST00000305425.4 - 5 1760 c.1338C>T c.(1336-1338)ccC>ccT p.P446P DACH1_ENST00000359684.2_Silent_p.P498P|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 496 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding p.P446P(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CCTCCAGAGAGGGGGCAGGTG 0.542000 25 22 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135556 55135556 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:55135556C>T ENST00000314706.3 + 1 197 c.197C>T c.(196-198)aCg>aTg p.T66M NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T66M(2) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TACATGGTGACGATAATGGGC 0.423000 36 144 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 179986618 179986618 + Missense_Mutation SNP G G C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:179986618G>C ENST00000428443.3 - 13 1637 c.1321C>G c.(1321-1323)Ctc>Gtc p.L441V NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 441 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding p.L441V(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) TGATCCAGGAGACCTTGACCT 0.418000 36 141 0 0 1 0 0 GLIPR1 11010 broad.mit.edu 37 12 75875665 75875665 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr12:75875665C>A ENST00000266659.3 + 2 427 c.226C>A c.(226-228)Cag>Aag p.Q76K NM_006851.2 NP_006842.2 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 76 cellular lipid metabolic process extracellular region|integral to membrane p.Q76K(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 CAGCAATTGCCAGTTTTCACA 0.463000 98 177 6.84326e-50 1.20718e-49 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77764127 77764127 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr8:77764127C>A ENST00000521891.2 + 10 5418 c.4970C>A c.(4969-4971)gCt>gAt p.A1657D ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1631D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1612D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1612D NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1612 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A1657D(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGTTTAGCAGCTGTAAACAGC 0.468000 HNSCC(33;0.089) 23 127 0.000295444 0.000317703 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 141 0 0 1 0 0 PADI4 23569 broad.mit.edu 37 1 17634768 17634768 + Silent SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:17634768C>A ENST00000375448.4 + 1 77 c.51C>A c.(49-51)gcC>gcA p.A17A PADI4_ENST00000375453.1_Silent_p.A17A NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 17 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity p.A17A(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CCACCCATGCCGTGTGTGTGC 0.622000 31 111 8.73648e-17 1.18244e-16 1 1 0 RRAS2 22800 broad.mit.edu 37 11 14316111 14316111 + Missense_Mutation SNP T T C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:14316111T>C ENST00000545643.1 - 4 645 c.332A>G c.(331-333)tAt>tGt p.Y111C RRAS2_ENST00000537760.1_Missense_Mutation_p.Y70C|RRAS2_ENST00000529237.1_Missense_Mutation_p.Y28C|RRAS2_ENST00000532814.1_Missense_Mutation_p.Y28C|RRAS2_ENST00000256196.4_Missense_Mutation_p.Y105C|RRAS2_ENST00000526063.1_Missense_Mutation_p.Y28C|RRAS2_ENST00000414023.2_Missense_Mutation_p.Y28C|RRAS2_ENST00000534746.1_Missense_Mutation_p.Y28C NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 105 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding p.Y105C(1) breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) TTGAAACTTATAGATTTCTTC 0.308000 15 58 0 0 1 0 0 OR5B17 219965 broad.mit.edu 37 11 58125640 58125640 + Silent SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:58125640C>T ENST00000357377.3 - 1 902 c.903G>A c.(901-903)aaG>aaA p.K301K NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K301K(1) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCTCAACAACCTTCATGAATG 0.348000 58 152 0 0 1 0 0 TXLNG 55787 broad.mit.edu 37 X 16855792 16855792 + Missense_Mutation SNP G G C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:16855792G>C ENST00000380122.5 + 8 1197 c.1136G>C c.(1135-1137)aGa>aCa p.R379T TXLNG_ENST00000398155.4_Missense_Mutation_p.R247T NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 379 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 ACAACCTTCAGACAGGAAATG 0.294000 5 57 0 0 1 0 0 GIPC1 10755 broad.mit.edu 37 19 14591185 14591185 + Missense_Mutation SNP C C A rs147512845 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr19:14591185C>A ENST00000393033.4 - 6 856 c.587G>T c.(586-588)cGg>cTg p.R196L GIPC1_ENST00000393029.3_Missense_Mutation_p.R99L|GIPC1_ENST00000591349.1_Missense_Mutation_p.R99L|GIPC1_ENST00000586027.1_Missense_Mutation_p.R196L|GIPC1_ENST00000393028.1_Missense_Mutation_p.R99L|GIPC1_ENST00000345425.2_Missense_Mutation_p.R196L NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 196 PDZ. endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding p.R196L(1) endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 CTTGAGCAGCCGGGCCACCTC 0.672000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 81 1.85135e-42 3.15937e-42 1 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971140 21971140 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:21971140G>T ENST00000304494.5 - 2 488 c.218C>A c.(217-219)gCc>gAc p.A73D CDKN2A_ENST00000498628.2_Missense_Mutation_p.A22D|CDKN2A_ENST00000578845.2_Missense_Mutation_p.A22D|CDKN2A_ENST00000497750.1_Missense_Mutation_p.A22D|CDKN2A_ENST00000479692.2_Missense_Mutation_p.A22D|CDKN2A_ENST00000361570.3_Silent_p.R128R|CDKN2A_ENST00000530628.2_Silent_p.R87R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.A73D|CDKN2A_ENST00000446177.1_Missense_Mutation_p.A73D|CDKN2A_ENST00000494262.1_Missense_Mutation_p.A22D|CDKN2A_ENST00000579755.1_Silent_p.R87R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.A73D NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 73 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.A73D(2)|p.A73G(1)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.R128R(1)|p.C72fs*71(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GGCGGGGTCGGCGCAGTTGGG 0.711000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 6 12 0.000274275 0.000295953 1 1 0 HMGA2 8091 broad.mit.edu 37 12 66221790 66221790 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr12:66221790G>T ENST00000541363.1 + 2 494 c.121G>T c.(121-123)Ggt>Tgt p.G41C HMGA2_ENST00000393577.3_Missense_Mutation_p.G41C|HMGA2_ENST00000354636.3_Missense_Mutation_p.G41C|HMGA2_ENST00000536545.1_Missense_Mutation_p.G41C|HMGA2_ENST00000425208.2_Missense_Mutation_p.G41C|HMGA2_ENST00000403681.2_Missense_Mutation_p.G41C|HMGA2_ENST00000393578.3_Missense_Mutation_p.G41C P52926 HMGA2_HUMAN high mobility group AT-hook 2 41 cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent chromatin AT DNA binding p.G41C(2) HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2) lung(2) 2 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) GGAACCAACCGGTGAGCCCTC 0.448000 T """ LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT""" """lipoma, leiomyoma, pleiomorphic salivary gland adenoma""" 19 120 3.51602e-12 4.52471e-12 1 1 0 PXDNL 137902 broad.mit.edu 37 8 52384748 52384748 + Splice_Site SNP T T A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr8:52384748T>A ENST00000356297.4 - 8 911 c.812_splice c.e8+1 p.N271_splice PXDNL_ENST00000543296.1_Splice_Site_p.N271_splice NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 271 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.N271Y(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AGTATTTACTTGTTGTGTATC 0.413000 57 105 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15928116 15928116 + Missense_Mutation SNP G G C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:15928116G>C ENST00000504595.1 + 3 726 c.245G>C c.(244-246)gGg>gCg p.G82A FBXL7_ENST00000329673.7_Missense_Mutation_p.G70A|FBXL7_ENST00000510662.1_Missense_Mutation_p.G35A NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 82 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 TCCATCACCGGGGAGACGGTG 0.657000 10 175 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173734827 173734827 + Silent SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:173734827C>A ENST00000506823.1 + 7 1533 c.876C>A c.(874-876)atC>atA p.I292I GALNTL6_ENST00000508122.1_Silent_p.I275I NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 292 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.I292I(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 ACAAAAGAATCCCCATCCCTC 0.562000 41 91 2.47872e-24 3.62009e-24 1 1 0 WT1 7490 broad.mit.edu 37 11 32414287 32414287 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:32414287G>T ENST00000332351.3 - 8 1548 c.1264C>A c.(1264-1266)Cag>Aag p.Q422K WT1_ENST00000379079.2_Missense_Mutation_p.Q210K|WT1_ENST00000448076.3_Missense_Mutation_p.Q422K|WT1_ENST00000530998.1_Missense_Mutation_p.Q193K NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 354 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.Q354K(1)|p.Q210K(1) EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) AAGTCACACTGGTATGGTTTC 0.428000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 20 53 1.01871e-10 1.25935e-10 1 1 0 LAMA3 3909 broad.mit.edu 37 18 21513860 21513860 + Silent SNP T T A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr18:21513860T>A ENST00000313654.9 + 67 9064 c.8823T>A c.(8821-8823)tcT>tcA p.S2941S LAMA3_ENST00000399516.3_Silent_p.S2885S|LAMA3_ENST00000269217.6_Silent_p.S1332S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.S1276S NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2941 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.S1332S(1)|p.S2941S(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTAAAGGTTCTACCAGGTTTA 0.468000 19 107 0 0 1 0 0 CSAG4 100130935 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 8 246 1.61879e-10 1.97016e-10 1 1 0 CLEC16A 23274 broad.mit.edu 37 16 11217633 11217633 + Missense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:11217633G>A ENST00000409790.1 + 21 2533 c.2303G>A c.(2302-2304)cGt>cAt p.R768H CLEC16A_ENST00000409552.3_Missense_Mutation_p.R750H|CLEC16A_ENST00000465491.1_3'UTR NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 768 p.R768H(1)|p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GACGACAGCCGTGCCCTGAAC 0.592000 46 161 0 0 1 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134465353 134465353 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:134465353G>T ENST00000372195.1 - 16 2523 c.2280C>A c.(2278-2280)ttC>ttA p.F760L RAPGEF1_ENST00000372190.3_Missense_Mutation_p.F761L|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.F743L Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 743 N-terminal Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) CAAAGGGAGAGAATTTCTCAT 0.547000 16 88 7.21436e-19 1.0113e-18 1 1 0 OR8U1 219417 broad.mit.edu 37 11 56143843 56143843 + Silent SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:56143843C>A ENST00000302270.1 + 1 744 c.744C>A c.(742-744)gtC>gtA p.V248V NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 p.V248V(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) TGCTGGCAGTCACCATATTCT 0.483000 56 155 2.12129e-23 3.08372e-23 1 1 0 FAT4 79633 broad.mit.edu 37 4 126389833 126389833 + Silent SNP G G C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:126389833G>C ENST00000394329.3 + 11 12079 c.12066G>C c.(12064-12066)cgG>cgC p.R4022R FAT4_ENST00000335110.5_Silent_p.R2285R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4022 Laminin G-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R4022R(1)|p.R3987R(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAGGCGACCGGGCTGAGTTTT 0.408000 20 138 0 0 1 0 0 LHX8 431707 broad.mit.edu 37 1 75609600 75609600 + Missense_Mutation SNP A A T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:75609600A>T ENST00000294638.5 + 7 1345 c.681A>T c.(679-681)agA>agT p.R227S LHX8_ENST00000356261.3_Missense_Mutation_p.R217S NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 227 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R227S(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 CAGCAAAAAGAGCTCGGACCA 0.403000 16 89 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20327355 20327355 + Nonsense_Mutation SNP G G T rs140017290 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:20327355G>T ENST00000302555.5 - 9 1573 c.1424C>A c.(1423-1425)tCa>tAa p.S475* GP2_ENST00000381360.5_Nonsense_Mutation_p.S331*|GP2_ENST00000381362.4_Nonsense_Mutation_p.S478*|GP2_ENST00000341642.5_Nonsense_Mutation_p.S328* P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 478 ZP. anchored to membrane|extracellular region|plasma membrane p.S475*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TTGACTTCTTGAGCAAGACTG 0.478000 42 100 1.48646e-12 1.92078e-12 1 1 0 ESCO1 114799 broad.mit.edu 37 18 19110322 19110322 + Silent SNP A A G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr18:19110322A>G ENST00000269214.5 - 12 3442 c.2505T>C c.(2503-2505)aaT>aaC p.N835N NM_052911.2 NP_443143.2 Q5FWF5 ESCO1_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 1 835 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding p.N835N(1) breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1) 35 TATTCTGTCCATTAATAAAAT 0.398000 20 156 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75596736 75596736 + Missense_Mutation SNP A A G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:75596736A>G ENST00000502798.2 + 11 2261 c.1819A>G c.(1819-1821)Att>Gtt p.I607V RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.I607V NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 607 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.I607V(1) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GATGGACAGAATTGGGCGCTT 0.463000 91 158 0 0 1 0 0 ZNF267 10308 broad.mit.edu 37 16 31926644 31926644 + Silent SNP C C G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:31926644C>G ENST00000300870.10 + 4 1283 c.1074C>G c.(1072-1074)gtC>gtG p.V358V RP11-170L3.8_ENST00000575471.1_RNA NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405.3 Q14586 ZN267_HUMAN zinc finger protein 267 358 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V358V(1) breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 GTGGCAAGGTCTTTAACCTTA 0.358000 83 288 0 0 1 0 0 ADRA1D 146 broad.mit.edu 37 20 4228878 4228878 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr20:4228878C>T ENST00000379453.4 - 1 843 c.727G>A c.(727-729)Gag>Aag p.E243K NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 243 cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity p.E243K(1) endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) CAGAAGCGCTCGTCAGGGGGC 0.677000 3 10 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2966188 2966188 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr8:2966188G>T ENST00000520002.1 - 45 7249 c.6694C>A c.(6694-6696)Caa>Aaa p.Q2232K CSMD1_ENST00000537824.1_Missense_Mutation_p.Q2231K|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q2231K|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q2232K|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q2232K|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q2232K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2232 CUB 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGCAGGACTTGGTTGGTGGAG 0.493000 4 27 0.00024832 0.000268871 1 1 0 TTN 7273 broad.mit.edu 37 2 179614862 179614862 + Missense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:179614862G>A ENST00000360870.5 - 46 12487 c.12265C>T c.(12265-12267)Cca>Tca p.P4089S TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3468 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGAGGAACTGGTGGGTTAGTT 0.433000 7 156 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14964604 14964604 + Missense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:14964604G>A ENST00000285046.5 + 16 3969 c.3859G>A c.(3859-3861)Gac>Aac p.D1287N FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000543601.1_Missense_Mutation_p.D1046N|FGD5_ENST00000476851.1_3'UTR NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1287 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.D1287N(1)|p.D1046N(1) NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GTACCTGAAGGACAGGATGGC 0.612000 9 101 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79351687 79351687 + Silent SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:79351687G>T ENST00000350881.2 + 3 562 c.372G>T c.(370-372)cgG>cgT p.R124R THBS4_ENST00000511733.1_Silent_p.R33R|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 124 TSP N-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity p.R124R(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) ACGGAAGGCGGCACAGGATCC 0.567000 38 241 2.51541e-25 3.70816e-25 1 1 0 MORC3 23515 broad.mit.edu 37 21 37721643 37721643 + Missense_Mutation SNP T T C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr21:37721643T>C ENST00000400485.1 + 9 1116 c.1040T>C c.(1039-1041)aTa>aCa p.I347T MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 347 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding p.I347T(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GTTGGAATTATAGAGTGTAAT 0.313000 18 105 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20449248 20449248 + Silent SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:20449248C>A ENST00000222573.3 + 13 2718 c.2034C>A c.(2032-2034)tcC>tcA p.S678S ITGB8_ENST00000537992.1_Silent_p.S543S NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 678 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity p.S678S(2) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 AATGTTTCTCCAGCCCAAGCT 0.303000 90 279 8.2166e-39 1.34376e-38 1 1 0 DCAF7 10238 broad.mit.edu 37 17 61657205 61657205 + Silent SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:61657205G>T ENST00000310827.4 + 4 646 c.429G>T c.(427-429)acG>acT p.T143T DCAF7_ENST00000431926.1_Silent_p.T143T|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Intron NM_005828.3 NP_005819.3 P61962 DCAF7_HUMAN DDB1 and CUL4 associated factor 7 143 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding p.T143T(1) endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 18 GCATTGATACGACATGCACCA 0.547000 12 92 9.31168e-06 1.05937e-05 1 1 0 VBP1 7411 broad.mit.edu 37 X 154464554 154464554 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:154464554G>A ENST00000286428.5 + 5 546 c.429G>A c.(427-429)ttG>ttA p.L143L VBP1_ENST00000535916.1_Silent_p.L138L|VBP1_ENST00000459836.1_3'UTR NM_003372.5 NP_003363.1 P61758 PFD3_HUMAN von Hippel-Lindau binding protein 1 143 'de novo' posttranslational protein folding nucleus|prefoldin complex unfolded protein binding p.L143L(1) NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTCAGGCATTGTTGGAAAAGA 0.368000 44 141 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41038956 41038956 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:41038956G>T ENST00000399564.4 - 21 2546 c.2096C>A c.(2095-2097)aCa>aAa p.T699K MROH2B_ENST00000506092.2_Missense_Mutation_p.T254K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.T699K(1) CATGACATCTGTCTTGGTCAG 0.433000 49 86 4.78724e-31 7.51597e-31 1 1 0 BTBD11 121551 broad.mit.edu 37 12 107914364 107914364 + Silent SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr12:107914364C>A ENST00000280758.5 + 2 1764 c.1236C>A c.(1234-1236)acC>acA p.T412T BTBD11_ENST00000420571.2_Silent_p.T412T|BTBD11_ENST00000490090.2_Silent_p.T412T NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 412 integral to membrane DNA binding p.T412T(1) 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 AGCTGAGGACCATCGAGCAGT 0.557000 32 177 1.45844e-13 1.9161e-13 1 1 0 LINS 55180 broad.mit.edu 37 15 101114244 101114244 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr15:101114244C>A ENST00000314742.8 - 5 1056 c.834G>T c.(832-834)ttG>ttT p.L278F LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.L278F|LINS_ENST00000560133.1_Missense_Mutation_p.L159F NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 278 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 AAGATGGTTTCAAAAATAAAA 0.398000 7 126 0.00198382 0.00206265 1 1 0 ABCA3 21 broad.mit.edu 37 16 2376065 2376065 + Missense_Mutation SNP C C A rs150902383 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:2376065C>A ENST00000301732.5 - 5 965 c.265G>T c.(265-267)Gct>Tct p.A89S ABCA3_ENST00000567910.1_Missense_Mutation_p.A89S|ABCA3_ENST00000382381.3_Missense_Mutation_p.A89S NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 89 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.A89S(1) breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GTCTTGGCAGCGTCACTGTGA 0.612000 29 98 7.01153e-11 8.73659e-11 1 1 0 OR2Y1 134083 broad.mit.edu 37 5 180167004 180167004 + Missense_Mutation SNP C C G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:180167004C>G ENST00000307832.2 - 1 95 c.55G>C c.(55-57)Gat>Cat p.D19H NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D19H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGCGGCCAATCTGAGAATCCC 0.458000 4 119 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70681814 70681814 + Silent SNP T T A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr13:70681814T>A ENST00000377844.4 - 1 777 c.18A>T c.(16-18)cgA>cgT p.R6R ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 6 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.R6R(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CGAAGTCTTTTCGCCCAGAGC 0.642000 7 40 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38798230 38798230 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:38798230C>A ENST00000449082.2 - 9 1224 c.1225G>T c.(1225-1227)Gat>Tat p.D409Y NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 409 sensory perception voltage-gated sodium channel complex p.D409Y(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCAATTTCATCAGTGGTTGCC 0.493000 53 225 1.83081e-24 2.68633e-24 1 1 0 RUNX1T1 862 broad.mit.edu 37 8 92972678 92972678 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr8:92972678C>A ENST00000523629.1 - 12 2061 c.1607G>T c.(1606-1608)gGc>gTc p.G536V RUNX1T1_ENST00000518844.1_Missense_Mutation_p.G509V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.G499V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.G509V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.G499V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.G499V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.G536V|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.G547V NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 536 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G499V(1)|p.G536V(1)|p.G547V(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GCAAAATGAGCCACAGTATCG 0.537000 15 103 9.16793e-09 1.08223e-08 1 1 0 LUZP2 338645 broad.mit.edu 37 11 24759849 24759849 + Splice_Site SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:24759849G>T ENST00000533227.1 + 4 362 c.e4+1 LUZP2_ENST00000531187.1_Splice_Site|LUZP2_ENST00000336930.6_Splice_Site NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 extracellular region p.?(2) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 CCAGGCTACTGTAAGTGTGTT 0.368000 20 47 4.35082e-09 5.17483e-09 1 1 0 TTN 7273 broad.mit.edu 37 2 179577475 179577475 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:179577475C>T ENST00000589042.1 - 94 27501 c.27277G>A c.(27277-27279)Gtt>Att p.V9093I TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V7849I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V8776I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8776 Ig-like 74. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V7849I(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATTGCTAACTATGCAAGTA 0.393000 43 97 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73053228 73053228 + Silent SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:73053228G>A ENST00000335350.6 + 12 2255 c.1839G>A c.(1837-1839)ctG>ctA p.L613L UNC5B_ENST00000373192.4_Silent_p.L602L NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 613 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane p.L613L(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CAGGCCTCCTGCTGTGCCGCC 0.637000 53 179 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169656275 169656275 + Missense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:169656275G>A ENST00000428432.2 + 9 1711 c.1322G>A c.(1321-1323)cGa>cAa p.R441Q SAMD7_ENST00000335556.3_Missense_Mutation_p.R441Q NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 441 p.R441Q(1) NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) GGAATTGAGCGAGGTAGTATG 0.413000 12 51 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51314846 51314846 + Missense_Mutation SNP T T A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr8:51314846T>A ENST00000522124.1 + 4 765 c.104T>A c.(103-105)aTt>aAt p.I35N SNTG1_ENST00000276467.5_Missense_Mutation_p.I35N|SNTG1_ENST00000518864.1_Missense_Mutation_p.I35N|SNTG1_ENST00000517473.1_Missense_Mutation_p.I35N NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 35 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding p.I35N(2) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GCCAAAGACATTTTGATGATC 0.383000 36 211 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204409332 204409332 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:204409332C>T ENST00000367187.3 - 23 3923 c.3367G>A c.(3367-3369)Ggc>Agc p.G1123S PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G1095S NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 1123 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CTGCCCCGGCCGGTGGAGAAG 0.582000 11 188 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77377632 77377632 + Missense_Mutation SNP T T A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:77377632T>A ENST00000451710.3 - 26 4192 c.3955A>T c.(3955-3957)Agg>Tgg p.R1319W TRPM6_ENST00000376864.4_Missense_Mutation_p.R1319W|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1319W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1314W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1314W Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1319 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.R1319W(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GTTTCTTGCCTTTCCTGGTCA 0.478000 48 290 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3028249 3028249 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:3028249G>T ENST00000381127.1 + 10 1567 c.1346G>T c.(1345-1347)tGt>tTt p.C449F ARSF_ENST00000359361.2_Missense_Mutation_p.C449F|ARSF_ENST00000537104.1_Missense_Mutation_p.C449F NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 449 extracellular region arylsulfatase activity|metal ion binding p.C449F(1) 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) TTCCACTACTGTGGCTCCTAC 0.592000 47 61 1.51926e-22 2.15858e-22 1 1 0 KIF18A 81930 broad.mit.edu 37 11 28116239 28116239 + Missense_Mutation SNP T T C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:28116239T>C ENST00000263181.6 - 3 724 c.434A>G c.(433-435)gAt>gGt p.D145G NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 145 Kinesin-motor. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding p.D145G(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TTTAATCTCATCCATGCATTT 0.383000 45 188 0 0 1 0 0 POU1F1 5449 broad.mit.edu 37 3 87311358 87311358 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:87311358G>T ENST00000350375.2 - 4 591 c.467C>A c.(466-468)gCc>gAc p.A156D POU1F1_ENST00000560656.1_Intron|POU1F1_ENST00000344265.3_Missense_Mutation_p.A182D NM_000306.2 NP_000297.1 P28069 PIT1_HUMAN POU class 1 homeobox 1 156 POU-specific. negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A156D(1)|p.A182D(1) central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2) 18 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) AGCTGCCAGGGCCTCCCCAAC 0.423000 26 134 1.66031e-10 2.01288e-10 1 1 0 ANK2 287 broad.mit.edu 37 4 114279055 114279055 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:114279055C>A ENST00000357077.4 + 38 9334 c.9281C>A c.(9280-9282)cCa>cAa p.P3094Q ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3061Q|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3061 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.P3094Q(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAGGGGACCCCAACAAGTGAG 0.458000 12 96 6.40141e-05 7.05278e-05 1 1 0 MST1 4485 broad.mit.edu 37 3 49723531 49723531 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:49723531G>T ENST00000449682.2 - 9 1472 c.1111C>A c.(1111-1113)Cag>Aag p.Q371K MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 357 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CGCCGGATCTGGTAGCAAAAG 0.682000 3 36 1 1 1 1 0 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr21:44524456G>A ENST00000291552.4 - 2 193 c.101C>T c.(100-102)tCt>tTt p.S34F U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR NM_006758.2 NP_006749.1 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 34 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.S34F(45)|p.S34Y(12) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 GTGCAACCGAGAGCACCTGTC 0.358000 Mis """CLL, MDS""" 19 51 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 15 86 0 0 1 0 0 RNF145 153830 broad.mit.edu 37 5 158595962 158595962 + Missense_Mutation SNP A A C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:158595962A>C ENST00000424310.2 - 8 1399 c.1040T>G c.(1039-1041)tTc>tGc p.F347C RNF145_ENST00000520638.1_Missense_Mutation_p.F361C|RNF145_ENST00000521606.2_Missense_Mutation_p.F364C|RNF145_ENST00000274542.2_Missense_Mutation_p.F375C|RNF145_ENST00000519865.1_Missense_Mutation_p.F347C|RNF145_ENST00000518802.1_Missense_Mutation_p.F377C NM_001199383.1 NP_001186312.1 Q96MT1 RN145_HUMAN ring finger protein 145 347 integral to membrane zinc ion binding p.F375C(1) endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TACGACAATGAAAAGGATAAT 0.428000 11 189 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114111054 114111054 + Missense_Mutation SNP A A C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr8:114111054A>C ENST00000297405.5 - 5 1092 c.848T>G c.(847-849)tTt>tGt p.F283C CSMD3_ENST00000352409.3_Missense_Mutation_p.F283C|CSMD3_ENST00000343508.3_Missense_Mutation_p.F243C|CSMD3_ENST00000455883.2_Missense_Mutation_p.F283C|CSMD3_ENST00000519485.1_5'UTR NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 283 CUB 2. integral to membrane|plasma membrane p.F283C(1)|p.F243C(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAAATCAGTAAATATGAGTGA 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 124 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154169891 154169891 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:154169891C>T ENST00000336314.4 + 2 236 c.212C>T c.(211-213)tCt>tTt p.S71F NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 148 protein binding|RNA binding p.S148F(1)|p.S71F(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ACAGAACACTCTGCTCCAGCC 0.547000 63 143 0 0 1 0 0 SERPINA11 256394 broad.mit.edu 37 14 94915055 94915055 + Nonsense_Mutation SNP A A T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr14:94915055A>T ENST00000334708.3 - 2 121 c.57T>A c.(55-57)tgT>tgA p.C19* RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 19 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.C201*(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) GAAGGGGCTGACAGTGGACAG 0.547000 35 178 0 0 1 0 0 OR56B4 196335 broad.mit.edu 37 11 6129250 6129250 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:6129250C>A ENST00000316529.3 + 1 337 c.242C>A c.(241-243)aCc>aAc p.T81N NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T81N(1) NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCTGGCCACCACCATCATG 0.493000 19 88 3.8784e-16 5.20435e-16 1 1 0 KL 9365 broad.mit.edu 37 13 33635122 33635122 + Missense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr13:33635122G>A ENST00000380099.3 + 4 1914 c.1906G>A c.(1906-1908)Gcc>Acc p.A636T KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 636 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding p.A636T(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CCCAGTGGTGGCCCTGTGGCA 0.632000 18 156 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10426663 10426663 + Missense_Mutation SNP G G C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:10426663G>C ENST00000245503.5 - 38 5923 c.5539C>G c.(5539-5541)Cgc>Ggc p.R1847G MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1847G|CTC-297N7.7_ENST00000399342.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1847 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1847G(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCATGTTTGCGCAGACCTTTG 0.468000 26 133 0 0 1 0 0 SSPN 8082 broad.mit.edu 37 12 26377286 26377286 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr12:26377286C>T ENST00000242729.2 + 2 517 c.340C>T c.(340-342)Cgg>Tgg p.R114W SSPN_ENST00000422622.2_Missense_Mutation_p.R11W|SSPN_ENST00000535504.1_Missense_Mutation_p.R114W|SSPN_ENST00000540266.1_Missense_Mutation_p.R11W|RP11-283G6.4_ENST00000540392.1_RNA NM_005086.4 NP_005077.2 Q14714 SSPN_HUMAN sarcospan 114 cell adhesion|muscle contraction cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle p.R114W(1) kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 Colorectal(261;0.0847) GGTTGACGAACGGACATGTAT 0.378000 24 458 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24582841 24582841 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:24582841C>A ENST00000319715.4 + 18 4886 c.4454C>A c.(4453-4455)tCc>tAc p.S1485Y RBBP6_ENST00000381039.3_Missense_Mutation_p.S645Y|RBBP6_ENST00000348022.2_Missense_Mutation_p.S1451Y NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1485 Interaction with p53 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.S1485Y(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TATTCAAGTTCCAAACGTAGA 0.378000 23 110 1.2476e-16 1.68131e-16 1 1 0 NDUFS1 4719 broad.mit.edu 37 2 206992595 206992595 + Nonsense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:206992595G>A ENST00000233190.5 - 16 2076 c.1810C>T c.(1810-1812)Cag>Tag p.Q604* NDUFS1_ENST00000457011.1_Nonsense_Mutation_p.Q488*|NDUFS1_ENST00000455934.2_Nonsense_Mutation_p.Q618*|NDUFS1_ENST00000449699.1_Nonsense_Mutation_p.Q604*|NDUFS1_ENST00000440274.1_Nonsense_Mutation_p.Q568*|NDUFS1_ENST00000432169.1_Nonsense_Mutation_p.Q493*|NDUFS1_ENST00000423725.1_Nonsense_Mutation_p.Q547* NM_005006.6 NP_004997.4 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) 604 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding p.Q604*(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 NADH(DB00157) TTAGTCTGCTGAGCTCTACCC 0.453000 47 111 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32688372 32688372 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:32688372C>T ENST00000421745.2 + 24 4998 c.4864C>T c.(4864-4866)Cat>Tat p.H1622Y NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1622 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.H1622Y(1)|p.H1594Y(1) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GTCTCTCTCTCATGCAATGGC 0.532000 5 44 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961522 34961522 + Missense_Mutation SNP C C G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chrX:34961522C>G ENST00000329357.5 + 1 610 c.574C>G c.(574-576)Ccc>Gcc p.P192A NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 192 Pro-rich. p.P192A(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCCGCGGCCTCCCGAGACTCC 0.657000 35 22 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41729253 41729253 + Missense_Mutation SNP A A T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:41729253A>T ENST00000242208.4 - 3 1522 c.1276T>A c.(1276-1278)Tca>Aca p.S426T INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S426T NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 426 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CAACTCTATGAGCACCCACAC 0.453000 TSP Lung(11;0.080) 15 146 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23809344 23809344 + Missense_Mutation SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:23809344G>T ENST00000354639.3 + 13 2077 c.1613G>T c.(1612-1614)aGt>aTt p.S538I STK31_ENST00000433467.2_Missense_Mutation_p.S561I|STK31_ENST00000428484.1_Missense_Mutation_p.S538I|STK31_ENST00000355870.3_Missense_Mutation_p.S561I|STK31_ENST00000405627.3_3'UTR NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 561 ATP binding|nucleic acid binding|protein serine/threonine kinase activity p.S561I(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ACTGAGTCAAGTGTCTGCAAA 0.383000 111 287 1.22908e-42 2.13221e-42 1 1 0 OR2L2 26246 broad.mit.edu 37 1 248201977 248201977 + Missense_Mutation SNP C C A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:248201977C>A ENST00000366479.2 + 1 504 c.408C>A c.(406-408)agC>agA p.S136R OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S136R(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCCGTATAAGCAAAAGAGTGT 0.433000 87 257 1.42536e-29 2.21565e-29 1 1 0 ZNF282 8427 broad.mit.edu 37 7 148921264 148921264 + Missense_Mutation SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:148921264G>A ENST00000262085.3 + 8 1646 c.1541G>A c.(1540-1542)cGc>cAc p.R514H ZNF282_ENST00000479907.1_Intron NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 514 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CACGGCGCCCGCAGCAAGCCC 0.751000 6 40 0 0 1 0 0 ARL6IP6 151188 broad.mit.edu 37 2 153575351 153575351 + Silent SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:153575351G>T ENST00000326446.5 + 1 924 c.213G>T c.(211-213)tcG>tcT p.S71S NM_152522.5 NP_689735.1 Q8N6S5 AR6P6_HUMAN ADP-ribosylation-like factor 6 interacting protein 6 71 integral to membrane p.S71S(1) kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 5 GAAAGCGCTCGGTGCTCCCGC 0.701000 4 40 1 1 1 1 0 BCR 613 broad.mit.edu 37 22 23630285 23630285 + Splice_Site SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr22:23630285G>T ENST00000305877.8 + 12 3279 c.2526_splice c.e12-1 p.S843_splice BCR_ENST00000359540.3_Splice_Site_p.S843_splice NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 843 PH. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.S843I(1) BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CCACCCTAGAGTTACACGTTC 0.557000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 27 104 1.7367e-05 1.96159e-05 1 1 0 PDGFRA 5156 broad.mit.edu 37 4 55156545 55156545 + Silent SNP G G C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:55156545G>C ENST00000257290.5 + 22 3277 c.2946G>C c.(2944-2946)gtG>gtC p.V982V FIP1L1_ENST00000507166.1_Silent_p.V742V NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 982 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.V982V(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GCATGCGTGTGGACTCAGACA 0.453000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 40 181 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81641517 81641517 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr7:81641517C>T ENST00000356860.3 - 15 1653 c.1315G>A c.(1315-1317)Gac>Aac p.D439N MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D439N|CACNA2D1_ENST00000464354.1_5'UTR|MIR1255B1_ENST00000454066.1_RNA NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 439 voltage-gated calcium channel complex metal ion binding p.D439N(1) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTAGCTTTGTCTCCTGCTAAA 0.378000 25 95 0 0 1 0 0 MTMR2 8898 broad.mit.edu 37 11 95583771 95583771 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:95583771C>T ENST00000393223.3 - 10 1243 c.581G>A c.(580-582)cGt>cAt p.R194H MTMR2_ENST00000409459.1_Missense_Mutation_p.R194H|MTMR2_ENST00000352297.7_Missense_Mutation_p.R194H|MTMR2_ENST00000346299.5_Missense_Mutation_p.R266H NM_001243571.1|NM_201278.2 NP_001230500.1|NP_958435.1 Q13614 MTMR2_HUMAN myotubularin related protein 2 266 nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R194H(1)|p.R266H(1) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TACTGGGATACGGCCTCTTGA 0.408000 32 164 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292767 102292767 + RNA SNP C C T rs113047734 by1000genomes TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr15:102292767C>T ENST00000561463.1 + 0 813 CACAGCGGCGCGACGAGATGC 0.597000 5 54 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164756867 164756867 + Splice_Site SNP G G A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr3:164756867G>A ENST00000264382.3 - 20 2362 c.2301_splice c.e20+1 p.S767_splice NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 767 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.S767F(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTTACTTACAGATTCATAATC 0.284000 HNSCC(35;0.089) 8 65 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 4 26 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38395944 38395944 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:38395944C>T ENST00000377698.3 + 2 352 c.199C>T c.(199-201)Cac>Tac p.H67Y NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 67 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity p.H67F(1) NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GGTCATTGGGCACGTGGCTGA 0.607000 44 118 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 231 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 9 200 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 7 173 --- --- --- --- REG1P 5969 broad.mit.edu 37 2 79365197 79365198 + RNA INS - - A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:79365197_79365198insA ENST00000444841.1 - 0 60_61 AGCAAATCAGCAATCTCTATAG 0.475 16 24 --- --- --- --- DNAJC10 54431 broad.mit.edu 37 2 183597269 183597269 + Splice_Site DEL G G - TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr2:183597269delG ENST00000264065.6 + 10 1264 c.849_splice c.e10+1 p.L283_splice DNAJC10_ENST00000537515.1_Splice_Site_p.L283_splice NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 283 apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GTGGCATGTTGGTAAGCATCA 0.328 70 208 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 944247 944261 + In_Frame_Del DEL GATTGCCGTCTACCT GATTGCCGTCTACCT - rs142778595 byFrequency TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:944247_944261delGATTGCCGTCTACCT ENST00000264771.4 + 4 416_430 c.231_245delGATTGCCGTCTACCT c.(229-246)cgg>cg p.RIAVYL77del TMEM175_ENST00000508204.1_5'UTR|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_5'UTR NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 77 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) TGGCAACACGGATTGCCGTCTACCTGATGACCTTT 0.581 35 141 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412047 105412049 + In_Frame_Del DEL TCT TCT - TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr4:105412047_105412049delTCT ENST00000394767.2 - 2 1361_1363 c.911_913delAGA c.(910-915)agg>a p.KR306del AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_In_Frame_Del_p.KR137del NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 137 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) CACCTTTTCCTCTTCTTCTTGGC 0.571 26 196 --- --- --- --- HK3 3101 broad.mit.edu 37 5 176315456 176315457 + Frame_Shift_Del DEL CG CG - TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:176315456_176315457delCG ENST00000292432.5 - 10 1271_1272 c.1180_1181delCG c.(1180-1182)gfs p.R394fs NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 394 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGCAGCCCGCGTGCACACG 0.668 5 9 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708697 180708698 + RNA INS - - A rs1815381 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr5:180708697_180708698insA ENST00000412295.2 + 0 238 ggggcggtaggcgggggctgga 0.718 7 10 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157100396 157100397 + In_Frame_Ins INS - - CGC TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr6:157100396_157100397insCGC ENST00000346085.5 + 1 1334_1335 c.1333_1334insCGC c.(1333-1335)gcc>CGCgcc p.444_445insR ARID1B_ENST00000275248.4_In_Frame_Ins_p.386_387insR|ARID1B_ENST00000367148.1_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000350026.5_In_Frame_Ins_p.444_445insR NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 444 Ala-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.P392_S393insP(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAGCCCCAGCGCGCCGCCGCCG 0.787 6 10 --- --- --- --- TLN1 7094 broad.mit.edu 37 9 35707111 35707112 + Frame_Shift_Ins INS - - G TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:35707111_35707112insG ENST00000314888.9 - 37 5265_5266 c.4912_4913insC c.(4912-4914)tacfs p.Y1638fs TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Frame_Shift_Ins_p.Y1638fs NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1638 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGAGACAGTACGGGAGTGGCCG 0.599 32 308 --- --- --- --- ABL1 25 broad.mit.edu 37 9 133759490 133759492 + In_Frame_Del DEL AAG AAG - TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr9:133759490_133759492delAAG ENST00000318560.5 + 11 2194_2196 c.1813_1815delAAG c.(1813-1815)del p.K609del NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 609 Poly-Lys. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CGCCTTGATCAAGAAGAAGAAGA 0.616 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 12 297 --- --- --- --- GDF10 2662 broad.mit.edu 37 10 48438647 48438649 + In_Frame_Del DEL GCA GCA - rs34420310 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:48438647_48438649delGCA ENST00000224605.2 - 1 327_329 c.62_64delTGC c.(61-66)ccg>c p.LP21del NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 21 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 agaaacaacggcagcagcagcag 0.729 14 17 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 10 327 --- --- --- --- OR52R1 119695 broad.mit.edu 37 11 4824745 4824746 + Frame_Shift_Ins INS - - T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr11:4824745_4824746insT ENST00000380382.1 - 1 1101_1102 c.1102_1103insA c.(1102-1104)gctfs p.A368fs MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Frame_Shift_Ins_p.A289fs|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGGTTGAGCATGGGAGGTATC 0.475 63 251 --- --- --- --- DPY19L2 283417 broad.mit.edu 37 12 64055263 64055263 + Splice_Site DEL T T - rs565018 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr12:64055263delT ENST00000324472.4 - 4 634 c.e4-2 RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) ATAAAGTCCCTTTTTTTAAAA 0.259 8 168 --- --- --- --- CFAP54 144535 broad.mit.edu 37 12 97052038 97052063 + Frame_Shift_Del DEL CAGCTTCTGCTGAGAATACAGAAGTT CAGCTTCTGCTGAGAATACAGAAGTT - rs113313001 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr12:97052038_97052063delCAGCTTCTGCTGAGAATACAGAAGTT ENST00000524981.3 + 5 727_752 c.727_752delCAGCTTCTGCTGAGAATACAGAAGTT c.(727-753)cfs p.QLLLRIQKF243fs Q6ZTY8 CL063_HUMAN 217 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TGCACAGCGCCAGCTTCTGCTGAGAATACAGAAGTTCAAGGGCCCA 0.394 10 227 --- --- --- --- DOCK9 23348 broad.mit.edu 37 13 99566606 99566606 + Frame_Shift_Del DEL A A - TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr13:99566606delA ENST00000376460.1 - 9 1016 c.936delT c.(934-936)gafs p.D312fs DOCK9_ENST00000339416.2_Frame_Shift_Del_p.D313fs|DOCK9_ENST00000448493.2_Frame_Shift_Del_p.D324fs|DOCK9_ENST00000442173.1_Frame_Shift_Del_p.D312fs NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 313 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) GCAGGTAGCTATCTAAACCGG 0.383 11 25 --- --- --- --- FAM174B 400451 broad.mit.edu 37 15 93198679 93198684 + In_Frame_Del DEL TGGAGC TGGAGC - rs66488707 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr15:93198679_93198684delTGGAGC ENST00000327355.5 - 1 504_509 c.206_211delGCTCCA c.(205-213)aac>a p.SSN69del NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 69 integral to membrane endometrium(2)|lung(1) 3 CCACTGCTGTTGGAGCTGGAGCTGCC 0.714 19 9 --- --- --- --- KCNG4 93107 broad.mit.edu 37 16 84270538 84270550 + Frame_Shift_Del DEL CTCAGTACGTCCT CTCAGTACGTCCT - TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr16:84270538_84270550delCTCAGTACGTCCT ENST00000568181.1 - 2 662_674 c.542_554delAGGACGTACTGAG c.(541-555)ggfs p.EDVLR181fs KCNG4_ENST00000308251.4_Frame_Shift_Del_p.EDVLR181fs Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 181 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 CCTCTGCTGCCTCAGTACGTCCTCCCTGTGCAG 0.685 14 114 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 8 191 --- --- --- --- MYCBPAP 84073 broad.mit.edu 37 17 48604672 48604673 + Frame_Shift_Ins INS - - ACCACAG TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:48604672_48604673insACCACAG ENST00000323776.5 + 15 2485_2486 c.2323_2324insACCACAG c.(2323-2325)ccafs p.P775fs MYCBPAP_ENST00000436259.2_Frame_Shift_Ins_p.P738fs NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 738 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CCCTGATGAGAACCACAGAGAG 0.574 50 192 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056586 56056587 + In_Frame_Ins INS - - TGT TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:56056586_56056587insTGT ENST00000584396.1 - 5 1125_1126 c.1037_1038insACA c.(1036-1038)cgt>cACAgt p.346_346R>HS VEZF1_ENST00000581208.1_In_Frame_Ins_p.355_355R>HS Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 355 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 AGCTTGTCACAtgttgttgttg 0.475 13 493 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056604 56056605 + In_Frame_Ins INS - - TGC rs61731354 byFrequency TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:56056604_56056605insTGC ENST00000584396.1 - 5 1107_1108 c.1019_1020insGCA c.(1018-1020)cca>cGCAca p.340_340P>RT VEZF1_ENST00000581208.1_In_Frame_Ins_p.349_349P>RT Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 349 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 gttgttgttgttgctgctgctg 0.465 20 413 --- --- --- --- LRRC37A16P 651250 broad.mit.edu 37 17 66141015 66141016 + RNA INS - - A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr17:66141015_66141016insA ENST00000590019.1 - 0 70 CCAAGATTTCTACAAAAAAAAA 0.322 7 85 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8592415a-1d24-4501-99ce-280807917c24 58939308-d13a-40fb-8143-e3d66cb94634 g.chr22:20920814_20920816delCAG ENST00000263205.7 + 7 820_822 c.751_753delCAG c.(751-753)del p.Q262del MED15_ENST00000478831.1_3'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.591 8 88 --- --- --- ---