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 COL14A1 7373 broad.mit.edu 37 8 121290456 121290456 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr8:121290456G>A ENST00000297848.3 + 27 3590 c.3320G>A c.(3319-3321)gGa>gAa p.G1107E COL14A1_ENST00000309791.4_Missense_Mutation_p.G1107E|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1012E NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1107 VWFA 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TCATACAAAGGAGGAAATACA 0.333000 24 45 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25971150 25971150 + Silent SNP G G A rs141485196 TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr15:25971150G>A ENST00000356865.6 - 5 1038 c.927C>T c.(925-927)gaC>gaT p.D309D NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 309 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) ACCAGAGCACGTCGCAGTTCA 0.562000 26 95 0 0 1 0 0 CAPN12 147968 broad.mit.edu 37 19 39234622 39234622 + Nonsense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:39234622G>A ENST00000328867.4 - 1 492 c.184C>T c.(184-186)Cag>Tag p.Q62* CAPN12_ENST00000601953.1_Intron NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 62 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GGCCCCAGCTGGTCATAGCCA 0.632000 5 75 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62376848 62376848 + Nonsense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:62376848C>A ENST00000394773.2 - 6 1043 c.736G>T c.(736-738)Gag>Tag p.E246* EML3_ENST00000494176.2_Nonsense_Mutation_p.E218*|EML3_ENST00000278845.4_Nonsense_Mutation_p.E247*|EML3_ENST00000531557.1_Nonsense_Mutation_p.E29*|EML3_ENST00000529309.1_Nonsense_Mutation_p.E246* NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 246 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CTGAGGGTCTCTGGCGGTGGG 0.582000 73 44 9.98788e-38 1.25443e-37 1 1 0 AFF3 3899 broad.mit.edu 37 2 100210742 100210742 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:100210742C>T ENST00000317233.4 - 14 1616 c.1381G>A c.(1381-1383)Gca>Aca p.A461T AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000409236.1_Missense_Mutation_p.A461T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 461 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.A486T(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TTAGAGGATGCCGGTTCAGCC 0.443000 6 383 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102290593 102290593 + Missense_Mutation SNP A A C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr1:102290593A>C ENST00000370103.4 - 4 794 c.581T>G c.(580-582)aTg>aGg p.M194R OLFM3_ENST00000536598.1_Missense_Mutation_p.M119R|OLFM3_ENST00000338858.5_Missense_Mutation_p.M214R|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.M214R NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 214 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TAGCTTTTTCATGCAGTCACG 0.363000 38 50 0 0 1 0 0 SLC2A6 11182 broad.mit.edu 37 9 136340583 136340583 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr9:136340583C>T ENST00000371899.4 - 5 790 c.713G>A c.(712-714)cGt>cAt p.R238H SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.R238H NM_017585.3 NP_060055.2 Q9UGQ3 GTR6_HUMAN solute carrier family 2 (facilitated glucose transporter), member 6 238 integral to membrane|plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05) GTCCGTCCCACGCAGCCAGGC 0.667000 22 39 0 0 1 0 0 RXFP3 51289 broad.mit.edu 37 5 33937022 33937022 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr5:33937022C>T ENST00000330120.3 + 1 532 c.177C>T c.(175-177)ggC>ggT p.G59G NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 59 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 TGCCGGACGGCGCGCCGCCAG 0.697000 11 104 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125528044 125528044 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr10:125528044C>T ENST00000241305.3 - 9 1451 c.1297G>A c.(1297-1299)Ggg>Agg p.G433R CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 433 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GCCATTACCCCTTCGTAGGCC 0.612000 23 41 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40317350 40317350 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:40317350C>T ENST00000593685.1 - 9 1841 c.1373G>A c.(1372-1374)tGc>tAc p.C458Y DYRK1B_ENST00000323039.5_Missense_Mutation_p.C458Y|DYRK1B_ENST00000430012.2_Missense_Mutation_p.C418Y|DYRK1B_ENST00000597639.1_Missense_Mutation_p.C430Y|DYRK1B_ENST00000348817.3_Missense_Mutation_p.C430Y Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 458 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GGAAGAGGGGCAGGTGTCGAG 0.697000 3 10 0 0 1 0 0 AGPS 8540 broad.mit.edu 37 2 178301583 178301583 + Missense_Mutation SNP A A C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:178301583A>C ENST00000264167.4 + 4 679 c.533A>C c.(532-534)gAg>gCg p.E178A AGPS_ENST00000409888.1_Intron NM_003659.3 NP_003650.1 O00116 ADAS_HUMAN alkylglycerone phosphate synthase 178 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) TATTCACAAGAGGCAGATGAT 0.289000 8 101 0 0 1 0 0 RNF130 55819 broad.mit.edu 37 5 179440198 179440198 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr5:179440198G>A ENST00000522208.2 - 3 574 c.556C>T c.(556-558)Cca>Tca p.P186S RNF130_ENST00000261947.4_Missense_Mutation_p.P186S|RNF130_ENST00000521389.1_Missense_Mutation_p.P186S Q86XS8 GOLI_HUMAN ring finger protein 130 186 apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 17 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCTTCGGTGGCATTCGAGTT 0.378000 60 24 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9967987 9967987 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:9967987G>A ENST00000264833.4 - 4 717 c.532C>T c.(532-534)Cgg>Tgg p.R178W OLFM2_ENST00000590841.1_Missense_Mutation_p.R100W NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 178 extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 GCCATCACCCGTTGCTGCAGG 0.637000 9 107 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951472 119951472 + Silent SNP A A T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr4:119951472A>T ENST00000307142.4 + 4 1738 c.1542A>T c.(1540-1542)gtA>gtT p.V514V SYNPO2_ENST00000429713.2_Silent_p.V514V|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.V514V NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 514 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGGACAAGGTAGGTGGAACGC 0.517000 12 29 0 0 1 0 0 SRP68 6730 broad.mit.edu 37 17 74068434 74068434 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:74068434C>T ENST00000307877.2 - 1 300 c.139G>A c.(139-141)Gga>Aga p.G47R SRP68_ENST00000539137.1_Missense_Mutation_p.G47R|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 47 response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 GCCTTCGATCCGGCCGAAGGG 0.592000 187 496 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121748015 121748015 + Missense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:121748015C>A ENST00000452319.1 + 14 4585 c.4525C>A c.(4525-4527)Cag>Aag p.Q1509K GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.Q1509K P10070 GLI2_HUMAN GLI family zinc finger 2 1509 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GGAGGCCCCCCAGATTGACTT 0.622000 10 374 1.58986e-06 1.72918e-06 1 1 0 HDAC4 9759 broad.mit.edu 37 2 239975193 239975193 + Missense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:239975193C>A ENST00000345617.3 - 26 3969 c.3178G>T c.(3178-3180)Gcc>Tcc p.A1060S HDAC4_ENST00000543185.1_Missense_Mutation_p.A644S NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 1060 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GACAGCGAGGCCATGGCGGTG 0.667000 57 17 2.12129e-23 2.58723e-23 1 1 0 SDHAP1 255812 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 11 174 0 0 1 0 0 PSMD13 5719 broad.mit.edu 37 11 251889 251889 + Nonsense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:251889C>T ENST00000532097.1 + 12 1492 c.988C>T c.(988-990)Cga>Tga p.R330* PSMD13_ENST00000532025.1_3'UTR|PSMD13_ENST00000431206.2_Nonsense_Mutation_p.R332*|PSMD13_ENST00000352303.5_Nonsense_Mutation_p.R303* NM_002817.3 NP_002808.3 Q9UNM6 PSD13_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 330 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 10 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129) GGTGGACAAACGAGTCCACAT 0.527000 51 198 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183195922 183195922 + Missense_Mutation SNP G G C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr1:183195922G>C ENST00000264144.4 + 9 1221 c.1156G>C c.(1156-1158)Gtt>Ctt p.V386L LAMC2_ENST00000493293.1_Missense_Mutation_p.V386L NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 386 Laminin EGF-like 4; second part. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 TATATGTCCTGTTGGGTACAA 0.522000 22 245 0 0 1 0 0 ANKRD30BP3 338579 broad.mit.edu 37 10 45652235 45652235 + RNA SNP C C G rs149362183 TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr10:45652235C>G ENST00000427229.2 + 0 1749 GAAGGAACATCTGAAGGAACA 0.478000 5 18 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141739846 141739846 + Splice_Site SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:141739846C>A ENST00000389484.3 - 18 3742 c.e18-1 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATGTTCTGGCTATGATGATC 0.393000 TSP Lung(27;0.18) 22 9 2.70639e-06 2.89873e-06 1 1 0 NLRP2 55655 broad.mit.edu 37 19 55494318 55494318 + Missense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:55494318C>A ENST00000543010.1 + 6 1395 c.1252C>A c.(1252-1254)Ccg>Acg p.P418T NLRP2_ENST00000427260.2_Missense_Mutation_p.P395T|NLRP2_ENST00000538819.1_Missense_Mutation_p.P394T|NLRP2_ENST00000448584.2_Missense_Mutation_p.P418T|NLRP2_ENST00000537859.1_Missense_Mutation_p.P396T|NLRP2_ENST00000339757.7_Missense_Mutation_p.P396T|NLRP2_ENST00000391721.4_Missense_Mutation_p.P394T|NLRP2_ENST00000263437.6_Missense_Mutation_p.P415T NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 418 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GGGGGAGGACCCGGTCCCCAC 0.697000 8 22 7.48243e-07 8.18027e-07 1 1 0 CROT 54677 broad.mit.edu 37 7 86998740 86998740 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr7:86998740G>A ENST00000331536.3 + 7 781 c.596G>A c.(595-597)cGa>cAa p.R199Q CROT_ENST00000442291.1_Missense_Mutation_p.R199Q|CROT_ENST00000419147.2_Missense_Mutation_p.R227Q NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 199 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TGTCGAGGCCGAGCTTTTGTC 0.438000 72 91 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121416012 121416012 + Missense_Mutation SNP T T C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr3:121416012T>C ENST00000393667.3 - 13 3468 c.3358A>G c.(3358-3360)Atc>Gtc p.I1120V GOLGB1_ENST00000340645.5_Missense_Mutation_p.I1115V NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1115 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TTTTCACTGATTTCTGCTTGG 0.418000 112 118 0 0 1 0 0 RPUSD4 84881 broad.mit.edu 37 11 126081423 126081423 + Silent SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:126081423G>A ENST00000298317.4 - 1 164 c.111C>T c.(109-111)gcC>gcT p.A37A RPUSD4_ENST00000533628.1_Silent_p.A37A|FAM118B_ENST00000533050.1_5'UTR NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 37 Poly-Ala. pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) TGGCCGTAGAGGCAGCGGCAG 0.597000 136 146 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23299924 23299924 + RNA SNP C C T rs148090660 by1000genomes TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr15:23299924C>T ENST00000560464.1 - 0 4363 CCAGGCAAGCCGGACGCATTC 0.577000 3 29 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 11 177 0 0 1 0 0 ADORA2A 135 broad.mit.edu 37 22 24837117 24837117 + Missense_Mutation SNP G G A rs4990 by1000genomes TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr22:24837117G>A ENST00000337539.7 + 3 1358 c.899G>A c.(898-900)cGc>cAc p.R300H ADORA2A_ENST00000496497.1_3'UTR|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1 NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1 P29274 AA2AR_HUMAN adenosine A2a receptor 300 R -> H (in dbSNP:rs4990). apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1) 21 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) CAGACCTTCCGCAAGATCATT 0.587000 9 49 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139405702 139405702 + Missense_Mutation SNP A A T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr9:139405702A>T ENST00000277541.6 - 16 2564 c.2489T>A c.(2488-2490)cTg>cAg p.L830Q NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 830 EGF-like 22. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ACACGGGGCCAGCACCACCTC 0.657000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 21 25 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133789962 133789962 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:133789962C>T ENST00000321016.8 - 18 3888 c.3658G>A c.(3658-3660)Gcc>Acc p.A1220T IGSF9B_ENST00000533871.2_Missense_Mutation_p.A1220T Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1220 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CGGGCACGGGCGGCGAGCTCA 0.672000 33 33 0 0 1 0 0 IL17RA 23765 broad.mit.edu 37 22 17578709 17578709 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr22:17578709G>T ENST00000319363.6 + 3 319 c.186G>T c.(184-186)tgG>tgT p.W62C IL17RA_ENST00000477874.1_3'UTR NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 62 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) ATGACAGCTGGATTCACCCTC 0.577000 12 65 0.0931896 0.0936333 1 1 0 MUC17 140453 broad.mit.edu 37 7 100683582 100683582 + Missense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr7:100683582C>A ENST00000306151.4 + 3 8949 c.8885C>A c.(8884-8886)tCt>tAt p.S2962Y NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2962 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTCACCACTTCTGCTGAAGCT 0.493000 144 268 3.69866e-55 4.72981e-55 1 1 0 NLRP10 338322 broad.mit.edu 37 11 7981913 7981913 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:7981913G>T ENST00000328600.2 - 2 1407 c.1246C>A c.(1246-1248)Cta>Ata p.L416I NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 416 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCAGCTGCTAGGGAGCACAGA 0.547000 13 70 0.0931896 0.0936333 1 1 0 LRRN3 54674 broad.mit.edu 37 7 110763329 110763329 + Silent SNP T T A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr7:110763329T>A ENST00000451085.1 + 4 1547 c.501T>A c.(499-501)ctT>ctA p.L167L IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Silent_p.L167L|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000422987.3_Silent_p.L167L|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 167 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ATAATCTTCTTCGACTTCATC 0.363000 66 60 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197316469 197316469 + Splice_Site SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr1:197316469G>A ENST00000367400.3 + 4 983 c.e4-1 CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000543483.1_Splice_Site|CRB1_ENST00000367399.2_Intron NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTACTTTCCAGATATAGCTGT 0.393000 7 115 0 0 1 0 0 PLK2 10769 broad.mit.edu 37 5 57752328 57752328 + Silent SNP C C T rs141029220 byFrequency TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr5:57752328C>T ENST00000274289.3 - 9 1545 c.1245G>A c.(1243-1245)agG>agA p.R415R PLK2_ENST00000502671.1_5'UTR NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 415 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) CCTCATCTGTCCTGTGTTTGC 0.368000 6 171 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118529659 118529659 + Nonsense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr5:118529659C>A ENST00000311085.8 + 30 7531 c.7451C>A c.(7450-7452)tCa>tAa p.S2484* DMXL1_ENST00000539542.1_Nonsense_Mutation_p.S2484* NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2484 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AATTCAAATTCATATAGGTAT 0.264000 9 5 0.307466 0.307466 1 1 0 CHERP 10523 broad.mit.edu 37 19 16638968 16638968 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:16638968G>T ENST00000546361.2 - 9 1379 c.1228C>A c.(1228-1230)Cca>Aca p.P410T CHERP_ENST00000198939.6_Missense_Mutation_p.P421T|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 410 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 TGGTCGTGTggcccggggccc 0.642000 49 118 3.76525e-18 4.53981e-18 1 1 0 PCDH8 5100 broad.mit.edu 37 13 53420293 53420293 + Missense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr13:53420293C>A ENST00000377942.3 - 1 2482 c.2279G>T c.(2278-2280)tGc>tTc p.C760F PCDH8_ENST00000338862.4_Missense_Mutation_p.C760F NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 760 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CAGCAGCGTGCAGCTCCCGGC 0.716000 4 74 0.014758 0.0151162 1 1 0 TRIM42 287015 broad.mit.edu 37 3 140407285 140407285 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr3:140407285C>T ENST00000286349.3 + 3 1952 c.1761C>T c.(1759-1761)agC>agT p.S587S NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 587 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TACAGAACAGCAGCAGCTTCC 0.572000 56 155 0 0 1 0 0 SLC38A10 124565 broad.mit.edu 37 17 79268721 79268721 + Translation_Start_Site SNP T T C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:79268721T>C ENST00000374759.3 - 1 384 c.1A>G c.(1-3)Atg>Gtg p.M1V SLC38A10_ENST00000288439.5_Start_Codon_SNP_p.M1V NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 1 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GCCGCGGTCATAGTGAGAGGT 0.667000 54 32 0 0 1 0 0 LRG1 116844 broad.mit.edu 37 19 4538603 4538603 + Silent SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:4538603C>A ENST00000306390.6 - 2 853 c.393G>T c.(391-393)ctG>ctT p.L131L LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 131 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCCGGGGGCAGCCCGGTCA 0.632000 42 100 5.04308e-16 5.97803e-16 1 1 0 ATXN1 6310 broad.mit.edu 37 6 16327921 16327921 + Missense_Mutation SNP C C A rs142039862 by1000genomes TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr6:16327921C>A ENST00000244769.4 - 8 1557 c.621G>T c.(619-621)caG>caT p.Q207H ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 207 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.Q207H(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgatgctgctgctgctgct 0.662000 4 29 0.00909568 0.0093619 1 1 0 TUBA4B 80086 broad.mit.edu 37 2 220136572 220136572 + RNA SNP A A G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:220136572A>G ENST00000490341.1 + 0 1042 NR_003063.1 TTTAAGGTTGATATCAATCAC 0.537000 32 25 0 0 1 0 0 KRTAP10-10 353333 broad.mit.edu 37 21 46058062 46058062 + Missense_Mutation SNP T T G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr21:46058062T>G ENST00000380095.1 + 1 790 c.728T>G c.(727-729)cTc>cGc p.L243R TSPEAR_ENST00000323084.4_Intron NM_181688.1 NP_859016.1 P60014 KR10A_HUMAN keratin associated protein 10-10 243 keratin filament NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 13 TGCTACAGCCTCTGCTCTGGC 0.687000 30 26 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37471214 37471214 + Missense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr22:37471214C>A ENST00000381792.2 - 11 1443 c.1303G>T c.(1303-1305)Ggt>Tgt p.G435C TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G435C|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.G444C|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G435C Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 444 CUB 2. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 ACCCGCACACCGGGCCCGGTG 0.657000 38 91 4.16155e-14 4.8513e-14 1 1 0 FAM120A 23196 broad.mit.edu 37 9 96289498 96289498 + Nonsense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr9:96289498C>T ENST00000277165.6 + 8 1674 c.1480C>T c.(1480-1482)Cga>Tga p.R494* FAM120A_ENST00000375389.3_Nonsense_Mutation_p.R494*|FAM120A_ENST00000333936.5_Nonsense_Mutation_p.R522*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.R494* NM_014612.3 NP_055427.2 Q9NZB2 F120A_HUMAN family with sequence similarity 120A 494 cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GCCTCAGGCACGAGGAGACCC 0.418000 12 45 0 0 1 0 0 PRF1 5551 broad.mit.edu 37 10 72358471 72358471 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr10:72358471G>T ENST00000441259.1 - 3 1166 c.1006C>A c.(1006-1008)Cct>Act p.P336T PRF1_ENST00000373209.2_Missense_Mutation_p.P336T NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 336 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 ACCAGGCCAGGGCTGCCGGGC 0.662000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 22 31 1.55795e-14 1.83646e-14 1 1 0 ZNF254 9534 broad.mit.edu 37 19 24288784 24288784 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:24288784G>A ENST00000357002.4 + 2 188 c.73G>A c.(73-75)Gag>Aag p.E25K ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Missense_Mutation_p.E25K NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 25 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATTCTCTCTGGAGGAGTGGCA 0.413000 87 164 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129874990 129874990 + Missense_Mutation SNP C C G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr10:129874990C>G ENST00000254667.3 + 18 2002 c.1723C>G c.(1723-1725)Cag>Gag p.Q575E PTPRE_ENST00000419012.2_Missense_Mutation_p.Q575E|PTPRE_ENST00000306042.5_Missense_Mutation_p.Q517E NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 575 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) CACTCTCAATCAGGTATTGTT 0.448000 61 131 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46657616 46657616 + Missense_Mutation SNP G G C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr6:46657616G>C ENST00000544460.1 + 1 2005 c.1751G>C c.(1750-1752)aGg>aCg p.R584T TDRD6_ENST00000316081.6_Missense_Mutation_p.R584T NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 584 Tudor 3. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TATGACGTAAGGATGCTGCTT 0.463000 45 110 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140774102 140774102 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr5:140774102C>T ENST00000398604.2 + 1 1722 c.1722C>T c.(1720-1722)ggC>ggT p.G574G PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCCACTGGCGTGGAGCTGG 0.662000 118 59 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36279294 36279294 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:36279294C>T ENST00000007510.4 + 21 3971 c.3827C>T c.(3826-3828)tCc>tTc p.S1276F ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1112F|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1115F O14559 RHG33_HUMAN Rho GTPase activating protein 33 1276 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CCCAGCTGGTCCCTCCACTCT 0.647000 4 3 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40434017 40434017 + Silent SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:40434017G>A ENST00000221347.6 - 2 259 c.252C>T c.(250-252)ccC>ccT p.P84P NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 84 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCGACTCCCCGGGCCTCACTG 0.562000 79 94 0 0 1 0 0 PPM1D 8493 broad.mit.edu 37 17 58740623 58740623 + Nonsense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:58740623C>T ENST00000305921.3 + 6 1760 c.1528C>T c.(1528-1530)Caa>Taa p.Q510* NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 510 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) TGTCATGGACCAAAAAAATTT 0.378000 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 42 116 0 0 1 0 0 PSMA4 5685 broad.mit.edu 37 15 78838080 78838080 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr15:78838080G>T ENST00000044462.7 + 7 631 c.481G>T c.(481-483)Gcc>Tcc p.A161S PSMA4_ENST00000413382.2_Missense_Mutation_p.A90S|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000560217.1_Missense_Mutation_p.A130S|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000559082.1_Missense_Mutation_p.A161S|PSMA4_ENST00000558281.1_Missense_Mutation_p.A161S|PSMA4_ENST00000558094.1_Missense_Mutation_p.A73S NM_002789.4 NP_002780.1 P25789 PSA4_HUMAN proteasome (prosome, macropain) subunit, alpha type, 4 161 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 GGGATGGAAGGCCACATGCAT 0.418000 5 222 0.000602214 0.000629046 1 1 0 POLR2A 5430 broad.mit.edu 37 17 7416817 7416817 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:7416817G>A ENST00000322644.6 + 29 5633 c.5234G>A c.(5233-5235)aGc>aAc p.S1745N NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 1745 52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) tcacccaccagcccGAACTAT 0.537000 152 63 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20803514 20803514 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr12:20803514G>T ENST00000359062.3 + 14 2945 c.2905G>T c.(2905-2907)Gtc>Ttc p.V969F PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 969 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) AGATGGTATTGTCAATGAATT 0.363000 4 65 0.00024832 0.000260674 1 1 0 GDF10 2662 broad.mit.edu 37 10 48429054 48429054 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr10:48429054C>T ENST00000224605.2 - 2 1097 c.832G>A c.(832-834)Gca>Aca p.A278T NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 278 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 TTGGGGGCTGCGCGGGGCTCG 0.701000 6 10 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31418318 31418318 + Missense_Mutation SNP G G C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr1:31418318G>C ENST00000373747.3 - 18 2971 c.2872C>G c.(2872-2874)Cgg>Ggg p.R958G PUM1_ENST00000423018.2_Missense_Mutation_p.R813G|PUM1_ENST00000373742.2_Missense_Mutation_p.R896G|PUM1_ENST00000257075.5_Missense_Mutation_p.R955G|PUM1_ENST00000373741.4_Missense_Mutation_p.R993G|PUM1_ENST00000424085.2_Missense_Mutation_p.R713G|PUM1_ENST00000426105.2_Missense_Mutation_p.R957G|PUM1_ENST00000440538.2_Missense_Mutation_p.R931G NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 955 PUM-HD. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TCTAGTTCCCGAACCATCTCA 0.408000 35 15 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78023975 78023975 + Missense_Mutation SNP G G A rs61736668 TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:78023975G>A ENST00000397545.4 + 7 1079 c.1052G>A c.(1051-1053)cGc>cAc p.R351H CCDC40_ENST00000374877.3_Missense_Mutation_p.R351H|CCDC40_ENST00000269318.5_Missense_Mutation_p.R351H|CCDC40_ENST00000374876.4_Missense_Mutation_p.R351H NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 351 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGTCACGACCGCCACGCAATG 0.657000 17 44 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31318530 31318530 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr18:31318530G>T ENST00000269197.5 + 11 1162 c.1162G>T c.(1162-1164)Ggg>Tgg p.G388W NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TTCTTCATGTGGGACTTCTGG 0.478000 15 33 2.31682e-05 2.46894e-05 1 1 0 PRLR 5618 broad.mit.edu 37 5 35072844 35072844 + Missense_Mutation SNP G G C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr5:35072844G>C ENST00000382002.5 - 6 802 c.376C>G c.(376-378)Cag>Gag p.Q126E PRLR_ENST00000397391.3_Missense_Mutation_p.Q55E|PRLR_ENST00000348262.3_Missense_Mutation_p.Q126E|PRLR_ENST00000342362.5_Missense_Mutation_p.Q25E|PRLR_ENST00000310101.5_Missense_Mutation_p.Q126E|PRLR_ENST00000231423.3_Missense_Mutation_p.Q126E|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.Q126E|PRLR_ENST00000542609.1_Missense_Mutation_p.Q126E|PRLR_ENST00000511486.1_Missense_Mutation_p.Q25E NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 126 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GGGTCTGGCTGAACTGCAGAA 0.428000 23 49 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61539354 61539354 + Nonsense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:61539354C>T ENST00000278836.5 + 7 1141 c.1045C>T c.(1045-1047)Cag>Tag p.Q349* MYRF_ENST00000265460.5_Nonsense_Mutation_p.Q340*|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor CCCCAACTACCAGTCCATCAA 0.602000 39 96 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23299928 23299928 + RNA SNP C C T rs142794095 by1000genomes TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr15:23299928C>T ENST00000560464.1 - 0 4359 GCAAGCCGGACGCATTCCCGG 0.572000 3 30 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79322473 79322473 + Nonsense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr9:79322473G>A ENST00000428286.1 - 8 4840 c.3640C>T c.(3640-3642)Caa>Taa p.Q1214* PRUNE2_ENST00000376718.3_Nonsense_Mutation_p.Q1573* Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1573 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CAGTTGCCTTGGTTTTCTTCT 0.423000 11 74 0 0 1 0 0 FIGN 55137 broad.mit.edu 37 2 164468152 164468152 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:164468152C>T ENST00000333129.3 - 3 504 c.190G>A c.(190-192)Gca>Aca p.A64T FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 64 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 AGGTTGGATGCAGTCAGAGCA 0.502000 6 150 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17306179 17306179 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:17306179G>A ENST00000595618.1 + 22 4095 c.3943G>A c.(3943-3945)Ggc>Agc p.G1315S MYO9B_ENST00000397274.2_Missense_Mutation_p.G1315S|MYO9B_ENST00000594824.1_Missense_Mutation_p.G1315S NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1315 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 ACTGTGGCGGGGCAAGAAGCT 0.706000 14 71 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52661591 52661591 + Splice_Site SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr13:52661591C>T ENST00000355568.4 - 15 1415 c.e15-1 NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GACGAAGACCCTATTTATTGA 0.343000 57 50 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26619920 26619920 + Missense_Mutation SNP T T A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:26619920T>A ENST00000256737.3 + 15 2308 c.1456T>A c.(1456-1458)Ttc>Atc p.F486I ANO3_ENST00000531568.1_Missense_Mutation_p.F340I|ANO3_ENST00000525139.1_Missense_Mutation_p.F470I|ANO3_ENST00000537978.1_Missense_Mutation_p.F470I NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 486 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 AGCCACAGTCTTCCTGGAGTT 0.318000 10 52 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140707501 140707501 + Nonsense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr9:140707501G>T ENST00000460843.1 + 20 2938 c.2911G>T c.(2911-2913)Gaa>Taa p.E971* NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 971 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) AAAGAACAAGGAAGGAGAGAC 0.512000 48 123 1.81118e-26 2.23485e-26 1 1 0 KLC3 147700 broad.mit.edu 37 19 45851307 45851307 + Missense_Mutation SNP A A G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:45851307A>G ENST00000470402.1 + 4 810 c.710A>G c.(709-711)tAt>tGt p.Y237C KLC3_ENST00000585434.1_Missense_Mutation_p.Y222C|KLC3_ENST00000391946.2_Missense_Mutation_p.Y223C Q6P597 KLC3_HUMAN kinesin light chain 3 223 cytoplasm|kinesin complex|microtubule microtubule motor activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CAGGGCCGCTATGAGGTGGCG 0.677000 7 10 0 0 1 0 0 MOCOS 55034 broad.mit.edu 37 18 33795625 33795625 + Silent SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr18:33795625G>A ENST00000261326.5 + 8 1503 c.1482G>A c.(1480-1482)ggG>ggA p.G494G NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 494 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) ACTCATCAGGGGACTGGCCTG 0.552000 4 56 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39920973 39920973 + Missense_Mutation SNP T T C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:39920973T>C ENST00000393931.3 - 7 1268 c.1150A>G c.(1150-1152)Acc>Gcc p.T384A JUP_ENST00000393930.1_Missense_Mutation_p.T384A|JUP_ENST00000310706.5_Missense_Mutation_p.T384A|JUP_ENST00000540235.1_Intron NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 384 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) ACCTGCTTGGTGGCCACATCT 0.642000 35 53 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113220821 113220821 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr9:113220821G>A ENST00000401783.2 - 20 3842 c.3506C>T c.(3505-3507)gCg>gTg p.A1169V SVEP1_ENST00000374469.1_Missense_Mutation_p.A1146V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.A1169V NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1169 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.A1169V(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 TTCCTCTGCCGCTGAGAAAGT 0.393000 7 13 0 0 1 0 0 NPFF 8620 broad.mit.edu 37 12 53901159 53901159 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr12:53901159C>T ENST00000267017.3 - 1 263 c.100G>A c.(100-102)Gcg>Acg p.A34T RP11-793H13.10_ENST00000591834.1_Intron NM_003717.2 NP_003708.1 O15130 NPFF_HUMAN neuropeptide FF-amide peptide precursor 34 neuropeptide signaling pathway|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1) 3 ACACTCACCGCGGAGAGCTGG 0.557000 7 82 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201618544 201618544 + Nonsense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr1:201618544C>T ENST00000367296.4 + 1 1168 c.748C>T c.(748-750)Cag>Tag p.Q250* NAV1_ENST00000367302.1_Nonsense_Mutation_p.Q263*|NAV1_ENST00000295624.6_Nonsense_Mutation_p.Q250*|NAV1_ENST00000367300.3_Nonsense_Mutation_p.Q250*|NAV1_ENST00000367297.4_Nonsense_Mutation_p.Q250* NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 250 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GCTCTTCAGCCAGATGCTGGG 0.677000 3 6 0 0 1 0 0 COG6 57511 broad.mit.edu 37 13 40325082 40325082 + Splice_Site SNP G G C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr13:40325082G>C ENST00000455146.3 + 19 1876 c.e19-1 COG6_ENST00000416691.1_Intron NM_020751.2 NP_065802.1 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 protein transport Golgi membrane|Golgi transport complex NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1) 13 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) CTTATCAATAGAGAGCAGATC 0.333000 3 35 0 0 1 0 0 COL9A3 1299 broad.mit.edu 37 20 61471965 61471965 + Missense_Mutation SNP G G C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr20:61471965G>C ENST00000343916.3 + 32 1939 c.1936G>C c.(1936-1938)Gat>Cat p.D646H COL9A3_ENST00000462700.1_3'UTR NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 646 Triple-helical region 1 (COL1). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) GCCTCCCGGAGATCCTGGGCT 0.672000 18 25 0 0 1 0 0 POU4F1 5457 broad.mit.edu 37 13 79176022 79176022 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr13:79176022G>A ENST00000377208.5 - 2 999 c.788C>T c.(787-789)aCg>aTg p.T263M RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000430549.2_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 263 POU-specific. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GCGCGGGTCCGTGTCCGAGTC 0.776000 6 9 0 0 1 0 0 IGLV5-37 28783 broad.mit.edu 37 22 22782197 22782197 + RNA SNP C C G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr22:22782197C>G ENST00000390300.2 + 0 200 GGAGCCCTCCCAGGTATCTCC 0.542000 5 143 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26443684 26443684 + Nonsense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr10:26443684G>T ENST00000265944.5 + 25 2891 c.2725G>T c.(2725-2727)Gga>Tga p.G909* MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 909 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GGGCGACACTGGAGAAGCCAC 0.403000 21 28 1.85244e-09 2.06807e-09 1 1 0 C11orf30 56946 broad.mit.edu 37 11 76255458 76255458 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:76255458C>T ENST00000529032.1 + 18 2865 c.2865C>T c.(2863-2865)agC>agT p.S955S C11orf30_ENST00000334736.3_Silent_p.S955S|C11orf30_ENST00000524490.1_Silent_p.S857S|C11orf30_ENST00000525919.1_Silent_p.S956S|C11orf30_ENST00000525038.1_Silent_p.S956S|C11orf30_ENST00000524767.1_Silent_p.S970S|C11orf30_ENST00000533248.1_Silent_p.S864S|C11orf30_ENST00000343878.3_Silent_p.S955S Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 955 Gln-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 AGAAACTTAGCCAGCCCCCGC 0.532000 40 44 0 0 1 0 0 ZFP1 162239 broad.mit.edu 37 16 75204063 75204063 + Missense_Mutation SNP A A G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr16:75204063A>G ENST00000393430.2 + 4 1179 c.1055A>G c.(1054-1056)tAt>tGt p.Y352C ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000332307.4_Missense_Mutation_p.Y319C|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.Y352C Q6P2D0 ZFP1_HUMAN ZFP1 zinc finger protein 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 12 GAGAAACCCTATGAATGTACT 0.443000 9 98 0 0 1 0 0 TXK 7294 broad.mit.edu 37 4 48073587 48073587 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr4:48073587G>A ENST00000264316.4 - 14 1547 c.1462C>T c.(1462-1464)Cct>Tct p.P488S TXK_ENST00000507351.1_Missense_Mutation_p.P143S NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 488 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 GCCAGGTGAGGGCGATATAGC 0.418000 97 78 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138655203 138655203 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr6:138655203C>T ENST00000251691.4 + 33 5386 c.5220C>T c.(5218-5220)ccC>ccT p.P1740P NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1740 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TCAAAGGCCCCTCTCCTGGAG 0.478000 36 35 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072357 134072357 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr4:134072357C>T ENST00000264360.4 + 1 1888 c.1062C>T c.(1060-1062)aaC>aaT p.N354N NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 354 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTAATGACAACGCGCCAGAGA 0.627000 48 30 0 0 1 0 0 MARCH11 441061 broad.mit.edu 37 5 16091177 16091177 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr5:16091177G>T ENST00000332432.8 - 3 906 c.707C>A c.(706-708)tCt>tAt p.S236Y MARCH11_ENST00000505509.1_5'UTR NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 236 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 CAGTGTTATAGAAATGCTCTG 0.393000 6 8 5.9392e-07 6.52693e-07 1 1 0 TP53 7157 broad.mit.edu 37 17 7578239 7578239 + Nonsense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:7578239C>A ENST00000420246.2 - 6 742 c.610G>T c.(610-612)Gag>Tag p.E204* TP53_ENST00000413465.2_Nonsense_Mutation_p.E204*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E204*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E204*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E204*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E204* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 204 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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) TCCAAATACTCCACACGCAAA 0.542000 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) 26 19 8.16721e-17 9.73605e-17 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139395258 139395258 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr9:139395258C>T ENST00000277541.6 - 31 5755 c.5680G>A c.(5680-5682)Ggc>Agc p.G1894S NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1894 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTCTCCAGGCCGCCCCCGCTG 0.682000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 26 24 0 0 1 0 0 EXOC6B 23233 broad.mit.edu 37 2 72740282 72740282 + Silent SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:72740282G>T ENST00000272427.6 - 11 1276 c.1146C>A c.(1144-1146)atC>atA p.I382I EXOC6B_ENST00000410104.1_Silent_p.I382I NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 382 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 GGAGTGCTGCGATGGTTTTTG 0.388000 25 35 5.35356e-11 6.00851e-11 1 1 0 SLC26A3 1811 broad.mit.edu 37 7 107414497 107414497 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr7:107414497C>T ENST00000340010.5 - 17 2059 c.1875G>A c.(1873-1875)ctG>ctA p.L625L SLC26A3_ENST00000422236.2_Intron NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 625 STAS. excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TGTGGAAAGGCAGGTCTGTGG 0.433000 8 165 0 0 1 0 0 AGGF1 55109 broad.mit.edu 37 5 76326776 76326776 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr5:76326776G>T ENST00000312916.7 + 1 567 c.185G>T c.(184-186)aGc>aTc p.S62I AGGF1_ENST00000503538.1_Intron|AGGF1_ENST00000506806.1_Missense_Mutation_p.S62I NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 62 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) AACGCAGAAAGCAACAACCAG 0.637000 30 12 2.61193e-14 3.06176e-14 1 1 0 MAPT 4137 broad.mit.edu 37 17 44039726 44039726 + Missense_Mutation SNP T T C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:44039726T>C ENST00000344290.5 + 2 345 c.23T>C c.(22-24)tTc>tCc p.F8S MAPT_ENST00000574436.1_Missense_Mutation_p.F8S|MAPT_ENST00000571987.1_Missense_Mutation_p.F8S|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Missense_Mutation_p.F8S|MAPT_ENST00000446361.3_Missense_Mutation_p.F8S|MAPT_ENST00000420682.2_Missense_Mutation_p.F8S|MAPT_ENST00000415613.2_Missense_Mutation_p.F8S|MAPT_ENST00000351559.5_Missense_Mutation_p.F8S|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000340799.5_Missense_Mutation_p.F8S|MAPT_ENST00000334239.8_Missense_Mutation_p.F8S|MAPT_ENST00000262410.5_Missense_Mutation_p.F8S|MAPT_ENST00000431008.3_Missense_Mutation_p.F8S NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 8 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CGCCAGGAGTTCGAAGTGATG 0.577000 49 10 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197349091 197349091 + RNA SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr3:197349091G>A ENST00000418868.1 - 0 486 NR_003266.2 GCTCCGTCACGTAGTGGATGG 0.582000 5 74 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138376947 138376947 + Silent SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr9:138376947C>A ENST00000356818.2 + 4 1140 c.591C>A c.(589-591)ggC>ggA p.G197G PPP1R26_ENST00000605286.1_Silent_p.G197G|PPP1R26_ENST00000604351.1_Silent_p.G197G|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.G197G|PPP1R26_ENST00000605660.1_Silent_p.G197G NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 197 nucleolus protein binding CAGGTGGTGGCCCCGGCAGCC 0.652000 6 105 0.0215528 0.0218636 1 1 0 ZFYVE1 53349 broad.mit.edu 37 14 73440836 73440836 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr14:73440836C>T ENST00000556143.1 - 11 2773 c.2053G>A c.(2053-2055)Gtg>Atg p.V685M ZFYVE1_ENST00000553891.1_Missense_Mutation_p.V685M|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.V270M|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.V671M|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.V270M NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 685 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) GTGTTCTGCACGGCCTCGCCC 0.557000 25 109 0 0 1 0 0 CCDC50 152137 broad.mit.edu 37 3 191047497 191047497 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr3:191047497C>T ENST00000392455.3 + 1 632 c.34C>T c.(34-36)Cct>Tct p.P12S UTS2B_ENST00000340524.5_Intron|CCDC50_ENST00000392456.3_Missense_Mutation_p.P12S NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 12 cytoplasm protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) GTCCAAGCTGCCTGGAGTCAA 0.692000 28 13 0 0 1 0 0 RNF148 378925 broad.mit.edu 37 7 122342525 122342525 + Missense_Mutation SNP T T A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr7:122342525T>A ENST00000434824.1 - 1 496 c.280A>T c.(280-282)Agg>Tgg p.R94W CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Intron NM_198085.1 NP_932351.1 Q8N7C7 RN148_HUMAN ring finger protein 148 94 PA. integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 TGTTTGGGCCTGCTGAAATTG 0.507000 69 105 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56950010 56950010 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:56950010G>A ENST00000497933.1 + 1 790 c.643G>A c.(643-645)Ggg>Agg p.G215R NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 185 LRRCT. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 CCTCAGTTATGGGGGCCTGGC 0.647000 26 44 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43702201 43702201 + Silent SNP T T A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:43702201T>A ENST00000405312.3 - 3 894 c.657A>T c.(655-657)atA>atT p.I219I PSG4_ENST00000244295.9_Silent_p.I219I|PSG4_ENST00000433626.2_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 219 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) CTGGGTTCCGTATTTCACATT 0.507000 23 135 0 0 1 0 0 SYT12 91683 broad.mit.edu 37 11 66802276 66802276 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:66802276G>T ENST00000393946.2 + 6 1357 c.195G>T c.(193-195)aaG>aaT p.K65N SYT12_ENST00000527043.1_Missense_Mutation_p.K65N|SYT12_ENST00000525457.1_Missense_Mutation_p.K65N|SYT12_ENST00000526281.1_Intron Q8IV01 SYT12_HUMAN synaptotagmin XII 65 cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 TTCAGCAGAAGTACGGCGAGA 0.607000 19 68 5.26018e-13 6.06501e-13 1 1 0 SLC12A7 10723 broad.mit.edu 37 5 1087063 1087063 + Silent SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr5:1087063C>A ENST00000264930.5 - 6 673 c.630G>T c.(628-630)acG>acT p.T210T NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 210 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CCCCTGCAAACGTCGTGCCCA 0.572000 31 55 2.68265e-12 3.04322e-12 1 1 0 OR8K3 219473 broad.mit.edu 37 11 56086206 56086206 + Missense_Mutation SNP C C G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:56086206C>G ENST00000312711.1 + 1 424 c.424C>G c.(424-426)Cag>Gag p.Q142E NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) AAGGGTATGTCAGGTGCTGGT 0.418000 45 52 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1254215 1254215 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr16:1254215C>T ENST00000348261.5 + 10 2456 c.2208C>T c.(2206-2208)caC>caT p.H736H CACNA1H_ENST00000358590.4_Silent_p.H736H|CACNA1H_ENST00000565831.1_Silent_p.H736H NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 736 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity p.H736H(1) breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) ACGTCCGGCACGGTGACCGCT 0.716000 5 25 0 0 1 0 0 MTIF2 4528 broad.mit.edu 37 2 55464538 55464538 + Missense_Mutation SNP A A T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:55464538A>T ENST00000394600.3 - 16 2633 c.1897T>A c.(1897-1899)Tct>Act p.S633T MTIF2_ENST00000403721.1_Missense_Mutation_p.S633T|MTIF2_ENST00000263629.4_Missense_Mutation_p.S633T NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 633 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 TCTGTTACAGAGAAGGTAGCT 0.368000 28 59 0 0 1 0 0 NHP2L1 4809 broad.mit.edu 37 22 42071074 42071074 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr22:42071074G>A ENST00000401959.1 - 4 566 c.250C>T c.(250-252)Cgc>Tgc p.R84C NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000463675.1_5'UTR NM_005008.3 NP_004999.1 P55769 NH2L1_HUMAN NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) 84 nuclear mRNA splicing, via spliceosome|ribosome biogenesis box C/D snoRNP complex|nucleoplasm|spliceosomal complex protein binding|RNA binding endometrium(1)|kidney(1)|lung(1)|prostate(1) 4 TGCTTGGAGCGCACAAACACG 0.577000 4 119 0 0 1 0 0 SPINK4 27290 broad.mit.edu 37 9 33221053 33221053 + Missense_Mutation SNP A A T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr9:33221053A>T ENST00000379725.1 + 2 199 c.77A>T c.(76-78)gAt>gTt p.D26V SPINK4_ENST00000379723.1_Missense_Mutation_p.D26V O60575 ISK4_HUMAN serine peptidase inhibitor, Kazal type 4 0 extracellular region serine-type endopeptidase inhibitor activity lung(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) CTGCTGGGGGATGCTTCGCAC 0.522000 26 7 0 0 1 0 0 INF2 64423 broad.mit.edu 37 14 105180723 105180723 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr14:105180723G>A ENST00000392634.4 + 21 3336 c.3224G>A c.(3223-3225)cGt>cAt p.R1075H INF2_ENST00000330634.7_Missense_Mutation_p.R1075H NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 1075 actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CTGGAGAGGCGTTCTTCCTGG 0.672000 14 2 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74320729 74320729 + Missense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:74320729C>A ENST00000409262.3 + 7 2798 c.2798C>A c.(2797-2799)gCc>gAc p.A933D NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 933 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGGGTCACGGCCTGCATGGAC 0.607000 69 56 2.19297e-23 2.65929e-23 1 1 0 KCNF1 3754 broad.mit.edu 37 2 11053470 11053470 + Missense_Mutation SNP C C G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:11053470C>G ENST00000295082.1 + 1 1408 c.918C>G c.(916-918)caC>caG p.H306Q NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 306 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) TGGCCCGCCACTCCTCGGGCC 0.637000 16 56 0 0 1 0 0 PON2 5445 broad.mit.edu 37 7 95034721 95034721 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr7:95034721C>T ENST00000536183.1 - 9 1232 c.1049G>A c.(1048-1050)gGa>gAa p.G350E PON2_ENST00000222572.3_Missense_Mutation_p.G329E|PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.G317E NM_000305.2 NP_000296.2 Q15165 PON2_HUMAN paraoxonase 2 329 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) TACAGAACTTCCTTGGAGAAC 0.428000 9 102 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102293008 102293008 + RNA SNP A A C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr15:102293008A>C ENST00000561463.1 + 0 1054 p.K171E(1) GCGTGGGAACAAGAAGACACT 0.582000 3 43 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64975341 64975341 + Missense_Mutation SNP C C G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr10:64975341C>G ENST00000399262.2 - 6 1012 c.794G>C c.(793-795)cGt>cCt p.R265P JMJD1C_ENST00000399251.1_Missense_Mutation_p.R46P|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R46P|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R83P NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 265 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TTGATTGGCACGAGACCTGCG 0.368000 26 64 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48806100 48806100 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:48806100C>T ENST00000315396.7 - 10 1662 c.980G>A c.(979-981)aGc>aAc p.S327N NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 327 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) GGCACGTGCGCTCACCAAAGC 0.617000 59 25 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71729878 71729878 + Missense_Mutation SNP T T C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:71729878T>C ENST00000393695.3 - 10 1064 c.733A>G c.(733-735)Acc>Gcc p.T245A NUMA1_ENST00000351960.6_Missense_Mutation_p.T245A|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.T245A NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 245 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CCCTTCTCGGTGAGGAGCTTG 0.577000 T RARA APL 26 60 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038093 75038093 + Missense_Mutation SNP C C G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr1:75038093C>G ENST00000326665.5 - 14 3519 c.3301G>C c.(3301-3303)Gaa>Caa p.E1101Q C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1101 Glu-rich. E -> G (in Ref. 4; BAC86994). NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCCCCTTCTTCCGCTTTAAGT 0.453000 4 118 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52941979 52941979 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr12:52941979G>A ENST00000267119.5 - 5 1004 c.935C>T c.(934-936)gCc>gTc p.A312V NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 312 Coil 2.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) ACTCTTCAAGGCAATCTCCTC 0.577000 40 67 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120840149 120840149 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr10:120840149G>A ENST00000369144.3 - 1 167 c.40C>T c.(40-42)Cgc>Tgc p.R14C EIF3A_ENST00000478852.1_5'UTR NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 14 formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CCGTTGGCGCGTTTGAGGGCA 0.706000 13 10 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117122372 117122372 + Silent SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr1:117122372G>A ENST00000369486.3 - 10 3741 c.2976C>T c.(2974-2976)tcC>tcT p.S992S IGSF3_ENST00000318837.6_Silent_p.S1012S|IGSF3_ENST00000369483.1_Silent_p.S1012S NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 992 Ig-like C2-type 8. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) TAGTCCTCAGGGAATACCAGG 0.612000 8 49 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3613872 3613872 + RNA SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr16:3613872G>A ENST00000301749.7 - 0 1471 NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTCCTCGGGGGCCACAGCTCT 0.662000 39 68 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60895706 60895706 + Missense_Mutation SNP A A C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr20:60895706A>C ENST00000252999.3 - 50 6734 c.6668T>G c.(6667-6669)cTg>cGg p.L2223R NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2223 Domain II and I. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding p.L2223R(1) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGGGGGCCCAGGGGGCTCCG 0.706000 5 15 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135593930 135593930 + Missense_Mutation SNP T T A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chrX:135593930T>A ENST00000535601.1 + 10 2448 c.2026T>A c.(2026-2028)Tca>Aca p.S676T HTATSF1_ENST00000218364.4_Missense_Mutation_p.S676T NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 676 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.S676A(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) GTTTGAAGAGTCAGATGACAA 0.403000 8 82 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88732928 88732928 + Missense_Mutation SNP G G C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr4:88732928G>C ENST00000226284.5 + 7 887 c.820G>C c.(820-822)Gga>Cga p.G274R NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 274 biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) ATACGACAATGGATATGAAAT 0.473000 8 70 0 0 1 0 0 GPR115 221393 broad.mit.edu 37 6 47682838 47682838 + Silent SNP T T A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr6:47682838T>A ENST00000283303.2 + 6 2115 c.1857T>A c.(1855-1857)ggT>ggA p.G619G GPR115_ENST00000371220.1_Silent_p.G676G|GPR115_ENST00000327753.3_Silent_p.G619G NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 619 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 TGACCTGGGGTTTTGGAATAG 0.463000 6 167 0 0 1 0 0 HIST1H2AI 8329 broad.mit.edu 37 6 27775992 27775992 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr6:27775992C>T ENST00000358739.3 + 1 94 c.5C>T c.(4-6)tCt>tTt p.S2F NM_003509.2 NP_003500.1 histone cluster 1, H2ai lung(3) 3 TTTGCCATGTCTGGGCGTGGC 0.542000 108 77 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120809388 120809388 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr10:120809388C>T ENST00000369144.3 - 17 2710 c.2583G>A c.(2581-2583)agG>agA p.R861R EIF3A_ENST00000541549.1_Silent_p.R827R|EIF3A_ENST00000478852.1_Intron NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 861 Glu-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) TTTCCAACTCCCTTTGGCGTT 0.458000 84 159 0 0 1 0 0 CNOT2 4848 broad.mit.edu 37 12 70713123 70713123 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr12:70713123G>A ENST00000229195.3 + 4 796 c.217G>A c.(217-219)Gca>Aca p.A73T CNOT2_ENST00000418359.3_Missense_Mutation_p.A73T NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 73 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) TCAGTTTGGGGCAAGTTTATA 0.338000 15 50 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43420415 43420415 + Nonsense_Mutation SNP G G A rs112289603 byFrequency TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:43420415G>A ENST00000601833.1 - 2 1359 c.76C>T c.(76-78)Cga>Tga p.R26* PSG6_ENST00000402603.4_Nonsense_Mutation_p.R97*|PSG6_ENST00000292125.2_Nonsense_Mutation_p.R97*|PSG6_ENST00000187910.2_Nonsense_Mutation_p.R97* pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) ACTGTTTCTCGTCCACTGTAG 0.458000 28 465 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186978640 186978640 + Missense_Mutation SNP T T A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr3:186978640T>A ENST00000337774.5 - 4 825 c.436A>T c.(436-438)Agg>Tgg p.R146W MASP1_ENST00000392470.2_Missense_Mutation_p.R120W|MASP1_ENST00000169293.6_Missense_Mutation_p.R146W|MASP1_ENST00000392472.2_Missense_Mutation_p.R33W|MASP1_ENST00000296280.6_Missense_Mutation_p.R146W|MASP1_ENST00000495249.1_Intron NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 146 EGF-like; calcium-binding.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TCGTCCTCCCTCTCCTTGCAC 0.507000 138 58 0 0 1 0 0 C1orf159 54991 broad.mit.edu 37 1 1021358 1021358 + Silent SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr1:1021358G>A ENST00000448924.1 - 8 884 c.453C>T c.(451-453)ggC>ggT p.G151G C1orf159_ENST00000437760.1_Silent_p.G115G|C1orf159_ENST00000421241.2_Silent_p.G115G|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Silent_p.G115G|C1orf159_ENST00000379319.1_Silent_p.G115G|C1orf159_ENST00000379320.1_Silent_p.G115G|C1orf159_ENST00000379339.1_Silent_p.G151G Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 151 integral to membrane all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) TGAAGAACGTGCCCAGGAAGA 0.637000 5 30 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179558368 179558368 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:179558368G>A ENST00000589042.1 - 119 31786 c.31562C>T c.(31561-31563)gCc>gTc p.A10521V TTN_ENST00000342992.6_Missense_Mutation_p.A9277V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A10204V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10204 Glu-rich.|Pro-rich. 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) TTTGGAAATGGCAACGTGAAT 0.308000 15 1 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108373054 108373054 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr3:108373054G>A ENST00000361582.3 + 19 2326 c.2096G>A c.(2095-2097)aGt>aAt p.S699N DZIP3_ENST00000463306.1_Missense_Mutation_p.S699N NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 699 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 CACTCAGTCAGTAGACTTATA 0.388000 52 65 0 0 1 0 0 STS 412 broad.mit.edu 37 X 7252104 7252104 + Missense_Mutation SNP A A G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chrX:7252104A>G ENST00000217961.4 + 9 1554 c.1334A>G c.(1333-1335)tAc>tGc p.Y445C NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 445 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) CTCTTCCATTACTGCAACGCC 0.507000 Ichthyosis 41 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060646 9060646 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:9060646G>T ENST00000397910.4 - 3 27003 c.26800C>A c.(26800-26802)Ctt>Att p.L8934I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8936 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTTTCTGAAAGCTGAATTGCC 0.488000 118 261 3.26844e-40 4.12958e-40 1 1 0 KALRN 8997 broad.mit.edu 37 3 124103805 124103805 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr3:124103805C>T ENST00000360013.3 + 11 2005 c.1878C>T c.(1876-1878)atC>atT p.I626I KALRN_ENST00000240874.3_Silent_p.I626I|KALRN_ENST00000460856.1_Silent_p.I626I NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 626 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGGTGCGCATCCAAGACTTCG 0.572000 54 75 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64434817 64434817 + Missense_Mutation SNP T T A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:64434817T>A ENST00000265459.6 - 9 2164 c.1703A>T c.(1702-1704)gAc>gTc p.D568V NRXN2_ENST00000377559.3_Missense_Mutation_p.D537V|NRXN2_ENST00000377551.1_Missense_Mutation_p.D568V|NRXN2_ENST00000409571.1_Missense_Mutation_p.D561V NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 568 Laminin G-like 3. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 AGATCCCATGTCCAGCAGAAG 0.627000 27 85 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585100 82585100 + Silent SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr7:82585100G>A ENST00000423517.2 - 5 5506 c.5169C>T c.(5167-5169)tcC>tcT p.S1723S PCLO_ENST00000333891.8_Silent_p.S1723S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1654 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity 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 GAGTGAAGCTGGAAGCATGCA 0.478000 51 39 0 0 1 0 0 SKA3 221150 broad.mit.edu 37 13 21732143 21732143 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr13:21732143G>A ENST00000314759.5 - 7 1161 c.1037C>T c.(1036-1038)tCa>tTa p.S346L SKA3_ENST00000400018.3_Missense_Mutation_p.S346L NM_145061.5 NP_659498.4 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 346 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 AATCGTAGGTGAAGAGGGATC 0.358000 29 82 0 0 1 0 0 FTSJ2 29960 broad.mit.edu 37 7 2275060 2275060 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr7:2275060C>T ENST00000242257.8 - 3 466 c.438G>A c.(436-438)agG>agA p.R146R FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000407040.1_Silent_p.R52R NM_013393.1 NP_037525.1 Q9UI43 RRMJ2_HUMAN FtsJ RNA methyltransferase homolog 2 (E. coli) 146 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) CATCTGCTCTCCTGCCAGGAA 0.567000 60 58 0 0 1 0 0 TOMM40L 84134 broad.mit.edu 37 1 161197105 161197105 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr1:161197105G>T ENST00000367988.3 + 4 510 c.241G>T c.(241-243)Gcc>Tcc p.A81S TOMM40L_ENST00000545897.1_Missense_Mutation_p.A81S|TOMM40L_ENST00000367987.1_Missense_Mutation_p.A81S|TOMM40L_ENST00000474486.1_Intron NM_032174.4 NP_115550.2 Q969M1 TM40L_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast)-like 81 protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(2)|liver(4)|lung(4) 10 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCTCCATGCGGCCTATGCAGG 0.567000 OREG0013943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 53 9.65021e-13 1.10065e-12 1 1 0 FAM208B 54906 broad.mit.edu 37 10 5788805 5788805 + Silent SNP T T C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr10:5788805T>C ENST00000328090.5 + 15 4046 c.3421T>C c.(3421-3423)Tta>Cta p.L1141L NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1141 AGTGTGTTCATTACAGAAGGA 0.463000 61 99 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21829342 21829342 + Silent SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr14:21829342G>T ENST00000216297.2 - 16 2162 c.1824C>A c.(1822-1824)ccC>ccA p.P608P NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 608 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TCTGTTCTCCGGGTGCCTTAA 0.378000 74 34 7.25294e-45 9.2191e-45 1 1 0 H3F3B 3021 broad.mit.edu 37 17 73775146 73775146 + Missense_Mutation SNP T T A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:73775146T>A ENST00000254810.4 - 2 242 c.110A>T c.(109-111)aAg>aTg p.K37M H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000592643.1_Missense_Mutation_p.K37M|H3F3B_ENST00000586607.1_Missense_Mutation_p.K37M|H3F3B_ENST00000591890.1_Missense_Mutation_p.K37M|H3F3B_ENST00000589599.1_Missense_Mutation_p.K37M|H3F3B_ENST00000587560.1_Missense_Mutation_p.K37M NM_005324.3 NP_005315.1 P84243 H33_HUMAN H3 histone, family 3B (H3.3B) 37 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding large_intestine(1)|lung(4)|ovary(2)|skin(1) 8 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) ATGAGGCTTCTTCACCCCGCC 0.662000 OREG0024740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 36 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13894567 13894567 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr20:13894567G>T ENST00000284951.5 - 5 484 c.410C>A c.(409-411)gCa>gAa p.A137E SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A137E Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 137 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 CATGTCAGCTGCTTTGGCAAA 0.343000 31 53 9.65021e-13 1.10065e-12 1 1 0 GJA10 84694 broad.mit.edu 37 6 90605608 90605608 + Missense_Mutation SNP C C G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr6:90605608C>G ENST00000369352.1 + 1 1421 c.1421C>G c.(1420-1422)aCt>aGt p.T474S NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 474 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) CCTTCAGTCACTGGGCACAGA 0.488000 67 94 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885059 12885059 + Missense_Mutation SNP C C G rs143004725 by1000genomes TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr1:12885059C>G ENST00000535591.1 - 4 1247 c.1052G>C c.(1051-1053)tGc>tCc p.C351S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 351 p.C351S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGTGGCCATGCAGATGGGATT 0.532000 4 155 0 0 1 0 0 CDKN2D 1032 broad.mit.edu 37 19 10679283 10679283 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:10679283G>T ENST00000393599.2 - 1 371 c.47C>A c.(46-48)gCg>gAg p.A16E CDKN2D_ENST00000335766.2_Missense_Mutation_p.A16E NM_001800.3|NM_079421.2 NP_001791.1|NP_524145.1 P55273 CDN2D_HUMAN cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) 16 anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding endometrium(3)|lung(2)|ovary(1) 6 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) GCCCCGGGCCGCCGCCCCACT 0.746000 3 6 0.00909568 0.0093619 1 1 0 RFXAP 5994 broad.mit.edu 37 13 37399619 37399619 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr13:37399619G>A ENST00000255476.2 + 2 789 c.655G>A c.(655-657)Gat>Aat p.D219N RFXAP_ENST00000472888.1_3'UTR NM_000538.3 NP_000529.1 O00287 RFXAP_HUMAN regulatory factor X-associated protein 219 C-terminal domain. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405) ATCTTTTGGGGATCGTCCTGC 0.313000 25 49 0 0 1 0 0 VPS18 57617 broad.mit.edu 37 15 41191868 41191868 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr15:41191868C>T ENST00000220509.5 + 4 1191 c.852C>T c.(850-852)ttC>ttT p.F284F VPS18_ENST00000558474.1_Intron NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 284 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CCCGGGCCTTCGCCTGGATGA 0.637000 41 116 0 0 1 0 0 NAAA 27163 broad.mit.edu 37 4 76841945 76841945 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr4:76841945C>T ENST00000286733.4 - 7 949 c.848G>A c.(847-849)cGa>cAa p.R283Q NAAA_ENST00000505594.1_Missense_Mutation_p.R182Q|NAAA_ENST00000399497.3_Missense_Mutation_p.R283Q|NAAA_ENST00000511606.1_5'UTR|NAAA_ENST00000507956.1_Missense_Mutation_p.R283Q NM_014435.3 NP_055250.2 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase 283 lipid metabolic process lysosome hydrolase activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 11 TGTCTCAACTCGGAACCACCT 0.443000 10 113 0 0 1 0 0 C1orf159 54991 broad.mit.edu 37 1 1021359 1021359 + Missense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr1:1021359C>A ENST00000448924.1 - 8 883 c.452G>T c.(451-453)gGc>gTc p.G151V C1orf159_ENST00000437760.1_Missense_Mutation_p.G115V|C1orf159_ENST00000421241.2_Missense_Mutation_p.G115V|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Missense_Mutation_p.G115V|C1orf159_ENST00000379319.1_Missense_Mutation_p.G115V|C1orf159_ENST00000379320.1_Missense_Mutation_p.G115V|C1orf159_ENST00000379339.1_Missense_Mutation_p.G151V Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 151 integral to membrane all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GAAGAACGTGCCCAGGAAGAG 0.637000 5 30 3.59834e-05 3.81532e-05 1 1 0 ZNF425 155054 broad.mit.edu 37 7 148801826 148801826 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr7:148801826C>T ENST00000378061.2 - 4 1269 c.1137G>A c.(1135-1137)acG>acA p.T379T NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 379 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCTCGCTGTGCGTCCTCTGGT 0.567000 10 216 0 0 1 0 0 GFOD1 54438 broad.mit.edu 37 6 13365622 13365622 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr6:13365622C>T ENST00000379287.3 - 2 1190 c.526G>A c.(526-528)Gtg>Atg p.V176M GFOD1_ENST00000379284.1_Missense_Mutation_p.V73M NM_018988.3 NP_061861.1 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain containing 1 176 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) TAGGTGCCCACGGAGTGCAGG 0.632000 33 17 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179613753 179613753 + Silent SNP A A G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:179613753A>G ENST00000360870.5 - 46 13596 c.13374T>C c.(13372-13374)caT>caC p.H4458H TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 586 Ig-like 24. 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) CGATAATTCTATGCTTCACCT 0.343000 54 15 0 0 1 0 0 PSPH 5723 broad.mit.edu 37 7 56085002 56085002 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr7:56085002C>T ENST00000395471.3 - 6 1151 c.346G>A c.(346-348)Gta>Ata p.V116I PSPH_ENST00000275605.3_Missense_Mutation_p.V116I|PSPH_ENST00000459834.1_Intron P78330 SERB_HUMAN phosphoserine phosphatase 116 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity p.V116I(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACATGCTCTACAATACTCCTA 0.393000 6 420 0 0 1 0 0 TMEM107 84314 broad.mit.edu 37 17 8077910 8077910 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:8077910G>A ENST00000316425.5 - 4 411 c.299C>T c.(298-300)tCc>tTc p.S100F TMEM107_ENST00000533070.1_Missense_Mutation_p.S100F|TMEM107_ENST00000437139.2_Missense_Mutation_p.S94F|TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000532998.1_3'UTR|TMEM107_ENST00000449985.2_Intron NM_032354.3 NP_115730.2 Q6UX40 TM107_HUMAN transmembrane protein 107 94 integral to membrane large_intestine(1)|lung(4)|ovary(1) 6 CAGGGCCACGGATGCACTACA 0.507000 108 40 0 0 1 0 0 FGF1 2246 broad.mit.edu 37 5 141974875 141974875 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr5:141974875G>T ENST00000359370.6 - 4 527 c.448C>A c.(448-450)Ctg>Atg p.L150M FGF1_ENST00000337706.2_Missense_Mutation_p.L150M|FGF1_ENST00000378046.1_Missense_Mutation_p.L150M|FGF1_ENST00000494579.1_5'UTR|FGF1_ENST00000419524.2_Missense_Mutation_p.L150M|AC005592.2_ENST00000414314.1_RNA|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000407758.1_3'UTR|FGF1_ENST00000360966.5_3'UTR NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2 NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1 P05230 FGF1_HUMAN fibroblast growth factor 1 (acidic) 150 angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter cell cortex|cytosol|extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding large_intestine(1)|lung(2) 3 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Pentosan Polysulfate(DB00686) GAGACTGGCAGGGGGAGAAAC 0.498000 32 11 8.16721e-17 9.73605e-17 1 1 0 TIAM2 26230 broad.mit.edu 37 6 155578022 155578022 + Missense_Mutation SNP C C G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr6:155578022C>G ENST00000461783.3 + 29 6146 c.4873C>G c.(4873-4875)Ccc>Gcc p.P1625A TIAM2_ENST00000456144.1_Missense_Mutation_p.P1654A|TIAM2_ENST00000529824.2_Missense_Mutation_p.P1654A|TIAM2_ENST00000367174.2_Missense_Mutation_p.P1001A|TIAM2_ENST00000275246.7_Missense_Mutation_p.P550A|TIAM2_ENST00000318981.5_Missense_Mutation_p.P1625A|TIAM2_ENST00000456877.2_Missense_Mutation_p.P937A|TIAM2_ENST00000528391.2_Missense_Mutation_p.P969A|TIAM2_ENST00000360366.4_Missense_Mutation_p.P1649A Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1625 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGGAGAGCAGCCCAAACTGGT 0.597000 36 37 0 0 1 0 0 CMTR1 23070 broad.mit.edu 37 6 37411926 37411926 + Splice_Site SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr6:37411926G>A ENST00000373451.4 + 3 449 c.285_splice c.e3+1 p.M95_splice NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 95 G-patch. mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 AGAAGCTTATGGTATGTCAGC 0.438000 98 47 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99722114 99722114 + Missense_Mutation SNP C C G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:99722114C>G ENST00000393483.3 - 8 1101 c.257G>C c.(256-258)tGt>tCt p.C86S TSGA10_ENST00000410001.1_Missense_Mutation_p.C86S|TSGA10_ENST00000542655.1_Missense_Mutation_p.C86S|TSGA10_ENST00000539964.1_Missense_Mutation_p.C86S|TSGA10_ENST00000355053.4_Missense_Mutation_p.C86S|TSGA10_ENST00000478090.1_5'UTR NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 86 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 AGGACTCTTACAGCTTTTCAT 0.393000 7 235 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57746271 57746271 + Nonsense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:57746271C>A ENST00000269122.3 + 14 2536 c.2262C>A c.(2260-2262)taC>taA p.Y754* CLTC_ENST00000393043.1_Nonsense_Mutation_p.Y754*|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 754 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GCAACTGCTACGATCCTGAGC 0.408000 T """ALK, TFE3""" """ALCL, renal """ 43 80 2.40228e-13 2.78506e-13 1 1 0 NCAM1 4684 broad.mit.edu 37 11 113075082 113075082 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:113075082C>T ENST00000316851.7 + 2 172 c.172C>T c.(172-174)Cgg>Tgg p.R58W NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.R67W|NCAM1_ENST00000533760.1_5'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 68 Ig-like C2-type 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AAACCAGCAGCGGATCTCAGT 0.488000 15 16 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155507514 155507514 + Missense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr4:155507514C>A ENST00000302053.3 - 5 1145 c.1067G>T c.(1066-1068)aGt>aTt p.S356I FGA_ENST00000403106.3_Missense_Mutation_p.S356I NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 356 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GGTTCCGGTACTACCAGGTCT 0.557000 62 30 3.37043e-27 4.1833e-27 1 1 0 CDH19 28513 broad.mit.edu 37 18 64176456 64176456 + Missense_Mutation SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr18:64176456C>A ENST00000262150.2 - 11 1896 c.1604G>T c.(1603-1605)aGa>aTa p.R535I CDH19_ENST00000540086.1_Intron NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 535 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) AAAACCAGTTCTATTAGTCAA 0.353000 14 51 0.000151284 0.000159605 1 1 0 GYG1 2992 broad.mit.edu 37 3 148727132 148727132 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr3:148727132C>T ENST00000345003.4 + 5 851 c.551C>T c.(550-552)cCg>cTg p.P184L GYG1_ENST00000484197.1_Missense_Mutation_p.P184L|GYG1_ENST00000483267.1_Intron|GYG1_ENST00000296048.6_Missense_Mutation_p.P184L|GYG1_ENST00000479119.1_3'UTR NM_004130.3 NP_004121.2 P46976 GLYG_HUMAN glycogenin 1 184 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AAACACCTGCCGTTTATTTAT 0.378000 5 345 0 0 1 0 0 TRBV11-1 28582 broad.mit.edu 37 7 142223833 142223833 + RNA SNP C C A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr7:142223833C>A ENST00000390367.3 - 0 350 AAGCTGCTGGCACAGAGATAC 0.532000 4 162 0.0215528 0.0218636 1 1 0 LOXL2 4017 broad.mit.edu 37 8 23198591 23198591 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr8:23198591G>T ENST00000389131.3 - 4 1026 c.657C>A c.(655-657)gaC>gaA p.D219E RP11-177H13.2_ENST00000519692.1_RNA NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 219 SRCR 2. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) TCCAGTGCTTGTCACAGATCT 0.557000 64 130 5.00936e-31 6.25429e-31 1 1 0 SYT7 9066 broad.mit.edu 37 11 61295549 61295549 + Missense_Mutation SNP C C T rs382505 TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:61295549C>T ENST00000263846.4 - 5 787 c.460G>A c.(460-462)Gtg>Atg p.V154M SYT7_ENST00000535826.1_Missense_Mutation_p.V273M|SYT7_ENST00000542836.1_Missense_Mutation_p.V198M|SYT7_ENST00000540677.1_Missense_Mutation_p.V229M|SYT7_ENST00000539008.1_Missense_Mutation_p.V437M|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542670.1_Missense_Mutation_p.V362M NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 154 C2 1. V -> L (in Ref. 1; AAB92667). cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 ATGATCTTCACGGTGAGCGTG 0.612000 27 74 0 0 1 0 0 FSCN1 6624 broad.mit.edu 37 7 5643496 5643496 + Missense_Mutation SNP G G C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr7:5643496G>C ENST00000382361.3 + 4 1228 c.1114G>C c.(1114-1116)Gac>Cac p.D372H FSCN1_ENST00000340250.6_Missense_Mutation_p.D351H NM_003088.3 NP_003079.1 Q16658 FSCN1_HUMAN fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 372 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) TGGGACAGGGGACTCAGAGCT 0.642000 34 38 0 0 1 0 0 TCTN1 79600 broad.mit.edu 37 12 111064170 111064170 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr12:111064170C>T ENST00000551590.1 + 3 501 c.345C>T c.(343-345)ggC>ggT p.G115G TCTN1_ENST00000397659.4_Silent_p.G115G|TCTN1_ENST00000397655.3_Silent_p.G115G|TCTN1_ENST00000471804.2_Silent_p.G115G|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000550703.2_Silent_p.G115G|TCTN1_ENST00000377654.3_5'UTR Q2MV58 TECT1_HUMAN tectonic family member 1 115 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 ttttCAGGGGCGACAGCCAGT 0.318000 4 5 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83810035 83810035 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr11:83810035C>T ENST00000398309.2 - 5 835 c.365G>A c.(364-366)gGa>gAa p.G122E DLG2_ENST00000543673.1_Missense_Mutation_p.G227E|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000532653.1_Missense_Mutation_p.G122E|DLG2_ENST00000524982.1_Missense_Mutation_p.G122E|DLG2_ENST00000376104.2_Missense_Mutation_p.G227E|DLG2_ENST00000531015.1_Missense_Mutation_p.G89E|DLG2_ENST00000418306.2_Missense_Mutation_p.G71E|DLG2_ENST00000280241.8_Missense_Mutation_p.G161E|DLG2_ENST00000330014.6_Missense_Mutation_p.G61E|DLG2_ENST00000398301.2_Missense_Mutation_p.G161E|DLG2_ENST00000376106.3_5'UTR NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 122 PDZ 1. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AGGGTCATCTCCAATGTGGGG 0.423000 4 73 0 0 1 0 0 HADHA 3030 broad.mit.edu 37 2 26416519 26416519 + Silent SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:26416519G>T ENST00000380649.3 - 17 1941 c.1812C>A c.(1810-1812)ggC>ggA p.G604G NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 604 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) CAAAGACTTTGCCCAGATCTT 0.527000 9 359 1.76689e-08 1.96218e-08 1 1 0 NDUFV3 4731 broad.mit.edu 37 21 44329071 44329071 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr21:44329071C>T ENST00000354250.2 + 4 1431 c.1362C>T c.(1360-1362)ctC>ctT p.L454L NDUFV3_ENST00000340344.3_Silent_p.L89L|NDUFV3_ENST00000460259.1_3'UTR NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 89 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) ACCTCAACCTCGAACTCTCAA 0.552000 5 153 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49901254 49901254 + Silent SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:49901254C>T ENST00000447857.3 + 7 688 c.483C>T c.(481-483)gaC>gaT p.D161D NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 161 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 CCACAGCTGACCTGCTGAGCA 0.612000 16 10 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70961531 70961531 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr15:70961531C>T ENST00000322954.6 - 16 1677 c.1492G>A c.(1492-1494)Gca>Aca p.A498T UACA_ENST00000560441.1_Missense_Mutation_p.A483T|UACA_ENST00000379983.2_Missense_Mutation_p.A485T|UACA_ENST00000539319.1_Missense_Mutation_p.A389T NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 498 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 TCTTTTAATGCATCTTCTAAT 0.378000 139 126 0 0 1 0 0 ACTR1B 10120 broad.mit.edu 37 2 98273920 98273920 + Silent SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:98273920G>A ENST00000289228.5 - 9 1194 c.978C>T c.(976-978)atC>atT p.I326I NM_005735.3 NP_005726.1 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, centractin beta (yeast) 326 centrosome|dynactin complex ATP binding|protein binding endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15 CCTTGATTTTGATATCCTTTG 0.582000 101 147 0 0 1 0 0 CCDC142 84865 broad.mit.edu 37 2 74709145 74709145 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:74709145G>T ENST00000393965.3 - 1 1216 c.820C>A c.(820-822)Ctg>Atg p.L274M CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.L274M NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 274 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 CCTGGTAGCAGATCCCCCTCC 0.697000 15 45 2.23348e-06 2.40441e-06 1 1 0 SRRM4 84530 broad.mit.edu 37 12 119583391 119583391 + Missense_Mutation SNP A A G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr12:119583391A>G ENST00000267260.4 + 9 1365 c.977A>G c.(976-978)aAc>aGc p.N326S NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 326 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 AACAGTGGCAACACCTCTGAT 0.627000 13 10 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154600401 154600401 + Missense_Mutation SNP A A C TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr1:154600401A>C ENST00000292205.5 - 1 73 c.74T>G c.(73-75)gTg>gGg p.V25G ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR NM_001025107.2|NM_001193495.1 NP_001020278.1|NP_001180424.1 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 0 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CCCTCCCCCCACCCTCCCCCA 0.642000 8 48 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106876282 106876282 + Silent SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr9:106876282G>A ENST00000286398.7 + 12 1740 c.1452G>A c.(1450-1452)caG>caA p.Q484Q SMC2_ENST00000303219.8_Silent_p.Q484Q|SMC2_ENST00000374787.3_Silent_p.Q484Q|SMC2_ENST00000374793.3_Silent_p.Q484Q NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 484 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 AGCGCAGGCAGCTGTCTCGTG 0.348000 10 163 0 0 1 0 0 EIF2B5 8893 broad.mit.edu 37 3 183860047 183860047 + Missense_Mutation SNP C C T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr3:183860047C>T ENST00000273783.3 + 9 1447 c.1325C>T c.(1324-1326)aCg>aTg p.T442M EIF2B5_ENST00000444495.1_Missense_Mutation_p.T442M NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 442 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding p.T442M(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CCAAATATCACGCTGCCTGAG 0.483000 5 312 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11346520 11346520 + Missense_Mutation SNP C C G TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr5:11346520C>G ENST00000304623.8 - 9 1781 c.1592G>C c.(1591-1593)aGg>aCg p.R531T CTNND2_ENST00000511377.1_Missense_Mutation_p.R440T|CTNND2_ENST00000503622.1_Missense_Mutation_p.R194T|CTNND2_ENST00000458100.2_Missense_Mutation_p.R98T|CTNND2_ENST00000359640.2_Missense_Mutation_p.R531T|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 531 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding 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 GGACGGGGACCTGGCCAAGGT 0.498000 34 89 0 0 1 0 0 KPNA2 3838 broad.mit.edu 37 17 66039262 66039262 + Missense_Mutation SNP G G A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:66039262G>A ENST00000537025.2 + 7 1333 c.713G>A c.(712-714)cGc>cAc p.R238H KPNA2_ENST00000330459.3_Missense_Mutation_p.R238H P52292 IMA2_HUMAN karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 238 NLS binding site (major) (By similarity). DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) AATCTTTGCCGCAACAAGAAT 0.453000 6 576 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16742741 16742741 + Missense_Mutation SNP G G A rs140297141 TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr2:16742741G>A ENST00000381323.3 - 7 716 c.496C>T c.(496-498)Cgc>Tgc p.R166C FAM49A_ENST00000406434.1_Missense_Mutation_p.R166C|FAM49A_ENST00000355549.2_Missense_Mutation_p.R166C NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 166 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) TTGTTGATGCGGTTGCGACTG 0.483000 5 79 0 0 1 0 0 CCL4L1 9560 broad.mit.edu 37 17 34539766 34539766 + Missense_Mutation SNP A A T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:34539766A>T ENST00000378350.4 + 3 440 c.222A>T c.(220-222)agA>agT p.R74S CCL4L1_ENST00000591637.1_Missense_Mutation_p.S85C|CCL4L1_ENST00000389068.5_Intron|CCL4L1_ENST00000591167.1_Splice_Site_p.V64_splice|CCL4L1_ENST00000444414.1_Intron|CCL4L1_ENST00000589336.1_3'UTR|CCL4L1_ENST00000378352.4_Intron|CCL4L1_ENST00000588929.1_Intron|CCL4L1_ENST00000586598.1_3'UTR|CCL4L1_ENST00000400702.4_Missense_Mutation_p.S50C|CCL4L1_ENST00000589079.1_Missense_Mutation_p.R81S|CCL4L1_ENST00000358756.5_Intron chemokine (C-C motif) ligand 4-like 1 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) catccaccagagctgccccac 0.557000 5 9 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26885845 26885846 + Frame_Shift_Del DEL CG CG - TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr5:26885845_26885846delCG ENST00000231021.4 - 11 1931_1932 c.1759_1760delCG c.(1759-1761)tfs p.R587fs NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 587 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GGCACACACACGGATAGTGAGT 0.480 17 32 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114292109 114292110 + In_Frame_Ins INS - - CTG TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr6:114292109_114292110insCTG ENST00000398283.2 - 1 249_250 c.245_246insCAG c.(244-246)aag>aCAGag p.82_82K>TE HDAC2_ENST00000519065.1_5'UTR|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000449620.2_RNA|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000436876.2_RNA|RP3-399L15.3_ENST00000519104.1_RNA NM_001527.3 NP_001518.3 Q92769 HDAC2_HUMAN histone deacetylase 2 0 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GGCTCCTCCTCctgctgctgct 0.688 4 6 --- --- --- --- XPO4 64328 broad.mit.edu 37 13 21396296 21396297 + Frame_Shift_Ins INS - - AA TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr13:21396296_21396297insAA ENST00000400602.2 - 8 1007_1008 c.972_973insTT c.(970-975)atagggfs p.G325fs XPO4_ENST00000255305.6_Frame_Shift_Ins_p.G325fs NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 325 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AGTAATCCCTCAATGAAGTGTG 0.416 11 87 --- --- --- --- FAM63B 54629 broad.mit.edu 37 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr15:59144132_59144134delGCT ENST00000559228.1 + 8 1787_1789 c.1705_1707delGCT c.(1705-1707)del p.A574del FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 574 Gln-rich. central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 ACAAGCAGCAGCTGCTGCTGCTG 0.468 8 128 --- --- --- --- TMEM132E 124842 broad.mit.edu 37 17 32957035 32957035 + Frame_Shift_Del DEL G G - TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr17:32957035delG ENST00000321639.5 + 6 1405 c.1077delG c.(1075-1077)gafs p.E359fs NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 359 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) AGGACACAGAGATCATCAACA 0.622 17 34 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9049102 9049103 + Frame_Shift_Ins INS - - A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:9049102_9049103insA ENST00000397910.4 - 5 32731_32732 c.32528_32529insT c.(32527-32529)tcafs p.S10843fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10845 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATTTACTATGGAAAAAAATGGA 0.490 72 196 --- --- --- --- HNRNPL 3191 broad.mit.edu 37 19 39330750 39330751 + Frame_Shift_Ins INS - - A TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr19:39330750_39330751insA ENST00000221419.5 - 8 1584_1585 c.1218_1219insT c.(1216-1221)tagcaafs p.*Q406fs AC104534.3_ENST00000594769.1_Frame_Shift_Ins_p.S23fs|HNRNPL_ENST00000600873.1_Frame_Shift_Ins_p.*Q273fs NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 406 RRM 3. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) TCCACATTGCCATATAAGCAGA 0.569 76 104 --- --- --- --- CCDC157 550631 broad.mit.edu 37 22 30768235 30768237 + In_Frame_Del DEL AGG AGG - TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr22:30768235_30768237delAGG ENST00000405659.1 + 7 2004_2006 c.1295_1297delAGG c.(1294-1299)aag>a p.KE432del CCDC157_ENST00000338306.3_In_Frame_Del_p.KE432del Q569K6 CC157_HUMAN coiled-coil domain containing 157 432 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 GAGCTGGATAAGGAGAAGGCCCG 0.665 7 5 --- --- --- --- RABL2B 11158 broad.mit.edu 37 22 51207956 51207957 + Frame_Shift_Ins INS - - T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 30edd8e9-a4a0-44b1-9d9d-9729d1d43180 4f78ee17-151d-4359-b464-8cda333d247c g.chr22:51207956_51207957insT ENST00000395595.3 - 8 900_901 c.433_434insA c.(433-435)cttfs p.L145fs RABL2B_ENST00000395598.3_Frame_Shift_Ins_p.L144fs|RABL2B_ENST00000354869.3_Frame_Shift_Ins_p.L145fs|RABL2B_ENST00000395593.3_Frame_Shift_Ins_p.L144fs|RABL2B_ENST00000435118.1_Frame_Shift_Ins_p.L144fs|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000395591.1_Frame_Shift_Ins_p.L81fs NM_001130921.1 NP_001124393.1 Q9UNT1 RBL2B_HUMAN RAB, member of RAS oncogene family-like 2B 144 small GTPase mediated signal transduction GTP binding|GTPase activity lung(1) 1 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247) AAAATTGAAGCTTTTTTGGGTC 0.515 10 112 --- --- --- ---