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 C16orf82 0 broad.mit.edu 37 16 27078584 27078584 + RNA SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr16:27078584G>A ENST00000505035.1 + 0 557 RP11-673P17.2_ENST00000565783.1_RNA Q7Z2V1 TNT_HUMAN CCTGAGCAGCGGGTACGCAGG 0.642000 14 15 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129121699 129121699 + Nonsense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr4:129121699C>T ENST00000326639.6 + 17 2399 c.2188C>T c.(2188-2190)Cag>Tag p.Q730* LARP1B_ENST00000441387.1_Nonsense_Mutation_p.Q730*|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000354456.3_Nonsense_Mutation_p.Q149*|LARP1B_ENST00000264584.5_Nonsense_Mutation_p.Q671* NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 730 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 GGGAATTGGTCAGTCCCAAGA 0.303000 10 17 0 0 1 0 0 TIGD2 166815 broad.mit.edu 37 4 90034422 90034422 + Silent SNP A A G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr4:90034422A>G ENST00000317005.2 + 1 455 c.297A>G c.(295-297)ggA>ggG p.G99G NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 99 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) CAGTGTCCGGAACGATTTGTG 0.418000 11 118 0 0 1 0 0 HIPK2 28996 broad.mit.edu 37 7 139285234 139285234 + Silent SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr7:139285234G>A ENST00000406875.3 - 11 2458 c.2364C>T c.(2362-2364)gcC>gcT p.A788A HIPK2_ENST00000342645.6_Silent_p.A788A|HIPK2_ENST00000428878.2_Silent_p.A761A NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 788 Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GCATCACGTGGGCCACACCCA 0.567000 14 56 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70252229 70252229 + Silent SNP C C A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr7:70252229C>A ENST00000342771.4 + 18 2664 c.2343C>A c.(2341-2343)ccC>ccA p.P781P AUTS2_ENST00000406775.2_Silent_p.P757P NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 781 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) AGGATGGCCCCAGTGTGCAGA 0.532000 13 37 2.31682e-05 2.35973e-05 1 1 0 ZNF512 84450 broad.mit.edu 37 2 27822524 27822524 + Nonsense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr2:27822524C>T ENST00000355467.4 + 4 435 c.352C>T c.(352-354)Cag>Tag p.Q118* ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000413371.2_Nonsense_Mutation_p.Q41*|ZNF512_ENST00000379717.1_Nonsense_Mutation_p.Q117*|ZNF512_ENST00000416005.2_Nonsense_Mutation_p.Q117*|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_Silent_p.L28L Q96ME7 ZN512_HUMAN zinc finger protein 512 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) AGAATTTCCTCAGAAGAAGCA 0.418000 10 47 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193380716 193380716 + Missense_Mutation SNP C C G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr3:193380716C>G ENST00000361510.2 + 26 2860 c.2626C>G c.(2626-2628)Ctt>Gtt p.L876V OPA1_ENST00000392438.3_Missense_Mutation_p.L821V|OPA1_ENST00000361828.2_Missense_Mutation_p.L839V|OPA1_ENST00000361715.2_Missense_Mutation_p.L840V|OPA1_ENST00000361908.3_Missense_Mutation_p.L858V|OPA1_ENST00000361150.2_Missense_Mutation_p.L822V NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 821 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) CCGGAAGAACCTTGAATCCCG 0.388000 17 59 0 0 1 0 0 SLAIN2 57606 broad.mit.edu 37 4 48371866 48371866 + Splice_Site SNP G G T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr4:48371866G>T ENST00000264313.6 + 2 808 c.389_splice c.e2-1 p.W130_splice SLAIN2_ENST00000506375.1_3'UTR NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 130 centrosome breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 CTTCTTCTAGGCTGTATTCAT 0.373000 15 57 1.37285e-15 1.48053e-15 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105416337 105416337 + Silent SNP A A C TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr14:105416337A>C ENST00000333244.5 - 7 5570 c.5451T>G c.(5449-5451)acT>acG p.T1817T AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1817 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGTCTTTGGCAGTCACATCCT 0.612000 7 6 0 0 1 0 0 TSPAN12 23554 broad.mit.edu 37 7 120455842 120455842 + Missense_Mutation SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr7:120455842G>A ENST00000222747.3 - 5 908 c.301C>T c.(301-303)Ctt>Ttt p.L101F TSPAN12_ENST00000415871.1_Missense_Mutation_p.L101F NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 101 L -> H (in EVR5). angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) AAAATGACAAGCAAACTTCCA 0.343000 4 34 0 0 1 0 0 DYNC1LI1 51143 broad.mit.edu 37 3 32571120 32571120 + Silent SNP T T G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr3:32571120T>G ENST00000273130.4 - 11 1321 c.1218A>C c.(1216-1218)ccA>ccC p.P406P DYNC1LI1_ENST00000432458.2_Silent_p.P290P NM_016141.3 NP_057225.2 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 1 406 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity kidney(2)|large_intestine(1)|lung(3)|ovary(1) 7 TTGGTGTTCGTGGGGAGCCTC 0.373000 5 17 0 0 1 0 0 SMARCA5 8467 broad.mit.edu 37 4 144466687 144466687 + Missense_Mutation SNP A A T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr4:144466687A>T ENST00000283131.3 + 18 2810 c.2348A>T c.(2347-2349)gAa>gTa p.E783V NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 783 CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) CGTTTATTTGAATTACTGGAA 0.328000 15 59 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103180802 103180802 + Missense_Mutation SNP A A G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr7:103180802A>G ENST00000424685.2 - 44 6931 c.6772T>C c.(6772-6774)Tgg>Cgg p.W2258R RELN_ENST00000343529.5_Missense_Mutation_p.W2258R|RELN_ENST00000428762.1_Missense_Mutation_p.W2258R P78509 RELN_HUMAN reelin 2258 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGAAGACTCCACGAGAGGCCA 0.517000 21 102 0 0 1 0 0 ITFG3 83986 broad.mit.edu 37 16 314964 314964 + Silent SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr16:314964C>T ENST00000399932.3 + 13 2053 c.1602C>T c.(1600-1602)gaC>gaT p.D534D ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301678.3_Silent_p.D534D|ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000301679.2_Intron Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 534 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) GTGGGCCAGACAGTGACCAAG 0.652000 14 61 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101198104 101198104 + Silent SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr1:101198104C>T ENST00000294728.2 + 7 1757 c.1656C>T c.(1654-1656)aaC>aaT p.N552N VCAM1_ENST00000347652.2_Silent_p.N460N|VCAM1_ENST00000370115.1_Silent_p.N353N|VCAM1_ENST00000370119.4_Silent_p.N490N NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 552 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AGCTCCCTAACGGGGAGCTAC 0.483000 17 72 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34137219 34137219 + Missense_Mutation SNP A A G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr15:34137219A>G ENST00000389232.4 + 93 13523 c.13453A>G c.(13453-13455)Acc>Gcc p.T4485A RYR3_ENST00000415757.3_Missense_Mutation_p.T4480A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 4485 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CATCATCCATACCATCATCTC 0.498000 13 66 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37941263 37941263 + Missense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr1:37941263C>T ENST00000373087.6 + 2 282 c.166C>T c.(166-168)Cgg>Tgg p.R56W NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 56 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGACTTCTTCCGGAAGCTGGG 0.632000 12 49 0 0 1 0 0 C10orf137 26098 broad.mit.edu 37 10 127441484 127441484 + Splice_Site SNP G G C TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr10:127441484G>C ENST00000337623.3 + 22 3396 c.e22+1 C10orf137_ENST00000356792.4_Splice_Site NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) ATTTGGCCAGGTACATGGAGA 0.403000 29 47 0 0 1 0 0 PARK7 0 broad.mit.edu 37 1 8025453 8025453 + Missense_Mutation SNP C C G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr1:8025453C>G ENST00000493678.1 + 3 227 c.160C>G c.(160-162)Cct>Gct p.P54A PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Missense_Mutation_p.P54A|PARK7_ENST00000338639.5_Missense_Mutation_p.P54A|PARK7_ENST00000377493.5_Missense_Mutation_p.P54A|PARK7_ENST00000377491.1_Missense_Mutation_p.P54A Q99497 PARK7_HUMAN parkinson protein 7 54 autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization mitochondrion|nucleus mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity large_intestine(1) 1 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649) GGTCATTTGTCCTGATGCCAG 0.408000 15 48 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127710364 127710364 + Silent SNP A A G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr5:127710364A>G ENST00000508053.1 - 21 3026 c.2052T>C c.(2050-2052)tgT>tgC p.C684C FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000508989.1_Silent_p.C651C|FBN2_ENST00000262464.4_Silent_p.C684C P35556 FBN2_HUMAN fibrillin 2 684 EGF-like 10; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGCCTGGGGGACAGTCACAGC 0.502000 24 68 0 0 1 0 0 LMAN1 3998 broad.mit.edu 37 18 57020490 57020490 + Missense_Mutation SNP G G T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr18:57020490G>T ENST00000251047.5 - 5 1300 c.583C>A c.(583-585)Cgc>Agc p.R195S NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 195 L-type lectin-like. blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) GGTTTGTTGCGGAAGTCCCTC 0.403000 23 99 1.10923e-09 1.17323e-09 1 1 0 SNHG14 0 broad.mit.edu 37 15 25333773 25333773 + RNA SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr15:25333773G>A ENST00000546682.1 + 0 586 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 GGCATGGAGGGCAGGCACATG 0.552000 3 14 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135015083 135015083 + Missense_Mutation SNP A A G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr10:135015083A>G ENST00000304613.3 + 17 3089 c.3068A>G c.(3067-3069)gAc>gGc p.D1023G KNDC1_ENST00000368571.2_Missense_Mutation_p.D958G|KNDC1_ENST00000368572.2_Missense_Mutation_p.D1025G Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1023 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GTGGACTCGGACGCACTGTCA 0.622000 16 74 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32712725 32712725 + Missense_Mutation SNP C C A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr2:32712725C>A ENST00000421745.2 + 41 7959 c.7825C>A c.(7825-7827)Ccc>Acc p.P2609T NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2609 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) ATCACAGTCTCCCACTGGAAC 0.328000 25 85 3.01185e-09 3.1255e-09 1 1 0 ARL4C 10123 broad.mit.edu 37 2 235405080 235405080 + Nonsense_Mutation SNP T T A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr2:235405080T>A ENST00000390645.2 - 1 617 c.151A>T c.(151-153)Aag>Tag p.K51* ARL4C_ENST00000339728.3_Nonsense_Mutation_p.K51* NM_005737.3 NP_005728.2 P56559 ARL4C_HUMAN ADP-ribosylation factor-like 4C 51 endocytic recycling|small GTPase mediated signal transduction cytoplasm|filopodium|nucleus|plasma membrane alpha-tubulin binding|GTP binding|GTPase activity endometrium(1)|ovary(1)|skin(1)|urinary_tract(1) 4 Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173) Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048) AGCTTGATCTTCTCGGTGTTG 0.622000 14 55 0 0 1 0 0 MEGF9 1955 broad.mit.edu 37 9 123367897 123367897 + Silent SNP T T C TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr9:123367897T>C ENST00000373930.3 - 6 1491 c.1380A>G c.(1378-1380)gaA>gaG p.E460E MEGF9_ENST00000426959.1_Silent_p.E497E NM_001080497.2 NP_001073966.2 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 460 integral to membrane calcium ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 16 TGGTAGAACCTTCAGGTGTTG 0.353000 3 9 0 0 1 0 0 ATIC 471 broad.mit.edu 37 2 216211488 216211488 + Missense_Mutation SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr2:216211488G>A ENST00000435675.1 + 13 1715 c.1324G>A c.(1324-1326)Ggc>Agc p.G442S ATIC_ENST00000236959.9_Missense_Mutation_p.G443S|ATIC_ENST00000540518.1_Missense_Mutation_p.G384S P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 443 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) TCAGGTTATCGGCATTGGAGC 0.433000 T ALK ALCL 36 139 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169489881 169489881 + Missense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr1:169489881C>T ENST00000367796.3 - 22 6286 c.6085G>A c.(6085-6087)Gcc>Acc p.A2029T F5_ENST00000367797.3_Missense_Mutation_p.A2024T P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 2024 F5/8 type C 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ATTGTAGAGGCATCTGAATTG 0.323000 9 47 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129518743 129518743 + Missense_Mutation SNP C C G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chrX:129518743C>G ENST00000276218.2 - 1 768 c.679G>C c.(679-681)Gtg>Ctg p.V227L NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 227 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 AGAACAGACACAGTACGGAGA 0.547000 27 20 0 0 1 0 0 LHX3 8022 broad.mit.edu 37 9 139091725 139091725 + Splice_Site SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr9:139091725G>A ENST00000371746.3 - 3 386 c.266_splice c.e3-1 p.R90_splice LHX3_ENST00000371748.5_Splice_Site_p.R85_splice NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 85 LIM zinc-binding 2. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) GTCCCGAAGCGCCTGCGGGAC 0.721000 3 7 0 0 1 0 0 BBS4 585 broad.mit.edu 37 15 73029880 73029880 + Silent SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr15:73029880G>A ENST00000268057.4 + 16 1553 c.1512G>A c.(1510-1512)gcG>gcA p.A504A BBS4_ENST00000395205.2_Silent_p.A512A|BBS4_ENST00000539603.1_Silent_p.A492A|BBS4_ENST00000542334.1_Silent_p.A332A NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 504 Required for localization to centrosomes. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 CAGAGCCTGCGGTGGAATCAA 0.443000 Bardet-Biedl syndrome 5 15 0 0 1 0 0 HNRNPC 3183 broad.mit.edu 37 14 21679710 21679710 + Missense_Mutation SNP T T C TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr14:21679710T>C ENST00000430246.2 - 7 3604 c.653A>G c.(652-654)gAt>gGt p.D218G HNRNPC_ENST00000555309.1_Missense_Mutation_p.D230G|HNRNPC_ENST00000554969.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D231G|HNRNPC_ENST00000320084.7_Missense_Mutation_p.D231G|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000553753.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000556628.1_Missense_Mutation_p.D151G|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D231G|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D175G|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D217G|HNRNPC_ENST00000336053.6_Missense_Mutation_p.D218G|HNRNPC_ENST00000553300.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D231G P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C (C1/C2) 231 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding breast(1)|liver(1)|lung(6)|skin(1) 9 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) TTCTGACTTATCATTCTTCAT 0.507000 7 6 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 408505 408505 + Silent SNP G G A TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr10:408505G>A ENST00000280886.6 - 22 2806 c.2719C>T c.(2719-2721)Ctg>Ttg p.L907L DIP2C_ENST00000540204.1_Silent_p.L228L|DIP2C_ENST00000381496.3_3'UTR NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 907 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CAGGGGTGCAGAGAGCCCTCC 0.537000 11 48 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52863587 52863587 + Missense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr12:52863587C>T ENST00000252250.6 - 7 1338 c.1291G>A c.(1291-1293)Gag>Aag p.E431K NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 431 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) AGGGCATCCTCCAGCCCTTCC 0.597000 18 66 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50217248 50217248 + Missense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr22:50217248C>T ENST00000216267.8 - 1 1204 c.718G>A c.(718-720)Gcc>Acc p.A240T BRD1_ENST00000457780.2_Missense_Mutation_p.A240T|BRD1_ENST00000404034.1_Missense_Mutation_p.A240T|BRD1_ENST00000404760.1_Missense_Mutation_p.A240T NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 240 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGGTGCACGGCCAGGTTGCAC 0.657000 9 22 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52941095 52941095 + Silent SNP C C G TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr1:52941095C>G ENST00000371544.3 - 13 2398 c.2136G>C c.(2134-2136)acG>acC p.T712T ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.T712T NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 712 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 TTCCACCCTTCGTCTGAGGAC 0.423000 27 103 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35927511 35927511 + Missense_Mutation SNP T T C TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr6:35927511T>C ENST00000490799.1 - 15 2064 c.1711A>G c.(1711-1713)Aag>Gag p.K571E SLC26A8_ENST00000355574.2_Missense_Mutation_p.K571E|SLC26A8_ENST00000394602.2_Missense_Mutation_p.K466E NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 571 STAS. cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 AGCTTATGCTTTAGGTAGTAA 0.473000 22 100 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200944676 200944676 + Missense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr1:200944676C>T ENST00000332129.2 - 32 4842 c.4526G>A c.(4525-4527)cGa>cAa p.R1509Q KIF21B_ENST00000360529.5_Missense_Mutation_p.R1509Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1522Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1522Q NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1522 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GCCGTTATCTCGGGAGCCACT 0.597000 18 56 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 8 117 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105660967 105660967 + Missense_Mutation SNP C C T TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr7:105660967C>T ENST00000542731.1 + 13 1910 c.1802C>T c.(1801-1803)tCt>tTt p.S601F CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.S601F|CDHR3_ENST00000478080.1_Missense_Mutation_p.S513F|CDHR3_ENST00000470188.1_Intron Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 601 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 AGCCCCAGATCTTTCCGTTAT 0.493000 19 61 0 0 1 0 0 TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 7 114 --- --- --- --- A1CF 29974 broad.mit.edu 37 10 52603796 52603796 + Frame_Shift_Del DEL T T - TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr10:52603796delT ENST00000395489.2 - 6 561 c.165delA c.(163-165)aafs p.K55fs A1CF_ENST00000373995.3_Frame_Shift_Del_p.K70fs|A1CF_ENST00000373993.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000374001.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000395495.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000282641.2_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373997.3_Frame_Shift_Del_p.K62fs NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 62 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CTCGGGGAAGTTTTCCAATAA 0.403 36 82 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46245168 46245168 + Frame_Shift_Del DEL A A - TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr12:46245168delA ENST00000334344.6 + 15 3434 c.3262delA c.(3262-3264)atfs p.N1089fs ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.N940fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.N699fs NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1089 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCCTCCCCCTAATAATGCAAG 0.522 """N, S, F""" hepatocellular carcinoma 30 111 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061220 38061228 + In_Frame_Del DEL CGTTCTCGA CGTTCTCGA - TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr14:38061220_38061228delCGTTCTCGA ENST00000250448.2 - 2 822_830 c.761_769delTCGAGAACG c.(760-771)tgc>t p.FENG254del FOXA1_ENST00000540786.1_In_Frame_Del_p.FENG221del|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 254 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) AAGTAGCAGCCGTTCTCGAACATGTTGCC 0.694 7 18 --- --- --- --- AC026495.1 0 broad.mit.edu 37 15 20563408 20563417 + RNA DEL CCTCTCCCTT CCTCTCCCTT - TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr15:20563408_20563417delCCTCTCCCTT ENST00000581090.1 + 0 48_57 CCTCCCAGAGcctctcccttcctctccctt 0.671 2 4 --- --- --- --- ABCA9 10350 broad.mit.edu 37 17 67016632 67016632 + Frame_Shift_Del DEL T T - TCGA-HC-7210-01A-11D-2114-08 TCGA-HC-7210-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1ed251d-bf15-4ec0-af02-0dc5e856907e d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57 g.chr17:67016632delT ENST00000340001.4 - 19 2708 c.2497delA c.(2497-2499)ggfs p.R833fs ABCA9_ENST00000453985.2_Frame_Shift_Del_p.R833fs|ABCA9_ENST00000370732.2_Frame_Shift_Del_p.R833fs NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 833 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) ATTGTTTTCCTTGTTTCGTGG 0.428 35 117 --- --- --- ---