Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SYNE1 23345 broad.mit.edu 37 6 152675920 152675920 + Silent SNP C C T rs114858512 byFrequency TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:152675920C>T ENST00000367255.5 - 67 11401 c.10800G>A c.(10798-10800)ttG>ttA p.L3600L SYNE1_ENST00000423061.1_Silent_p.L3607L|SYNE1_ENST00000341594.5_Silent_p.L3571L|SYNE1_ENST00000265368.4_Silent_p.L3600L|SYNE1_ENST00000448038.1_Silent_p.L3607L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3600 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCATTAGCCTCAATTTGTTCA 0.502000 HNSCC(10;0.0054) 17 60 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058669 152058669 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr1:152058669C>G ENST00000368806.1 - 3 1553 c.1489G>C c.(1489-1491)Gaa>Caa p.E497Q NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 497 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TGTGTTCTTTCTCTTGCCCCC 0.478000 33 168 0 0 1 0 0 STXBP5 134957 broad.mit.edu 37 6 147527160 147527160 + Silent SNP A A G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:147527160A>G ENST00000367481.3 + 2 312 c.204A>G c.(202-204)gtA>gtG p.V68V STXBP5_ENST00000321680.6_Silent_p.V68V|STXBP5_ENST00000367480.3_Silent_p.V68V|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Silent_p.V68V NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 68 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TTGATCCTGTACAGAAGATCC 0.463000 35 25 0 0 1 0 0 TRIM68 55128 broad.mit.edu 37 11 4621770 4621770 + Silent SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:4621770C>G ENST00000300747.5 - 7 1483 c.1194G>C c.(1192-1194)ctG>ctC p.L398L NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 398 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding p.L398L(1) breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TTCCCTTCCTCAGCCTTATCA 0.557000 12 41 0 0 1 0 0 PAIP1 10605 broad.mit.edu 37 5 43556029 43556029 + Missense_Mutation SNP A A T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr5:43556029A>T ENST00000306846.3 - 2 570 c.338T>A c.(337-339)aTg>aAg p.M113K PAIP1_ENST00000436644.2_Missense_Mutation_p.M34K|PAIP1_ENST00000338972.4_Start_Codon_SNP_p.M1K|PAIP1_ENST00000514514.1_Missense_Mutation_p.M34K NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 113 mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) GGGCTTAGCCATTGCTGACTC 0.473000 62 60 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121481797 121481797 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:121481797C>T ENST00000260197.7 + 39 5381 c.5252C>T c.(5251-5253)cCa>cTa p.P1751L SORL1_ENST00000534286.1_Missense_Mutation_p.P661L|SORL1_ENST00000532694.1_Missense_Mutation_p.P597L|SORL1_ENST00000527934.1_Missense_Mutation_p.P366L|SORL1_ENST00000525532.1_Missense_Mutation_p.P695L NM_003105.5 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1751 Fibronectin type-III 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ATCCCACCACCAGATATCCAC 0.418000 29 55 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48623808 48623808 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:48623808C>G ENST00000328333.8 - 26 3614 c.3507G>C c.(3505-3507)ttG>ttC p.L1169F COL7A1_ENST00000454817.1_Missense_Mutation_p.L1169F NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1169 Nonhelical region (NC1).|VWFA 2. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGTCACCTCTCAAGGGTTCAT 0.587000 68 200 0 0 1 0 0 CSPG5 10675 broad.mit.edu 37 3 47619161 47619161 + Missense_Mutation SNP C C A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:47619161C>A ENST00000383738.2 - 2 2453 c.355G>T c.(355-357)Gat>Tat p.D119Y CSPG5_ENST00000264723.4_Missense_Mutation_p.D119Y|CSPG5_ENST00000456150.1_5'UTR NM_001206943.1|NM_001206945.1 NP_001193872.1|NP_001193874.1 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan C) 119 cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCCTGGGCATCGCCGCTGCCC 0.692000 3 57 1 1 1 1 0 CDK5R1 8851 broad.mit.edu 37 17 30815244 30815244 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:30815244C>T ENST00000313401.3 + 2 1295 c.606C>T c.(604-606)gtC>gtT p.V202V NM_003885.2 NP_003876.1 Q15078 CD5R1_HUMAN cyclin-dependent kinase 5, regulatory subunit 1 (p35) 202 axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane cadherin binding|calcium ion binding|protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) CCAACGTGGTCTTCCTCTACA 0.642000 14 91 0 0 1 0 0 USP20 10868 broad.mit.edu 37 9 132620365 132620365 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:132620365G>A ENST00000315480.4 + 5 330 c.172G>A c.(172-174)Gct>Act p.A58T USP20_ENST00000358355.1_Missense_Mutation_p.A58T|USP20_ENST00000372429.3_Missense_Mutation_p.A58T Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 58 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) AGAATCCTTTGCTGACCACAG 0.562000 37 51 0 0 1 0 0 C11orf58 10944 broad.mit.edu 37 11 16774368 16774368 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:16774368C>G ENST00000228136.4 + 4 623 c.245C>G c.(244-246)tCt>tGt p.S82C C11orf58_ENST00000422258.2_Missense_Mutation_p.S38C|C11orf58_ENST00000525684.1_Missense_Mutation_p.L62V O00193 SMAP_HUMAN chromosome 11 open reading frame 58 82 NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1) 7 GAACTGGAGTCTCAATATCAG 0.348000 42 7 0 0 1 0 0 ZNF677 342926 broad.mit.edu 37 19 53740952 53740952 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr19:53740952C>G ENST00000333952.4 - 5 1193 c.1028G>C c.(1027-1029)gGa>gCa p.G343A ZNF677_ENST00000598513.1_Missense_Mutation_p.G343A Q86XU0 ZN677_HUMAN zinc finger protein 677 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) AGGTTTCTCTCCAGTATGCAT 0.388000 6 41 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122756598 122756598 + Missense_Mutation SNP C C A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:122756598C>A ENST00000227349.2 + 2 338 c.41C>A c.(40-42)tCt>tAt p.S14Y C11orf63_ENST00000531316.1_Missense_Mutation_p.S14Y|C11orf63_ENST00000307257.6_Missense_Mutation_p.S14Y NM_024806.2 NP_079082.2 Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 14 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) TCTATTCAATCTCCTGTCCTT 0.393000 21 63 4.26978e-12 4.71709e-12 1 1 0 TBX4 9496 broad.mit.edu 37 17 59534930 59534930 + Missense_Mutation SNP G G C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:59534930G>C ENST00000393853.4 + 3 382 c.219G>C c.(217-219)gaG>gaC p.E73D TBX4_ENST00000240335.1_Missense_Mutation_p.E73D P57082 TBX4_HUMAN T-box 4 73 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GGCTGCATGAGAAGGAGCTCT 0.597000 6 56 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42610592 42610592 + Silent SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr22:42610592G>A ENST00000359486.3 - 1 856 c.720C>T c.(718-720)tcC>tcT p.S240S TCF20_ENST00000335626.4_Silent_p.S240S NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 240 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 aggaggaggaggaAGCAGAAG 0.512000 3 45 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31332583 31332583 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr22:31332583C>T ENST00000397641.3 - 17 2060 c.1652G>A c.(1651-1653)aGa>aAa p.R551K MORC2_ENST00000215862.4_Missense_Mutation_p.R489K|MORC2_ENST00000469915.1_5'UTR Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 CATGTCCTTTCTGAATGTTCC 0.527000 9 70 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 54 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56093885 56093885 + Nonsense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr20:56093885G>A ENST00000608263.1 - 4 1649 c.988C>T c.(988-990)Cga>Tga p.R330* CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000608158.1_Nonsense_Mutation_p.R330*|CTCFL_ENST00000539382.1_Nonsense_Mutation_p.R125*|CTCFL_ENST00000608425.1_Nonsense_Mutation_p.R330*|CTCFL_ENST00000433949.3_Nonsense_Mutation_p.R125*|CTCFL_ENST00000481655.2_Nonsense_Mutation_p.R330*|CTCFL_ENST00000609232.1_Nonsense_Mutation_p.R330*|CTCFL_ENST00000371196.2_Nonsense_Mutation_p.R330*|CTCFL_ENST00000243914.3_Nonsense_Mutation_p.R330*|CTCFL_ENST00000432255.2_Nonsense_Mutation_p.R330*|CTCFL_ENST00000608903.1_Nonsense_Mutation_p.R68*|CTCFL_ENST00000502686.2_Nonsense_Mutation_p.R68*|CTCFL_ENST00000608440.1_Nonsense_Mutation_p.R330*|CTCFL_ENST00000429804.3_Nonsense_Mutation_p.R330*|CTCFL_ENST00000422869.2_Nonsense_Mutation_p.R330*|CTCFL_ENST00000423479.3_Nonsense_Mutation_p.R330* NM_001269041.1 NP_001255970.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CGCCTGTGTCGGACGAGTTCT 0.433000 7 96 0 0 1 0 0 GBP1P1 400759 broad.mit.edu 37 1 89889944 89889944 + RNA SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr1:89889944G>A ENST00000513638.1 + 0 685 NR_003133.2 AACTGACTGAGAAGATGGAGA 0.448000 47 107 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128807800 128807800 + Missense_Mutation SNP C C A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr4:128807800C>A ENST00000270861.5 + 5 1549 c.1275C>A c.(1273-1275)aaC>aaA p.N425K PLK4_ENST00000514379.1_Missense_Mutation_p.N384K|PLK4_ENST00000515069.1_Missense_Mutation_p.N425K|PLK4_ENST00000507249.1_Intron|PLK4_ENST00000513090.1_Missense_Mutation_p.N393K NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 425 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 CCACAGACAACAATGCCAACA 0.368000 3 37 0.004672 0.00492684 1 1 0 METTL21A 151194 broad.mit.edu 37 2 208477805 208477805 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr2:208477805C>T ENST00000411432.1 - 4 838 c.622G>A c.(622-624)Gaa>Aaa p.E208K METTL21A_ENST00000406927.2_Missense_Mutation_p.E208K|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000442521.1_Missense_Mutation_p.E208K|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000272839.3_Missense_Mutation_p.E226K|METTL21A_ENST00000426075.1_Missense_Mutation_p.E208K|METTL21A_ENST00000448007.2_Missense_Mutation_p.E208K NM_001127395.1 NP_001120867.1 Q8WXB1 MT21A_HUMAN methyltransferase like 21A 208 integral to membrane methyltransferase activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1) 10 TTCTGTGCTTCGTAAATATGT 0.368000 21 70 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34011221 34011221 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr21:34011221C>T ENST00000382499.2 - 31 4028 c.4029G>A c.(4027-4029)ccG>ccA p.P1343P SYNJ1_ENST00000433931.2_Silent_p.P1343P|SYNJ1_ENST00000322229.7_Silent_p.P1304P|SYNJ1_ENST00000357345.3_Silent_p.P1288P|SYNJ1_ENST00000382491.3_Silent_p.P1257P NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1304 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding p.P1304P(1) breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GACTTACTTGCGGTTGTGAGG 0.408000 4 147 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994845 143994845 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr8:143994845G>A ENST00000323110.2 - 6 979 c.977C>T c.(976-978)aCg>aTg p.T326M NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 326 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CTCAAAGAGCGTCATCAGCAA 0.627000 Familial Hyperaldosteronism type I 43 69 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146720574 146720574 + Missense_Mutation SNP C C A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:146720574C>A ENST00000392299.2 + 8 2869 c.2399C>A c.(2398-2400)gCt>gAt p.A800D GRM1_ENST00000507907.1_Missense_Mutation_p.A800D|GRM1_ENST00000492807.2_Missense_Mutation_p.A800D|GRM1_ENST00000282753.1_Missense_Mutation_p.A800D|GRM1_ENST00000361719.2_Missense_Mutation_p.A800D|GRM1_ENST00000355289.4_Missense_Mutation_p.A800D Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 800 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ATCTGGCTAGCTTTTGTGCCC 0.493000 26 69 2.47511e-08 2.68329e-08 1 1 0 FAM129A 116496 broad.mit.edu 37 1 184787960 184787960 + Splice_Site SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr1:184787960C>T ENST00000367511.3 - 9 1179 c.e9-1 FAM129A_ENST00000487074.1_Splice_Site NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GCCACCATCGCTGAGGTAGGA 0.562000 33 114 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19702051 19702051 + Missense_Mutation SNP G G T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chrX:19702051G>T ENST00000397821.3 - 6 906 c.616C>A c.(616-618)Cag>Aag p.Q206K SH3KBP1_ENST00000379698.4_Missense_Mutation_p.Q169K|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.Q250K NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 206 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 TTCTTGGGCTGGATTGCTGCA 0.488000 3 72 1 1 1 1 0 MPRIP 23164 broad.mit.edu 37 17 17083388 17083388 + Missense_Mutation SNP A A C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:17083388A>C ENST00000395811.5 + 22 3120 c.3031A>C c.(3031-3033)Aac>Cac p.N1011H MPRIP_ENST00000341712.4_Missense_Mutation_p.N1011H|MPRIP_ENST00000444976.1_Missense_Mutation_p.N973H|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Missense_Mutation_p.N1011H NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 1011 cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 GCAACTCAGAAACATCAGGTC 0.493000 5 25 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8449973 8449973 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:8449973C>T ENST00000360416.3 - 12 1305 c.1167G>A c.(1165-1167)caG>caA p.Q389Q MYH10_ENST00000269243.4_Silent_p.Q379Q|MYH10_ENST00000396239.1_Silent_p.Q379Q|MYH10_ENST00000379980.4_Silent_p.Q395Q NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 379 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 GGCAGAGCTTCTGCGCAACTG 0.418000 9 28 0 0 1 0 0 RFPL2 10739 broad.mit.edu 37 22 32589345 32589345 + Translation_Start_Site SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr22:32589345G>A ENST00000248980.4 - 0 121 RFPL2_ENST00000400236.3_Intron|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Intron|RFPL2_ENST00000400237.1_Intron NM_006605.3 NP_006596.2 O75678 RFPL2_HUMAN ret finger protein-like 2 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 CCCACCCCCCGTCTTCAGAGA 0.493000 3 27 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2413265 2413265 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr20:2413265C>T ENST00000202625.2 + 13 2158 c.2097C>T c.(2095-2097)atC>atT p.I699I TGM6_ENST00000381423.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 699 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GCTTTGTGATCGTCCATGTGG 0.567000 16 95 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187005188 187005188 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr4:187005188C>G ENST00000296795.3 + 4 2452 c.2348C>G c.(2347-2349)tCt>tGt p.S783C TLR3_ENST00000504367.1_Missense_Mutation_p.S506C NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 TIR. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) GAAGACCAATCTCTCAAATTT 0.353000 17 61 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1789016 1789016 + Silent SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr19:1789016C>G ENST00000539485.1 - 24 3212 c.2979G>C c.(2977-2979)ctG>ctC p.L993L ATP8B3_ENST00000525591.1_Silent_p.L946L|ATP8B3_ENST00000310127.6_Silent_p.L983L O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 983 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCGTGCACCAGCAGGAGGC 0.632000 5 11 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130485503 130485503 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:130485503C>T ENST00000373289.3 + 7 843 c.763C>T c.(763-765)Cgc>Tgc p.R255C PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000489226.1_3'UTR|TTC16_ENST00000393748.4_Missense_Mutation_p.R79C|PTRH1_ENST00000429848.1_Intron NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 255 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 CCAGCAGGCGCGCCAAGATGC 0.642000 45 6 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9018160 9018160 + Missense_Mutation SNP T T C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr19:9018160T>C ENST00000397910.4 - 25 37981 c.37778A>G c.(37777-37779)tAc>tGc p.Y12593C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12595 SEA 4. 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 GCAGCCAGAGTACAGAAGGCC 0.537000 29 99 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670421 131670421 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:131670421C>T ENST00000259324.5 + 3 1501 c.978C>T c.(976-978)atC>atT p.I326I LRRC8A_ENST00000372599.3_Silent_p.I326I|LRRC8A_ENST00000372600.4_Silent_p.I326I NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 326 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 CCTTCTACATCAGCCTAGTCA 0.567000 71 11 0 0 1 0 0 FKBP7 51661 broad.mit.edu 37 2 179343192 179343192 + Missense_Mutation SNP A A G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr2:179343192A>G ENST00000424785.2 - 1 93 c.35T>C c.(34-36)aTt>aCt p.I12T FKBP7_ENST00000434643.2_Missense_Mutation_p.I12T|FKBP7_ENST00000464248.1_5'UTR NM_001135212.1|NM_181342.2 NP_001128684.1|NP_851939.1 Q9Y680 FKBP7_HUMAN FK506 binding protein 7 12 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AAAGAAAACAATGAATCTGAA 0.493000 3 119 0 0 1 0 0 SMEK2 57223 broad.mit.edu 37 2 55791550 55791550 + Missense_Mutation SNP T T A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr2:55791550T>A ENST00000272313.5 - 13 2231 c.1904A>T c.(1903-1905)gAt>gTt p.D635V SMEK2_ENST00000407823.3_Missense_Mutation_p.D688V|SMEK2_ENST00000345102.5_Missense_Mutation_p.D720V NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 720 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CTCTTCTTCATCTTCATTAAA 0.358000 13 27 0 0 1 0 0 ARPC5L 81873 broad.mit.edu 37 9 127637310 127637310 + Silent SNP T T C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:127637310T>C ENST00000353214.2 + 5 1531 c.279T>C c.(277-279)atT>atC p.I93I ARPC5L_ENST00000259477.6_Silent_p.I93I|ARPC5L_ENST00000465124.1_3'UTR Q9BPX5 ARP5L_HUMAN actin related protein 2/3 complex, subunit 5-like 93 regulation of actin filament polymerization cytoplasm|cytoskeleton actin binding large_intestine(2)|lung(1) 3 GCAGTGAGATTGAGCAGGCTG 0.502000 5 90 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433185 73433185 + Silent SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:73433185G>A ENST00000263666.4 - 10 2646 c.2532C>T c.(2530-2532)gaC>gaT p.D844D PDZRN3_ENST00000479530.1_Silent_p.D561D|PDZRN3_ENST00000535920.1_Silent_p.D566D|PDZRN3_ENST00000462146.2_Silent_p.D501D|PDZRN3_ENST00000466780.1_Silent_p.D501D NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 844 ubiquitin-protein ligase activity|zinc ion binding p.D844E(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TCCGGCTCCCGTCGCTGGCTC 0.667000 28 38 0 0 1 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698707 111698707 + Missense_Mutation SNP C C A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chrX:111698707C>A ENST00000340433.2 + 1 981 c.751C>A c.(751-753)Cca>Aca p.P251T NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 251 nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 CACAGATCCACCACCCAAGAA 0.562000 4 120 1 1 1 1 0 TCHHL1 126637 broad.mit.edu 37 1 152058997 152058997 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr1:152058997C>G ENST00000368806.1 - 3 1225 c.1161G>C c.(1159-1161)atG>atC p.M387I NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 387 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TTTCATCTCTCATGTCAGATG 0.463000 16 135 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44221299 44221299 + Silent SNP C C T rs143048794 byFrequency TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:44221299C>T ENST00000371554.1 + 12 2353 c.2139C>T c.(2137-2139)ggC>ggT p.G713G HSP90AB1_ENST00000353801.3_Silent_p.G713G|HSP90AB1_ENST00000371646.5_Silent_p.G713G P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 713 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding p.G713G(1) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTCTCGAGGGCGATGAGGATG 0.498000 OREG0017471 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 45 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99917269 99917269 + Silent SNP T T C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr7:99917269T>C ENST00000332397.6 + 9 1612 c.1428T>C c.(1426-1428)tcT>tcC p.S476S SPDYE3_ENST00000437326.2_Silent_p.S99S NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 476 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 AGACCCACTCTCACATACCCT 0.532000 24 57 0 0 1 0 0 OTUD7A 161725 broad.mit.edu 37 15 31818621 31818621 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr15:31818621G>A ENST00000382902.1 - 6 916 c.824C>T c.(823-825)aCg>aTg p.T275M OTUD7A_ENST00000307050.4_Missense_Mutation_p.T268M Q8TE49 OTU7A_HUMAN OTU domain containing 7A 268 Catalytic (By similarity).|OTU.|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CAGCAGCTCCGTCCACTCCCG 0.682000 7 35 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46245523 46245523 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr12:46245523C>T ENST00000334344.6 + 15 3789 c.3617C>T c.(3616-3618)aCg>aTg p.T1206M ARID2_ENST00000422737.1_Missense_Mutation_p.T1057M|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.T816M NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1206 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) ATGAGCGGAACGCAGACAGGA 0.488000 """N, S, F""" hepatocellular carcinoma 13 15 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7094110 7094110 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:7094110C>T ENST00000399510.2 - 22 3073 c.2221G>A c.(2221-2223)Gag>Aag p.E741K DLG4_ENST00000399506.2_Missense_Mutation_p.E698K|DLG4_ENST00000302955.6_Missense_Mutation_p.E695K NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 698 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 TAGATCTCCTCAAAGCTGTCA 0.617000 23 58 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74637457 74637457 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr15:74637457G>A ENST00000358632.4 - 3 774 c.79C>T c.(79-81)Cgc>Tgc p.R27C CYP11A1_ENST00000419019.2_Missense_Mutation_p.R27C|CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000268053.6_Missense_Mutation_p.R185C NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 185 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TTCTTGATGCGCCTGTGCAGG 0.582000 4 69 0 0 1 0 0 RP11-383H13.1 0 broad.mit.edu 37 8 72755864 72755864 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr8:72755864C>T ENST00000537896.1 + 1 498 c.228C>T c.(226-228)tgC>tgT p.C76C MSC_ENST00000325509.4_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_5'UTR lung(1) 1 CGAATCCTTGCGCGCCGCGCC 0.647000 OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 39 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58154337 58154337 + Missense_Mutation SNP G G A rs142229998 TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:58154337G>A ENST00000295956.4 + 44 7534 c.7369G>A c.(7369-7371)Ggt>Agt p.G2457S FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.G2277S|FLNB_ENST00000348383.5_Missense_Mutation_p.G2416S|FLNB_ENST00000490882.1_Missense_Mutation_p.G2488S|FLNB_ENST00000429972.2_Missense_Mutation_p.G2446S|FLNB_ENST00000493452.1_Missense_Mutation_p.G2264S|FLNB_ENST00000358537.3_Missense_Mutation_p.G2433S|FLNB_ENST00000357272.4_3'UTR NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2457 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CGTCAAATACGGTGGGCCCAA 0.532000 13 48 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11049568 11049568 + RNA SNP G G C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr21:11049568G>C ENST00000470054.1 - 0 540 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAAAAGAACTGATCTAAGAGG 0.413000 4 118 0 0 1 0 0 HOXC13 3229 broad.mit.edu 37 12 54339012 54339012 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr12:54339012C>T ENST00000243056.3 + 2 1121 c.965C>T c.(964-966)tCg>tTg p.S322L NM_017410.2 NP_059106.2 P31276 HXC13_HUMAN homeobox C13 322 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|skin(1) 3 GTCAGCAAATCGAAAGCGCCT 0.577000 T NUP98 AML 13 189 0 0 1 0 0 ASB15 142685 broad.mit.edu 37 7 123269135 123269135 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr7:123269135G>A ENST00000451558.1 + 12 1608 c.1087G>A c.(1087-1089)Gtt>Att p.V363I ASB15_ENST00000275699.3_Missense_Mutation_p.V363I|ASB15_ENST00000434204.1_Missense_Mutation_p.V363I|ASB15_ENST00000540573.1_Missense_Mutation_p.V363I|ASB15_ENST00000451215.1_Missense_Mutation_p.V363I Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 363 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 TAATAATGACGTTCATTGCAC 0.438000 35 41 0 0 1 0 0 TBL1Y 90665 broad.mit.edu 37 Y 6911149 6911149 + Missense_Mutation SNP G G C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chrY:6911149G>C ENST00000383032.1 + 7 834 c.187G>C c.(187-189)Gag>Cag p.E63Q TBL1Y_ENST00000355162.2_Missense_Mutation_p.E63Q|TBL1Y_ENST00000346432.3_Missense_Mutation_p.E63Q NM_033284.1 NP_150600.1 Q9BQ87 TBL1Y_HUMAN transducin (beta)-like 1, Y-linked 63 F-box-like. transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 TGTAGAGGCTGAGATAAGCAT 0.527000 10 62 0 0 1 0 0 CMTM2 146225 broad.mit.edu 37 16 66621938 66621938 + Silent SNP A A G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr16:66621938A>G ENST00000268595.2 + 4 814 c.663A>G c.(661-663)aaA>aaG p.K221K CMTM2_ENST00000379486.2_Silent_p.K168K NM_144673.2 NP_653274.1 Q8TAZ6 CKLF2_HUMAN CKLF-like MARVEL transmembrane domain containing 2 221 chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) GAAAGGAAAAAGGACCCCAGC 0.522000 3 73 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 4 73 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123217380 123217380 + Nonsense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chrX:123217380C>T ENST00000371160.1 + 29 3324 c.3034C>T c.(3034-3036)Cga>Tga p.R1012* STAG2_ENST00000354548.5_Nonsense_Mutation_p.R943*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R1012*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R1012*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R1012*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R1012*|STAG2_ENST00000469481.1_Intron NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 1012 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding p.R1012*(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TAAACTACTTCGACAAGACAA 0.343000 34 0 0 0 1 0 0 FAM188A 80013 broad.mit.edu 37 10 15863726 15863726 + Splice_Site SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr10:15863726C>T ENST00000277632.3 - 9 951 c.e9-1 FAM188A_ENST00000477891.1_Splice_Site NM_024948.2 NP_079224.1 Q9H8M7 F188A_HUMAN family with sequence similarity 188, member A apoptosis nucleus calcium ion binding breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 CCAAGAAGTTCTGCAAAAAAC 0.289000 8 28 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131671081 131671081 + Silent SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:131671081C>G ENST00000259324.5 + 3 2161 c.1638C>G c.(1636-1638)ctC>ctG p.L546L LRRC8A_ENST00000372599.3_Silent_p.L546L|LRRC8A_ENST00000372600.4_Silent_p.L546L NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 546 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 TCAAACGCCTCAAGGTGCTGC 0.592000 28 4 0 0 1 0 0 CDS1 1040 broad.mit.edu 37 4 85553028 85553028 + Missense_Mutation SNP A A G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr4:85553028A>G ENST00000295887.5 + 6 1060 c.637A>G c.(637-639)Atg>Gtg p.M213V NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 213 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) GCAGTTTTATATGGTGTGTAT 0.338000 16 70 0 0 1 0 0 ZNF207 7756 broad.mit.edu 37 17 30696342 30696342 + Missense_Mutation SNP A A G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:30696342A>G ENST00000394670.4 + 11 1362 c.1193A>G c.(1192-1194)tAt>tGt p.Y398C ZNF207_ENST00000341711.6_Missense_Mutation_p.Y299C|ZNF207_ENST00000321233.6_Missense_Mutation_p.Y382C|ZNF207_ENST00000577908.1_Missense_Mutation_p.Y398C|ZNF207_ENST00000342555.6_Missense_Mutation_p.Y401C|ZNF207_ENST00000394673.2_Missense_Mutation_p.Y367C NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 382 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TTACCTAAGTATCAACGTAAT 0.502000 24 32 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53994342 53994342 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr15:53994342C>T ENST00000396328.1 - 12 1797 c.1558G>A c.(1558-1560)Gag>Aag p.E520K WDR72_ENST00000360509.5_Missense_Mutation_p.E520K|WDR72_ENST00000559418.1_Missense_Mutation_p.E530K|WDR72_ENST00000557913.1_Missense_Mutation_p.E517K NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 520 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TTAAACTTCTCTGGTGACATC 0.294000 10 64 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48158582 48158582 + Missense_Mutation SNP T T C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:48158582T>C ENST00000418331.2 + 10 2253 c.1901T>C c.(1900-1902)gTa>gCa p.V634A NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 634 Fibronectin type-III 7. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 AACATTGATGTAAGTACCAAC 0.408000 12 52 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131669702 131669702 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:131669702C>T ENST00000259324.5 + 3 782 c.259C>T c.(259-261)Ctg>Ttg p.L87L LRRC8A_ENST00000372599.3_Silent_p.L87L|LRRC8A_ENST00000372600.4_Silent_p.L87L NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 87 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 CTCCACCATTCTGCCGACCCC 0.617000 59 10 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72412694 72412694 + Splice_Site SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:72412694C>G ENST00000359373.5 - 16 3153 c.2302G>C c.(2302-2304)Gag>Cag p.E768Q ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000429686.1_Splice_Site_p.E462Q|ARAP1_ENST00000455638.2_Splice_Site_p.E768Q|ARAP1_ENST00000393609.3_Splice_Site_p.E768Q|ARAP1_ENST00000393605.3_Splice_Site_p.E528Q|ARAP1_ENST00000426523.1_Splice_Site_p.E523Q|ARAP1_ENST00000334211.8_Splice_Site_p.E523Q Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 768 PH 3. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 TGGCACCCACCTTCCCGGGCC 0.632000 15 120 0 0 1 0 0 MON1A 84315 broad.mit.edu 37 3 49947848 49947848 + Silent SNP G G A rs151189958 TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:49947848G>A ENST00000417270.1 - 5 1800 c.1107C>T c.(1105-1107)ggC>ggT p.G369G CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Silent_p.G458G|MON1A_ENST00000455683.2_Silent_p.G296G Q86VX9 MON1A_HUMAN MON1 secretory trafficking family member A 361 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TCCAGGCCTCGCCCTCGCGAA 0.597000 8 43 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30794836 30794836 + Silent SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr16:30794836G>A ENST00000262525.4 - 3 1020 c.813C>T c.(811-813)ttC>ttT p.F271F NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) AGCTGCGGTAGAAAGCCCGGC 0.632000 13 33 0 0 1 0 0 TSSK6 83983 broad.mit.edu 37 19 19626255 19626255 + Translation_Start_Site SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr19:19626255C>T ENST00000360913.3 - 0 583 TSSK6_ENST00000585580.3_De_novo_Start_OutOfFrame Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 CTAGGGCGCACGGGGGGCAGG 0.652000 9 21 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30704505 30704505 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr8:30704505C>T ENST00000256246.2 - 1 2103 c.2029G>A c.(2029-2031)Gaa>Aaa p.E677K NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 677 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATTTCAATTTCACTTTCCAAT 0.289000 6 19 0 0 1 0 0 CNTRL 11064 broad.mit.edu 37 9 123921142 123921142 + Nonsense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:123921142C>T ENST00000373855.1 + 31 5034 c.4774C>T c.(4774-4776)Cag>Tag p.Q1592* CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.Q1592*|CNTRL_ENST00000373850.1_Nonsense_Mutation_p.Q1040*|CNTRL_ENST00000373844.1_Nonsense_Mutation_p.Q37* Q7Z7A1 CNTRL_HUMAN centriolin 1592 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GGTGACAAGTCAGCAGCAGGA 0.463000 70 13 0 0 1 0 0 GPR31 2853 broad.mit.edu 37 6 167570440 167570440 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:167570440G>A ENST00000366834.1 - 1 1377 c.880C>T c.(880-882)Cgg>Tgg p.R294W NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 294 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) AAGACCCTCCGATAGGAGCTC 0.597000 3 33 0 0 1 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499546 59499546 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr15:59499546C>G ENST00000307144.4 + 1 505 c.407C>G c.(406-408)gCa>gGa p.A136G MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 136 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) TTTGTCACAGCAAACTCCAAC 0.433000 26 80 0 0 1 0 0 FXR1 8087 broad.mit.edu 37 3 180666136 180666136 + Splice_Site SNP T T A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:180666136T>A ENST00000357559.4 + 5 656 c.272T>A c.(271-273)tTt>tAt p.F91Y FXR1_ENST00000468861.1_Splice_Site_p.F6Y|FXR1_ENST00000480918.1_Splice_Site_p.F78Y|FXR1_ENST00000445140.2_Splice_Site_p.F91Y|FXR1_ENST00000491062.1_Splice_Site_p.F42Y|FXR1_ENST00000305586.7_Splice_Site_p.F6Y NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 91 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GTCTTTTAGTTTTATGTCATT 0.318000 4 25 0 0 1 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 3 11 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121882333 121882333 + Nonsense_Mutation SNP C C A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr12:121882333C>A ENST00000377069.4 - 15 2423 c.2017G>T c.(2017-2019)Gag>Tag p.E673* KDM2B_ENST00000542973.1_Nonsense_Mutation_p.E72*|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Nonsense_Mutation_p.E704* NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 704 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CCCTCTGACTCCTTAATCTGC 0.602000 14 101 0.00400662 0.00426393 1 1 0 OR5D13 390142 broad.mit.edu 37 11 55541619 55541619 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:55541619C>T ENST00000361760.1 + 1 706 c.706C>T c.(706-708)Cgc>Tgc p.R236C NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 236 R -> L (in dbSNP:rs7124871). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TGCAAGTGGGCGCCAGAAAAC 0.408000 19 58 0 0 1 0 0 POLRMT 5442 broad.mit.edu 37 19 630113 630113 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr19:630113C>T ENST00000588649.2 - 3 333 c.249G>A c.(247-249)gtG>gtA p.V83V NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 83 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCACCCTGTTCACCACCACCT 0.672000 18 86 0 0 1 0 0 GPC3 2719 broad.mit.edu 37 X 132670204 132670204 + Missense_Mutation SNP A A C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chrX:132670204A>C ENST00000370818.3 - 8 2136 c.1691T>G c.(1690-1692)cTt>cGt p.L564R GPC3_ENST00000394299.2_Missense_Mutation_p.L587R|GPC3_ENST00000543339.1_Missense_Mutation_p.L510R NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 564 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) GCTGGTGAGAAGCTTCAGCGG 0.562000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 57 3 0 0 1 0 0 GEMIN4 50628 broad.mit.edu 37 17 650821 650821 + Silent SNP G G A rs151264305 by1000genomes TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:650821G>A ENST00000576778.1 - 1 1770 c.429C>T c.(427-429)gcC>gcT p.A143A GEMIN4_ENST00000437269.1_Silent_p.A154A|GEMIN4_ENST00000319004.5_Silent_p.A154A P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 154 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CCACGTCTTCGGCAGAAGTGT 0.567000 7 75 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44255546 44255546 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:44255546G>A ENST00000371505.4 - 2 139 c.17C>T c.(16-18)aCg>aTg p.T6M RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_De_novo_Start_InFrame|TMEM151B_ENST00000438774.2_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 6 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGCTGATGTCGTTACGGTATC 0.557000 6 24 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228462331 228462331 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr1:228462331C>T ENST00000570156.2 + 24 6941 c.6867C>T c.(6865-6867)ggC>ggT p.G2289G OBSCN_ENST00000422127.1_Silent_p.G1914G|OBSCN_ENST00000284548.11_Silent_p.G1914G|OBSCN_ENST00000366709.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.G761G NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1274 Ig-like 23. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGAGGGCGGCGAGGCCACCT 0.627000 7 16 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534286 534286 + Missense_Mutation SNP C C G rs104894228 TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:534286C>G ENST00000417302.1 - 2 224 c.37G>C c.(37-39)Ggt>Cgt p.G13R HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TTGCCCACACCGCCGGCGCCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 18 10 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127796588 127796588 + Silent SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:127796588G>A ENST00000556132.1 - 6 3447 c.2583C>T c.(2581-2583)gaC>gaT p.D861D SOGA3_ENST00000368268.2_Silent_p.D861D|SOGA3_ENST00000465909.2_Silent_p.D861D|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Silent_p.D861D|SOGA3_ENST00000525778.1_Silent_p.D861D NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 861 integral to membrane p.D861D(1) TGCGGCTGCCGTCGTCCTCCT 0.642000 25 47 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24573026 24573026 + Missense_Mutation SNP T T G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr16:24573026T>G ENST00000319715.4 + 9 1373 c.941T>G c.(940-942)tTt>tGt p.F314C RBBP6_ENST00000381039.3_Missense_Mutation_p.F314C|RBBP6_ENST00000348022.2_Missense_Mutation_p.F314C NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 314 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) GCCAATAAATTTTTACGACAG 0.333000 5 60 0 0 1 0 0 MPRIP 23164 broad.mit.edu 37 17 17083384 17083384 + Silent SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:17083384C>T ENST00000395811.5 + 22 3116 c.3027C>T c.(3025-3027)ctC>ctT p.L1009L MPRIP_ENST00000341712.4_Silent_p.L1009L|MPRIP_ENST00000444976.1_Silent_p.L971L|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000395804.3_Silent_p.L1009L NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 1009 cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CCCGGCAACTCAGAAACATCA 0.488000 5 25 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8393774 8393774 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr17:8393774C>G ENST00000360416.3 - 35 4906 c.4768G>C c.(4768-4770)Gaa>Caa p.E1590Q MYH10_ENST00000269243.4_Missense_Mutation_p.E1559Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1580Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1575Q NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1559 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTGGCATCTTCCGTGGCCTGG 0.542000 3 96 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 176 0 0 1 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32929352 32929352 + Missense_Mutation SNP A A T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr15:32929352A>T ENST00000361627.3 + 12 3100 c.2378A>T c.(2377-2379)aAa>aTa p.K793I ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.K604I|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.K604I NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 793 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) ACATGTGAGAAAACAGTTTCT 0.348000 14 49 0 0 1 0 0 CXCR3 2833 broad.mit.edu 37 X 70836460 70836460 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chrX:70836460G>A ENST00000373691.4 - 2 1166 c.1003C>T c.(1003-1005)Cgc>Tgc p.R335C CXCR3_ENST00000373693.3_Missense_Mutation_p.R288C NM_001142797.1 NP_001136269.1 P49682 CXCR3_HUMAN chemokine (C-X-C motif) receptor 3 288 cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2) 10 Renal(35;0.156) CCACAGTTGCGGGCCAAAGCG 0.632000 16 16 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr13:25161397C>G ENST00000453498.1 + 0 921 TPTE2P6_ENST00000440905.1_RNA TGAAACATCTCTACAACTGGA 0.343000 4 48 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3277363 3277363 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr9:3277363C>T ENST00000382004.3 - 9 1261 c.950G>A c.(949-951)aGc>aAc p.S317N RFX3_ENST00000302303.1_Missense_Mutation_p.S317N|RFX3_ENST00000358730.2_Missense_Mutation_p.S317N NM_001282116.1|NM_134428.1 NP_001269045.1|NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 317 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) ATGATGTTGGCTTTGGGCAAT 0.403000 32 67 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109927742 109927742 + Missense_Mutation SNP C C T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr12:109927742C>T ENST00000342494.3 + 8 1158 c.563C>T c.(562-564)gCg>gTg p.A188V UBE3B_ENST00000536398.1_Missense_Mutation_p.A188V|UBE3B_ENST00000434735.2_Missense_Mutation_p.A188V|UBE3B_ENST00000340074.5_Missense_Mutation_p.A188V|UBE3B_ENST00000280774.5_Missense_Mutation_p.A188V|UBE3B_ENST00000537063.1_Missense_Mutation_p.A188V|UBE3B_ENST00000540230.1_Missense_Mutation_p.A188V NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 188 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CTTCGACCAGCGATGAACCAC 0.443000 15 188 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151962241 151962241 + Missense_Mutation SNP G G C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr7:151962241G>C ENST00000355193.2 - 8 1284 c.1066C>G c.(1066-1068)Cag>Gag p.Q356E KMT2C_ENST00000262189.6_Missense_Mutation_p.Q356E lysine (K)-specific methyltransferase 2C p.Q356K(4) CAAAAGAACTGATCTAAGAGG 0.413000 12 271 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71798289 71798289 + Missense_Mutation SNP C C G TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr16:71798289C>G ENST00000299980.4 - 9 1323 c.882G>C c.(880-882)ttG>ttC p.L294F AP1G1_ENST00000433195.2_Missense_Mutation_p.L317F|AP1G1_ENST00000423132.2_Missense_Mutation_p.L297F|AP1G1_ENST00000569748.1_Missense_Mutation_p.L294F|AP1G1_ENST00000393512.3_Missense_Mutation_p.L297F NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 294 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) CCATGATAGTCAAAACCGTTT 0.363000 7 31 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327275 16327275 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr6:16327275G>A ENST00000244769.4 - 8 2203 c.1267C>T c.(1267-1269)Cac>Tac p.H423Y ATXN1_ENST00000436367.1_Missense_Mutation_p.H423Y NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 423 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 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) TAGGACCGGTGGCCAGGCTTC 0.622000 75 80 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148950982 148950982 + Missense_Mutation SNP G G C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr7:148950982G>C ENST00000335870.2 + 5 1092 c.964G>C c.(964-966)Gag>Cag p.E322Q NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) TTCTGAGTGTGAGATCACCTT 0.567000 4 43 0 0 1 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21934840 21934840 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr1:21934840G>A ENST00000542643.2 - 18 1464 c.1162C>T c.(1162-1164)Cgg>Tgg p.R388W RAP1GAP_ENST00000290101.4_Missense_Mutation_p.R452W|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.R388W|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.R388W|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.R419W NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 388 Rap-GAP. regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GCCCGCGTCCGCTCCTGTGGG 0.647000 3 31 0 0 1 0 0 TNIP1 10318 broad.mit.edu 37 5 150422486 150422486 + Missense_Mutation SNP G G A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr5:150422486G>A ENST00000389378.2 - 10 1561 c.973C>T c.(973-975)Cgg>Tgg p.R325W TNIP1_ENST00000521591.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523200.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523338.1_Missense_Mutation_p.R325W|TNIP1_ENST00000524280.1_Missense_Mutation_p.R325W|TNIP1_ENST00000518977.1_Missense_Mutation_p.R325W|TNIP1_ENST00000522226.1_Missense_Mutation_p.R325W|TNIP1_ENST00000315050.7_Missense_Mutation_p.R325W|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000520931.1_Missense_Mutation_p.R272W NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 325 Interacts with Nef. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCATGGACCGGAAATGCTGG 0.552000 4 256 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57522240 57522240 + Missense_Mutation SNP G G T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr7:57522240G>T ENST00000420713.1 + 2 226 c.114G>T c.(112-114)caG>caT p.Q38H NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 ATGCTCAGCAGAATTTATATA 0.373000 5 57 0.000274275 0.000294592 1 1 0 SLAMF1 6504 broad.mit.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr1:160589601delT ENST00000302035.6 - 5 1178 c.829delA c.(829-831)agcfs p.S277fs SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000538290.1_Intron NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 277 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATCGTAAGGCTTTTTTTTTCC 0.433 8 176 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59725208 59725209 + RNA INS - - T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr2:59725208_59725209insT ENST00000606382.1 - 0 433 cttcctcctcctttctccttct 0.376 2 4 --- --- --- --- H1FOO 132243 broad.mit.edu 37 3 129268107 129268108 + Frame_Shift_Ins INS - - A rs150160917 by1000genomes TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr3:129268107_129268108insA ENST00000324382.2 + 3 647_648 c.642_643insA c.(643-645)aggfs p.R215fs H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.R76fs NM_153833.1 NP_722575.1 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 215 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding endometrium(1)|lung(4)|skin(1) 6 CGGGAGAGGCTAGGAAGGTGCC 0.653 3 6 --- --- --- --- PILRB 29990 broad.mit.edu 37 7 99956513 99956514 + Frame_Shift_Ins INS - - T TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr7:99956513_99956514insT ENST00000610247.1 + 16 2761_2762 c.265_266insT c.(265-267)attfs p.I89fs PILRB_ENST00000609309.1_Frame_Shift_Ins_p.I89fs|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000452089.1_Frame_Shift_Ins_p.I89fs|PILRB_ENST00000444073.1_Frame_Shift_Ins_p.I89fs|PILRB_ENST00000448382.1_Intron Q9UKJ0 PILRB_HUMAN paired immunoglobin-like type 2 receptor beta Ig-like V-type. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCGCCTTCCATTCACAAGGAT 0.550 53 105 --- --- --- --- SPAG6 9576 broad.mit.edu 37 10 22690092 22690093 + Frame_Shift_Ins INS - - A TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr10:22690092_22690093insA ENST00000376603.2 + 9 1570_1571 c.1428_1429insA c.(1429-1431)aaafs p.K477fs SPAG6_ENST00000313311.6_Frame_Shift_Ins_p.K401fs|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Frame_Shift_Ins_p.K162fs|SPAG6_ENST00000538630.1_Frame_Shift_Ins_p.K376fs|SPAG6_ENST00000376624.3_Frame_Shift_Ins_p.K401fs|SPAG6_ENST00000490361.1_3'UTR O75602 SPAG6_HUMAN sperm associated antigen 6 401 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 ATTTCTAGAGTAAAAAAGCCAT 0.327 16 49 --- --- --- --- FBXW4 6468 broad.mit.edu 37 10 103454358 103454360 + In_Frame_Del DEL CCT CCT - TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr10:103454358_103454360delCCT ENST00000331272.7 - 1 656_658 c.38_40delAGG c.(37-42)gaggcg>gcg p.E13del NM_022039.3 NP_071322.1 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 13 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 15 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) TCCCGAGCCGcctcctcctcctc 0.754 2 4 --- --- --- --- MARK2 2011 broad.mit.edu 37 11 63668273 63668276 + Frame_Shift_Del DEL ATGA ATGA - TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr11:63668273_63668276delATGA ENST00000402010.2 + 10 1489_1492 c.910_913delATGA c.(910-915)atgaatfs p.MN304fs MARK2_ENST00000377809.4_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000509502.2_Frame_Shift_Del_p.MN271fs|MARK2_ENST00000315032.8_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000377810.3_Frame_Shift_Del_p.MN271fs|MARK2_ENST00000413835.2_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000508192.1_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000350490.7_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000425897.2_Frame_Shift_Del_p.MN271fs|MARK2_ENST00000408948.3_Frame_Shift_Del_p.MN271fs|MARK2_ENST00000513765.2_Frame_Shift_Del_p.MN271fs|MARK2_ENST00000361128.5_Frame_Shift_Del_p.MN304fs|MARK2_ENST00000502399.3_Frame_Shift_Del_p.MN304fs NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 304 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 AGATCGATGGATGAATGTGGGTCA 0.564 95 144 --- --- --- --- EEF1DP3 196549 broad.mit.edu 37 13 32439751 32439754 + RNA DEL TGTG TGTG - rs113640364 TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr13:32439751_32439754delTGTG ENST00000428783.1 + 0 99 AGAATGATTTtgtgtgtgtgtgtg 0.422 4 2 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr13:108518687_108518689delCTG ENST00000375915.2 - 1 394_396 c.256_258delCAG c.(256-258)cagdel p.Q86del NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 7 31 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45756135 45756137 + RNA DEL CAC CAC - rs111650936 by1000genomes TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr15:45756135_45756137delCAC ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA tccacaccatcaccaccaccacc 0.552 2 4 --- --- --- --- RP11-410D17.2 0 broad.mit.edu 37 16 58926335 58926336 + RNA INS - - C rs113534201 by1000genomes TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr16:58926335_58926336insC ENST00000500117.1 + 0 679 caccaccatcacccccactact 0.535 5 1 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81241347 81241349 + RNA DEL TCT TCT - rs72082520 TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0afabd62-8454-41b4-9b02-386681589688 0213b9a1-5fdd-4064-aaf8-79fbc9715fff g.chr16:81241347_81241349delTCT ENST00000337114.4 - 0 760 PKD1L2_ENST00000525539.1_RNA NM_001076780.1 NP_001070248.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TTTATGTGGGTCttttttttttt 0.399 3 4 --- --- --- ---