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 STK10 6793 broad.mit.edu 37 5 171583761 171583761 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:171583761G>A ENST00000176763.5 - 2 531 c.188C>T c.(187-189)gCg>gTg p.A63V NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 63 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GACTTTGGCCGCAGCCAAAGC 0.547000 5 591 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55912915 55912915 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr10:55912915G>A ENST00000373965.2 - 15 2144 c.1750C>T c.(1750-1752)Cgg>Tgg p.R584W PCDH15_ENST00000373957.3_Missense_Mutation_p.R555W|PCDH15_ENST00000320301.6_Missense_Mutation_p.R577W|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R540W|PCDH15_ENST00000395445.1_Missense_Mutation_p.R584W|PCDH15_ENST00000414778.1_Missense_Mutation_p.R582W|PCDH15_ENST00000373955.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395433.1_Missense_Mutation_p.R555W|PCDH15_ENST00000395438.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395446.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395430.1_Missense_Mutation_p.R577W|PCDH15_ENST00000437009.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R188W|PCDH15_ENST00000361849.3_Missense_Mutation_p.R577W NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 577 Cadherin 5. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GCGTAAGTCCGCCCGACTATC 0.483000 HNSCC(58;0.16) 149 227 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114773065 114773065 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr13:114773065C>T ENST00000334062.7 - 18 1807 c.1686G>A c.(1684-1686)tcG>tcA p.S562S RASA3_ENST00000389544.4_Silent_p.S530S NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 562 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TCCCCGAGGACGAAATCAGAT 0.552000 84 136 0 0 1 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117789465 117789465 + Missense_Mutation SNP G G C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:117789465G>C ENST00000528626.1 - 2 183 c.110C>G c.(109-111)gCc>gGc p.A37G TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A37G|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A37G|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A37G|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A37G NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 37 12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) AGATGCCTGGGCTGGAGATGC 0.632000 6 557 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134054844 134054844 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:134054844C>T ENST00000534548.2 - 18 2353 c.2289G>A c.(2287-2289)ggG>ggA p.G763G RP11-700F16.3_ENST00000531710.1_RNA NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 763 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TTGCAATATGCCCAATCACAC 0.438000 9 1759 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18023559 18023559 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:18023559G>A ENST00000205890.5 + 2 1783 c.1445G>A c.(1444-1446)cGa>cAa p.R482Q NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 482 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CTCTTCCCGCGACCCCAGGTG 0.632000 30 190 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155458639 155458639 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr6:155458639G>A ENST00000461783.3 + 7 2796 c.1523G>A c.(1522-1524)cGg>cAg p.R508Q TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 508 PH 1. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GGGGTGGTCCGGAAGGCCGGG 0.542000 5 299 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327955 152327955 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:152327955G>A ENST00000388718.5 - 3 2379 c.2307C>T c.(2305-2307)agC>agT p.S769S FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 769 Ser-rich. calcium ion binding|structural molecule activity p.S769S(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTGGCCATAGCTAGACTGAC 0.517000 9 1407 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332638 70332638 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:70332638G>A ENST00000338508.4 - 32 3762 c.3763C>T c.(3763-3765)Cgg>Tgg p.R1255W SHANK2_ENST00000423696.2_Missense_Mutation_p.R875W|SHANK2_ENST00000449833.2_Missense_Mutation_p.R659W|SHANK2_ENST00000409161.1_Missense_Mutation_p.R658W Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 875 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AGGCTGGGCCGCATTTTGGTA 0.617000 6 709 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139404265 139404265 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:139404265G>A ENST00000277541.6 - 18 2964 c.2889C>T c.(2887-2889)tgC>tgT p.C963C NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 963 EGF-like 25; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGCTGTCCACGCAGTCCGTGC 0.642000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 662 0 0 1 0 0 RNF5 6048 broad.mit.edu 37 6 32147865 32147865 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr6:32147865C>T ENST00000427134.2 + 5 422 c.407C>T c.(406-408)aCc>aTc p.T136I RNF5_ENST00000375094.3_Missense_Mutation_p.T136I Q99942 RNF5_HUMAN ring finger protein 5, E3 ubiquitin protein ligase 136 ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding p.T136I(3) endometrium(1)|lung(7)|urinary_tract(2) 10 TTTTTCACCACCGTCTTCAAT 0.557000 5 505 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147744171 147744171 + Nonsense_Mutation SNP C C A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chrX:147744171C>A ENST00000370460.2 + 3 1402 c.923C>A c.(922-924)tCa>tAa p.S308* AFF2_ENST00000342251.3_Nonsense_Mutation_p.S304*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.S304*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.S304* NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 308 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CTGAAACCTTCAATTGAATTT 0.478000 6 303 1.6384e-10 1.71832e-10 1 1 0 PLD5 200150 broad.mit.edu 37 1 242253380 242253380 + Missense_Mutation SNP G G C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:242253380G>C ENST00000442594.2 - 11 1620 c.1111C>G c.(1111-1113)Cag>Gag p.Q371E PLD5_ENST00000427495.1_Missense_Mutation_p.Q401E|PLD5_ENST00000536534.1_Missense_Mutation_p.Q463E NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 463 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CCAGCATTCTGAGTGAAATCA 0.398000 125 294 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62018160 62018160 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:62018160G>A ENST00000578147.1 - 24 5558 c.5482C>T c.(5482-5484)Cgc>Tgc p.R1828C SCN4A_ENST00000435607.1_Missense_Mutation_p.R1828C P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1828 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) ACACCTGGGCGCACAGTCTGC 0.677000 5 272 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 11 236 0 0 1 0 0 COL23A1 91522 broad.mit.edu 37 5 177688748 177688748 + Splice_Site SNP C C A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:177688748C>A ENST00000390654.3 - 11 1034 c.675_splice c.e11-1 p.G226_splice COL23A1_ENST00000407622.1_Splice_Site_p.G190_splice NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 226 Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) TCCCTTTGGGCCCTGGAACAA 0.562000 145 229 4.37368e-65 4.72534e-65 1 1 0 TPTE 7179 broad.mit.edu 37 21 10969096 10969096 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr21:10969096C>T ENST00000361285.4 - 7 481 c.152G>A c.(151-153)cGg>cAg p.R51Q TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron NM_199261.2 NP_954870.2 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 51 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) AGGTGACACCCGGGCTGCTCC 0.453000 195 667 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 618833 618833 + Missense_Mutation SNP G G C rs139058512 byFrequency TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:618833G>C ENST00000358353.3 - 14 2048 c.1726C>G c.(1726-1728)Cca>Gca p.P576A CDHR5_ENST00000397542.2_Missense_Mutation_p.P576A|CDHR5_ENST00000349570.7_Intron Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 576 4 X 31 AA approximate tandem repeats. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GAGGTTCCTGGCTCTGGGGTC 0.667000 7 1199 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43679528 43679528 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:43679528G>A ENST00000404580.1 - 4 891 c.803C>T c.(802-804)cCg>cTg p.P268L PSG5_ENST00000599812.1_Missense_Mutation_p.P361L|PSG5_ENST00000407356.1_Missense_Mutation_p.P268L|PSG5_ENST00000366175.3_Missense_Mutation_p.P268L|PSG5_ENST00000342951.6_Missense_Mutation_p.P268L|PSG5_ENST00000407568.1_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 268 Ig-like C2-type 2. female pregnancy extracellular region p.P268L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) ATACTCTGCCGGTGGGTTAGA 0.463000 8 1245 0 0 1 0 0 GEMIN4 50628 broad.mit.edu 37 17 650531 650531 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:650531G>A ENST00000576778.1 - 1 2060 c.719C>T c.(718-720)gCg>gTg p.A240V GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 251 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) CTCTGTCAGCGCAAACACAGT 0.607000 5 551 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71209085 71209085 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr14:71209085C>T ENST00000554752.2 - 6 1549 c.1550G>A c.(1549-1551)cGc>cAc p.R517H MAP3K9_ENST00000553414.1_Missense_Mutation_p.R211H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R254H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R517H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R517H P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 517 KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4). activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GAGGCTGATGCGGTTGCCATC 0.602000 5 646 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179436286 179436286 + Missense_Mutation SNP A A T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:179436286A>T ENST00000589042.1 - 326 74797 c.74573T>A c.(74572-74574)aTt>aAt p.I24858N TTN_ENST00000591111.1_Missense_Mutation_p.I23217N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I22290N|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15985N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I15918N|TTN_ENST00000460472.2_Missense_Mutation_p.I15793N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23217 Fibronectin type-III 81. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCTGATACAATTTGCCAGGT 0.418000 54 114 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 6 182 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 5 298 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109792762 109792762 + Silent SNP T T C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:109792762T>C ENST00000271332.3 + 1 122 c.61T>C c.(61-63)Ttg>Ctg p.L21L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 21 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) gctgctgctgttgctgctgct 0.746000 5 206 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23191911 23191911 + RNA SNP C C T rs147199465 by1000genomes TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr15:23191911C>T ENST00000400153.2 - 0 1785 NR_003521.1 TGATTTTCTTCGCACTGATCC 0.408000 5 133 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42694515 42694515 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr20:42694515G>A ENST00000358131.5 + 6 1278 c.1070G>A c.(1069-1071)cGg>cAg p.R357Q TOX2_ENST00000435864.2_Missense_Mutation_p.R253Q|TOX2_ENST00000423191.1_Missense_Mutation_p.R333Q|TOX2_ENST00000372999.1_Missense_Mutation_p.R333Q|TOX2_ENST00000341197.3_Missense_Mutation_p.R375Q NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) AGCCTCGCCCGGACGCTGGGC 0.706000 189 344 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077764 19077764 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:19077764G>A ENST00000329773.2 - 2 273 c.186C>T c.(184-186)aaC>aaT p.N62N NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 62 N -> S (in dbSNP:rs10833049). sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 CAGAGAAGGCGTTCCTGCGCA 0.557000 89 566 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 7 487 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162555 90162555 + RNA SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:90162555C>T ENST00000567960.1 + 0 1291 TUBB8P7_ENST00000564451.1_RNA ATGCCACGGCCGAGGAGGAGG 0.522000 5 635 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109795748 109795748 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:109795748G>A ENST00000271332.3 + 1 3108 c.3047G>A c.(3046-3048)cGc>cAc p.R1016H NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1016 Cadherin 8. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTCCTTGACCGCAATGACAAC 0.577000 5 398 0 0 1 0 0 SDSL 113675 broad.mit.edu 37 12 113873183 113873183 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:113873183C>T ENST00000403593.4 + 6 755 c.493C>T c.(493-495)Cca>Tca p.P165S SDSL_ENST00000345635.4_Missense_Mutation_p.P165S Q96GA7 SDSL_HUMAN serine dehydratase-like 165 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) GCTGAGGACCCCACCAGGTGC 0.682000 9 89 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 7 337 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107556682 107556682 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:107556682G>A ENST00000374736.3 - 40 5886 c.5492C>T c.(5491-5493)gCc>gTc p.A1831V NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1831 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCTTTCCAGGGCATCAGCCAT 0.468000 6 662 0 0 1 0 0 RCAN2 10231 broad.mit.edu 37 6 46214487 46214487 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr6:46214487G>A ENST00000371374.1 - 4 760 c.569C>T c.(568-570)cCa>cTa p.P190L RCAN2_ENST00000306764.7_Missense_Mutation_p.P190L|RCAN2_ENST00000405162.1_Missense_Mutation_p.P190L|RCAN2_ENST00000330430.6_Missense_Mutation_p.P144L NM_001251974.1 NP_001238903.1 Q14206 RCAN2_HUMAN regulator of calcineurin 2 144 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 AAGCTTACCTGGTCCTAGTTT 0.488000 5 156 0 0 1 0 0 ERCC4 2072 broad.mit.edu 37 16 14014215 14014215 + Nonsense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:14014215C>T ENST00000311895.7 + 1 202 c.193C>T c.(193-195)Cag>Tag p.Q65* ERCC4_ENST00000575156.1_Nonsense_Mutation_p.Q65* NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 65 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 GCTCAACACGCAGCCGGCCGA 0.697000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 37 39 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879332 39879332 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:39879332C>T ENST00000530275.1 + 1 3182 c.2987C>T c.(2986-2988)tCc>tTc p.S996F MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 996 Ala-rich. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAGCCCGCCTCCCCAGCTGCT 0.716000 6 157 0 0 1 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40666417 40666417 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:40666417G>A ENST00000343619.4 + 21 2482 c.2359G>A c.(2359-2361)Gtg>Atg p.V787M ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.V744M|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.V787M|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.V738M|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.V788M|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.V433M|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.V781M NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 787 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) CACCCTGACCGTGGCCATCCT 0.617000 5 611 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110236628 110236628 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:110236628G>A ENST00000418703.2 - 5 1037 c.943C>T c.(943-945)Cgg>Tgg p.R315W TRPV4_ENST00000544971.1_Missense_Mutation_p.R268W|TRPV4_ENST00000392719.2_Missense_Mutation_p.R268W|TRPV4_ENST00000537083.1_Missense_Mutation_p.R315W|TRPV4_ENST00000541794.1_Missense_Mutation_p.R268W|TRPV4_ENST00000261740.2_Missense_Mutation_p.R315W|TRPV4_ENST00000536838.1_Missense_Mutation_p.R281W|TRPV4_ENST00000346520.2_Missense_Mutation_p.R315W NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 315 R -> W (in CMT2C). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 TCCTGGCGCCGCATGTCCGCC 0.612000 5 444 0 0 1 0 0 CMTM1 113540 broad.mit.edu 37 16 66600347 66600347 + Translation_Start_Site SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:66600347G>A ENST00000533953.1 + 0 14 CMTM1_ENST00000531885.1_De_novo_Start_InFrame|CMTM1_ENST00000336328.6_De_novo_Start_InFrame|CMTM1_ENST00000528324.1_De_novo_Start_InFrame|CMTM1_ENST00000535705.1_De_novo_Start_InFrame|CMTM1_ENST00000332695.7_De_novo_Start_InFrame|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533666.1_De_novo_Start_InFrame|CMTM1_ENST00000457188.2_De_novo_Start_InFrame Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) GGGACGCGACGCTGGTTCCCA 0.677000 4 181 0 0 1 0 0 TMEM140 55281 broad.mit.edu 37 7 134849251 134849251 + Missense_Mutation SNP C C A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr7:134849251C>A ENST00000275767.2 + 2 281 c.58C>A c.(58-60)Ctc>Atc p.L20I C7orf49_ENST00000459937.1_Intron NM_018295.4 NP_060765.4 Q9NV12 TM140_HUMAN transmembrane protein 140 20 integral to membrane kidney(1)|large_intestine(2)|lung(2) 5 CATCATAGTCCTCGTGATTGT 0.582000 5 584 1.23904e-05 1.27461e-05 1 1 0 CEP89 84902 broad.mit.edu 37 19 33392297 33392297 + Missense_Mutation SNP C C G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:33392297C>G ENST00000305768.4 - 15 1675 c.1587G>C c.(1585-1587)gaG>gaC p.E529D NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 529 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 CCCTTTCTTTCTCTTCTTCCT 0.453000 5 653 0 0 1 0 0 CYP11B1 0 broad.mit.edu 37 8 143958154 143958154 + Missense_Mutation SNP G G A rs34620645 by1000genomes TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr8:143958154G>A ENST00000292427.4 - 4 775 c.743C>T c.(742-744)aCc>aTc p.T248I CYP11B1_ENST00000517471.1_Missense_Mutation_p.T248I|CYP11B1_ENST00000377675.3_Missense_Mutation_p.T319I NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 248 T -> I (in dbSNP:rs34620645). aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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) Mitotane(DB00648) CTTGGGGCTGGTCCAGCGAGA 0.602000 Familial Hyperaldosteronism type I 8 162 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49738081 49738081 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:49738081C>T ENST00000327697.6 + 15 1360 c.1216C>T c.(1216-1218)Cgg>Tgg p.R406W RNF123_ENST00000432042.1_Missense_Mutation_p.R260W NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 406 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CCATTACCTGCGGCTCACTAT 0.607000 6 626 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27121503 27121503 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:27121503G>A ENST00000288699.6 + 2 294 c.136G>A c.(136-138)Ggc>Agc p.G46S DPYSL5_ENST00000401478.1_Missense_Mutation_p.G46S NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 46 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATGATCCCTGGCGGGGCCAA 0.587000 4 313 0 0 1 0 0 CDC6 990 broad.mit.edu 37 17 38451657 38451657 + Missense_Mutation SNP G G A rs4135016 byFrequency TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:38451657G>A ENST00000209728.4 + 8 1604 c.1133G>A c.(1132-1134)cGc>cAc p.R378H NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 378 R -> H (in dbSNP:rs4135016). cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 TTCTGTGCCCGCAAAGTCTCT 0.403000 6 692 0 0 1 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98678110 98678110 + Splice_Site SNP T T A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:98678110T>A ENST00000288985.7 + 5 1287 c.983_splice c.e5+1 p.W328_splice ERCC6L2_ENST00000437817.1_Splice_Site_p.W139_splice|ERCC6L2_ENST00000466840.1_3'UTR NM_001010895.2 NP_001010895.1 Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 328 Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding TGTTATGGACTGGTGAGAGAA 0.363000 92 137 0 0 1 0 0 CLDN9 9080 broad.mit.edu 37 16 3063749 3063749 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:3063749G>A ENST00000445369.2 + 1 1293 c.386G>A c.(385-387)gGc>gAc p.G129D NM_020982.3 NP_066192.1 O95484 CLD9_HUMAN claudin 9 129 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2)|large_intestine(1)|lung(5)|prostate(2) 10 CTCCTCGCCGGCATCCTGGTG 0.662000 6 853 0 0 1 0 0 ZMAT1 84460 broad.mit.edu 37 X 101138639 101138639 + Missense_Mutation SNP T T C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chrX:101138639T>C ENST00000458570.1 - 9 2577 c.1247A>G c.(1246-1248)aAg>aGg p.K416R ZMAT1_ENST00000372782.3_Missense_Mutation_p.K587R|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K587R A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 416 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TGAACTGACCTTGACTCTATC 0.378000 7 313 0 0 1 0 0 CBLN3 643866 broad.mit.edu 37 14 24897533 24897533 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr14:24897533G>A ENST00000267406.6 - 2 849 c.379C>T c.(379-381)Cgg>Tgg p.R127W CBLN3_ENST00000555436.1_Missense_Mutation_p.R76W NM_001039771.2 NP_001034860.1 Q6UW01 CBLN3_HUMAN cerebellin 3 precursor 127 C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity). cell junction|extracellular region|synapse central_nervous_system(1)|lung(3) 4 GBM - Glioblastoma multiforme(265;0.00159) ACATGGAACCGGAAGCTGTAG 0.652000 6 728 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057140 9057140 + Missense_Mutation SNP C C A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:9057140C>A ENST00000397910.4 - 3 30509 c.30306G>T c.(30304-30306)atG>atT p.M10102I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10104 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTCACTGCCATGCTTGAAG 0.468000 127 268 4.8697e-55 5.20888e-55 1 1 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 9 394 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 8 629 0 0 1 0 0 P4HA1 5033 broad.mit.edu 37 10 74828652 74828652 + Missense_Mutation SNP C C A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr10:74828652C>A ENST00000412021.2 - 6 748 c.415G>T c.(415-417)Gat>Tat p.D139Y P4HA1_ENST00000307116.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000373008.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000394890.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000440381.1_Missense_Mutation_p.D139Y|P4HA1_ENST00000263556.3_Missense_Mutation_p.D139Y NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 139 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TTGTAGGTATCCTGGAGACGT 0.398000 252 393 2.27925e-112 2.47494e-112 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 6 357 0 0 1 0 0 TMEM117 84216 broad.mit.edu 37 12 44782362 44782362 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:44782362C>T ENST00000266534.3 + 8 1579 c.1452C>T c.(1450-1452)acC>acT p.T484T TMEM117_ENST00000536799.1_Silent_p.T380T|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 484 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) CCCACCTAACCTCGGAAAACT 0.453000 263 448 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124418865 124418865 + Nonsense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:124418865C>T ENST00000360013.3 + 56 8108 c.7981C>T c.(7981-7983)Cga>Tga p.R2661* KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932* NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2660 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GGAGTTTGTGCGACTTCCAGA 0.597000 5 536 0 0 1 0 0 MGAT5 4249 broad.mit.edu 37 2 135012053 135012053 + Missense_Mutation SNP A A G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:135012053A>G ENST00000409645.1 + 2 331 c.79A>G c.(79-81)Atg>Gtg p.M27V MGAT5_ENST00000281923.2_Missense_Mutation_p.M27V|MGAT5_ENST00000468758.1_3'UTR Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 27 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) CATTTGGGGTATGATGCTTCT 0.522000 75 134 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109792765 109792765 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:109792765C>T ENST00000271332.3 + 1 125 c.64C>T c.(64-66)Ctg>Ttg p.L22L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 22 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) gctgctgttgctgctgctgct 0.746000 5 210 0 0 1 0 0 STAU1 6780 broad.mit.edu 37 20 47741012 47741012 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr20:47741012G>A ENST00000371828.3 - 7 984 c.497C>T c.(496-498)gCc>gTc p.A166V STAU1_ENST00000371856.2_Missense_Mutation_p.A241V|STAU1_ENST00000360426.4_Missense_Mutation_p.A160V|STAU1_ENST00000371792.1_Missense_Mutation_p.A160V|STAU1_ENST00000340954.7_Missense_Mutation_p.A160V|STAU1_ENST00000371802.1_Missense_Mutation_p.A166V|STAU1_ENST00000347458.5_Missense_Mutation_p.A160V NM_001037328.1|NM_004602.2 NP_001032405.1|NP_004593.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 241 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) AGCTATGGCGGCATTTTTCTT 0.468000 7 842 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14291189 14291189 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:14291189C>T ENST00000344204.4 + 5 929 c.905C>T c.(904-906)gCg>gTg p.A302V TRIO_ENST00000537187.1_Missense_Mutation_p.A302V|TRIO_ENST00000509967.2_Missense_Mutation_p.A253V NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 302 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TCAGGCAATGCGGACCTGCAG 0.562000 5 486 0 0 1 0 0 MICU3 286097 broad.mit.edu 37 8 16963051 16963051 + Silent SNP A A C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr8:16963051A>C ENST00000318063.5 + 11 1257 c.1215A>C c.(1213-1215)tcA>tcC p.S405S MICU3_ENST00000519866.1_3'UTR NM_181723.2 NP_859074.1 mitochondrial calcium uptake family, member 3 AAAATACATCAGTATTTTTAG 0.308000 4 117 0 0 1 0 0 RGL1 23179 broad.mit.edu 37 1 183885789 183885789 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:183885789G>A ENST00000304685.3 + 17 2524 c.2063G>A c.(2062-2064)cGc>cAc p.R688H RGL1_ENST00000536277.1_Missense_Mutation_p.R651H|RGL1_ENST00000360851.3_Missense_Mutation_p.R653H|RGL1_ENST00000539189.1_Missense_Mutation_p.R624H|RGL1_ENST00000367531.1_Missense_Mutation_p.R688H NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 653 Ras-associating. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 TGCATAATCCGCATCAGTGTG 0.498000 5 380 0 0 1 0 0 PCYT1A 5130 broad.mit.edu 37 3 195965646 195965646 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:195965646G>A ENST00000292823.2 - 10 1189 c.1017C>T c.(1015-1017)tcC>tcT p.S339S PCYT1A_ENST00000431016.1_Silent_p.S339S|PCYT1A_ENST00000419333.1_Silent_p.S339S NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 339 3 X repeats. cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) AAGTCTTGCCGGAGAAGGGCC 0.607000 5 355 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11891903 11891903 + Missense_Mutation SNP A A G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:11891903A>G ENST00000357901.4 + 4 1366 c.1264A>G c.(1264-1266)Aaa>Gaa p.K422E ZNF441_ENST00000454339.2_Missense_Mutation_p.K355E NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATATAAATGTAAACAATGTGG 0.368000 82 124 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19473374 19473374 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:19473374G>A ENST00000375267.2 - 52 7753 c.7750C>T c.(7750-7752)Cgc>Tgc p.R2584C UBR4_ENST00000375254.3_Missense_Mutation_p.R2584C|UBR4_ENST00000375217.2_Missense_Mutation_p.R2584C|UBR4_ENST00000375226.2_Missense_Mutation_p.R2595C Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2584 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTGTTGGGGCGCATGATGGCA 0.532000 6 899 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67211983 67211983 + Silent SNP A A G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:67211983A>G ENST00000269081.4 - 9 1740 c.831T>C c.(829-831)ccT>ccC p.P277P ABCA10_ENST00000432313.2_Silent_p.P277P|ABCA10_ENST00000416101.2_Silent_p.P277P NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 277 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TGAAGGCAAAAGGGCTAAGAA 0.353000 4 199 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100460491 100460491 + Missense_Mutation SNP T T C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr4:100460491T>C ENST00000514652.1 + 7 1154 c.800T>C c.(799-801)gTg>gCg p.V267A C4orf17_ENST00000326581.4_Missense_Mutation_p.V267A Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 267 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) AAATCAAAAGTGCTGACCAGA 0.458000 21 274 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156915309 156915309 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:156915309C>T ENST00000257527.4 - 21 2592 c.2514G>A c.(2512-2514)cgG>cgA p.R838R ADAM19_ENST00000517905.1_Silent_p.R838R|ADAM19_ENST00000430702.2_Silent_p.R571R|ADAM19_ENST00000394020.1_Silent_p.R840R NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 838 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGGGAATTGGCCGGCTTGGAG 0.567000 7 1024 0 0 1 0 0 RRAD 6236 broad.mit.edu 37 16 66956197 66956197 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:66956197G>A ENST00000299759.6 - 5 959 c.709C>T c.(709-711)Cac>Tac p.H237Y RRAD_ENST00000420652.1_Missense_Mutation_p.H237Y P55042 RAD_HUMAN Ras-related associated with diabetes 237 small GTPase mediated signal transduction plasma membrane calmodulin binding|GTP binding|GTPase activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) ACATTGTGGTGCAATGCCGCT 0.602000 5 411 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111216789 111216789 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:111216789C>T ENST00000369769.2 - 1 866 c.643G>A c.(643-645)Gac>Aac p.D215N NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 215 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) CGCTGGAAGTCGCGGCGGGGC 0.682000 14 482 0 0 1 0 0 ASB18 401036 broad.mit.edu 37 2 237103689 237103689 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:237103689C>T ENST00000330842.6 - 5 1234 c.1140G>A c.(1138-1140)ccG>ccA p.P380P ASB18_ENST00000409749.3_Silent_p.P409P|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box containing 18 409 intracellular signal transduction large_intestine(1)|lung(3)|ovary(1)|prostate(1) 6 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) ACTGGTAGAACGGCTTGTGCA 0.542000 56 100 0 0 1 0 0 CCDC92 80212 broad.mit.edu 37 12 124428832 124428832 + Silent SNP C C T rs148809811 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:124428832C>T ENST00000238156.3 - 2 375 c.21G>A c.(19-21)tcG>tcA p.S7S CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545891.1_Intron|CCDC92_ENST00000545135.1_5'UTR NM_025140.1 NP_079416.1 Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 7 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) CATCGTAACTCGAGAAATGTG 0.498000 107 206 0 0 1 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243456473 243456473 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:243456473C>T ENST00000366541.3 + 6 745 c.627C>T c.(625-627)gaC>gaT p.D209D SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000343783.6_Silent_p.D64D|SDCCAG8_ENST00000391846.1_Silent_p.D209D NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 209 establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) TTTCCCATGACAATGCAGATT 0.403000 7 387 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123472784 123472784 + Silent SNP C C A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:123472784C>A ENST00000280562.5 - 19 3181 c.2976G>T c.(2974-2976)ctG>ctT p.L992L PITPNM2_ENST00000320201.4_Silent_p.L998L|PITPNM2_ENST00000392428.1_Silent_p.L719L|PITPNM2_ENST00000542749.1_Silent_p.L998L Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 0 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CCCTCACCCGCAGCTTCACGT 0.627000 9 663 2.17888e-05 2.23076e-05 1 1 0 HMCN1 83872 broad.mit.edu 37 1 185892601 185892601 + Missense_Mutation SNP C C G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:185892601C>G ENST00000271588.4 + 8 1330 c.1101C>G c.(1099-1101)atC>atG p.I367M HMCN1_ENST00000367492.2_Missense_Mutation_p.I367M NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 367 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTTTGAGTATCTCAGGAAGTT 0.353000 7 212 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61929336 61929336 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr20:61929336G>A ENST00000422202.1 + 2 225 c.157G>A c.(157-159)Ggc>Agc p.G53S COL20A1_ENST00000435874.1_Missense_Mutation_p.G53S|COL20A1_ENST00000358894.6_Missense_Mutation_p.G53S|COL20A1_ENST00000326996.6_Missense_Mutation_p.G53S Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 53 Fibronectin type-III 1. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GGAGGGGAGCGGCCTCGGCTA 0.632000 7 294 0 0 1 0 0 AAMDC 28971 broad.mit.edu 37 11 77580841 77580841 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:77580841G>A ENST00000527134.1 + 4 354 c.206G>A c.(205-207)cGa>cAa p.R69Q AAMDC_ENST00000393427.2_Missense_Mutation_p.R69Q|AAMDC_ENST00000304716.8_Missense_Mutation_p.R69Q|AAMDC_ENST00000533193.1_Missense_Mutation_p.R115Q|RP11-91P24.6_ENST00000530972.1_RNA|AAMDC_ENST00000526415.1_Missense_Mutation_p.R69Q|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000525409.1_Intron|AAMDC_ENST00000532481.1_Missense_Mutation_p.R69Q|AAMDC_ENST00000525034.1_Missense_Mutation_p.R88Q adipogenesis associated, Mth938 domain containing GTGATTGGCCGAGGGATGAGT 0.502000 6 868 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166171996 166171996 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:166171996G>A ENST00000357398.3 + 11 1689 c.1399G>A c.(1399-1401)Gca>Aca p.A467T SCN2A_ENST00000375437.2_Missense_Mutation_p.A467T|SCN2A_ENST00000375427.2_Missense_Mutation_p.A467T|SCN2A_ENST00000283256.6_Missense_Mutation_p.A467T Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 467 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGCTGCAGCCGCATCTGCTGA 0.408000 11 421 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 7 551 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202702804 202702804 + Missense_Mutation SNP C C A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:202702804C>A ENST00000367265.3 - 23 4798 c.3634G>T c.(3634-3636)Ggc>Tgc p.G1212C KDM5B_ENST00000367264.2_Missense_Mutation_p.G1248C NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1212 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 ATTCGCAGGCCCTGTGAAATA 0.542000 135 143 1.22322e-63 1.31496e-63 1 1 0 DYRK1A 1859 broad.mit.edu 37 21 38877757 38877757 + Missense_Mutation SNP T T A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr21:38877757T>A ENST00000339659.3 + 9 2854 c.1384T>A c.(1384-1386)Tat>Aat p.Y462N DYRK1A_ENST00000338785.3_Missense_Mutation_p.Y471N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Y243N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.Y471N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.Y471N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.Y471N|DYRK1A_ENST00000398960.2_Missense_Mutation_p.Y471N NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 471 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AATTCAACCTTATTATGCTCT 0.438000 5 417 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10090747 10090747 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chrX:10090747C>T ENST00000380861.4 + 12 2110 c.1719C>T c.(1717-1719)agC>agT p.S573S WWC3_ENST00000454666.1_Silent_p.S573S NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 573 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 CGCTAGCCAGCGACAGTGGGG 0.498000 7 881 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323756 79323756 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:79323756G>A ENST00000428286.1 - 8 3557 c.2357C>T c.(2356-2358)gCg>gTg p.A786V PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1145V Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1145 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GGGGATTGCCGCACCCCCACT 0.522000 6 541 0 0 1 0 0 MKNK2 2872 broad.mit.edu 37 19 2041073 2041073 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:2041073G>A ENST00000250896.3 - 12 1320 c.1076C>T c.(1075-1077)gCc>gTc p.A359V MKNK2_ENST00000588014.1_Missense_Mutation_p.A103V|MKNK2_ENST00000541165.1_Missense_Mutation_p.A228V|MKNK2_ENST00000591588.1_Missense_Mutation_p.A103V|MKNK2_ENST00000591601.1_Missense_Mutation_p.A359V|MKNK2_ENST00000309340.7_Missense_Mutation_p.A359V|MKNK2_ENST00000591142.1_Missense_Mutation_p.A103V NM_199054.2 NP_951009.1 Q9HBH9 MKNK2_HUMAN MAP kinase interacting serine/threonine kinase 2 359 Protein kinase. cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity p.A359V(2) breast(1)|kidney(3)|large_intestine(3)|lung(3) 10 Ovarian(11;2.11e-07)|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) GACTTGGGCGGCACTCAGCCT 0.662000 5 532 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46326986 46326986 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:46326986C>T ENST00000369367.3 - 9 895 c.662G>A c.(661-663)aGt>aAt p.S221N SCAF11_ENST00000419565.2_Missense_Mutation_p.S221N|SCAF11_ENST00000549162.1_Missense_Mutation_p.S29N NM_004719.2 NP_004710.2 Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 221 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 AATCAATGCACTGATTTCACT 0.313000 77 150 0 0 1 0 0 C5orf38 153571 broad.mit.edu 37 5 2752818 2752818 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:2752818G>A ENST00000515640.1 + 2 302 c.283G>A c.(283-285)Gag>Aag p.E95K C5orf38_ENST00000505778.1_Missense_Mutation_p.E95K|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000397835.4_Missense_Mutation_p.E95K|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000334000.3_Missense_Mutation_p.E95K Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 95 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) CAGTCACGTCGAGAACGGGCA 0.602000 7 669 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371436 240371436 + Silent SNP T T C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:240371436T>C ENST00000319653.9 + 5 3554 c.3324T>C c.(3322-3324)ccT>ccC p.P1108P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1108 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1251P(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TGGGCATACCTCCTCCGCCCC 0.731000 4 96 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262047 39262047 + Missense_Mutation SNP A A G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:39262047A>G ENST00000391415.1 + 1 464 c.407A>G c.(406-408)aAg>aGg p.K136R NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 136 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 agctgctgcaagccccagtgc 0.652000 4 145 0 0 1 0 0 RFPL1 5988 broad.mit.edu 37 22 29837976 29837976 + Silent SNP C C A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr22:29837976C>A ENST00000354373.2 + 2 1028 c.819C>A c.(817-819)gtC>gtA p.V273V RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 273 B30.2/SPRY. zinc ion binding p.V273V(2) endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TCAGGAGTGTCTCTGCTGAGG 0.468000 5 252 1.5842e-08 1.64543e-08 1 1 0 CEP72 55722 broad.mit.edu 37 5 633946 633946 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:633946C>T ENST00000264935.5 + 5 665 c.575C>T c.(574-576)gCg>gTg p.A192V CEP72_ENST00000444221.1_Intron NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 192 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) GTCATGGATGCGGATGACGAG 0.612000 7 1025 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215933091 215933091 + Silent SNP T T C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:215933091T>C ENST00000366943.2 - 57 11528 c.11142A>G c.(11140-11142)caA>caG p.Q3714Q USH2A_ENST00000307340.3_Silent_p.Q3714Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3714 Fibronectin type-III 22. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCAATTGATATTGAGAAACGA 0.428000 HNSCC(13;0.011) 112 312 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104642766 104642766 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr14:104642766C>T ENST00000315264.7 + 11 3602 c.3224C>T c.(3223-3225)cCg>cTg p.P1075L KIF26A_ENST00000423312.2_Missense_Mutation_p.P1214L Q9ULI4 KI26A_HUMAN kinesin family member 26A 1214 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) CCCCGGAAACCGAGGACTGCC 0.721000 53 102 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608089 84608089 + Missense_Mutation SNP A A T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:84608089A>T ENST00000344803.2 + 4 2751 c.2704A>T c.(2704-2706)Atg>Ttg p.M902L NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 p.M902V(2) CAAACAAAAGATGTTGGAAGC 0.433000 88 172 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 7 115 0 0 1 0 0 OSBPL10 114884 broad.mit.edu 37 3 31789494 31789494 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:31789494G>A ENST00000396556.2 - 5 970 c.848C>T c.(847-849)gCt>gTt p.A283V OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.A219V NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 283 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) GAGGGTGGCAGCAGAGGTAGC 0.637000 5 508 0 0 1 0 0 ONECUT2 9480 broad.mit.edu 37 18 55103544 55103544 + Missense_Mutation SNP G G C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr18:55103544G>C ENST00000491143.2 + 1 628 c.596G>C c.(595-597)cGc>cCc p.R199P NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 199 organ morphogenesis nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) ACCCTCATGCGCGACGAGCGC 0.677000 44 43 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G A rs28934573 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:7577559G>A ENST00000420246.2 - 7 854 c.722C>T c.(721-723)tCc>tTc p.S241F TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 241 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCCATGCAGGAACTGTTACA 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 107 110 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580666 40580666 + Silent SNP T T C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:40580666T>C ENST00000450241.2 - 6 1892 c.1581A>G c.(1579-1581)gaA>gaG p.E527E ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.E562E|ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000340963.5_Silent_p.E561E O75290 Z780A_HUMAN zinc finger protein 780A 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CTTTCCCACATTCCTTACATT 0.388000 7 724 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128983486 128983486 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:128983486G>A ENST00000274487.4 + 12 2028 c.1883G>A c.(1882-1884)aGg>aAg p.R628K CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 628 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TGTACCAGCAGGACCTCAGCA 0.507000 255 434 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43155033 43155033 + Silent SNP G G A rs148427416 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr6:43155033G>A ENST00000252050.4 + 6 1521 c.1437G>A c.(1435-1437)ccG>ccA p.P479P CUL9_ENST00000372647.2_Silent_p.P479P|CUL9_ENST00000354495.3_Intron NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 479 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 ACCCTTTGCCGTACCTCCAGC 0.532000 5 549 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51219616 51219616 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:51219616G>A ENST00000293441.1 - 2 393 c.375C>T c.(373-375)tcC>tcT p.S125S SHANK1_ENST00000359082.3_Silent_p.S125S|SHANK1_ENST00000391814.1_Silent_p.S125S NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 125 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CATCGCGGCCGGAGGTGGCCG 0.637000 5 475 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 5 154 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 8 711 6.31663e-08 6.52921e-08 1 1 0 PTBP1 5725 broad.mit.edu 37 19 804908 804908 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:804908C>T ENST00000356948.6 + 7 1109 c.686C>T c.(685-687)gCg>gTg p.A229V PTBP1_ENST00000349038.4_Missense_Mutation_p.A229V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V|PTBP1_ENST00000350092.4_Intron NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 229 RRM 2. negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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) CTGCAGTATGCGGACCCCGTG 0.662000 6 569 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57288528 57288528 + Silent SNP C C A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:57288528C>A ENST00000543872.2 + 2 1380 c.1116C>A c.(1114-1116)ccC>ccA p.P372P SMG8_ENST00000300917.5_Silent_p.P372P|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.P372P Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 372 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 TGCCTGCACCCCTTTCTGGGC 0.542000 5 278 0.000602214 0.000613631 1 1 0 MUC16 94025 broad.mit.edu 37 19 9089947 9089947 + Missense_Mutation SNP G G T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:9089947G>T ENST00000397910.4 - 1 2071 c.1868C>A c.(1867-1869)aCa>aAa p.T623K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 623 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGGTGGGTTGTGCCCTGGCT 0.577000 129 257 1.59589e-38 1.69859e-38 1 1 0 XPNPEP1 7511 broad.mit.edu 37 10 111630550 111630550 + Silent SNP G G A rs143796899 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr10:111630550G>A ENST00000369680.4 - 18 1754 c.1506C>T c.(1504-1506)tgC>tgT p.C502C XPNPEP1_ENST00000502935.1_Silent_p.C545C|XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000322238.8_Silent_p.C521C NM_020383.3 NP_065116.3 Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 502 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity p.C502C(2)|p.C545C(2) endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) AACTGATGCCGCAAGGACCCT 0.498000 6 625 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1921002 1921002 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:1921002C>T ENST00000399161.2 - 11 2340 c.1593G>A c.(1591-1593)ccG>ccA p.P531P MYT1L_ENST00000428368.2_Silent_p.P529P NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 531 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P531P(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TATCTTTGTGCGGGCATCCGG 0.562000 7 1106 0 0 1 0 0 NPIPA1 9284 broad.mit.edu 37 16 15045628 15045628 + Missense_Mutation SNP T T C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:15045628T>C ENST00000328085.6 + 8 799 c.799T>C c.(799-801)Tcc>Ccc p.S267P NPIPA1_ENST00000472413.1_3'UTR NM_006985.2 NP_008916.2 nuclear pore complex interacting protein family, member A1 p.S267P(2) CAAGACACCTTCCGAGTGTCT 0.517000 5 530 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 10 175 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63032911 63032911 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr15:63032911C>T ENST00000561311.1 + 31 4198 c.3968C>T c.(3967-3969)tCt>tTt p.S1323F TLN2_ENST00000306829.6_Missense_Mutation_p.S1323F Q9Y4G6 TLN2_HUMAN talin 2 1323 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton p.S1323Y(1) NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GCTGCCAAGTCTCTCTCTGTA 0.493000 67 213 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125398210 125398210 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:125398210G>A ENST00000536769.1 - 1 1684 c.108C>T c.(106-108)atC>atT p.I36I UBC_ENST00000538617.1_Silent_p.I36I|UBC_ENST00000546120.1_Silent_p.I36I|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000339647.5_Silent_p.I36I P0CG48 UBC_HUMAN ubiquitin C 36 Ubiquitin-like 1. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) GGTCAGGAGGGATGCCTTCCT 0.527000 8 1089 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20929453 20929453 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr22:20929453G>A ENST00000263205.7 + 9 1275 c.1206G>A c.(1204-1206)ccG>ccA p.P402P MED15_ENST00000406969.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000541476.1_Intron NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 402 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) CCCGGTTCCCGCCTACCACCG 0.597000 6 373 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994960 140994960 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chrX:140994960G>A ENST00000285879.4 + 4 2056 c.1770G>A c.(1768-1770)ctG>ctA p.L590L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 590 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGGACTCCCTGTCTCCTCACT 0.567000 HNSCC(15;0.026) 8 1112 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23410819 23410819 + Missense_Mutation SNP A A G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chrX:23410819A>G ENST00000379361.4 + 3 2044 c.1184A>G c.(1183-1185)aAc>aGc p.N395S NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 395 SSD. cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CCTTTCACGAACATTGAGGCA 0.483000 5 262 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5662580 5662580 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr7:5662580G>A ENST00000425013.2 - 17 2736 c.2512C>T c.(2512-2514)Cgg>Tgg p.R838W RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895W NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 838 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding p.R895W(1) FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TAGTTGACCCGCACGTTGGGC 0.642000 7 1056 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117791722 117791722 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:117791722C>T ENST00000350763.4 - 25 6497 c.6086G>A c.(6085-6087)cGc>cAc p.R2029H TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000423613.2_Missense_Mutation_p.R1756H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000542877.1_Missense_Mutation_p.R1666H|TNC_ENST00000340094.3_Missense_Mutation_p.R1665H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000535648.1_Missense_Mutation_p.R1574H NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 2029 Fibrinogen C-terminal. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 TCCGTTTTTGCGTCTCAGGAA 0.488000 6 548 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637216 248637216 + Missense_Mutation SNP C C A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:248637216C>A ENST00000359594.2 + 1 590 c.565C>A c.(565-567)Ctg>Atg p.L189M NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GACTCCTGCCCTGCTGAAGCT 0.512000 7 832 7.03913e-09 7.34666e-09 1 1 0 POMC 5443 broad.mit.edu 37 2 25387630 25387630 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:25387630C>T ENST00000405623.1 - 2 467 c.12G>A c.(10-12)tcG>tcA p.S4S POMC_ENST00000395826.2_Silent_p.S4S|POMC_ENST00000380794.1_Silent_p.S4S|POMC_ENST00000264708.3_Silent_p.S4S P01189 COLI_HUMAN proopiomelanocortin 4 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) GGCTGCAGCACGATCTCGGCA 0.607000 6 366 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133365860 133365860 + Missense_Mutation SNP T T G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:133365860T>G ENST00000204726.3 - 13 3122 c.2564A>C c.(2563-2565)tAc>tCc p.Y855S GOLGA3_ENST00000537452.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.Y855S NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 855 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GTCGCGCCGGTAGGCCTCCAC 0.637000 8 210 0 0 1 0 0 SLC19A1 6573 broad.mit.edu 37 21 46951654 46951654 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr21:46951654C>T ENST00000311124.4 - 3 750 c.598G>A c.(598-600)Gcc>Acc p.A200T SLC19A1_ENST00000567670.1_Missense_Mutation_p.A200T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A160T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A200T NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 200 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) AGGAAGAGGGCGAGGACCACG 0.647000 53 44 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141051740 141051740 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:141051740G>A ENST00000239440.4 - 10 1579 c.1514C>T c.(1513-1515)gCg>gTg p.A505V ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 505 Arf-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CCCACAGTCCGCACACTGCCG 0.612000 7 1202 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34150174 34150174 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chrX:34150174G>A ENST00000346193.3 - 1 273 c.222C>T c.(220-222)gaC>gaT p.D74D NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 74 p.D74D(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GTAAAAACTCGTCACGGCGAC 0.532000 245 106 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 8 136 0 0 1 0 0 C11orf82 220042 broad.mit.edu 37 11 82645017 82645017 + Silent SNP A A C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:82645017A>C ENST00000533655.1 + 6 2849 c.2637A>C c.(2635-2637)ggA>ggC p.G879G C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Silent_p.G578G|C11orf82_ENST00000430323.2_Silent_p.G879G NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 879 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 ATATGCTTGGATTCCAAGGCA 0.408000 39 297 0 0 1 0 0 HIST1H2AC 8334 broad.mit.edu 37 6 26124800 26124800 + Missense_Mutation SNP G G T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr6:26124800G>T ENST00000602637.1 + 1 370 c.340G>T c.(340-342)Gcc>Tcc p.A114S HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A114S Q93077 H2A1C_HUMAN histone cluster 1, H2ac 114 nucleosome assembly nucleosome|nucleus DNA binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5) 12 TAACATCCAGGCCGTGCTTCT 0.582000 27 257 8.24728e-16 8.69199e-16 1 1 0 RP1L1 94137 broad.mit.edu 37 8 10466059 10466059 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr8:10466059C>T ENST00000382483.3 - 4 5772 c.5549G>A c.(5548-5550)gGt>gAt p.G1850D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1850 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGCCTCTACACCTTCTGACTC 0.642000 8 1750 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 11 249 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 183027561 183027561 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:183027561G>A ENST00000328913.3 - 10 1353 c.1056C>T c.(1054-1056)agC>agT p.S352S MCF2L2_ENST00000447025.2_Silent_p.S352S|MCF2L2_ENST00000473233.1_Silent_p.S352S|MCF2L2_ENST00000414362.2_Silent_p.S352S NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 352 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CGTGCATCACGCTGTCTCCAA 0.448000 11 401 0 0 1 0 0 ZGPAT 84619 broad.mit.edu 37 20 62365008 62365008 + Missense_Mutation SNP A A G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr20:62365008A>G ENST00000328969.5 + 4 915 c.788A>G c.(787-789)gAc>gGc p.D263G ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.1_Missense_Mutation_p.D263G NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 263 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GTGGAGGGGGACGGCATCCTG 0.617000 6 986 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871857 51871857 + Silent SNP C C T rs143642849 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr20:51871857C>T ENST00000371497.5 + 2 2747 c.1860C>T c.(1858-1860)caC>caT p.H620H TSHZ2_ENST00000603338.2_Silent_p.H617H|TSHZ2_ENST00000329613.6_Silent_p.H617H NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 620 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AAAGTCCCCACGAAGAGGCCT 0.517000 189 374 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 6 357 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 9 887 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367484.3_Silent_p.T336T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 9 717 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 5 241 0 0 1 0 0 CREBRF 153222 broad.mit.edu 37 5 172518124 172518124 + Silent SNP A A G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:172518124A>G ENST00000540014.1 + 4 1261 c.942A>G c.(940-942)ggA>ggG p.G314G CREBRF_ENST00000520420.1_Silent_p.G314G|CREBRF_ENST00000522692.1_Silent_p.G314G|CREBRF_ENST00000296953.2_Silent_p.G314G Q8IUR6 CE041_HUMAN CREB3 regulatory factor 314 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TTGCAGCAGGAGAGAGCAGCA 0.478000 5 336 0 0 1 0 0 PCDHA1 0 broad.mit.edu 37 5 140166589 140166589 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:140166589C>T ENST00000504120.2 + 1 714 c.714C>T c.(712-714)aaC>aaT p.N238N PCDHA1_ENST00000378133.3_Silent_p.N238N|PCDHA1_ENST00000394633.3_Silent_p.N238N NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAATGATAACGCCCCACTGT 0.488000 172 282 0 0 1 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43636461 43636461 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:43636461G>A ENST00000431635.2 - 5 726 c.578C>T c.(577-579)gCg>gTg p.A193V EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.A138V NM_001159936.1 NP_001153408.1 Q99848 EBP2_HUMAN EBNA1 binding protein 2 138 ribosome biogenesis membrane fraction|nucleolus protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(9) 16 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGCCATTTCCGCAAAATAATC 0.473000 6 825 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123843041 123843041 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr10:123843041G>A ENST00000369005.1 + 4 1366 c.1026G>A c.(1024-1026)ccG>ccA p.P342P TACC2_ENST00000515273.1_Silent_p.P342P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.P342P|TACC2_ENST00000453444.2_Silent_p.P342P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.P342P NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 342 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CATATCTGCCGCACGCAGAGC 0.632000 5 488 0 0 1 0 0 FOXD4 2298 broad.mit.edu 37 9 117757 117757 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:117757C>T ENST00000382500.2 - 1 660 c.363G>A c.(361-363)ccG>ccA p.P121P NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 121 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGCGCTTGTGCGGGCTTTGCA 0.652000 6 587 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60551330 60551330 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr20:60551330G>A ENST00000252996.3 - 15 3151 c.3152C>T c.(3151-3153)aCg>aTg p.T1051M NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 1051 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TCTTTGTCGCGTGAACTGTCT 0.537000 6 985 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133883773 133883773 + Missense_Mutation SNP G G A rs114781869 byFrequency TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr8:133883773G>A ENST00000220616.4 + 4 495 c.455G>A c.(454-456)cGc>cAc p.R152H TG_ENST00000377869.1_Missense_Mutation_p.R152H NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 152 Thyroglobulin type-1 2. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TATGGGACCCGCCAGCTGGGG 0.592000 104 173 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 7 182 0 0 1 0 0 SDAD1P1 0 broad.mit.edu 37 8 26237686 26237686 + RNA SNP T T C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr8:26237686T>C ENST00000519902.1 - 0 2262 ATCATTACATTATTATCCTTG 0.438000 14 346 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295549 62295549 + Missense_Mutation SNP C C T rs1298288 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:62295549C>T ENST00000378024.4 - 5 6614 c.6340G>A c.(6340-6342)Gcc>Acc p.A2114T AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2114 A -> T (in dbSNP:rs1298288). nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATCTTGGGGGCCTTGAAGTGC 0.507000 8 1405 0 0 1 0 0 KBTBD4 55709 broad.mit.edu 37 11 47599133 47599133 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:47599133C>T ENST00000533290.1 - 1 1208 c.494G>A c.(493-495)cGc>cAc p.R165H NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 140 BACK. p.R140H(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 TTGCACTGTGCGGGCCAAAAA 0.517000 6 918 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 7 340 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111912 57111912 + Silent SNP G G A rs2926744 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:57111912G>A ENST00000454682.1 - 3 3683 c.3402C>T c.(3400-3402)ccC>ccT p.P1134P NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 5 691 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:112608394T>C ENST00000341068.3 - 14 2381 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.T537A(5) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433000 7 480 0 0 1 0 0 NMRAL1 57407 broad.mit.edu 37 16 4516232 4516232 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:4516232G>A ENST00000574733.1 - 4 1180 c.451C>T c.(451-453)Cgg>Tgg p.R151W NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W Q9HBL8 NMRL1_HUMAN NmrA-like family domain containing 1 151 nucleus|perinuclear region of cytoplasm binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1) 15 CAGGGCAGCCGCACACTGGTC 0.572000 5 386 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25462667 25462667 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr20:25462667G>A ENST00000278886.6 - 14 1820 c.1747C>T c.(1747-1749)Cgg>Tgg p.R583W NINL_ENST00000422516.1_Missense_Mutation_p.R583W NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 583 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GGGCTGTGCCGGTTCTTGGGC 0.692000 6 575 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146755420 146755420 + Missense_Mutation SNP C C G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr6:146755420C>G ENST00000361719.2 + 9 3543 c.3073C>G c.(3073-3075)Cca>Gca p.P1025A GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1025A|GRM1_ENST00000507907.1_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1025 Gln/Pro-rich. 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) GCAACCCCCTCCACAGCAGAA 0.662000 113 328 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27448836 27448836 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:27448836C>T ENST00000337929.3 + 4 653 c.180C>T c.(178-180)gaC>gaT p.D60D IL21R_ENST00000395755.1_Silent_p.D60D|IL21R_ENST00000395754.4_Silent_p.D60D|IL21R_ENST00000564089.1_Silent_p.D60D NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 60 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 AGCTGAAGGACGAGGCCACCT 0.597000 T BCL6 NHL 9 392 0 0 1 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43827457 43827457 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr15:43827457G>A ENST00000420765.1 - 31 3899 c.3717C>T c.(3715-3717)tcC>tcT p.S1239S PPIP5K1_ENST00000381879.4_Silent_p.S1215S|PPIP5K1_ENST00000381885.1_Silent_p.S1235S|PPIP5K1_ENST00000360301.4_Silent_p.S1214S|PPIP5K1_ENST00000396923.3_Silent_p.S1239S|PPIP5K1_ENST00000360135.4_Silent_p.S1212S|PPIP5K1_ENST00000348806.6_Silent_p.S1212S|PPIP5K1_ENST00000334933.4_Silent_p.S1214S NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1239 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity large_intestine(1) 1 GCACCTGTGGGGACTGATTTG 0.562000 240 390 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 49 35 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27687469 27687469 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:27687469C>T ENST00000374040.3 - 13 2099 c.1839G>A c.(1837-1839)acG>acA p.T613T MAP3K6_ENST00000357582.2_Silent_p.T621T|MAP3K6_ENST00000493901.1_Silent_p.T621T O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 621 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AATCCGGGTTCGTCACCCAGG 0.716000 18 85 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48691126 48691126 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:48691126C>T ENST00000544264.1 - 9 5654 c.5374G>A c.(5374-5376)Gca>Aca p.A1792T CELSR3_ENST00000164024.4_Missense_Mutation_p.A1792T Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1792 Laminin G-like 2. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTCCGAAATGCCAGCCCCAGG 0.602000 5 451 0 0 1 0 0 RRS1 23212 broad.mit.edu 37 8 67341954 67341954 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr8:67341954G>A ENST00000320270.2 + 1 692 c.588G>A c.(586-588)gcG>gcA p.A196A NM_015169.3 NP_055984.1 Q15050 RRS1_HUMAN RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) 196 mitotic metaphase plate congression|ribosome biogenesis condensed nuclear chromosome|nucleolus kidney(2)|lung(2) 4 Lung NSC(129;0.197) Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TGGCCCGCGCGCACAAGATGC 0.652000 5 287 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 7 476 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152192080 152192080 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:152192080G>A ENST00000368801.2 - 3 2100 c.2025C>T c.(2023-2025)taC>taT p.Y675Y FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 675 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGTTGGCCGTAGCTGGAAG 0.592000 6 903 0 0 1 0 0 PRPF4 9128 broad.mit.edu 37 9 116049072 116049072 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:116049072C>T ENST00000374199.4 + 9 1297 c.896C>T c.(895-897)gCg>gTg p.A299V PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V O43172 PRP4_HUMAN pre-mRNA processing factor 4 300 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 23 GCCTCTTGTGCGGCTGATGGC 0.468000 10 1791 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15350213 15350213 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:15350213G>A ENST00000263377.2 - 17 3787 c.3566C>T c.(3565-3567)gCg>gTg p.A1189V NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 1189 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CTTTTTGGGCGCAACTGGAGT 0.627000 T C15orf55 lethal midline carcinoma of young people 8 615 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 4 57 0 0 1 0 0 NAP1L5 266812 broad.mit.edu 37 4 89618369 89618369 + Missense_Mutation SNP G G T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr4:89618369G>T ENST00000323061.5 - 1 1017 c.537C>A c.(535-537)gaC>gaA p.D179E HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 179 nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) ACTTCTTGGCGTCATCAGGCA 0.557000 5 808 1 1 1 1 0 GCNT1 2650 broad.mit.edu 37 9 79118080 79118080 + Silent SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:79118080C>T ENST00000442371.1 + 3 1722 c.783C>T c.(781-783)gtC>gtT p.V261V GCNT1_ENST00000444201.2_Silent_p.V261V|GCNT1_ENST00000536223.1_Silent_p.V261V|GCNT1_ENST00000376730.4_Silent_p.V261V NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 261 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 GGTATGAGGTCGTTAATGGAA 0.463000 124 297 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 30909555 30909555 + Missense_Mutation SNP G G T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr21:30909555G>T ENST00000399914.1 - 17 3322 c.2801C>A c.(2800-2802)gCg>gAg p.A934E GRIK1_ENST00000389125.3_Missense_Mutation_p.A905E|GRIK1_ENST00000399913.1_Missense_Mutation_p.A920E|GRIK1_ENST00000535441.1_Missense_Mutation_p.A922E|GRIK1_ENST00000327783.4_Missense_Mutation_p.A949E P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 0 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CTTGGATCACGCCACAGTCTC 0.393000 4 149 1 1 1 1 0 NRF1 4899 broad.mit.edu 37 7 129349051 129349051 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr7:129349051G>A ENST00000393232.1 + 6 860 c.743G>A c.(742-744)cGc>cAc p.R248H NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 248 generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding p.R248L(1) breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 AGTGATGTCCGCACAGAAGAG 0.493000 7 553 0 0 1 0 0 AOC4P 0 broad.mit.edu 37 17 41020316 41020316 + RNA SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:41020316G>A ENST00000585538.1 + 0 1155 NR_002773.1 CTTTGGCCTCGGAGCATTCAG 0.602000 18 123 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19365576 19365576 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr22:19365576C>T ENST00000263208.5 - 14 1685 c.1429G>A c.(1429-1431)Gca>Aca p.A477T HIRA_ENST00000546308.1_Missense_Mutation_p.A433T|HIRA_ENST00000541063.1_Missense_Mutation_p.A433T|HIRA_ENST00000340170.4_Missense_Mutation_p.A477T NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 477 Interaction with ASF1A.|Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) TTAAAGAATGCCGTGGAGAAG 0.488000 5 327 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109792751 109792751 + Missense_Mutation SNP T T C rs72003155 by1000genomes TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:109792751T>C ENST00000271332.3 + 1 111 c.50T>C c.(49-51)cTg>cCg p.L17P NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 17 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) ccgccgccgctgctgctgctg 0.751000 5 174 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40886552 40886552 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:40886552G>A ENST00000291823.2 - 3 1630 c.1346C>T c.(1345-1347)gCg>gTg p.A449V NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 449 cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) GTCGGAGACCGCATTGGTGCA 0.632000 6 839 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328648 80328648 + Missense_Mutation SNP G G C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr4:80328648G>C ENST00000358842.3 - 1 724 c.707C>G c.(706-708)tCt>tGt p.S236C NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 236 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 GATCTCAGAAGAACTGAAGAC 0.413000 29 328 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262039 39262039 + Missense_Mutation SNP C C G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:39262039C>G ENST00000391415.1 + 1 456 c.399C>G c.(397-399)agC>agG p.S133R NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 133 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament p.S133R(1)|p.S121R(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 gtgtgtccagctgctgcaagc 0.652000 4 159 0 0 1 0 0 MATN1 4146 broad.mit.edu 37 1 31188936 31188936 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:31188936G>A ENST00000373765.4 - 5 1062 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W MATN1_ENST00000477320.1_5'UTR NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein 343 VWFA 2. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) GACATATTCCGCACAGCCGCC 0.592000 7 540 0 0 1 0 0 R3HDM2 22864 broad.mit.edu 37 12 57677715 57677715 + Nonsense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:57677715G>A ENST00000402412.1 - 13 1453 c.1063C>T c.(1063-1065)Cga>Tga p.R355* R3HDM2_ENST00000441731.2_Nonsense_Mutation_p.R2*|R3HDM2_ENST00000413953.2_Nonsense_Mutation_p.R68*|R3HDM2_ENST00000403821.2_Nonsense_Mutation_p.R341*|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000347140.3_Nonsense_Mutation_p.R341*|R3HDM2_ENST00000393811.2_Nonsense_Mutation_p.R68*|R3HDM2_ENST00000358907.2_Nonsense_Mutation_p.R341* Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 341 Ser-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 ACAGGGGGTCGCATGCTCCGG 0.592000 5 521 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18668998 18668998 + Silent SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr7:18668998G>A ENST00000406451.3 + 7 831 c.681G>A c.(679-681)cgG>cgA p.R227R HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000441542.2_Silent_p.R230R|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000432645.2_Silent_p.R227R|HDAC9_ENST00000456174.2_Silent_p.R199R|HDAC9_ENST00000405010.3_Silent_p.R227R NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 227 Interaction with ETV6.|Interaction with MAPK10 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TGAAGGTGCGGTCCAGGTTAA 0.408000 33 66 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92380846 92380846 + Missense_Mutation SNP G G T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr13:92380846G>T ENST00000377067.3 + 4 1453 c.1081G>T c.(1081-1083)Gat>Tat p.D361Y GPC5_ENST00000483422.1_3'UTR NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 361 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TTGTTCTTTTGATCAGAGCAA 0.398000 5 508 0.0215528 0.0217551 1 1 0 PRDM2 7799 broad.mit.edu 37 1 14108213 14108213 + Missense_Mutation SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:14108213G>A ENST00000235372.7 + 8 4779 c.3923G>A c.(3922-3924)cGt>cAt p.R1308H PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1308 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TACCATCACCGTAACCCCATG 0.443000 6 775 0 0 1 0 0 ZNF883 169834 broad.mit.edu 37 9 115759599 115759599 + RNA SNP G G A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:115759599G>A ENST00000427548.1 - 0 2214 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding TCCTGTATGCGTCCTCTGATG 0.378000 186 283 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8100716 8100716 + Missense_Mutation SNP C C A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr10:8100716C>A ENST00000379328.3 + 3 1258 c.690C>A c.(688-690)agC>agA p.S230R GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.S230R NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 230 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 CCGAGTACAGCTCCGGACTCT 0.697000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 86 366 6.14238e-36 6.50548e-36 1 1 0 FXYD6 53826 broad.mit.edu 37 11 117711040 117711040 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:117711040C>T ENST00000526014.1 - 6 848 c.253G>A c.(253-255)Gcc>Acc p.A85T FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000584230.1_Missense_Mutation_p.A85T|FXYD6_ENST00000260282.4_Missense_Mutation_p.A85T|FXYD6_ENST00000524656.1_Missense_Mutation_p.A85T|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000539526.1_Missense_Mutation_p.A85T|FXYD6_ENST00000540359.1_Missense_Mutation_p.A85T|FXYD6_ENST00000530956.1_Missense_Mutation_p.A85T|FXYD6_ENST00000529335.2_Intron|FXYD6_ENST00000527717.1_Missense_Mutation_p.A85T|FXYD6_ENST00000527429.1_Missense_Mutation_p.A85T|FXYD6-FXYD2_ENST00000532984.1_Silent_p.P72P NM_022003.3 NP_071286.1 FXYD domain containing ion transport regulator 6 central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1) 8 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122) TTACCATTGGCGGTGATGAGG 0.597000 5 466 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73474290 73474290 + Missense_Mutation SNP T T G TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr7:73474290T>G ENST00000252034.7 + 23 1888 c.1489T>G c.(1489-1491)Ttg>Gtg p.L497V ELN_ENST00000429192.1_Missense_Mutation_p.L483V|ELN_ENST00000320399.6_Missense_Mutation_p.L497V|ELN_ENST00000380576.5_Missense_Mutation_p.L478V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000320492.7_Missense_Mutation_p.L416V|ELN_ENST00000458204.1_Missense_Mutation_p.L487V|ELN_ENST00000380575.4_Missense_Mutation_p.L468V|ELN_ENST00000414324.1_Missense_Mutation_p.L473V|ELN_ENST00000380562.4_Missense_Mutation_p.L503V|ELN_ENST00000357036.5_Missense_Mutation_p.L502V|ELN_ENST00000445912.1_Missense_Mutation_p.L497V|ELN_ENST00000380584.4_Missense_Mutation_p.L464V|ELN_ENST00000358929.4_Missense_Mutation_p.L532V|ELN_ENST00000380553.4_Missense_Mutation_p.L361V NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 526 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TGGAGTTGGCTTGGCTCCTGG 0.607000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 210 743 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2716164 2716164 + Missense_Mutation SNP C C T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:2716164C>T ENST00000399655.1 + 26 3489 c.3224C>T c.(3223-3225)aCg>aTg p.T1075M CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1075M|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1095M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1100M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1075M NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1095 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AACTACATCACGTACAAAGAC 0.557000 62 63 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 5 627 0 0 1 0 0 TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 8 898 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 10 234 --- --- --- --- BCAN 63827 broad.mit.edu 37 1 156626160 156626160 + Frame_Shift_Del DEL G G - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:156626160delG ENST00000329117.4 + 9 2365 c.2029delG c.(2029-2031)ggfs p.G678fs RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 678 EGF-like. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCTGGCTATGGGGGGGACCT 0.622 8 898 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 10 328 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 7 198 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276542 186276544 + In_Frame_Del DEL CTC CTC - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:186276542_186276544delCTC ENST00000445192.2 + 7 1736_1738 c.1691_1693delCTC c.(1690-1695)acc>a p.TP564del PRG4_ENST00000367483.4_In_Frame_Del_p.TP523del|PRG4_ENST00000367485.4_In_Frame_Del_p.TP471del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_In_Frame_Del_p.TP521del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 564 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GCACCCACCACTCCCAAGGAGCC 0.640 9 669 --- --- --- --- CR1L 1379 broad.mit.edu 37 1 207867814 207867814 + Frame_Shift_Del DEL A A - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr1:207867814delA ENST00000508064.2 + 5 640 c.580delA c.(580-582)aafs p.K195fs CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 195 Sushi 3. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AAGCAGAGGGAAAAAGGTGTT 0.507 9 849 --- --- --- --- SOX11 6664 broad.mit.edu 37 2 5833526 5833528 + In_Frame_Del DEL GAC GAC - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:5833526_5833528delGAC ENST00000322002.3 + 1 728_730 c.673_675delGAC c.(673-675)del p.D233del NM_003108.3 NP_003099.1 P35716 SOX11_HUMAN SRY (sex determining region Y)-box 11 233 Poly-Asp. cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) TCTGGATGAGgacgacgacgacg 0.700 7 150 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 7 218 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58655794 58655796 + RNA DEL TGC TGC - rs10589511 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:58655794_58655796delTGC ENST00000452840.1 + 0 127 TCTGTTCGTTtgctgctgctgct 0.700 2 4 --- --- --- --- ANKRD36 375248 broad.mit.edu 37 2 97808574 97808575 + Splice_Site INS - - A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:97808574_97808575insA ENST00000420699.2 + 8 1145 c.e8+2 ANKRD36_ENST00000461153.2_Splice_Site NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 p.?(1) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CTGGGACAGGTATTTTGGAATA 0.366 27 28 --- --- --- --- LIPT1 51601 broad.mit.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:99778781delA ENST00000393477.3 + 4 713 c.361delA c.(361-363)aafs p.K123fs MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393473.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 123 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) CTTTACAACCAAAAAAAAGTA 0.388 12 349 --- --- --- --- PLA2R1 0 broad.mit.edu 37 2 160801441 160801442 + Frame_Shift_Ins INS - - T TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:160801441_160801442insT ENST00000283243.7 - 28 4325_4326 c.4119_4120insA c.(4117-4122)aagcttfs p.L1374fs PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1374 C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CATATAAAGCCTTTTTTTTCTT 0.401 9 854 --- --- --- --- SCN7A 6332 broad.mit.edu 37 2 167313539 167313540 + Frame_Shift_Ins INS - - A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:167313539_167313540insA ENST00000409855.1 - 10 1256_1257 c.1130_1131insT c.(1129-1131)gagfs p.E377fs NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 377 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ACAAAAAACTTACCACCACAAA 0.347 50 94 --- --- --- --- RP11-13J8.1 0 broad.mit.edu 37 2 201967218 201967218 + RNA DEL G G - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:201967218delG ENST00000448256.1 + 0 628 aaaaaaaaaagaaTTTGTTCT 0.463 7 37 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:202352352delT ENST00000439140.1 - 16 5490 c.5446delA c.(5446-5448)ttfs p.I1816fs ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 619 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CCTCTTTTAATTTTTTTTGGC 0.323 7 351 --- --- --- --- SLC11A1 6556 broad.mit.edu 37 2 219252307 219252307 + Frame_Shift_Del DEL T T - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:219252307delT ENST00000233202.6 + 7 931 c.591delT c.(589-591)gcfs p.A197fs SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 197 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGGAAGCTTTTTTTGGAC 0.448 7 1976 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.626 16 444 --- --- --- --- EFHD1 80303 broad.mit.edu 37 2 233546363 233546365 + In_Frame_Del DEL GGA GGA - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr2:233546363_233546365delGGA ENST00000264059.3 + 4 1131_1133 c.654_656delGGA c.(652-657)cgg>cg p.RE218del EFHD1_ENST00000409708.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000410095.1_In_Frame_Del_p.RE106del|EFHD1_ENST00000409613.1_In_Frame_Del_p.RE122del NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 218 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGCGGAAGCGGGAGGAGGAGGAG 0.547 11 548 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - - C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:42679035_42679036insC ENST00000232978.8 + 13 2027_2028 c.1839_1840insC c.(1837-1842)agccccfs p.SP613fs RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 613 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) TGAGTGACAGTCCCCCCCCTTC 0.421 8 813 --- --- --- --- CCR3 1232 broad.mit.edu 37 3 46306948 46306948 + Frame_Shift_Del DEL T T - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:46306948delT ENST00000357422.2 + 4 842 c.299delT c.(298-300)gtfs p.V100fs CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 100 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CATAACTGGGTTTTTGGCCAT 0.488 7 1252 --- --- --- --- PARP3 10039 broad.mit.edu 37 3 51978150 51978152 + In_Frame_Del DEL AAC AAC - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:51978150_51978152delAAC ENST00000417220.2 + 4 717_719 c.229_231delAAC c.(229-231)del p.N80del PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 80 N -> K (in Ref. 2; AAD29855). DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CAACATCGAGAACAACAACAACA 0.596 8 959 --- --- --- --- EBLN2 55096 broad.mit.edu 37 3 73111481 73111482 + Frame_Shift_Ins INS - - A rs147131789 by1000genomes TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:73111481_73111482insA ENST00000533473.1 + 1 672_673 c.249_250insA c.(247-252)aagacafs p.T84fs PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron NM_018029.3 NP_060499.3 Q6P2I7 EBLN2_HUMAN endogenous Bornavirus-like nucleoprotein 2 84 protein binding endometrium(1)|large_intestine(3)|lung(1)|prostate(1) 6 CTGGGAAAAACAGACAGTATCC 0.480 16 53 --- --- --- --- TBC1D23 55773 broad.mit.edu 37 3 100039735 100039736 + Frame_Shift_Ins INS - - A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:100039735_100039736insA ENST00000394144.4 + 18 1945_1946 c.1938_1939insA c.(1936-1941)tcaaaafs p.SK646fs TBC1D23_ENST00000475134.1_Frame_Shift_Ins_p.SK509fs|TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.SK631fs|TBC1D23_ENST00000486274.1_3'UTR NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 646 intracellular Rab GTPase activator activity p.?(2)|p.H650fs*3(1)|p.H635fs*3(1) breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 AAATTACATCCAAAAAAAAACA 0.356 10 253 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 15 1073 --- --- --- --- MYLK 4638 broad.mit.edu 37 3 123368043 123368044 + Splice_Site INS - - G rs138786404 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:123368043_123368044insG ENST00000360772.3 - 26 4667 c.e26-2 MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000346322.5_Splice_Site|MYLK_ENST00000475616.1_Splice_Site Q15746 MYLK_HUMAN myosin light chain kinase aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTTCGGCTCTGGGGGGGGCAC 0.624 8 418 --- --- --- --- MECOM 2122 broad.mit.edu 37 3 168833756 168833762 + Frame_Shift_Del DEL TTATTAT TTATTAT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr3:168833756_168833762delTTATTAT ENST00000464456.1 - 7 2534_2540 c.1334_1340delATAATAA c.(1333-1341)agfs p.NNK445fs MECOM_ENST00000433243.2_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.NNK510fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.NNK633fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.NNK445fs NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GTATTCTTTCTTATTATTTATTGAAGC 0.348 94 220 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389456 1389457 + Frame_Shift_Del DEL CA CA - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr4:1389456_1389457delCA ENST00000324803.4 + 1 4117_4118 c.1157_1158delCA c.(1156-1158)tfs p.S386fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 386 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCTGCCTGCTCACACACGTGCC 0.639 7 1250 --- --- --- --- N4BP2 55728 broad.mit.edu 37 4 40144449 40144449 + Frame_Shift_Del DEL A A - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr4:40144449delA ENST00000261435.6 + 15 5358 c.4942delA c.(4942-4944)aafs p.K1649fs NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 1649 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TCGGATAGGGAAAAAAAATGT 0.398 8 342 --- --- --- --- GNPDA2 132789 broad.mit.edu 37 4 44724119 44724120 + Frame_Shift_Ins INS - - A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr4:44724119_44724120insA ENST00000509756.1 - 2 211_212 c.105_106insT c.(103-108)ttcactfs p.T36fs GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507534.1_Intron|GNPDA2_ENST00000507917.1_Frame_Shift_Ins_p.T36fs|GNPDA2_ENST00000295448.3_Frame_Shift_Ins_p.T36fs Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 36 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity endometrium(2)|large_intestine(1)|lung(7)|ovary(1) 11 AAACCCAGTGTAAAATATCTGT 0.332 106 91 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 7 289 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 10 286 --- --- --- --- MYO10 4651 broad.mit.edu 37 5 16694605 16694606 + Frame_Shift_Ins INS - - C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:16694605_16694606insC ENST00000513610.1 - 27 4128_4129 c.3674_3675insG c.(3673-3675)gtcfs p.V1225fs MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1225 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity p.S1226fs*25(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GCGTGGAGGAGCCCCCCCCTTT 0.564 8 733 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 8 1251 --- --- --- --- PAM 5066 broad.mit.edu 37 5 102309949 102309949 + Frame_Shift_Del DEL A A - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:102309949delA ENST00000438793.3 + 14 1762 c.1292delA c.(1291-1293)cafs p.Q431fs PAM_ENST00000455264.2_Frame_Shift_Del_p.Q431fs|PAM_ENST00000346918.2_Frame_Shift_Del_p.Q431fs|PAM_ENST00000274392.9_Frame_Shift_Del_p.Q334fs|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Frame_Shift_Del_p.Q431fs|PAM_ENST00000348126.2_Intron NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 431 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) AATGTAGTCCAAAAAAAGGAT 0.423 7 475 --- --- --- --- BTNL8 79908 broad.mit.edu 37 5 180374632 180374633 + Frame_Shift_Del DEL GA GA - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr5:180374632_180374633delGA ENST00000231229.4 + 4 1028_1029 c.794_795delGA c.(793-795)cfs p.R265fs BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000505126.1_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 265 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGTGTAAGCGAGAGAGAGAAG 0.495 13 1720 --- --- --- --- RREB1 6239 broad.mit.edu 37 6 7230570 7230570 + Frame_Shift_Del DEL C C - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr6:7230570delC ENST00000379938.2 + 10 2775 c.2238delC c.(2236-2238)gafs p.D746fs RREB1_ENST00000349384.6_Frame_Shift_Del_p.D746fs|RREB1_ENST00000334984.6_Frame_Shift_Del_p.D746fs|RREB1_ENST00000379933.3_Frame_Shift_Del_p.D746fs NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 746 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGCTGGTGGACGCCTTCTGCG 0.662 146 114 --- --- --- --- BTN2A2 10385 broad.mit.edu 37 6 26384091 26384093 + In_Frame_Del DEL CCT CCT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr6:26384091_26384093delCCT ENST00000356709.4 + 2 153_155 c.42_44delCCT c.(40-45)tcc>tc p.SL14del BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 14 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 TGCCAGCCTCcctcctcctcctc 0.581 11 439 --- --- --- --- SEC63 11231 broad.mit.edu 37 6 108214774 108214774 + Frame_Shift_Del DEL T T - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr6:108214774delT ENST00000369002.4 - 16 1765 c.1586delA c.(1585-1587)agfs p.K530fs NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 530 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding p.K529fs*4(1) endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TAAAGGTTTCTTTTTTTTTGA 0.368 13 333 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 7 446 --- --- --- --- ICA1 3382 broad.mit.edu 37 7 8196560 8196578 + Frame_Shift_Del DEL AAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA - rs147272214 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr7:8196560_8196578delAAAAAAAAAAAAAAAAAAA ENST00000407906.1 - 8 1223_1241 c.972_990delTTTTTTTTTTTTTTTTTTT c.(970-990)ttfs p.FFFFFFF324fs ICA1_ENST00000402384.3_Intron|ICA1_ENST00000401396.1_Intron|ICA1_ENST00000396675.3_Intron|ICA1_ENST00000422063.2_Intron|ICA1_ENST00000406470.2_Intron|ICA1_ENST00000265577.7_Intron Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 0 neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) CTGATGCAGTaaaaaaaaaaaaaaaaaaaaaaaaagaaa 0.370 8 5 --- --- --- --- CPVL 54504 broad.mit.edu 37 7 29070262 29070262 + Frame_Shift_Del DEL T T - rs5883182 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr7:29070262delT ENST00000409850.1 - 16 1897 c.1251delA c.(1249-1251)aafs p.K417fs CPVL_ENST00000265394.5_Frame_Shift_Del_p.K417fs|CPVL_ENST00000396276.3_Frame_Shift_Del_p.K417fs Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 417 proteolysis protein binding|serine-type carboxypeptidase activity p.V418fs*24(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 TCTTCCAAACTTTTTTTTCTG 0.507 7 1006 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284925 38284934 + RNA DEL TGTGACTGTG TGTGACTGTG - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr7:38284925_38284934delTGTGACTGTG ENST00000436911.2 - 0 330 tgagtgtgtctgtgactgtgtgtAATTAAA 0.371 15 170 --- --- --- --- STX1A 6804 broad.mit.edu 37 7 73123425 73123427 + In_Frame_Del DEL CAT CAT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr7:73123425_73123427delCAT ENST00000222812.3 - 2 82_84 c.56_58delATG c.(55-60)gtc>g p.DV19del STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 19 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GTGACAGCGACATCATCATCATC 0.586 9 734 --- --- --- --- STAG3L2 0 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 16 16 --- --- --- --- TRBV7-6 0 broad.mit.edu 37 7 142139683 142139684 + RNA INS - - A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr7:142139683_142139684insA ENST00000390374.3 - 0 94 cctacacacaGAAAAAAAAATG 0.490 11 437 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 12 275 --- --- --- --- KCNU1 157855 broad.mit.edu 37 8 36768517 36768518 + Frame_Shift_Ins INS - - C TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr8:36768517_36768518insC ENST00000399881.3 + 22 2438_2439 c.2401_2402insC c.(2401-2403)cccfs p.P801fs NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 801 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TGCTGTCTTGTCCCCCCCACCC 0.525 18 531 --- --- --- --- FGFR1 2260 broad.mit.edu 37 8 38285914 38285916 + In_Frame_Del DEL TCA TCA - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr8:38285914_38285916delTCA ENST00000447712.2 - 4 1337_1339 c.396_398delTGA c.(394-399)gac>ga p.DD132del FGFR1_ENST00000532791.1_In_Frame_Del_p.DD132del|FGFR1_ENST00000425967.3_In_Frame_Del_p.DD165del|FGFR1_ENST00000397091.5_In_Frame_Del_p.DD132del|FGFR1_ENST00000397103.1_In_Frame_Del_p.DD43del|FGFR1_ENST00000397108.4_In_Frame_Del_p.DD132del|FGFR1_ENST00000397113.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000356207.5_In_Frame_Del_p.DD43del|FGFR1_ENST00000341462.5_In_Frame_Del_p.DD135del|FGFR1_ENST00000335922.5_In_Frame_Del_p.DD124del|FGFR1_ENST00000326324.6_In_Frame_Del_p.DD43del NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 132 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.D133N(3)|p.D44N(1) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TGAAGAGGAGtcatcatcatcat 0.498 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 9 252 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 10 857 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61769038 61769040 + In_Frame_Del DEL GGA GGA - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr8:61769038_61769040delGGA ENST00000423902.2 + 34 7678_7680 c.7199_7201delGGA c.(7198-7203)cgg>c p.RR2404del CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2404 Poly-Arg. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CCTCGCCAGCGGAGGAGGAGGAG 0.512 8 172 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145000951 145000953 + Splice_Site DEL CCT CCT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr8:145000951_145000953delCCT ENST00000322810.4 - 30 4623_4625 c.4455_splice c.e30+1 p.G1485_splice PLEC_ENST00000354589.3_Splice_Site_p.G1348_splice|PLEC_ENST00000345136.3_Splice_Site_p.G1348_splice|PLEC_ENST00000357649.2_Splice_Site_p.G1352_splice|PLEC_ENST00000356346.3_Splice_Site_p.G1334_splice|PLEC_ENST00000436759.2_Splice_Site_p.G1375_splice|PLEC_ENST00000527096.1_Splice_Site_p.G1371_splice|PLEC_ENST00000398774.2_Splice_Site_p.G1316_splice|PLEC_ENST00000354958.2_Splice_Site_p.G1326_splice NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1485 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACGGGCTGTACCTCCTCCTCCTC 0.621 7 684 --- --- --- --- RP11-204M4.2 0 broad.mit.edu 37 9 41962602 41962602 + RNA DEL G G - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr9:41962602delG ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373 9 346 --- --- --- --- ERCC6 2074 broad.mit.edu 37 10 50732139 50732141 + In_Frame_Del DEL CCT CCT - rs4253047 byFrequency TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr10:50732139_50732141delCCT ENST00000355832.5 - 5 1413_1415 c.1335_1337delAGG c.(1333-1338)ggt>gg p.GG445del PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del|ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 445 Gly-rich. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CACTTTCCGACCTCCTCCTCCTC 0.458 Direct reversal of damage;Nucleotide excision repair (NER) 8 759 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828745 61828747 + In_Frame_Del DEL GTG GTG - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr10:61828745_61828747delGTG ENST00000280772.1 - 37 12083_12085 c.11892_11894delCAC c.(11890-11895)act>ac p.TT3964del ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3964 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ggtggtggcagtggtggtggtgg 0.498 10 665 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 9 225 --- --- --- --- C10orf82 143379 broad.mit.edu 37 10 118424338 118424338 + Frame_Shift_Del DEL T T - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr10:118424338delT ENST00000369210.3 - 4 449 c.395delA c.(394-396)acfs p.N132fs C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs NM_144661.2 NP_653262.1 Q8WW14 CJ082_HUMAN chromosome 10 open reading frame 82 132 endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all cancers(201;0.0143) CTTGTAGCAGTTTTTGGCCAT 0.567 7 856 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT GGTGGT - rs59413596 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:47788664_47788669delGGTGGT ENST00000263773.5 - 1 184_189 c.172_177delACCACC c.(172-177)del p.TT58del FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58 p.T58_T59delTT(3) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 11 16 --- --- --- --- TMEM132A 54972 broad.mit.edu 37 11 60703785 60703787 + In_Frame_Del DEL GGA GGA - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:60703785_60703787delGGA ENST00000005286.4 + 11 2634_2636 c.2481_2483delGGA c.(2479-2484)agg>ag p.RE827del TMEM132A_ENST00000453848.2_In_Frame_Del_p.RE826del NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 826 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich. endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCGAAGCCAGggaggaggaggag 0.635 8 670 --- --- --- --- LRFN4 78999 broad.mit.edu 37 11 66625231 66625233 + In_Frame_Del DEL CTG CTG - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:66625231_66625233delCTG ENST00000309602.4 + 1 259_261 c.16_18delCTG c.(16-18)del p.L10del PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|LRFN4_ENST00000531590.1_3'UTR NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 10 integral to membrane breast(1)|lung(1)|prostate(1) 3 CCCGCCGCTCCTGCTGCTGCTGC 0.719 10 272 --- --- --- --- NDUFV1 4723 broad.mit.edu 37 11 67376194 67376195 + Splice_Site DEL GT GT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:67376194_67376195delGT ENST00000322776.6 + 3 479 c.e3+1 NDUFV1_ENST00000529927.1_Splice_Site|NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000532303.1_Splice_Site|NDUFV1_ENST00000526169.1_Splice_Site NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) CAGATGGCAGGTGTGTGTGTGG 0.599 7 589 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694430 75694431 + Splice_Site INS - - A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:75694430_75694431insA ENST00000356136.3 + 8 940_941 c.e8-1 UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TATTTATTTAGAAAAAAAAAAG 0.302 8 200 --- --- --- --- IFT46 56912 broad.mit.edu 37 11 118427683 118427685 + In_Frame_Del DEL ATC ATC - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr11:118427683_118427685delATC ENST00000264020.2 - 5 651_653 c.274_276delGAT c.(274-276)del p.D92del IFT46_ENST00000264021.3_In_Frame_Del_p.D41del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 41 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 TTTCAGATGAatcatcatcatca 0.478 7 484 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49427251 49427265 + In_Frame_Del DEL TGCTGCTGCTGCTGT TGCTGCTGCTGCTGT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:49427251_49427265delTGCTGCTGCTGCTGT ENST00000301067.7 - 39 11222_11236 c.11223_11237delACAGCAGCAGCAGCA c.(11221-11238)cac>ca p.QQQQQH3741del NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.Q3475*(1)|p.Q3745*(1) TCCTAGAAGGtgctgctgctgctgttgctgctgct 0.591 35 56 --- --- --- --- MARS 4141 broad.mit.edu 37 12 57883053 57883053 + Frame_Shift_Del DEL T T - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:57883053delT ENST00000262027.5 + 3 338 c.204delT c.(202-204)tafs p.Y68fs MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_Intron NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 68 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TGGGCAGATATTTTTTTTTGT 0.488 8 362 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88566417 88566417 + Frame_Shift_Del DEL T T - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:88566417delT ENST00000266712.6 + 8 1314 c.1094delT c.(1093-1095)ctfs p.L365fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 365 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GCATCGAACCTTTTTTTTCCA 0.313 8 498 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000357500.4_In_Frame_Del_p.E153del|POP5_ENST00000542776.1_5'UTR NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 7 668 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000400103.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 9 383 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671273 25671273 + Frame_Shift_Del DEL G G - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr13:25671273delG ENST00000281589.3 + 1 974 c.937delG c.(937-939)cgfs p.A313fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 313 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TCTCCGGAAAGCGTTTTCTCC 0.408 21 1277 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27250862 27250863 + Splice_Site DEL GT GT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr13:27250862_27250863delGT ENST00000335327.5 + 7 894 c.e7+1 WASF3_ENST00000361042.4_Intron NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAGATACTAGGTGTGTGTGTGT 0.475 12 443 --- --- --- --- ZC3H13 23091 broad.mit.edu 37 13 46549613 46549614 + Frame_Shift_Del DEL CT CT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr13:46549613_46549614delCT ENST00000242848.4 - 12 2620_2621 c.2272_2273delAG c.(2272-2274)gfs p.R758fs ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R758fs Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 758 Arg/Glu-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ctctctctccctctctctctct 0.530 7 232 --- --- --- --- MMP14 4323 broad.mit.edu 37 14 23312996 23312996 + Frame_Shift_Del DEL A A - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr14:23312996delA ENST00000311852.6 + 6 1189 c.928delA c.(928-930)aafs p.K310fs MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 310 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TGATAAACCCAAAAACCCCAC 0.577 7 831 --- --- --- --- RP11-407N17.3 0 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000556148.1_Intron|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs TTGCTGTTCTCTTTTTTTTGTG 0.371 7 290 --- --- --- --- CHEK2P2 0 broad.mit.edu 37 15 20490739 20490739 + RNA DEL G G - rs143465906 TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr15:20490739delG ENST00000555186.1 + 0 568 NR_038836.1 GTTACAACCTGtttttttttt 0.423 9 311 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709277 22709278 + RNA INS - - A TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr15:22709277_22709278insA ENST00000314246.8 - 0 1157 CTCTGGATTCCAaaaaaaaaag 0.515 9 20 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 17 164 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5313074 5313076 + RNA DEL GGT GGT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:5313074_5313076delGGT ENST00000569895.1 + 0 304 GCAGggtgacggtggtggtggtg 0.483 8 224 --- --- --- --- KIAA0430 9665 broad.mit.edu 37 16 15729982 15729984 + In_Frame_Del DEL CCA CCA - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:15729982_15729984delCCA ENST00000396368.3 - 3 566_568 c.360_362delTGG c.(358-363)ggc>gg p.GG120del KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 119 Poly-Gly. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCCGCTACCGCCACCACCACCAC 0.532 9 656 --- --- --- --- ATXN2L 11273 broad.mit.edu 37 16 28847356 28847356 + Frame_Shift_Del DEL C C - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:28847356delC ENST00000336783.4 + 22 3165 c.2998delC c.(2998-3000)ccfs p.P1001fs ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.P1001fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.P1007fs NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 1001 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TCATGGGGGGCCCCCCCAAGG 0.687 7 814 --- --- --- --- ZNF629 23361 broad.mit.edu 37 16 30793261 30793261 + Frame_Shift_Del DEL G G - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:30793261delG ENST00000262525.4 - 3 2595 c.2388delC c.(2386-2388)ccfs p.P796fs NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 796 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) CCTCGGGATTGGGGGGTTTTT 0.652 8 1314 --- --- --- --- OGFOD1 55239 broad.mit.edu 37 16 56509438 56509439 + Frame_Shift_Ins INS - - G rs147207036 by1000genomes TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:56509438_56509439insG ENST00000566157.1 + 12 1551_1552 c.1428_1429insG c.(1426-1431)gggtttfs p.F477fs OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.F434fs NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 477 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) CAGAATATGGCGGTTTTACTTC 0.371 8 584 --- --- --- --- NPIPB15 440348 broad.mit.edu 37 16 74425400 74425402 + In_Frame_Del DEL CAA CAA - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr16:74425400_74425402delCAA ENST00000429990.1 + 7 850_852 c.754_756delCAA c.(754-756)del p.Q253del nuclear pore complex interacting protein family, member B15 TCCTCCAACTCAACAACATTCTA 0.517 10 308 --- --- --- --- PHF23 79142 broad.mit.edu 37 17 7139572 7139572 + Frame_Shift_Del DEL T T - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:7139572delT ENST00000320316.3 - 4 900 c.674delA c.(673-675)agfs p.K225fs PHF23_ENST00000454255.2_Frame_Shift_Del_p.K221fs|PHF23_ENST00000576955.1_Frame_Shift_Del_p.K95fs|PHF23_ENST00000571362.1_Frame_Shift_Del_p.K158fs NM_024297.2 NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 225 zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 CCGTTCTGCCTTTTTTAACTT 0.577 7 633 --- --- --- --- AMZ2P1 0 broad.mit.edu 37 17 62968575 62968575 + RNA DEL T T - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr17:62968575delT ENST00000430983.1 - 0 1593 NR_026903.1 TTGGTTGGAATTTTTTTCCCT 0.333 7 137 --- --- --- --- LAMA1 284217 broad.mit.edu 37 18 7038885 7038885 + Frame_Shift_Del DEL T T - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr18:7038885delT ENST00000389658.3 - 11 1580 c.1487delA c.(1486-1488)acfs p.N496fs NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 496 Laminin EGF-like 4. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCCCGGGGGTTTTTTTCCTT 0.532 7 737 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48604761 48604764 + Frame_Shift_Del DEL ACTT ACTT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr18:48604761_48604764delACTT ENST00000342988.3 + 12 2121_2124 c.1583_1586delACTT c.(1582-1587)cafs p.HL528fs SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.HL528fs|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.HL432fs NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 528 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2)|p.L529fs*7(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) ATTGAAATTCACTTACACCGGGCC 0.495 172 182 --- --- --- --- FUT3 2525 broad.mit.edu 37 19 5844672 5844673 + Frame_Shift_Ins INS - - G rs148881389 byFrequency TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:5844672_5844673insG ENST00000303225.6 - 3 812_813 c.178_179insC c.(178-180)cccfs p.P60fs FUT3_ENST00000458379.2_Frame_Shift_Ins_p.P60fs|FUT3_ENST00000589918.1_Frame_Shift_Ins_p.P60fs|FUT3_ENST00000589620.1_Frame_Shift_Ins_p.P60fs NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 60 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GAGGGTGGGGCGGGTGGGAGTG 0.634 12 283 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 12 123 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 10 166 --- --- --- --- SERTAD1 29950 broad.mit.edu 37 19 40929409 40929411 + In_Frame_Del DEL CTC CTC - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:40929409_40929411delCTC ENST00000357949.4 - 2 201_203 c.43_45delGAG c.(43-45)del p.E15del NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 15 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTTCCTTCTCCTCCTCCTCC 0.557 7 461 --- --- --- --- PLAUR 5329 broad.mit.edu 37 19 44174235 44174237 + In_Frame_Del DEL AGC AGC - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:44174235_44174237delAGC ENST00000221264.4 - 1 462_464 c.36_38delGCT c.(34-39)ctc>ct p.LL12del PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del|PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del NM_001005377.2 NP_001005377.1 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 12 attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) GCAGGTGTGGagcagcagcagca 0.660 7 560 --- --- --- --- GLTSCR1 29998 broad.mit.edu 37 19 48197891 48197891 + Frame_Shift_Del DEL C C - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr19:48197891delC ENST00000396720.3 + 8 2997 c.2803delC c.(2803-2805)ccfs p.P940fs CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 940 Poly-Pro. protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GCCGGCAGCACCCCCCCCACC 0.672 12 311 --- --- --- --- CHGB 1114 broad.mit.edu 37 20 5903283 5903285 + In_Frame_Del DEL GAG GAG - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr20:5903283_5903285delGAG ENST00000378961.4 + 4 697_699 c.493_495delGAG c.(493-495)del p.E169del NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 169 Poly-Glu. extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGAGAGGATGAGGAGGAGGAGG 0.532 7 295 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146805 21146805 + RNA DEL G G - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr20:21146805delG ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA TTTTTTTTTTGTCCATGAGGC 0.383 10 126 --- --- --- --- BPIFB3 359710 broad.mit.edu 37 20 31644477 31644477 + Frame_Shift_Del DEL T T - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr20:31644477delT ENST00000375494.3 + 2 254 c.254delT c.(253-255)gtfs p.V85fs NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 85 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding CACGGAGGGGTTTTTGGCGTT 0.587 10 497 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 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) CCTTCAGGCCTTTTTCCGGCA 0.502 10 1942 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chr22:36689419_36689421delCCT ENST00000216181.5 - 30 4279_4281 c.4049_4051delAGG c.(4048-4053)gcc>g p.EA1350del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1350 E -> EE (in Ref. 7). actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGTGCTTGGCCTCCTCCTCCTC 0.650 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 8 388 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44894229 44894232 + Splice_Site DEL AAGT AAGT - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chrX:44894229_44894232delAAGT ENST00000377967.4 + 7 659_660 c.619_splice c.e7+1 p.E206_splice KDM6A_ENST00000382899.4_Splice_Site_p.E206_splice|KDM6A_ENST00000543216.1_Splice_Site_p.E206_splice|KDM6A_ENST00000536777.1_Splice_Site_p.E206_splice NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 206 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(12)|p.0?(6)|p.?(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CCAATGCTGAAAGTAAGTATTATT 0.333 """D, N, F, S""" """renal, oesophageal SCC, MM""" 121 65 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chrX:70360680_70360682delGCA ENST00000333646.6 + 42 6448_6450 c.6249_6251delGCA c.(6247-6252)cgg>cg p.RQ2083del MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2080 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) accacatccggcagcagcagcag 0.586 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 7 188 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994639 140994641 + In_Frame_Del DEL CTC CTC - rs144357389 byFrequency TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chrX:140994639_140994641delCTC ENST00000285879.4 + 4 1735_1737 c.1449_1451delCTC c.(1447-1452)agc>ag p.SS487del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.473 HNSCC(15;0.026) 7 805 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-IB-A5SP-01A-11D-A32N-08 TCGA-IB-A5SP-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx cd4faec8-6fae-4ef2-95e0-7bbaea030219 c87e1799-db25-4e22-a193-f020949f79ac g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 502 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AAGCcagcaacagcagcagcagc 0.532 7 234 --- --- --- ---