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 ZFPM2 23414 broad.mit.edu 37 8 106811063 106811063 + Missense_Mutation SNP C C T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr8:106811063C>T ENST00000407775.2 + 7 1101 c.851C>T c.(850-852)tCa>tTa p.S284L ZFPM2_ENST00000517361.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S15L|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S152L|ZFPM2_ENST00000522296.1_3'UTR NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 284 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.S284L(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GCTCCGGTGTCAGAGGAAAAT 0.527000 47 133 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149460527 149460527 + Missense_Mutation SNP G G A rs139635308 TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr5:149460527G>A ENST00000286301.3 - 3 401 c.110C>T c.(109-111)aCg>aTg p.T37M CSF1R_ENST00000543093.1_Missense_Mutation_p.T37M NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 37 Ig-like C2-type 1. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity p.T37M(3) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CAAGGTCACCGTTGCTCCTGG 0.597000 14 43 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34015923 34015923 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr1:34015923G>A ENST00000373381.4 - 56 8947 c.8771C>T c.(8770-8772)cCg>cTg p.P2924L NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2899 Sushi 21. integral to membrane|plasma membrane protein binding p.P2780L(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGAGTGAGGCGGGGAGCCCGG 0.572000 23 92 0 0 1 0 0 PCDHB10 0 broad.mit.edu 37 5 140573541 140573541 + Silent SNP C C T rs17844565 byFrequency TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr5:140573541C>T ENST00000239446.4 + 1 1600 c.1416C>T c.(1414-1416)agC>agT p.S472S NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 472 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.S472S(1) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACATCGGCAGCGTCAGCGCCA 0.662000 6 111 0 0 1 0 0 DGCR14 8220 broad.mit.edu 37 22 19121828 19121828 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr22:19121828G>A ENST00000252137.6 - 10 1355 c.1312C>T c.(1312-1314)Ccc>Tcc p.P438S NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 438 nervous system development catalytic step 2 spliceosome p.P438S(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) GTGCTTGTGGGGGTCTGCAGC 0.692000 16 35 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218679689 218679689 + Missense_Mutation SNP A A C TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr2:218679689A>C ENST00000171887.4 - 25 4815 c.4363T>G c.(4363-4365)Ttt>Gtt p.F1455V TNS1_ENST00000430930.1_Missense_Mutation_p.F1434V|TNS1_ENST00000419504.1_Missense_Mutation_p.F1442V NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1455 cytoplasm|cytoskeleton|focal adhesion actin binding p.F1455V(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TCCTGGACAAACTTCACTTTA 0.498000 16 34 0 0 1 0 0 FBXO5 26271 broad.mit.edu 37 6 153292428 153292428 + Missense_Mutation SNP T T C TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr6:153292428T>C ENST00000367241.3 - 5 1456 c.1076A>G c.(1075-1077)tAt>tGt p.Y359C FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000229758.3_Missense_Mutation_p.Y405C NM_001142522.1 NP_001135994.1 Q9UKT4 FBX5_HUMAN F-box protein 5 405 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm|spindle metal ion binding|protein binding p.Y405C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893) CTTCGTACAATAATCAAATCC 0.418000 18 148 0 0 1 0 0 AKAP7 9465 broad.mit.edu 37 6 131490307 131490307 + Silent SNP A A G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr6:131490307A>G ENST00000431975.2 + 5 581 c.483A>G c.(481-483)ggA>ggG p.G161G AKAP7_ENST00000368123.4_Silent_p.G139G|AKAP7_ENST00000541650.1_Silent_p.G160G|AKAP7_ENST00000366358.2_Intron NM_016377.3 NP_057461.2 O43687 AKA7A_HUMAN A kinase (PRKA) anchor protein 7 0 intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding p.G139G(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1) 13 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) TCCTCCAGGGAAAACATTTGA 0.353000 61 211 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 2 10 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79942411 79942411 + Missense_Mutation SNP C C A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chrX:79942411C>A ENST00000373275.4 - 35 4172 c.3956G>T c.(3955-3957)cGt>cTt p.R1319L BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1319 Bromo 2. breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 CGAGTCTTCACGTTCATAAAT 0.383000 3 105 1 1 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8485768 8485768 + Missense_Mutation SNP C C G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr9:8485768C>G ENST00000381196.4 - 25 3592 c.3049G>C c.(3049-3051)Gat>Cat p.D1017H PTPRD_ENST00000540109.1_Missense_Mutation_p.D1017H|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.D995H|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1017H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1004H NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1017 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.D1017H(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTACCTTGATCCACAGGCAGT 0.448000 TSP Lung(15;0.13) 17 44 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117645561 117645561 + Nonsense_Mutation SNP C C A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr6:117645561C>A ENST00000368508.3 - 34 5773 c.5575G>T c.(5575-5577)Gaa>Taa p.E1859* GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1853* NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1859 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AAACTTGTTTCTGGTATCCAA 0.294000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 4 108 1 1 1 1 0 DNAH8 1769 broad.mit.edu 37 6 38816530 38816530 + Missense_Mutation SNP C C T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr6:38816530C>T ENST00000359357.3 + 35 4755 c.4501C>T c.(4501-4503)Ctt>Ttt p.L1501F DNAH8_ENST00000449981.2_Missense_Mutation_p.L1718F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1501F dynein, axonemal, heavy chain 8 p.L1501F(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTGGGTTTATCTTGAAGCCGT 0.358000 16 177 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917480 65917480 + Silent SNP A A G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr15:65917480A>G ENST00000261892.6 + 2 1349 c.1062A>G c.(1060-1062)gtA>gtG p.V354V SLC24A1_ENST00000546330.1_Silent_p.V354V|SLC24A1_ENST00000537259.1_Silent_p.V354V|SLC24A1_ENST00000544319.2_Silent_p.V354V|SLC24A1_ENST00000399033.4_Silent_p.V354V|SLC24A1_ENST00000339868.6_Silent_p.V354V NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 354 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity p.V354V(1) breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GGACCAGTGTATCAGCCATCA 0.552000 13 35 0 0 1 0 0 LTBR 4055 broad.mit.edu 37 12 6495568 6495568 + Missense_Mutation SNP A A G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr12:6495568A>G ENST00000228918.4 + 6 951 c.625A>G c.(625-627)Acc>Gcc p.T209A LTBR_ENST00000539925.1_Missense_Mutation_p.T190A|LTBR_ENST00000541102.1_Missense_Mutation_p.T102A|LTBR_ENST00000543190.1_Silent_p.Q69Q NM_002342.1 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) 209 apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity p.T209A(2) breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 GTCCGACACAACCTGCAAAAA 0.577000 11 29 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732100 152732100 + Silent SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr1:152732100G>A ENST00000368773.1 + 2 94 c.36G>A c.(34-36)ccG>ccA p.P12P KPRP_ENST00000606109.1_Silent_p.P12P NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 12 Gln-rich. cytoplasm p.P12P(2) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGCCTGCCGCTCCAACAGT 0.582000 28 92 0 0 1 0 0 MFN1 55669 broad.mit.edu 37 3 179069810 179069810 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr3:179069810G>A ENST00000471841.1 + 3 361 c.235G>A c.(235-237)Gca>Aca p.A79T MFN1_ENST00000280653.7_Missense_Mutation_p.A79T|MFN1_ENST00000263969.5_Missense_Mutation_p.A79T NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 79 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CATGAAGGTGGCATTTTTTGG 0.378000 6 466 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113321125 113321125 + Missense_Mutation SNP C C T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr12:113321125C>T ENST00000389385.4 + 16 1851 c.1354C>T c.(1354-1356)Cgg>Tgg p.R452W RPH3A_ENST00000543106.2_Missense_Mutation_p.R452W|RPH3A_ENST00000447659.2_Missense_Mutation_p.R403W|RPH3A_ENST00000415485.3_Missense_Mutation_p.R452W|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.R452W|RPH3A_ENST00000551052.1_Missense_Mutation_p.R448W|RPH3A_ENST00000548866.1_Missense_Mutation_p.R403W NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 452 C2 1. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding p.R448W(1)|p.R452W(1) breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) AAAAACTCTGCGGAATACCCG 0.562000 14 67 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9771302 9771302 + Missense_Mutation SNP C C T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr3:9771302C>T ENST00000383832.3 + 21 1778 c.1588C>T c.(1588-1590)Cgc>Tgc p.R530C NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 530 p.R530C(2) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) GTCCTATATGCGCACCAGAGA 0.627000 14 78 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1081839 1081839 + Missense_Mutation SNP C C A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr5:1081839C>A ENST00000264930.5 - 9 1193 c.1150G>T c.(1150-1152)Gcg>Tcg p.A384S NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 384 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CCCGCGTGCGCGTACGTACTC 0.667000 3 99 1 1 1 1 0 FKBP5 2289 broad.mit.edu 37 6 35588018 35588018 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr6:35588018G>A ENST00000542713.1 - 4 441 c.284C>T c.(283-285)gCt>gTt p.A95V FKBP5_ENST00000357266.4_Missense_Mutation_p.A95V|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.A95V|FKBP5_ENST00000536438.1_Missense_Mutation_p.A95V NM_001145777.1 NP_001139249.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 95 PPIase FKBP-type 1. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity p.A95V(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 CTTCATGGTAGCCACCCCAAT 0.423000 45 137 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160141224 160141224 + Missense_Mutation SNP G G C TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr3:160141224G>C ENST00000357388.3 + 14 2482 c.2031G>C c.(2029-2031)tgG>tgC p.W677C SMC4_ENST00000344722.5_Missense_Mutation_p.W677C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.W677C|SMC4_ENST00000469762.1_Missense_Mutation_p.W652C|SMC4_ENST00000360111.2_Missense_Mutation_p.W677C NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 677 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGGCTGTATGGGCGAAAAAGA 0.279000 4 253 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52863634 52863634 + Missense_Mutation SNP C C T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr12:52863634C>T ENST00000252250.6 - 7 1291 c.1244G>A c.(1243-1245)cGt>cAt p.R415H NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 415 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity p.R415H(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) CATCTCCCCACGCTGCTCAGC 0.602000 19 75 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39645632 39645632 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr8:39645632G>A ENST00000265708.4 - 9 884 c.781C>T c.(781-783)Cgt>Tgt p.R261C ADAM2_ENST00000521880.1_Missense_Mutation_p.R261C|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.R242C NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 261 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TCATGAGGACGTAAAACAAGA 0.303000 4 159 0 0 1 0 0 ARHGDIB 397 broad.mit.edu 37 12 15102816 15102816 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr12:15102816G>A ENST00000228945.4 - 3 329 c.185C>T c.(184-186)cCg>cTg p.P62L ARHGDIB_ENST00000541644.1_Missense_Mutation_p.P62L|ARHGDIB_ENST00000541546.1_Missense_Mutation_p.P62L NM_001175.4 NP_001166.3 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 62 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity p.P62L(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 15 GGGGGCTTTCGGATCTGCAGG 0.483000 28 109 0 0 1 0 0 AOC4P 0 broad.mit.edu 37 17 41020769 41020769 + RNA SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr17:41020769G>A ENST00000585538.1 + 0 1608 NR_002773.1 CCACACCACCGGCTACATCAG 0.527000 17 27 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65239589 65239589 + Silent SNP G G T rs142168941 TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr14:65239589G>T ENST00000389722.3 - 25 5315 c.5262C>A c.(5260-5262)atC>atA p.I1754I SPTB_ENST00000389720.3_Silent_p.I1754I|SPTB_ENST00000389721.5_Silent_p.I1754I|SPTB_ENST00000542895.1_Silent_p.I1754I|SPTB_ENST00000556626.1_Silent_p.I1754I NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1754 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton p.I1754I(1) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGAGTCGCTCGATGAAGGCAT 0.637000 18 52 1.74485e-21 2.14279e-21 1 1 0 DCHS2 54798 broad.mit.edu 37 4 155254246 155254246 + Silent SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr4:155254246G>A ENST00000357232.3 - 9 1616 c.1617C>T c.(1615-1617)aaC>aaT p.N539N DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.N1038N NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 539 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.N1038N(1)|p.N539N(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCAGGCTGCCGTTGAGGAACA 0.672000 4 49 0 0 1 0 0 A1BG 1 broad.mit.edu 37 19 58862934 58862934 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr19:58862934G>A ENST00000263100.3 - 5 794 c.733C>T c.(733-735)Cgc>Tgc p.R245C A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 245 Ig-like V-type 3. extracellular region p.R245C(1) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) TTCTCCCCGCGCCGTAGCTGG 0.627000 10 47 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23191911 23191911 + RNA SNP C C T rs147199465 by1000genomes TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr15:23191911C>T ENST00000400153.2 - 0 1785 NR_003521.1 TGATTTTCTTCGCACTGATCC 0.408000 3 72 0 0 1 0 0 PCDHGC5 0 broad.mit.edu 37 5 140870417 140870417 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr5:140870417G>A ENST00000252087.1 + 1 1610 c.1610G>A c.(1609-1611)cGa>cAa p.R537Q PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 537 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R537P(2)|p.R537Q(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGGGGTTCGAGACTCCGGC 0.537000 37 109 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50378349 50378349 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chrX:50378349G>A ENST00000376020.2 - 4 749 c.724C>T c.(724-726)Cgc>Tgc p.R242C SHROOM4_ENST00000289292.7_Missense_Mutation_p.R242C|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R126C NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 242 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding p.R242C(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) CCATTGGTGCGCCGACTACCT 0.637000 3 9 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024179 55024179 + Missense_Mutation SNP A A T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr18:55024179A>T ENST00000324000.3 + 3 2372 c.338A>T c.(337-339)aAt>aTt p.N113I NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 113 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.N113I(1) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GTAATAAAAAATTTTTCTTTG 0.318000 35 146 0 0 1 0 0 DDX28 55794 broad.mit.edu 37 16 68056489 68056489 + Missense_Mutation SNP C C A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr16:68056489C>A ENST00000332395.5 - 1 1281 c.617G>T c.(616-618)gGc>gTc p.G206V NM_018380.3 NP_060850.2 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 206 Helicase ATP-binding. mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding p.G206V(2) central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) AAGGACCAGGCCTCGGGGCGC 0.662000 6 69 0.00116845 0.00134084 1 1 0 CLEC1A 51267 broad.mit.edu 37 12 10234003 10234003 + Missense_Mutation SNP T T A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr12:10234003T>A ENST00000315330.4 - 3 286 c.224A>T c.(223-225)tAc>tTc p.Y75F CLEC1A_ENST00000420265.2_Intron|CLEC1A_ENST00000457018.2_Missense_Mutation_p.Y42F NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 75 cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity p.Y75F(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 GAGCTGGTAGTACTGAAAAAC 0.363000 30 103 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382213 41382213 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr5:41382213G>A ENST00000377801.3 - 2 601 c.527C>T c.(526-528)gCc>gTc p.A176V PLCXD3_ENST00000328457.3_Missense_Mutation_p.A176V Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 176 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AACTTCCTGGGCAAAAATCGC 0.448000 6 364 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175898106 175898106 + Missense_Mutation SNP A A G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr4:175898106A>G ENST00000359240.3 + 5 2100 c.1430A>G c.(1429-1431)gAt>gGt p.D477G ADAM29_ENST00000445694.1_Missense_Mutation_p.D477G|ADAM29_ENST00000514159.1_Missense_Mutation_p.D477G|ADAM29_ENST00000404450.4_Missense_Mutation_p.D477G NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 477 Disintegrin. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.D477G(2) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AAGTGCCCAGATGACTTTTAT 0.448000 40 159 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 22001955 22001955 + Silent SNP T T G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr19:22001955T>G ENST00000594012.1 - 5 568 c.54A>C c.(52-54)gcA>gcC p.A18A ZNF43_ENST00000354959.4_Silent_p.A24A|ZNF43_ENST00000595461.1_Silent_p.A18A|ZNF43_ENST00000598288.1_Silent_p.A18A|ZNF43_ENST00000598381.1_Silent_p.A18A NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A24A(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) AATTCTGCTGTGCAATGTCCA 0.398000 74 236 0 0 1 0 0 TMEM205 374882 broad.mit.edu 37 19 11453676 11453676 + Nonsense_Mutation SNP C C A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr19:11453676C>A ENST00000354882.5 - 3 811 c.385G>T c.(385-387)Gag>Tag p.E129* TMEM205_ENST00000586218.1_Nonsense_Mutation_p.E68*|TMEM205_ENST00000593256.2_Nonsense_Mutation_p.E129*|TMEM205_ENST00000588560.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586956.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000447337.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000587948.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586590.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000589555.1_Nonsense_Mutation_p.E129*|RAB3D_ENST00000589655.1_Intron Q6UW68 TM205_HUMAN transmembrane protein 205 129 integral to membrane endometrium(1)|lung(1) 2 CCTGGTACCTCCCCACCCAGG 0.647000 4 135 0.150653 0.164777 1 1 0 HECTD4 283450 broad.mit.edu 37 12 112717041 112717041 + Missense_Mutation SNP A A G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr12:112717041A>G ENST00000550722.1 - 9 1641 c.1246T>C c.(1246-1248)Tct>Cct p.S416P HECTD4_ENST00000430131.2_Missense_Mutation_p.S166P|HECTD4_ENST00000377560.5_Missense_Mutation_p.S416P NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 p.S416P(1)|p.S166P(1) CTTTTTAAAGATGACAAACCA 0.398000 25 92 0 0 1 0 0 IGHG1 0 broad.mit.edu 37 14 106208714 106208714 + RNA SNP A A T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr14:106208714A>T ENST00000390548.2 - 0 303 TTGTCACAAGATTTGGGCTCT 0.582000 6 245 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73719443 73719443 + Missense_Mutation SNP C C T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr14:73719443C>T ENST00000427855.1 + 11 1156 c.1054C>T c.(1054-1056)Cgg>Tgg p.R352W PAPLN_ENST00000381166.3_Missense_Mutation_p.R352W|PAPLN_ENST00000555445.1_Missense_Mutation_p.R352W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R352W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R325W O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 352 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding p.R352W(1)|p.R325W(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GCCAGCTGACCGGCGTTCCTG 0.642000 39 125 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42301582 42301582 + Silent SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr19:42301582G>A ENST00000357396.3 + 2 367 c.126G>A c.(124-126)ccG>ccA p.P42P CEACAM3_ENST00000344550.4_Silent_p.P42P|CEACAM3_ENST00000221999.4_Silent_p.P42P|CEACAM3_ENST00000595255.1_3'UTR NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 42 Ig-like V-type. integral to membrane p.P42P(1) endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 AATCCATGCCGCTCAGTGTCG 0.522000 62 174 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 168 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1133461 1133461 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr2:1133461G>A ENST00000308624.5 + 6 506 c.377G>A c.(376-378)gGc>gAc p.G126D SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 126 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.G126D(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CAGGTTAATGGCATACATGTA 0.269000 19 157 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106788 55106788 + Silent SNP G G A rs112681015 byFrequency TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr19:55106788G>A ENST00000453777.1 + 5 752 c.582G>A c.(580-582)tcG>tcA p.S194S LILRA1_ENST00000251372.3_Silent_p.S194S|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 194 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity p.S194S(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GCAGGTGGTCGTACAGGTGCT 0.572000 52 186 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49457141 49457141 + Missense_Mutation SNP G G T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr10:49457141G>T ENST00000374201.3 - 3 534 c.232C>A c.(232-234)Cat>Aat p.H78N FRMPD2_ENST00000305531.3_Missense_Mutation_p.H76N|FRMPD2_ENST00000407470.4_Missense_Mutation_p.H69N NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 78 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding p.H78N(1) NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GCCTCTATATGAGAAACACGG 0.532000 17 45 1.64113e-05 1.94711e-05 1 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 84 0 0 1 0 0 CSF2RA 0 broad.mit.edu 37 X 1407464 1407464 + Missense_Mutation SNP G G T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chrX:1407464G>T ENST00000381524.3 + 5 458 c.272G>T c.(271-273)gGa>gTa p.G91V CSF2RA_ENST00000432318.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000417535.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000355805.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G91V|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G91V P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 91 extracellular region|integral to plasma membrane cytokine receptor activity p.G91V(2) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CTGCATGAAGGAGTCACATTT 0.418000 146 521 3.67666e-70 4.59582e-70 1 1 0 ITGAL 0 broad.mit.edu 37 16 30495266 30495266 + Missense_Mutation SNP C C T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr16:30495266C>T ENST00000356798.6 + 8 1021 c.841C>T c.(841-843)Cgc>Tgc p.R281C ITGAL_ENST00000358164.5_Missense_Mutation_p.R198C|ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 281 VWFA. blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity p.R281S(1)|p.R281C(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) AGACATCATCCGCTACATCAT 0.587000 31 252 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106064139 106064139 + Missense_Mutation SNP G G T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chrX:106064139G>T ENST00000357242.5 + 3 448 c.274G>T c.(274-276)Gat>Tat p.D92Y TBC1D8B_ENST00000481617.2_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D92Y NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 92 intracellular calcium ion binding|Rab GTPase activator activity p.D92Y(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CAAGCATTGGGATTGGTTGGA 0.308000 48 55 8.86878e-18 1.07037e-17 1 1 0 DGCR14 8220 broad.mit.edu 37 22 19132152 19132152 + Translation_Start_Site SNP A A T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr22:19132152A>T ENST00000252137.6 - 1 45 c.2T>A c.(1-3)aTg>aAg p.M1K NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 1 nervous system development catalytic step 2 spliceosome p.M1K(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) CGGCGTCTCCATCGCTATCCC 0.682000 3 9 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166165901 166165901 + Silent SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr2:166165901G>A ENST00000375437.2 + 6 935 c.645G>A c.(643-645)gcG>gcA p.A215A SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000283256.6_Silent_p.A215A|SCN2A_ENST00000375427.2_Intron NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 215 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.A215A(2) 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) ATGTCTCAGCGTTGAGAACAT 0.438000 7 114 0 0 1 0 0 C12orf63 0 broad.mit.edu 37 12 97093817 97093817 + Frame_Shift_Del DEL A A - TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr12:97093817delA ENST00000524981.3 + 13 1773 c.1773delA c.(1771-1773)ggfs p.G591fs Q6ZTY8 CL063_HUMAN 565 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TTTTCTATGGAAAAAACATGC 0.343 56 247 --- --- --- --- TRIM37 4591 broad.mit.edu 37 17 57128666 57128666 + Frame_Shift_Del DEL A A - TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr17:57128666delA ENST00000376149.3 - 14 1666 c.857delT c.(856-858)tcfs p.F287fs TRIM37_ENST00000393065.2_Frame_Shift_Del_p.F375fs|TRIM37_ENST00000393066.3_Frame_Shift_Del_p.F409fs|TRIM37_ENST00000262294.7_Frame_Shift_Del_p.F409fs O94972 TRI37_HUMAN tripartite motif containing 37 409 MATH. perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TTTTTGAAAGAAAGTTGGTGA 0.338 Mulibrey Nanism 32 127 --- --- --- --- JUNB 3726 broad.mit.edu 37 19 12903424 12903425 + Frame_Shift_Ins INS - - G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr19:12903424_12903425insG ENST00000302754.4 + 1 1115_1116 c.839_840insG c.(838-840)cgcfs p.R280fs NM_002229.2 NP_002220.1 P17275 JUNB_HUMAN jun B proto-oncogene 280 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|kidney(1)|lung(3) 6 CGGAACCGGCTGGCGGCCACCA 0.688 3 4 --- --- --- ---