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 RANBP2 5903 broad.mit.edu 37 2 109381658 109381658 + Nonsense_Mutation SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr2:109381658C>T ENST00000283195.6 + 20 4789 c.4663C>T c.(4663-4665)Cga>Tga p.R1555* NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1555 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATGCTTAGTGCGAAATGAAGC 0.403000 39 52 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453155 140453155 + Missense_Mutation SNP C C A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr7:140453155C>A ENST00000288602.6 - 15 1840 c.1780G>T c.(1780-1782)Gat>Tat p.D594Y NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 594 Protein kinase. D -> G (in NHL). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.D594N(9)|p.D594H(2) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) AGACCAAAATCACCTATTTTT 0.378000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 11 19 0.0931896 0.0976272 1 1 0 KIAA1429 25962 broad.mit.edu 37 8 95508078 95508078 + Silent SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr8:95508078G>A ENST00000297591.5 - 19 4500 c.4425C>T c.(4423-4425)gaC>gaT p.D1475D KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1475 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CAACTACACTGTCCAACAAAG 0.408000 15 18 0 0 1 0 0 IDI1 3422 broad.mit.edu 37 10 1089293 1089293 + Silent SNP G G C TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr10:1089293G>C ENST00000381344.3 - 3 520 c.354C>G c.(352-354)acC>acG p.T118T IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA NM_004508.2 NP_004499.2 Q13907 IDI1_HUMAN isopentenyl-diphosphate delta isomerase 1 61 Nudix hydrolase. carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding large_intestine(3)|lung(2)|prostate(1) 6 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.221) Epithelial(11;0.0972) GCTTATTTTCGGTGTTGAATA 0.318000 17 19 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56020571 56020571 + Missense_Mutation SNP A A G TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr11:56020571A>G ENST00000303059.3 + 1 896 c.896A>G c.(895-897)gAc>gGc p.D299G NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TATGCTTCAGACCATGACATC 0.388000 25 28 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30749672 30749672 + Missense_Mutation SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr16:30749672C>T ENST00000262518.4 + 34 8696 c.8311C>T c.(8311-8313)Cgg>Tgg p.R2771W SRCAP_ENST00000395059.2_Missense_Mutation_p.R2709W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2613W NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2771 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCGGCAGCAGCGGGGAGCTGC 0.652000 5 59 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67273844 67273844 + Missense_Mutation SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr17:67273844C>T ENST00000392676.3 - 19 2596 c.2532G>A c.(2530-2532)atG>atA p.M844I ABCA5_ENST00000392677.2_Missense_Mutation_p.M844I|ABCA5_ENST00000588877.1_Missense_Mutation_p.M844I Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 844 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CTATTGTATACATCTGTTGTT 0.358000 8 13 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V 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) 5 7 0.00116845 0.00128529 1 1 0 GRM4 2914 broad.mit.edu 37 6 34003851 34003851 + Missense_Mutation SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr6:34003851C>T ENST00000538487.2 - 9 2479 c.2036G>A c.(2035-2037)cGc>cAc p.R679H GRM4_ENST00000609222.1_Missense_Mutation_p.R546H|GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000544773.2_Missense_Mutation_p.R510H|GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000374181.4_Missense_Mutation_p.R679H|GRM4_ENST00000455714.2_Missense_Mutation_p.R539H|GRM4_ENST00000545715.1_5'UTR NM_000841.2|NM_001256811.1 NP_000832.1|NP_001243740.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CTCGAAGATGCGGTAGATGCG 0.627000 44 75 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72892669 72892669 + Missense_Mutation SNP G G C TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr6:72892669G>C ENST00000264839.7 + 6 1495 c.1495G>C c.(1495-1497)Gac>Cac p.D499H RIMS1_ENST00000520567.1_Missense_Mutation_p.D499H|RIMS1_ENST00000518273.1_Missense_Mutation_p.D499H|RIMS1_ENST00000517960.1_Missense_Mutation_p.D499H|RIMS1_ENST00000491071.2_Missense_Mutation_p.D499H|RIMS1_ENST00000348717.5_Missense_Mutation_p.D499H|RIMS1_ENST00000522291.1_Missense_Mutation_p.D499H|RIMS1_ENST00000521978.1_Missense_Mutation_p.D499H Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 499 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GCTGCGGAACGACTCTTTGAG 0.672000 7 3 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113829165 113829165 + Missense_Mutation SNP C C A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr5:113829165C>A ENST00000512097.3 + 8 2466 c.1448C>A c.(1447-1449)gCa>gAa p.A483E KCNN2_ENST00000507750.1_3'UTR|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000503706.1_Missense_Mutation_p.A135E|KCNN2_ENST00000264773.3_Missense_Mutation_p.A483E Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 483 Calmodulin-binding (By similarity). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) GTGGACTTGGCAAAGGTAAGC 0.413000 7 17 0.000157383 0.000176056 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 16 0 0 1 0 0 CHSY1 22856 broad.mit.edu 37 15 101775492 101775492 + Missense_Mutation SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr15:101775492G>A ENST00000254190.3 - 2 1086 c.611C>T c.(610-612)aCg>aTg p.T204M NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 204 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CATTTCTTCCGTGGTGCCCAG 0.582000 10 24 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100523357 100523357 + Missense_Mutation SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr8:100523357C>T ENST00000358544.2 + 29 4436 c.4325C>T c.(4324-4326)aCt>aTt p.T1442I VPS13B_ENST00000357162.2_Missense_Mutation_p.T1417I|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1442 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTAGATGGCACTCATCAGCAG 0.333000 16 28 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13751270 13751270 + Missense_Mutation SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr5:13751270G>A ENST00000265104.4 - 65 11232 c.11128C>T c.(11128-11130)Cgt>Tgt p.R3710C NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3710 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATGGAGGTACGGGCACTTATC 0.478000 Kartagener syndrome 16 29 0 0 1 0 0 KCNIP4 80333 broad.mit.edu 37 4 20884250 20884250 + Silent SNP C C A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr4:20884250C>A ENST00000382152.2 - 2 311 c.144G>T c.(142-144)acG>acT p.T48T KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382150.4_Intron NM_025221.5 NP_079497.2 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 48 plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) CAGGAGACGACGTTTTGGCAG 0.448000 8 18 0.00448238 0.00484979 1 1 0 ANKS1A 23294 broad.mit.edu 37 6 34949612 34949612 + Missense_Mutation SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr6:34949612G>A ENST00000360359.3 + 4 719 c.581G>A c.(580-582)cGa>cAa p.R194Q ANKS1A_ENST00000535627.1_Missense_Mutation_p.R194Q NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 194 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CTGTACGGGCGACTGGAGGTG 0.562000 33 59 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24993374 24993374 + Missense_Mutation SNP C C A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr1:24993374C>A ENST00000323848.9 + 13 2012 c.1697C>A c.(1696-1698)cCt>cAt p.P566H SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000479034.1_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 566 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding p.P566H(2) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCCGCCCCTCCTCCTCGACGG 0.542000 4 36 0.248553 0.252376 1 1 0 UBR4 23352 broad.mit.edu 37 1 19513092 19513092 + Silent SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr1:19513092G>A ENST00000375267.2 - 14 1695 c.1692C>T c.(1690-1692)acC>acT p.T564T UBR4_ENST00000375217.2_Silent_p.T564T|UBR4_ENST00000375226.2_Silent_p.T564T|UBR4_ENST00000375254.3_Silent_p.T564T Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 564 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) TATTGGAGTCGGTGGAGGCGC 0.517000 14 21 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 241033372 241033372 + Missense_Mutation SNP G G C TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr1:241033372G>C ENST00000366565.1 - 7 814 c.433C>G c.(433-435)Ctc>Gtc p.L145V RGS7_ENST00000366563.1_Missense_Mutation_p.L145V|RGS7_ENST00000446183.2_Missense_Mutation_p.L61V|RGS7_ENST00000366564.1_Missense_Mutation_p.L145V|RGS7_ENST00000331110.7_Missense_Mutation_p.L119V|RGS7_ENST00000407727.1_Missense_Mutation_p.L145V|RGS7_ENST00000348120.2_Missense_Mutation_p.L92V|RGS7_ENST00000366562.4_Missense_Mutation_p.L145V|RGS7_ENST00000401882.1_Missense_Mutation_p.L92V NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 145 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TAGTCTGCGAGCTCCAGTCGT 0.448000 20 30 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a 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 3 29 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89521721 89521721 + Missense_Mutation SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr3:89521721C>T ENST00000336596.2 + 16 3023 c.2798C>T c.(2797-2799)aCg>aTg p.T933M EPHA3_ENST00000494014.1_Intron NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 933 SAM. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GAAATCTTCACGGGTGTGGAG 0.408000 TSP Lung(6;0.00050) 32 42 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97427205 97427205 + Missense_Mutation SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr2:97427205G>A ENST00000377075.2 + 1 567 c.469G>A c.(469-471)Gac>Aac p.D157N NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 157 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 GGCCCAGCCCGACGGGCCCTG 0.627000 118 158 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 80328211 80328211 + Silent SNP C C A rs150091542 TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr14:80328211C>A ENST00000281127.7 + 6 2082 c.1203C>A c.(1201-1203)tcC>tcA p.S401S NRXN3_ENST00000554719.1_Silent_p.S1030S|NRXN3_ENST00000428277.2_Silent_p.S428S|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Silent_p.S1030S|NRXN3_ENST00000557594.1_Silent_p.S606S NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 606 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TCAGCAACTCCGCCCAGAGCA 0.527000 5 23 0.014758 0.0157101 1 1 0 COL13A1 1305 broad.mit.edu 37 10 71690164 71690164 + Silent SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr10:71690164C>T ENST00000356340.3 + 28 2042 c.1506C>T c.(1504-1506)cgC>cgT p.R502R COL13A1_ENST00000398971.3_Silent_p.R502R|COL13A1_ENST00000520133.1_Silent_p.R451R|COL13A1_ENST00000398972.3_Silent_p.R502R|COL13A1_ENST00000398974.3_Silent_p.R490R|COL13A1_ENST00000520267.1_Silent_p.R445R|COL13A1_ENST00000354547.3_Silent_p.R480R|COL13A1_ENST00000517713.1_Silent_p.R480R|COL13A1_ENST00000357811.3_Silent_p.R480R|COL13A1_ENST00000398964.3_Silent_p.R473R|COL13A1_ENST00000398969.3_Silent_p.R445R|COL13A1_ENST00000522165.1_Silent_p.R483R|COL13A1_ENST00000398978.3_Silent_p.R502R|COL13A1_ENST00000398968.3_Silent_p.R483R|COL13A1_ENST00000398966.3_Silent_p.R480R|COL13A1_ENST00000398973.3_Silent_p.R502R Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 502 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding p.R502R(1)|p.R485R(1) endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) AGGGACCTCGCGGTAAACCAG 0.542000 13 11 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79358832 79358832 + Missense_Mutation SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr1:79358832G>A ENST00000370742.3 - 13 1855 c.1792C>T c.(1792-1794)Cgt>Tgt p.R598C NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 598 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.R598C(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GCAGTGTGACGAAAAACTTTG 0.299000 6 18 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 57994400 57994400 + Missense_Mutation SNP A A G TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr3:57994400A>G ENST00000357272.4 + 1 274 c.109A>G c.(109-111)Atc>Gtc p.I37V FLNB_ENST00000429972.2_Missense_Mutation_p.I37V|FLNB_ENST00000490882.1_Missense_Mutation_p.I37V|FLNB_ENST00000295956.4_Missense_Mutation_p.I37V|FLNB_ENST00000348383.5_Missense_Mutation_p.I37V|FLNB_ENST00000358537.3_Missense_Mutation_p.I37V O75369 FLNB_HUMAN filamin B, beta 37 Actin-binding.|CH 1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GAACAAACGCATCGGCAACCT 0.602000 11 27 0 0 1 0 0 TCIRG1 10312 broad.mit.edu 37 11 67811768 67811768 + Missense_Mutation SNP T T A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr11:67811768T>A ENST00000265686.3 + 9 1085 c.977T>A c.(976-978)gTg>gAg p.V326E TCIRG1_ENST00000532635.1_Missense_Mutation_p.V110E NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 326 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 TGGTGCTCTGTGCGAGACCTG 0.697000 4 5 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186057798 186057798 + Missense_Mutation SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr1:186057798G>A ENST00000271588.4 + 63 9867 c.9638G>A c.(9637-9639)cGg>cAg p.R3213Q HMCN1_ENST00000367492.2_Missense_Mutation_p.R3213Q NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3213 Ig-like C2-type 30. 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 CAGATTGCCCGGTCTCAGCAT 0.363000 5 10 0 0 1 0 0 LIPF 8513 broad.mit.edu 37 10 90429681 90429681 + Silent SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr10:90429681C>T ENST00000394375.3 + 6 653 c.540C>T c.(538-540)ggC>ggT p.G180G LIPF_ENST00000238983.4_Silent_p.G170G|LIPF_ENST00000355843.2_Silent_p.G147G|LIPF_ENST00000608620.1_Silent_p.G137G NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 170 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) ACTATGTTGGCCATTCCCAGG 0.428000 61 95 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161753 90161753 + RNA SNP T T C rs6500470 by1000genomes TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr16:90161753T>C ENST00000567960.1 + 0 489 TUBB8P7_ENST00000564451.1_RNA CAGACAGGATTATAAACACAT 0.562000 5 47 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99459993 99459993 + Missense_Mutation SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr15:99459993G>A ENST00000268035.6 + 10 2700 c.2089G>A c.(2089-2091)Ggg>Agg p.G697R IGF1R_ENST00000558762.1_Missense_Mutation_p.G697R NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 697 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TGGGGAGAAAGGGCCTTGCTG 0.547000 18 20 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77825389 77825389 + Missense_Mutation SNP T T G TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr13:77825389T>G ENST00000407578.2 - 15 2544 c.2278A>C c.(2278-2280)Aaa>Caa p.K760Q MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.K722Q|MYCBP2_ENST00000357337.6_Missense_Mutation_p.K722Q NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 722 Cys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGCTTCCATTTGTGCATGCCT 0.493000 16 22 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64124622 64124622 + Missense_Mutation SNP G G A rs61886888 by1000genomes TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr11:64124622G>A ENST00000359902.2 + 14 1951 c.1801G>A c.(1801-1803)Gga>Aga p.G601R CCDC88B_ENST00000301897.4_3'UTR|CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000463837.1_3'UTR A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1424 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGTGTCAGCGGAGGCCCCAG 0.667000 3 34 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92307793 92307793 + Silent SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr8:92307793C>T ENST00000276609.3 + 4 578 c.339C>T c.(337-339)aaC>aaT p.N113N SLC26A7_ENST00000523719.1_Silent_p.N113N|SLC26A7_ENST00000309536.2_Silent_p.N113N NM_001282356.1|NM_052832.2 NP_001269285.1|NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 113 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TATCAGCCAACGCCGTGGAAC 0.443000 19 51 0 0 1 0 0 RAB10 10890 broad.mit.edu 37 2 26257488 26257488 + Missense_Mutation SNP A A C TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr2:26257488A>C ENST00000264710.4 + 1 510 c.11A>C c.(10-12)aAg>aCg p.K4T NM_016131.4 NP_057215.3 P61026 RAB10_HUMAN RAB10, member RAS oncogene family 4 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGGCGAAGAAGACGTACGAC 0.602000 12 26 0 0 1 0 0 TAF15 8148 broad.mit.edu 37 17 34171324 34171324 + Missense_Mutation SNP A A G TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr17:34171324A>G ENST00000588240.1 + 14 1244 c.1129A>G c.(1129-1131)Aat>Gat p.N377D TAF15_ENST00000592237.1_Missense_Mutation_p.N286D|TAF15_ENST00000311979.3_Missense_Mutation_p.N374D NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 377 Arg/Gly-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GAATTCCTGCAATCAGTGCAA 0.443000 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 25 43 0 0 1 0 0 LETMD1 25875 broad.mit.edu 37 12 51450186 51450186 + Silent SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr12:51450186G>A ENST00000418425.2 + 7 874 c.855G>A c.(853-855)ttG>ttA p.L285L LETMD1_ENST00000547008.1_Silent_p.L148L|LETMD1_ENST00000262055.4_Silent_p.L272L|LETMD1_ENST00000550929.1_Silent_p.L216L|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000552739.1_Silent_p.L155L NM_001243689.1 NP_001230618.1 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 272 LETM1. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3) 16 CTCCCTTGTTGAGACATCGTT 0.493000 36 50 0 0 1 0 0 SLC25A17 10478 broad.mit.edu 37 22 41215231 41215231 + Missense_Mutation SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr22:41215231C>T ENST00000435456.2 - 1 155 c.22G>A c.(22-24)Gaa>Aaa p.E8K SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000544408.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.E8K NM_006358.2 NP_006349.1 O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 8 fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 ACCAGGCTTTCGTAGGACAGC 0.637000 OREG0026586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 36 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24993386 24993386 + Missense_Mutation SNP G G T rs78787676 byFrequency TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr1:24993386G>T ENST00000323848.9 + 13 2024 c.1709G>T c.(1708-1710)cGc>cTc p.R570L SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000479034.1_3'UTR NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 570 Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding p.R570L(2) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) CCTCGACGGCGCAGGACTCCC 0.557000 4 31 5.9392e-07 6.7584e-07 1 1 0 LOC401127 401127 broad.mit.edu 37 4 39482195 39482195 + RNA SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr4:39482195G>A ENST00000513652.1 + 0 321 GCCTACGCCCGTGAAGCCAAA 0.577000 28 47 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22291881 22291881 + Missense_Mutation SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr11:22291881G>A ENST00000324559.8 + 18 2239 c.1922G>A c.(1921-1923)cGc>cAc p.R641H NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 641 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGGTGGAGACGCCGAAAAGCT 0.418000 21 17 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27057961 27057961 + Nonsense_Mutation SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr1:27057961C>T ENST00000324856.7 + 3 2040 c.1669C>T c.(1669-1671)Cag>Tag p.Q557* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q174*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q557* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 557 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q557*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCCACAGGCTCAGTCTCCTTA 0.647000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 95 180 0 0 1 0 0 CNOT2 4848 broad.mit.edu 37 12 70732480 70732480 + Silent SNP G G T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr12:70732480G>T ENST00000551483.1 + 2 4164 c.9G>T c.(7-9)acG>acT p.T3T CNOT2_ENST00000229195.3_Silent_p.T352T|CNOT2_ENST00000418359.3_Silent_p.T352T Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 352 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) GGATGGTGACGGACCAATTTG 0.383000 3 35 0.115264 0.118866 1 1 0 CNTNAP1 8506 broad.mit.edu 37 17 40838159 40838159 + Splice_Site SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr17:40838159G>A ENST00000264638.4 + 6 1117 c.900G>A c.(898-900)gaG>gaA p.E300E CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 300 Laminin G-like 1. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) TGGACACTGAGGTGAGAGACT 0.527000 42 68 0 0 1 0 0 PTPN1 5770 broad.mit.edu 37 20 49196247 49196247 + Nonsense_Mutation SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr20:49196247G>A ENST00000371621.3 + 8 1046 c.872G>A c.(871-873)tGg>tAg p.W291* PTPN1_ENST00000541713.1_Nonsense_Mutation_p.W218* NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 291 blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) AAGGATCAGTGGAAGGAGCTT 0.567000 OREG0026029 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 57 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204944416 204944416 + Missense_Mutation SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr1:204944416C>T ENST00000367172.4 + 15 1904 c.1576C>T c.(1576-1578)Cgg>Tgg p.R526W NFASC_ENST00000367169.4_Missense_Mutation_p.R526W|NFASC_ENST00000403080.1_Missense_Mutation_p.R526W|NFASC_ENST00000367171.4_Missense_Mutation_p.R526W|NFASC_ENST00000338515.6_Missense_Mutation_p.R526W|NFASC_ENST00000338586.6_Missense_Mutation_p.R526W|NFASC_ENST00000404076.1_Missense_Mutation_p.R520W|NFASC_ENST00000513543.1_Missense_Mutation_p.R537W|NFASC_ENST00000539706.1_Missense_Mutation_p.R537W|NFASC_ENST00000401399.1_Missense_Mutation_p.R526W|NFASC_ENST00000404907.1_Missense_Mutation_p.R537W|NFASC_ENST00000367170.4_Missense_Mutation_p.R526W|NFASC_ENST00000360049.4_Missense_Mutation_p.R537W|NFASC_ENST00000339876.6_Missense_Mutation_p.R526W O94856 NFASC_HUMAN neurofascin 526 Ig-like C2-type 6. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAGGATCTACCGGATGCCCGA 0.632000 OREG0014142 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 54 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145328417 145328417 + Missense_Mutation SNP A A G TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr1:145328417A>G ENST00000342960.5 + 33 4300 c.4265A>G c.(4264-4266)gAc>gGc p.D1422G NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1422 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAAGACCAAGACCCACCATGC 0.458000 3 30 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78688943 78688943 + Silent SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr3:78688943C>T ENST00000436010.2 - 20 3868 c.2871G>A c.(2869-2871)acG>acA p.T957T ROBO1_ENST00000467549.1_Silent_p.T951T|ROBO1_ENST00000464233.1_Silent_p.T996T|ROBO1_ENST00000495273.1_Silent_p.T951T Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 996 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CATTGCCTGCCGTGCAGCAGC 0.527000 11 24 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37831699 37831699 + Translation_Start_Site SNP T T A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr4:37831699T>A ENST00000537241.1 + 0 207 PGM2_ENST00000381967.4_Silent_p.A65A|PGM2_ENST00000544359.1_De_novo_Start_OutOfFrame Q96G03 PGM2_HUMAN phosphoglucomutase 2 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 TCCGAGCTGCTATGGGACCTG 0.438000 12 25 0 0 1 0 0 SBNO2 22904 broad.mit.edu 37 19 1112417 1112417 + Silent SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr19:1112417G>A ENST00000361757.3 - 21 2736 c.2499C>T c.(2497-2499)cgC>cgT p.R833R SBNO2_ENST00000438103.2_Silent_p.R776R|SBNO2_ENST00000587024.1_Silent_p.R823R NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 833 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) GCTGGATGGCGCGGTCGGCGC 0.746000 3 4 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31497127 31497127 + Missense_Mutation SNP G G C TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chrX:31497127G>C ENST00000357033.4 - 58 8847 c.8641C>G c.(8641-8643)Cta>Gta p.L2881V DMD_ENST00000474231.1_Missense_Mutation_p.L421V|DMD_ENST00000378677.2_Missense_Mutation_p.L2877V|DMD_ENST00000378707.3_Missense_Mutation_p.L421V|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000343523.2_Missense_Mutation_p.L421V|DMD_ENST00000541735.1_Missense_Mutation_p.L421V|DMD_ENST00000359836.1_Missense_Mutation_p.L421V NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2881 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGTTTCTCTAGTCCTTCCAAA 0.423000 8 3 0 0 1 0 0 TMEM204 79652 broad.mit.edu 37 16 1604966 1604966 + Missense_Mutation SNP G G A TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr16:1604966G>A ENST00000566264.1 + 3 1323 c.620G>A c.(619-621)cGc>cAc p.R207H TMEM204_ENST00000253934.5_Missense_Mutation_p.R207H|IFT140_ENST00000426508.2_Intron|IFT140_ENST00000439987.2_Intron NM_024600.5 NP_078876.2 Q9BSN7 TM204_HUMAN transmembrane protein 204 207 response to stress adherens junction|integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Hepatocellular(780;0.219) GTCATCAGCCGCTCCCTGACA 0.622000 12 23 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126781360 126781360 + Silent SNP C C T TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr5:126781360C>T ENST00000274473.6 + 21 2970 c.2703C>T c.(2701-2703)gtC>gtT p.V901V MEGF10_ENST00000503335.2_Silent_p.V901V|MEGF10_ENST00000510828.1_3'UTR NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 901 cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CTATGAGGGTCGTCAATGCAG 0.418000 23 36 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27099846 27099847 + Frame_Shift_Del DEL GT GT - TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr1:27099846_27099847delGT ENST00000324856.7 + 15 4096_4097 c.3725_3726delGT c.(3724-3726)agtfs p.S1242fs ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S859fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1242fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1242 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCTCCAGGGAGTGATCCCTTCA 0.589 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 37 34 --- --- --- --- ZFP36L2 678 broad.mit.edu 37 2 43451740 43451742 + In_Frame_Del DEL CTG CTG - TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr2:43451740_43451742delCTG ENST00000282388.3 - 2 1494_1496 c.1201_1203delCAG c.(1201-1203)cagdel p.Q401del THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 401 Poly-Gln. cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) gcgccaggccctgctgctgctgc 0.764 2 4 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 101076229 101076229 + Frame_Shift_Del DEL T T - TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr8:101076229delT ENST00000360863.6 - 8 961 c.767delA c.(766-768)aagfs p.K256fs RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 256 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AGATGGGTCCTTTTTTGTCCT 0.328 8 1525 --- --- --- --- ATM 472 broad.mit.edu 37 11 108196912 108196923 + In_Frame_Del DEL TCAAGCAAATGA TCAAGCAAATGA - TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr11:108196912_108196923delTCAAGCAAATGA ENST00000278616.4 + 47 7320_7331 c.6935_6946delTCAAGCAAATGA c.(6934-6948)ctcaagcaaatgatc>ctc p.KQMI2313del C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_In_Frame_Del_p.KQMI2313del NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2313 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTGAGTATTCTCAAGCAAATGATCAAGAAGTT 0.382 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 7 40 --- --- --- --- CHEK1 1111 broad.mit.edu 37 11 125505378 125505378 + Frame_Shift_Del DEL A A - rs35817404 TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr11:125505378delA ENST00000534070.1 + 7 923 c.668delA c.(667-669)gaafs p.E223fs CHEK1_ENST00000524737.1_Frame_Shift_Del_p.E223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Frame_Shift_Del_p.E223fs|CHEK1_ENST00000427383.2_Frame_Shift_Del_p.E239fs|CHEK1_ENST00000278916.3_Frame_Shift_Del_p.E223fs|CHEK1_ENST00000428830.2_Frame_Shift_Del_p.E223fs|CHEK1_ENST00000544373.1_Frame_Shift_Del_p.E223fs NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 223 Protein kinase. E -> V (in dbSNP:rs35817404). cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) GACTGGAAAGAAAAAAAAACA 0.363 Other conserved DNA damage response genes 7 97 --- --- --- --- NRIP2 83714 broad.mit.edu 37 12 2944036 2944037 + Frame_Shift_Ins INS - - GG rs34286265 TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr12:2944036_2944037insGG ENST00000337508.4 - 1 153_154 c.113_114insCC c.(112-114)ccafs p.P38fs NM_031474.2 NP_113662.1 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 38 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GGCTGCTCGGTGGGGGCGTCAC 0.644 24 58 --- --- --- --- IKZF3 22806 broad.mit.edu 37 17 37985652 37985653 + Frame_Shift_Ins INS - - AG TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr17:37985652_37985653insAG ENST00000346872.3 - 3 211_212 c.150_151insCT c.(148-153)gatgaafs p.E51fs IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000394189.2_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000439016.2_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000377945.3_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000377944.3_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000467757.1_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000351680.3_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000350532.3_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000377952.2_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000377958.2_Frame_Shift_Ins_p.E51fs|IKZF3_ENST00000346243.3_Frame_Shift_Ins_p.E51fs NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 51 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CCTATGTCTTCATCTTCATTGG 0.416 17 37 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-E7-A4XJ-01A-11D-A26M-08 TCGA-E7-A4XJ-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77f9d11d-234b-478e-b1a9-a0afb274ab55 e730bac2-947f-4067-a1d1-2836780b947a g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)attfs p.I102fs ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000422689.2_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 3 3 --- --- --- ---