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 CASP8 841 broad.mit.edu 37 2 202131238 202131238 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:202131238T>C ENST00000358485.4 + 2 402 c.206T>C c.(205-207)aTt>aCt p.I69T CASP8_ENST00000323492.7_Missense_Mutation_p.I10T|CASP8_ENST00000264274.9_Missense_Mutation_p.I10T|CASP8_ENST00000432109.2_Missense_Mutation_p.I10T|CASP8_ENST00000392259.2_Missense_Mutation_p.I10T|CASP8_ENST00000392266.3_Missense_Mutation_p.I10T|CASP8_ENST00000392258.3_Missense_Mutation_p.I10T|CASP8_ENST00000264275.5_Missense_Mutation_p.I10T NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 10 DED 1. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.I10T(2)|p.I69T(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CTTTATGATATTGGGGAACAA 0.408000 HNSCC(4;0.00038) 6 60 0 0 0.029380 0 0 CREBBP 1387 broad.mit.edu 37 16 3817750 3817750 + Nonsense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:3817750G>C ENST00000262367.5 - 16 4030 c.3221C>G c.(3220-3222)tCa>tGa p.S1074* CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S1036* NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1074 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.S1074*(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) AGGAGATGTTGACTGAGAGGC 0.428000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 11 138 0 0 0.093190 0 0 APOL1 8542 broad.mit.edu 37 22 36661781 36661781 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:36661781C>T ENST00000319136.4 + 7 1214 c.947C>T c.(946-948)tCa>tTa p.S316L APOL1_ENST00000347595.7_Missense_Mutation_p.S179L|APOL1_ENST00000397279.4_Missense_Mutation_p.S300L|APOL1_ENST00000397278.3_Missense_Mutation_p.S300L|APOL1_ENST00000426053.1_Missense_Mutation_p.S282L|APOL1_ENST00000422706.1_Missense_Mutation_p.S300L NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 300 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding p.S316L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 CCGCATGCCTCAGCCTCACGC 0.557000 7 60 0 0 0.038147 0 0 MAGI3 260425 broad.mit.edu 37 1 114201796 114201796 + Silent SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:114201796G>C ENST00000369615.1 + 16 2786 c.2724G>C c.(2722-2724)ggG>ggC p.G908G MAGI3_ENST00000369611.4_Silent_p.G908G|MAGI3_ENST00000307546.9_Silent_p.G908G|MAGI3_ENST00000369617.4_Silent_p.G933G NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 933 Interaction with LPAR2 and GRIN2B.|PDZ 5. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding p.G908G(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGTGAATGGGCAGTCCATTG 0.453000 11 93 0 0 0.069234 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227227863 227227863 + Silent SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:227227863C>G ENST00000366769.3 - 23 4354 c.3063G>C c.(3061-3063)gtG>gtC p.V1021V CDC42BPA_ENST00000334218.5_Silent_p.V1021V|CDC42BPA_ENST00000535525.1_Silent_p.V1001V|CDC42BPA_ENST00000366767.3_Silent_p.V940V|CDC42BPA_ENST00000366765.3_Silent_p.V1034V|CDC42BPA_ENST00000366766.2_Silent_p.V1056V|CDC42BPA_ENST00000366764.2_Silent_p.V993V NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1034 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.V940V(1)|p.V1056V(1)|p.V1021V(1) NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TTATTAAACCCACCATCAAGG 0.343000 8 58 0 0 0.047766 0 0 ZFHX3 463 broad.mit.edu 37 16 72992721 72992721 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:72992721C>T ENST00000268489.5 - 2 1996 c.1324G>A c.(1324-1326)Gag>Aag p.E442K ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 442 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.E442K(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TCCTGCTTCTCTCCTTCTGCC 0.612000 13 111 0 0 0.146539 0 0 EIF4G3 8672 broad.mit.edu 37 1 21221934 21221934 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:21221934T>C ENST00000602326.1 - 15 2493 c.1910A>G c.(1909-1911)gAc>gGc p.D637G EIF4G3_ENST00000544689.1_Missense_Mutation_p.D174G|EIF4G3_ENST00000537738.1_Missense_Mutation_p.D84G|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D637G|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D631G|EIF4G3_ENST00000264211.8_Missense_Mutation_p.D631G|EIF4G3_ENST00000374935.3_Missense_Mutation_p.D351G|EIF4G3_ENST00000536266.1_Missense_Mutation_p.D235G NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 631 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity p.D631G(1)|p.D637G(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GAACTGGAAGTCCAGCAGAAA 0.463000 7 72 0 0 0.047766 0 0 RYR2 6262 broad.mit.edu 37 1 237756804 237756804 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:237756804G>A ENST00000366574.2 + 33 4621 c.4304G>A c.(4303-4305)gGa>gAa p.G1435E RYR2_ENST00000360064.6_Missense_Mutation_p.G1433E|RYR2_ENST00000542537.1_Missense_Mutation_p.G1419E NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1435 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.G1433E(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATCTTTCCTGGACAAGAACCT 0.393000 6 49 0 0 0.029380 0 0 ABCC8 6833 broad.mit.edu 37 11 17474774 17474774 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:17474774G>A ENST00000302539.4 - 7 1193 c.1068C>T c.(1066-1068)taC>taT p.Y356Y ABCC8_ENST00000389817.3_Silent_p.Y356Y NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 356 ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity p.Y356Y(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CAGCTAAGACGTAGGCATTGG 0.458000 4 70 0 0 0.014758 0 0 SORCS3 22986 broad.mit.edu 37 10 106982877 106982877 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:106982877C>A ENST00000369701.3 + 20 2965 c.2738C>A c.(2737-2739)cCt>cAt p.P913H SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 913 PKD. integral to membrane neuropeptide receptor activity p.P913H(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCCTTAGGTCCTGTGGAGCAT 0.428000 10 83 7.48243e-07 8.42152e-07 0.058154 1 0 SCNN1A 6337 broad.mit.edu 37 12 6483849 6483849 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:6483849T>C ENST00000358945.3 - 1 541 c.101A>G c.(100-102)gAa>gGa p.E34G SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000228916.2_Missense_Mutation_p.E34G|SCNN1A_ENST00000396966.2_Missense_Mutation_p.E34G|SCNN1A_ENST00000543768.1_Missense_Mutation_p.E57G|SCNN1A_ENST00000360168.3_Missense_Mutation_p.E93G P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 34 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding p.E34G(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) CGCCGCAGGTTCGGGGCCCAG 0.642000 3 34 0 0 0.115264 0 0 ZNF263 10127 broad.mit.edu 37 16 3339743 3339743 + Nonsense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:3339743G>T ENST00000219069.5 + 6 2113 c.1237G>T c.(1237-1239)Gaa>Taa p.E413* ZNF263_ENST00000538765.1_Nonsense_Mutation_p.E61*|ZNF263_ENST00000574253.1_3'UTR NM_005741.4 NP_005732.2 O14978 ZN263_HUMAN zinc finger protein 263 413 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E413*(1) NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 GGACTGCACTGAAATCTTTGG 0.473000 9 91 3.09899e-07 3.5164e-07 0.047766 1 0 DOCK8 81704 broad.mit.edu 37 9 434792 434792 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr9:434792G>A ENST00000432829.2 + 39 5008 c.4692G>A c.(4690-4692)aaG>aaA p.K1564K DOCK8_ENST00000453981.1_Silent_p.K1632K|DOCK8_ENST00000469391.1_Silent_p.K1532K|DOCK8_ENST00000382329.1_Silent_p.K1099K NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1632 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.K1564K(1)|p.K1632K(1) breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GAATTGCCAAGAGTTACCAGG 0.478000 5 41 0 0 0.014758 0 0 ATRNL1 26033 broad.mit.edu 37 10 117704277 117704277 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:117704277G>A ENST00000355044.3 + 29 4253 c.4127G>A c.(4126-4128)gGa>gAa p.G1376E ATRNL1_ENST00000423111.2_Missense_Mutation_p.G427E|ATRNL1_ENST00000303745.7_Missense_Mutation_p.G169E NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1376 integral to membrane sugar binding p.G1376E(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ACACGTCAAGGAACTTGTGTC 0.413000 14 91 0 0 0.132662 0 0 SLC35E2 9906 broad.mit.edu 37 1 1669760 1669760 + Splice_Site SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:1669760C>A ENST00000355439.2 - 5 1346 c.586G>T c.(586-588)Gga>Tga p.G196* SLC35E2_ENST00000400924.1_Splice_Site_p.G196*|SLC35E2_ENST00000246421.4_Splice_Site_p.G196* NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 196 integral to membrane p.G196*(1) endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGGGCCTCACCTGTGTACTCC 0.647000 4 11 0.000602214 0.000638991 0.014758 1 0 SMYD1 150572 broad.mit.edu 37 2 88387407 88387407 + Missense_Mutation SNP T T G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:88387407T>G ENST00000419482.2 + 3 426 c.341T>G c.(340-342)gTg>gGg p.V114G SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Missense_Mutation_p.V114G|SMYD1_ENST00000438570.1_Intron NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.V114G(1) NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 ATGTGGCGGGTGGAGAGAGAA 0.612000 3 3 0 0 0.021553 0 0 FOXK2 3607 broad.mit.edu 37 17 80529635 80529635 + Silent SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:80529635G>C ENST00000335255.5 + 4 972 c.798G>C c.(796-798)ctG>ctC p.L266L NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 266 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.L266L(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) ACGCGCAGCTGATAGTTCAGG 0.398000 7 52 0 0 0.038147 0 0 TNNI2 7136 broad.mit.edu 37 11 1861878 1861878 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:1861878G>A ENST00000381906.1 + 5 247 c.178G>A c.(178-180)Gaa>Aaa p.E60K TNNI2_ENST00000381905.3_Missense_Mutation_p.E60K|TNNI2_ENST00000381911.1_Missense_Mutation_p.E60K|TNNI2_ENST00000252898.7_Missense_Mutation_p.E60K NM_001145829.1 NP_001139301.1 P48788 TNNI2_HUMAN troponin I type 2 (skeletal, fast) 60 muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding p.E60K(1) lung(8)|prostate(1)|urinary_tract(1) 10 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CTCCATGTCTGAAGTGCAGGT 0.667000 4 32 0 0 0.014758 0 0 HSP90B1 7184 broad.mit.edu 37 12 104336359 104336359 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:104336359G>T ENST00000299767.5 + 12 1611 c.1429G>T c.(1429-1431)Gat>Tat p.D477Y NM_003299.2 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 477 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding p.D477Y(1) central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) GAAGATTGCTGATGATAAATA 0.363000 4 59 0.00909568 0.00954188 0.150653 1 0 WDR96 80217 broad.mit.edu 37 10 105953694 105953694 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:105953694C>T ENST00000357060.3 - 11 1487 c.1372G>A c.(1372-1374)Gta>Ata p.V458I WDR96_ENST00000428666.1_Missense_Mutation_p.V459I|WDR96_ENST00000278064.2_Missense_Mutation_p.V389I|WDR96_ENST00000369720.1_Missense_Mutation_p.V389I NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 458 p.V458I(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TTATCATATACGCTGATGAAG 0.552000 11 58 0 0 0.069234 0 0 GLT1D1 144423 broad.mit.edu 37 12 129373237 129373237 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:129373237G>A ENST00000442111.2 + 3 359 c.271G>A c.(271-273)Gcc>Acc p.A91T GLT1D1_ENST00000537468.1_Missense_Mutation_p.A80T|GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Missense_Mutation_p.A91T Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 91 biosynthetic process extracellular region transferase activity, transferring glycosyl groups p.A91T(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) AAATGAAGATGCCAACCAGGC 0.438000 4 23 0 0 0.150653 0 0 TCF20 6942 broad.mit.edu 37 22 42609633 42609633 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:42609633G>A ENST00000359486.3 - 1 1815 c.1679C>T c.(1678-1680)cCg>cTg p.P560L TCF20_ENST00000335626.4_Missense_Mutation_p.P560L NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding p.P560L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 ACCTTGTGCCGGTGAGGAGCC 0.577000 18 82 0 0 0.160694 0 0 ZNF296 162979 broad.mit.edu 37 19 45575216 45575216 + Silent SNP C C A rs141004234 byFrequency TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:45575216C>A ENST00000303809.2 - 3 1285 c.1071G>T c.(1069-1071)acG>acT p.T357T NM_145288.1 NP_660331.1 Q8WUU4 ZN296_HUMAN zinc finger protein 296 357 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T357T(1) breast(1)|lung(3)|prostate(1)|urinary_tract(2) 7 TTCTTTGTTCCGTGGTGATGG 0.652000 4 163 0.014758 0.0154238 0.014758 1 0 ETV6 2120 broad.mit.edu 37 12 12037408 12037408 + Nonsense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:12037408C>T ENST00000396373.4 + 6 1313 c.1039C>T c.(1039-1041)Cag>Tag p.Q347* NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 347 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Q347*(1) ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) TTACGTCTATCAGTTGCTTTC 0.443000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 14 136 0 0 0.146539 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130219951 130219951 + Missense_Mutation SNP A A T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:130219951A>T ENST00000276211.5 + 9 1514 c.1169A>T c.(1168-1170)aAa>aTa p.K390I ARHGAP36_ENST00000370921.1_Missense_Mutation_p.K254I|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.K378I NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 390 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.K390I(1) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 CTCCTGAAAAAAGGAAAGTTT 0.468000 7 120 0 0 0.029380 0 0 SLC30A9 10463 broad.mit.edu 37 4 42069148 42069148 + Silent SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:42069148T>C ENST00000264451.7 + 14 1371 c.1191T>C c.(1189-1191)gaT>gaC p.D397D NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity p.D397D(1) central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TATTGGAGGATACTGCTGCAG 0.353000 5 110 0 0 0.021553 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092341 30092341 + RNA SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr18:30092341C>G ENST00000567636.1 + 0 716 NR_003558.1 ACCTCCAACTCAGGCAGTTTC 0.537000 4 26 0 0 0.150653 0 0 CAV1 857 broad.mit.edu 37 7 116166725 116166725 + Silent SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr7:116166725C>G ENST00000341049.2 + 2 455 c.177C>G c.(175-177)ctC>ctG p.L59L CAV1_ENST00000393467.1_Silent_p.L28L|CAV1_ENST00000393470.1_Silent_p.L48L|CAV1_ENST00000393468.1_Silent_p.L28L|CAV1_ENST00000405348.1_Silent_p.L28L NM_001753.4 NP_001744.2 Q03135 CAV1_HUMAN caveolin 1, caveolae protein, 22kDa 59 blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding p.L59L(1) endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609) STAD - Stomach adenocarcinoma(10;0.00878) CTAAACACCTCAACGATGACG 0.577000 OREG0018273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 45 0 0 0.115264 0 0 CLEC1B 51266 broad.mit.edu 37 12 10149501 10149501 + Nonsense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:10149501G>A ENST00000428126.2 - 5 552 c.283C>T c.(283-285)Cag>Tag p.Q95* CLEC1B_ENST00000348658.4_Nonsense_Mutation_p.Q95*|CLEC1B_ENST00000298527.6_Nonsense_Mutation_p.Q128* Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B 128 cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity p.Q32*(1)|p.Q128*(1) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1) 19 GTGCAGTACTGCTTACTCTCT 0.423000 6 127 0 0 0.021553 0 0 CHN2 1124 broad.mit.edu 37 7 29539546 29539546 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr7:29539546T>C ENST00000222792.6 + 9 1333 c.803T>C c.(802-804)cTc>cCc p.L268P CHN2_ENST00000424025.2_Missense_Mutation_p.L87P|CHN2_ENST00000546235.1_Missense_Mutation_p.L253P|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000439711.2_Missense_Mutation_p.L132P|CHN2_ENST00000539389.1_Missense_Mutation_p.L124P|CHN2_ENST00000409041.4_Missense_Mutation_p.L132P|CHN2_ENST00000539406.1_Missense_Mutation_p.L343P|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000495789.2_Missense_Mutation_p.L281P|CHN2_ENST00000410098.1_3'UTR NM_004067.2 NP_004058.1 P52757 CHIO_HUMAN chimerin 2 268 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity p.L268P(1)|p.L132P(1) breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 CAACCTGATCTCAAGAGGATC 0.468000 12 46 0 0 0.080935 0 0 FAT3 120114 broad.mit.edu 37 11 92087450 92087450 + Nonsense_Mutation SNP T T G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:92087450T>G ENST00000298047.6 + 1 2189 c.2172T>G c.(2170-2172)taT>taG p.Y724* FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y724*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.Y724*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y574* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 724 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.Y724*(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGGGACCATATTTTGACAAGT 0.403000 TCGA Ovarian(4;0.039) 18 155 0 0 0.055883 0 0 CLDN2 9075 broad.mit.edu 37 X 106171926 106171926 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:106171926G>A ENST00000541806.1 + 2 987 c.468G>A c.(466-468)atG>atA p.M156I CLDN2_ENST00000540876.1_Missense_Mutation_p.M156I|CLDN2_ENST00000336803.1_Missense_Mutation_p.M156I NM_001171092.1 NP_001164563.1 P57739 CLD2_HUMAN claudin 2 156 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity p.M156I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 CTGACAGCATGAAATTTGAGA 0.478000 14 63 0 0 0.105934 0 0 MYO9B 4650 broad.mit.edu 37 19 17263473 17263473 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:17263473C>G ENST00000595618.1 + 4 1107 c.955C>G c.(955-957)Ctg>Gtg p.L319V CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000594824.1_Missense_Mutation_p.L319V|MYO9B_ENST00000397274.2_Missense_Mutation_p.L319V|CTD-3032J10.2_ENST00000599360.1_RNA NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 319 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity p.L319V(2) breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CGAGAAATATCTGCTTGAAAA 0.378000 4 35 0 0 0.021553 0 0 SMPD1 6609 broad.mit.edu 37 11 6415196 6415196 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:6415196G>A ENST00000342245.4 + 5 1579 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K SMPD1_ENST00000356761.2_Missense_Mutation_p.E415K|SMPD1_ENST00000299397.3_Missense_Mutation_p.E427K|SMPD1_ENST00000527275.1_Missense_Mutation_p.E470K NM_000543.4|NM_001007593.2 NP_000534.3|NP_001007594.2 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid lysosomal 469 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity p.E427K(1)|p.E471K(1) breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) CTTCTATGATGAAGAGACTCT 0.527000 7 65 0 0 0.029380 0 0 AK9 221264 broad.mit.edu 37 6 109996891 109996891 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:109996891C>T ENST00000424296.2 - 2 134 c.58G>A c.(58-60)Gaa>Aaa p.E20K AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Missense_Mutation_p.E20K|AK9_ENST00000368948.2_Missense_Mutation_p.E20K NM_001145128.2 NP_001138600.2 adenylate kinase 9 p.E20K(2) CTTTCAGTTTCATCTTCATCA 0.289000 4 27 0 0 0.150653 0 0 KCNAB1 7881 broad.mit.edu 37 3 156234066 156234066 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:156234066C>T ENST00000302490.8 + 11 1690 c.819C>T c.(817-819)ggC>ggT p.G273G KCNAB1_ENST00000389636.5_Silent_p.G262G|KCNAB1_ENST00000471742.1_Silent_p.G280G|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Silent_p.G244G|KCNAB1_ENST00000490337.1_Silent_p.G291G NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 291 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity p.G291G(1)|p.G273G(1)|p.G280G(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TAGGTGTTGGCGCAATGACAT 0.453000 5 45 0 0 0.014758 0 0 CCDC67 159989 broad.mit.edu 37 11 93103298 93103298 + Silent SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:93103298G>C ENST00000298050.3 + 6 592 c.492G>C c.(490-492)ctG>ctC p.L164L NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 164 p.L156L(1) endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AGACTCATCTGATTTCTTTAG 0.289000 5 14 0 0 0.014758 0 0 SP2 6668 broad.mit.edu 37 17 46000404 46000404 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:46000404C>T ENST00000376741.4 + 4 1273 c.1136C>T c.(1135-1137)aCc>aTc p.T379I AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA NM_003110.5 NP_003101.3 Q02086 SP2_HUMAN Sp2 transcription factor 379 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding p.T379I(1) endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13 GCTGCAGCCACCTCTAACACC 0.587000 13 69 0 0 0.105934 0 0 FNTA 2339 broad.mit.edu 37 8 42939973 42939973 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr8:42939973G>A ENST00000529687.1 + 8 1401 c.513G>A c.(511-513)atG>atA p.M171I FNTA_ENST00000342116.4_Missense_Mutation_p.M255I|FNTA_ENST00000302279.3_Missense_Mutation_p.M322I P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha 322 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity p.M322I(1) cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 16 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) ATGAAGACATGCTAGAAAATC 0.358000 4 71 0 0 0.021553 0 0 PRPH2 5961 broad.mit.edu 37 6 42672298 42672298 + Silent SNP G G A rs61755799 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:42672298G>A ENST00000230381.5 - 2 872 c.633C>T c.(631-633)ttC>ttT p.F211F NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 211 F -> L (in RP7). cell adhesion|visual perception integral to membrane p.F211F(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) TGCAGCAGCTGAAAGGGACGC 0.562000 5 51 0 0 0.014758 0 0 PCF11 51585 broad.mit.edu 37 11 82877725 82877725 + Silent SNP A A C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:82877725A>C ENST00000298281.4 + 5 2238 c.1786A>C c.(1786-1788)Aga>Cga p.R596R NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 596 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex p.R695R(1)|p.R596R(1) cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 GTCTGCCAAAAGATGGAAATC 0.348000 4 75 0 0 0.014758 0 0 PTGIR 5739 broad.mit.edu 37 19 47124901 47124901 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:47124901G>C ENST00000291294.2 - 3 930 c.797C>G c.(796-798)cCt>cGt p.P266R PTGIR_ENST00000597185.1_5'UTR|PTGIR_ENST00000598865.1_Missense_Mutation_p.P54R|PTGIR_ENST00000594275.1_Missense_Mutation_p.P23R NM_000960.3 NP_000951.1 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 266 cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity p.P266R(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 13 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) GCTGCTGTCAGGGGCGACAGC 0.642000 10 32 0 0 0.069234 0 0 OR51S1 119692 broad.mit.edu 37 11 4869937 4869937 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:4869937G>A ENST00000322101.2 - 1 577 c.502C>T c.(502-504)Cca>Tca p.P168S MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P168S(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCAGGAATGGCAGGGGCAGA 0.552000 5 92 0 0 0.029380 0 0 NF2 4771 broad.mit.edu 37 22 30057255 30057255 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:30057255C>T ENST00000338641.4 + 8 1178 c.737C>T c.(736-738)cCt>cTt p.P246L NF2_ENST00000397789.3_Missense_Mutation_p.P246L|NF2_ENST00000353887.4_Missense_Mutation_p.P163L|NF2_ENST00000403435.1_Missense_Mutation_p.P246L|NF2_ENST00000347330.5_Missense_Mutation_p.P87L|NF2_ENST00000403999.3_Missense_Mutation_p.P246L|NF2_ENST00000334961.7_Missense_Mutation_p.P163L|NF2_ENST00000361452.4_Missense_Mutation_p.P205L|NF2_ENST00000361166.4_Missense_Mutation_p.P246L|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Missense_Mutation_p.P204L NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 246 FERM. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(3)|p.P246L(2)|p.L232_P257del(1)|p.P246fs*5(1)|p.D245fs*31(1)|p.N226_E270del(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 ATTTATGACCCTGAGAACAGA 0.502000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 11 114 0 0 0.080935 0 0 CCDC18 343099 broad.mit.edu 37 1 93683394 93683394 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:93683394C>A ENST00000343253.7 + 14 2429 c.1927C>A c.(1927-1929)Cag>Aag p.Q643K CCDC18_ENST00000338949.4_Intron|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.Q762K|CCDC18_ENST00000401026.3_Missense_Mutation_p.Q644K Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 643 p.Q762K(1) breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TCACTTGGAACAGCATAAAGA 0.303000 4 42 0.150653 0.154545 0.150653 1 0 ARID5B 84159 broad.mit.edu 37 10 63829550 63829550 + Missense_Mutation SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:63829550A>G ENST00000279873.7 + 8 1603 c.1193A>G c.(1192-1194)tAt>tGt p.Y398C ARID5B_ENST00000309334.5_Missense_Mutation_p.Y155C NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 398 ARID. liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding p.Y398C(1) NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CGCAGACATTATGAAAGGTAA 0.418000 4 31 0 0 0.014758 0 0 DLX3 1747 broad.mit.edu 37 17 48072068 48072068 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:48072068G>A ENST00000434704.2 - 1 520 c.295C>T c.(295-297)Cgg>Tgg p.R99W NM_005220.2 NP_005211.1 O60479 DLX3_HUMAN distal-less homeobox 3 99 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R99W(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 GGCTGCTCCCGATACGCCCCG 0.627000 8 29 0 0 0.047766 0 0 STXBP3 6814 broad.mit.edu 37 1 109342863 109342863 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:109342863G>A ENST00000370008.3 + 17 1521 c.1471G>A c.(1471-1473)Gat>Aat p.D491N NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 491 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding p.D491N(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) TAATAGATTAGATTCAAAAGA 0.338000 9 42 0 0 0.047766 0 0 HEPH 9843 broad.mit.edu 37 X 65486316 65486316 + Silent SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:65486316G>T ENST00000519389.1 + 21 3620 c.3441G>T c.(3439-3441)gtG>gtT p.V1147V HEPH_ENST00000441993.2_Silent_p.V1095V|HEPH_ENST00000336279.5_Silent_p.V826V|HEPH_ENST00000419594.1_Silent_p.V904V|HEPH_ENST00000343002.2_Silent_p.V1093V|HEPH_ENST00000374727.3_Silent_p.V1096V Q9BQS7 HEPH_HUMAN hephaestin 1093 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.V1093V(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 AAGGCAATGTGAAGATGCTGG 0.463000 3 32 0.115264 0.11912 0.115264 1 0 SLC22A13 9390 broad.mit.edu 37 3 38318947 38318947 + Silent SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:38318947A>G ENST00000311856.4 + 10 1696 c.1647A>G c.(1645-1647)acA>acG p.T549T NM_004256.3 NP_004247.2 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion/urate transporter), member 13 549 integral to plasma membrane organic cation transmembrane transporter activity p.T549T(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) TGAGCAGCACATACTTCTGAT 0.562000 6 67 0 0 0.021553 0 0 LRP6 4040 broad.mit.edu 37 12 12334021 12334021 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:12334021C>A ENST00000261349.4 - 6 1405 c.1329G>T c.(1327-1329)gaG>gaT p.E443D LRP6_ENST00000543091.1_Missense_Mutation_p.E443D NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 443 Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding p.E443D(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CCTCTAAGTCCTCTGAAATCA 0.448000 3 64 0.115264 0.11912 0.115264 1 0 UGDH 7358 broad.mit.edu 37 4 39523129 39523129 + Missense_Mutation SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:39523129A>G ENST00000316423.6 - 2 346 c.4T>C c.(4-6)Ttt>Ctt p.F2L UGDH_ENST00000506179.1_Missense_Mutation_p.F2L|UGDH_ENST00000515398.1_Intron|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000501493.2_Missense_Mutation_p.F2L NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 2 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity p.F2L(1) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) TTAATTTCAAACATGATTGTA 0.333000 3 58 0 0 0.115264 0 0 TDRD7 23424 broad.mit.edu 37 9 100249560 100249560 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr9:100249560C>T ENST00000355295.4 + 16 3317 c.3022C>T c.(3022-3024)Cta>Tta p.L1008L TDRD7_ENST00000540902.1_Silent_p.L328L|TDRD7_ENST00000422139.2_Silent_p.L934L NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 1008 Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity). lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding p.L1008L(1) endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) AGTACAGCCCCTAGTGGACAT 0.433000 8 78 0 0 0.038147 0 0 ABCA9 10350 broad.mit.edu 37 17 67045523 67045523 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:67045523C>T ENST00000340001.4 - 3 416 c.205G>A c.(205-207)Gat>Aat p.D69N ABCA9_ENST00000453985.2_Missense_Mutation_p.D69N|ABCA9_ENST00000370732.2_Missense_Mutation_p.D69N|ABCA9_ENST00000495634.1_Missense_Mutation_p.D69N NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 69 transport integral to membrane ATP binding|ATPase activity p.D69N(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TTAAAACTATCTACACGTCCC 0.363000 14 85 0 0 0.119110 0 0 FBXW7 55294 broad.mit.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:153247366C>G ENST00000281708.4 - 10 2665 c.1436G>C c.(1435-1437)cGa>cCa p.R479P FBXW7_ENST00000263981.5_Missense_Mutation_p.R399P|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303P|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479P|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479P|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361P NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 479 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGTGGCATCTCGAGAACCGCT 0.403000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 5 59 0 0 0.014758 0 0 ERG 2078 broad.mit.edu 37 21 39755633 39755633 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr21:39755633T>C ENST00000442448.1 - 11 1352 c.1081A>G c.(1081-1083)Atg>Gtg p.M361V ERG_ENST00000288319.7_Missense_Mutation_p.M378V|ERG_ENST00000398905.1_Missense_Mutation_p.M354V|ERG_ENST00000417133.2_Missense_Mutation_p.M385V|ERG_ENST00000398911.1_Missense_Mutation_p.M361V|ERG_ENST00000398919.2_Missense_Mutation_p.M385V|ERG_ENST00000398897.1_Missense_Mutation_p.M262V|ERG_ENST00000453032.2_Missense_Mutation_p.M286V|ERG_ENST00000398907.1_Missense_Mutation_p.M355V|ERG_ENST00000398910.1_Missense_Mutation_p.M362V NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 385 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.M385V(1) EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) ACCTTGGTCATGATGTTCTTG 0.592000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 10 85 0 0 0.069234 0 0 EIF4G2 1982 broad.mit.edu 37 11 10821761 10821761 + Silent SNP T T C rs140144694 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:10821761T>C ENST00000526148.1 - 18 2505 c.1995A>G c.(1993-1995)ctA>ctG p.L665L RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.L627L|EIF4G2_ENST00000525681.1_Silent_p.L665L|EIF4G2_ENST00000339995.5_Silent_p.L665L NM_001172705.1 NP_001166176 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 665 MI. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.L665L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TGCCACTTTCTAGTGGTTGAG 0.423000 11 49 0 0 0.069234 0 0 PTPRH 5794 broad.mit.edu 37 19 55696892 55696892 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:55696892C>T ENST00000376350.3 - 18 3062 c.3040G>A c.(3040-3042)Ggc>Agc p.G1014S PTPRH_ENST00000263434.5_Missense_Mutation_p.G836S NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1014 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.G1014S(1) breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) ATGGGTGGGCCTCCCTCCATG 0.632000 3 18 0 0 0.115264 0 0 C9orf3 84909 broad.mit.edu 37 9 97767884 97767884 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr9:97767884G>C ENST00000375315.2 + 12 2101 c.2101G>C c.(2101-2103)Gag>Cag p.E701Q C9orf3_ENST00000425634.2_Missense_Mutation_p.E63Q|C9orf3_ENST00000297979.5_Missense_Mutation_p.E602Q|C9orf3_ENST00000433691.2_Missense_Mutation_p.E42Q NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 701 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding p.E602Q(1)|p.E701Q(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GGAGAAGGAAGAGGTGTTTGA 0.522000 8 59 0 0 0.038147 0 0 DARS 1615 broad.mit.edu 37 2 136673932 136673932 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:136673932C>T ENST00000264161.4 - 11 1185 c.970G>A c.(970-972)Gaa>Aaa p.E324K DARS_ENST00000537273.1_Missense_Mutation_p.E224K NM_001349.2 NP_001340.2 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 324 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding p.E324K(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2) 15 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) GTTTGAATTTCAGTCTGAAAC 0.348000 7 87 0 0 0.038147 0 0 KCNH6 81033 broad.mit.edu 37 17 61623123 61623123 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:61623123C>G ENST00000583023.1 + 14 2856 c.2845C>G c.(2845-2847)Cta>Gta p.L949V KCNH6_ENST00000456941.2_Missense_Mutation_p.L860V|KCNH6_ENST00000314672.5_Missense_Mutation_p.L913V|KCNH6_ENST00000581784.1_Missense_Mutation_p.L860V NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 949 regulation of transcription, DNA-dependent|signal transduction p.L949V(1)|p.L949I(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) AGCCTCACCTCTACATCCCCT 0.587000 9 99 0 0 0.047766 0 0 APOA1BP 128240 broad.mit.edu 37 1 156563828 156563828 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:156563828G>A ENST00000368234.3 + 6 806 c.763G>A c.(763-765)Gaa>Aaa p.E255K APOA1BP_ENST00000368235.3_Silent_p.L273L Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 172 YjeF N-terminal. extracellular region protein binding p.L273L(1) central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGTACCAGCTGAACCTGCCAC 0.547000 7 106 0 0 0.069234 0 0 HNRNPA3 220988 broad.mit.edu 37 2 178082493 178082493 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:178082493C>T ENST00000411529.2 + 8 866 c.815C>T c.(814-816)cCa>cTa p.P272L HNRNPA3_ENST00000435711.1_Missense_Mutation_p.P294L|HNRNPA3_ENST00000392524.2_Missense_Mutation_p.P294L NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 294 Gly-rich. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding p.P294L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 GGTGGTGGACCAGGATATGGA 0.438000 10 120 0 0 0.058154 0 0 MYBPH 4608 broad.mit.edu 37 1 203139485 203139485 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:203139485C>T ENST00000255416.4 - 7 1084 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 343 Fibronectin type-III 2. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle p.E343K(1) endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) CACAGGTTTTCTGAGAAGACC 0.597000 3 48 0 0 0.115264 0 0 ZNF74 7625 broad.mit.edu 37 22 20749694 20749694 + Missense_Mutation SNP G G A rs139227842 by1000genomes TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:20749694G>A ENST00000400451.2 + 2 620 c.106G>A c.(106-108)Gaa>Aaa p.E36K ZNF74_ENST00000357502.5_Missense_Mutation_p.R41Q|ZNF74_ENST00000403682.3_Intron|ZNF74_ENST00000405993.1_Missense_Mutation_p.E36K|ZNF74_ENST00000356671.5_Missense_Mutation_p.E36K NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 36 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding p.E36K(1) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GGGTCTTCCCGAAGCCAGGTC 0.532000 4 57 0 0 0.150653 0 0 ZZEF1 23140 broad.mit.edu 37 17 4015972 4015972 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:4015972C>G ENST00000381638.2 - 5 1121 c.997G>C c.(997-999)Gat>Cat p.D333H ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 333 DOC. calcium ion binding|zinc ion binding p.D333H(1) central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 ATGTGCACATCTCGGACTTCC 0.542000 4 34 0 0 0.150653 0 0 VWA8 23078 broad.mit.edu 37 13 42385394 42385394 + Missense_Mutation SNP A A C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr13:42385394A>C ENST00000379310.3 - 17 2098 c.2030T>G c.(2029-2031)cTt>cGt p.L677R VWA8_ENST00000281496.6_Missense_Mutation_p.L677R NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 p.L677R(1) AGCACTGTGAAGATTTTCATT 0.383000 6 53 0 0 0.029380 0 0 LOC150776 150776 broad.mit.edu 37 2 132276730 132276730 + RNA SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:132276730C>T ENST00000438378.2 + 0 2050 NR_026922.1 CATGGCTGGGCTTTAGCTCCA 0.597000 8 50 0 0 0.038147 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671406 39671406 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr21:39671406G>A ENST00000328656.4 + 4 526 c.223G>A c.(223-225)Gtg>Atg p.V75M KCNJ15_ENST00000398934.1_Missense_Mutation_p.V75M|KCNJ15_ENST00000398932.1_Missense_Mutation_p.V75M|KCNJ15_ENST00000398930.1_Missense_Mutation_p.V75M|KCNJ15_ENST00000398938.2_Missense_Mutation_p.V75M NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3 NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2 Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity p.V75M(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 TGCCACTTTTGTGATGACCTG 0.473000 7 88 0 0 0.038147 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29511315 29511315 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr18:29511315C>T ENST00000283351.4 - 2 664 c.329G>A c.(328-330)gGa>gAa p.G110E TRAPPC8_ENST00000582539.1_Missense_Mutation_p.G56E|TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.G110E NM_014939.3 NP_055754 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 110 ER to Golgi vesicle-mediated transport cis-Golgi network p.G110E(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GTCATAATCTCCTGCTGTAAT 0.408000 10 94 0 0 0.080935 0 0 KDM3B 51780 broad.mit.edu 37 5 137756428 137756428 + Missense_Mutation SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:137756428A>G ENST00000314358.5 + 15 3949 c.3749A>G c.(3748-3750)gAg>gGg p.E1250G KDM3B_ENST00000542866.1_Missense_Mutation_p.E282G|KDM3B_ENST00000394866.1_Missense_Mutation_p.E906G|KDM3B_ENST00000508386.1_3'UTR NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1250 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.E1250G(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 CTCAATAAAGAGTCTCATTCA 0.483000 10 66 0 0 0.080935 0 0 RIPPLY1 92129 broad.mit.edu 37 X 106144121 106144121 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:106144121G>A ENST00000276173.4 - 4 343 c.314C>T c.(313-315)tCc>tTc p.S105F CLDN2_ENST00000541806.1_Intron|RIPPLY1_ENST00000411805.1_Missense_Mutation_p.S58F NM_138382.2 NP_612391.1 Q0D2K3 RIPP1_HUMAN ripply transcriptional repressor 1 105 Ripply homology domain. negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent nucleus p.S105F(1) lung(1)|urinary_tract(1) 2 GAAGGAGCGGGATTTAGGCCA 0.522000 5 6 0 0 0.014758 0 0 LGR5 8549 broad.mit.edu 37 12 71977788 71977788 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:71977788G>A ENST00000266674.5 + 18 2309 c.1998G>A c.(1996-1998)gtG>gtA p.V666V LGR5_ENST00000540815.2_Silent_p.V642V|LGR5_ENST00000536515.1_Silent_p.V594V O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 666 V -> A (in dbSNP:rs17109924). integral to plasma membrane protein-hormone receptor activity p.V666V(1) NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 GGTTCTCTGTGAAATATTCTG 0.463000 13 142 0 0 0.105934 0 0 ATP2B2 491 broad.mit.edu 37 3 10370803 10370803 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:10370803C>T ENST00000397077.1 - 22 3867 c.3292G>A c.(3292-3294)Gtc>Atc p.V1098I ATP2B2_ENST00000383800.4_Missense_Mutation_p.V1098I|ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V1143I|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V1129I|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V1143I Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1143 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding p.V1143I(1)|p.V1098I(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 GCCTTCACGACGCGGATCTGC 0.582000 4 57 0 0 0.150653 0 0 ADCK3 56997 broad.mit.edu 37 1 227174193 227174193 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:227174193G>T ENST00000366779.1 + 20 4470 c.1699G>T c.(1699-1701)Ggg>Tgg p.G567W ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.G515W|ADCK3_ENST00000458507.2_Missense_Mutation_p.G288W|ADCK3_ENST00000433743.2_Missense_Mutation_p.G241W|ADCK3_ENST00000366777.3_Missense_Mutation_p.G567W Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 567 cell death mitochondrion ATP binding|protein serine/threonine kinase activity p.G567W(1)|p.G288W(1) endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 CCTCATCCTGGGGGAGGCCTT 0.587000 8 56 0.000157383 0.000170243 0.038147 1 0 APOB 338 broad.mit.edu 37 2 21228278 21228278 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:21228278G>C ENST00000233242.1 - 26 11589 c.11462C>G c.(11461-11463)aCt>aGt p.T3821S NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 3821 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.T3821S(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGGGACACAGTTAACTGAGA 0.423000 4 167 0 0 0.014758 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33624410 33624410 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:33624410C>T ENST00000504830.1 - 14 2404 c.2069G>A c.(2068-2070)cGc>cAc p.R690H ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 690 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R690H(2) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CACACCGCAGCGATCCTCGGT 0.502000 HNSCC(64;0.19) 5 49 0 0 0.014758 0 0 SLC4A8 9498 broad.mit.edu 37 12 51890800 51890800 + Silent SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:51890800C>G ENST00000453097.2 + 22 3190 c.2973C>G c.(2971-2973)gtC>gtG p.V991V SLC4A8_ENST00000358657.3_Silent_p.V1018V NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 991 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity p.V991V(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TCAGGAAAGTCATGGATCTCT 0.398000 5 75 0 0 0.021553 0 0 KRBA2 124751 broad.mit.edu 37 17 8273001 8273001 + Silent SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:8273001T>C ENST00000396267.1 - 2 1515 c.684A>G c.(682-684)ttA>ttG p.L228L RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000331336.2_Silent_p.L310L|RP11-849F2.5_ENST00000583963.1_RNA Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 310 DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding p.L310L(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1) 18 TGAAAATATCTAACAAGACAC 0.418000 6 44 0 0 0.021553 0 0 CORO7 79585 broad.mit.edu 37 16 4466517 4466517 + Translation_Start_Site SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:4466517C>T ENST00000251166.4 - 1 148 c.3G>A c.(1-3)atG>atA p.M1I CORO7_ENST00000423908.2_Start_Codon_SNP_p.M1I|CORO7_ENST00000537233.2_Start_Codon_SNP_p.M1I|CORO7-PAM16_ENST00000572467.1_Start_Codon_SNP_p.M1I|CORO7_ENST00000574025.1_Start_Codon_SNP_p.M1I NM_024535.4 NP_078811.3 coronin 7 p.M1I(1) breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 TGAAGCGGTTCATGGCGACGG 0.756000 4 23 0 0 0.150653 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457514 110457514 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr8:110457514C>T ENST00000378402.5 + 38 5520 c.5416C>T c.(5416-5418)Cca>Tca p.P1806S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1806 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity p.P1808S(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GACTCCTCTCCCAGTTGGACA 0.468000 HNSCC(38;0.096) 7 67 0 0 0.029380 0 0 PDYN 5173 broad.mit.edu 37 20 1961214 1961214 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr20:1961214G>A ENST00000217305.2 - 4 745 c.520C>T c.(520-522)Cgc>Tgc p.R174C RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R174C|PDYN_ENST00000540134.1_Missense_Mutation_p.R174C NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 174 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity p.R174C(2) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCCCCATAGCGTTTGACCTGC 0.582000 6 81 0 0 0.021553 0 0 SCP2 6342 broad.mit.edu 37 1 53504595 53504595 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:53504595G>A ENST00000371514.3 + 14 1513 c.1345G>A c.(1345-1347)Gaa>Aaa p.E449K SCP2_ENST00000488965.1_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.E425K|SCP2_ENST00000435345.2_Missense_Mutation_p.E45K|SCP2_ENST00000430330.2_Missense_Mutation_p.E42K|SCP2_ENST00000528311.1_Missense_Mutation_p.E368K|SCP2_ENST00000408941.3_Intron|SCP2_ENST00000371509.4_Missense_Mutation_p.E405K NM_002979.4 NP_002970.2 P22307 NLTP_HUMAN sterol carrier protein 2 449 SCP2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding p.E449K(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 CCAGGAAGGGGAACAGTTTGT 0.423000 10 110 0 0 0.080935 0 0 ERCC6 2074 broad.mit.edu 37 10 50732248 50732248 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:50732248C>T ENST00000355832.5 - 5 1306 c.1228G>A c.(1228-1230)Ggc>Agc p.G410S ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.G410S|PGBD3_ENST00000603152.1_Missense_Mutation_p.G410S|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.G410S|PGBD3_ENST00000374127.3_5'UTR NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 410 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding p.G410S(1) breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CGTTTCCCGCCCTTGGGCAGA 0.552000 Direct reversal of damage;Nucleotide excision repair (NER) 3 69 0 0 0.115264 0 0 SEC61A2 55176 broad.mit.edu 37 10 12204226 12204226 + Silent SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:12204226G>T ENST00000379033.3 + 10 1263 c.1116G>T c.(1114-1116)ctG>ctT p.L372L SEC61A2_ENST00000304267.8_Silent_p.L394L|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Silent_p.L394L|SEC61A2_ENST00000379020.4_Silent_p.L328L NM_001142628.1 NP_001136100.1 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) 394 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity p.L394L(2) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) CTAAACAGCTGAAAGAACAGC 0.458000 14 193 1.15088e-07 1.31125e-07 0.146539 1 0 IGLV11-55 28770 broad.mit.edu 37 22 22556409 22556409 + RNA SNP T T G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:22556409T>G ENST00000390286.2 + 0 235 CTACTCAGACTCAGACAAGCA 0.542000 OREG0026354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 73 0 0 0.029380 0 0 GATAD2B 57459 broad.mit.edu 37 1 153792155 153792155 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:153792155T>C ENST00000368655.4 - 3 635 c.392A>G c.(391-393)aAt>aGt p.N131S NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 131 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N131S(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGAAGCCTCATTGTCAGACAA 0.398000 13 90 0 0 0.119110 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724195 7724195 + Nonsense_Mutation SNP A A T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:7724195A>T ENST00000303635.7 + 9 1795 c.1588A>T c.(1588-1590)Aag>Tag p.K530* CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.K530* NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.K530*(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CGTCCTCACCAAGGAGATCAA 0.637000 T WWTR1 epitheliod hemangioendothelioma 5 59 0 0 0.021553 0 0 SMG1 23049 broad.mit.edu 37 16 18859259 18859259 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:18859259G>A ENST00000446231.2 - 37 6132 c.5720C>T c.(5719-5721)tCt>tTt p.S1907F SMG1_ENST00000389467.3_Missense_Mutation_p.S1907F Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1907 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S1903F(1)|p.S1907F(1) NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 GCTATCCTGAGATGCAGGAGG 0.398000 13 63 0 0 0.105934 0 0 FTSJ3 117246 broad.mit.edu 37 17 61897650 61897650 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:61897650T>C ENST00000427159.2 - 19 2866 c.2221A>G c.(2221-2223)Aag>Gag p.K741E NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 741 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding p.K741E(1) breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TCAGCCACCTTCTTGATGGGA 0.562000 8 105 0 0 0.047766 0 0 HSP90B1 7184 broad.mit.edu 37 12 104336352 104336352 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:104336352G>A ENST00000299767.5 + 12 1604 c.1422G>A c.(1420-1422)aaG>aaA p.K474K NM_003299.2 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 474 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding p.K474K(1) central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) TGATCAAGAAGATTGCTGATG 0.363000 4 54 0 0 0.150653 0 0 EGFL7 51162 broad.mit.edu 37 9 139563050 139563050 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr9:139563050C>G ENST00000371699.1 + 4 1033 c.122C>G c.(121-123)tCc>tGc p.S41C EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000371698.3_Missense_Mutation_p.S41C|EGFL7_ENST00000406555.3_Missense_Mutation_p.S41C|EGFL7_ENST00000308874.7_Missense_Mutation_p.S41C Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 41 EMI. angiogenesis|vasculogenesis calcium ion binding p.S41C(1) kidney(2)|ovary(1)|prostate(2)|urinary_tract(1) 6 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) GACCCTGTCTCCGAGTCGTTC 0.677000 11 97 0 0 0.069234 0 0 THSD7B 80731 broad.mit.edu 37 2 138320875 138320875 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:138320875G>C ENST00000409968.1 + 16 3401 c.3223G>C c.(3223-3225)Gag>Cag p.E1075Q THSD7B_ENST00000272643.3_Missense_Mutation_p.E1078Q|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1047Q thrombospondin, type I, domain containing 7B p.E1078Q(1)|p.E1047Q(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AATCAACAATGAGCTGAGGTC 0.453000 4 24 0 0 0.150653 0 0 C1orf146 388649 broad.mit.edu 37 1 92709803 92709803 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:92709803G>A ENST00000370373.2 + 5 477 c.13G>A c.(13-15)Gaa>Aaa p.E5K C1orf146_ENST00000370375.3_Missense_Mutation_p.E64K Q5VVC0 CA146_HUMAN chromosome 1 open reading frame 146 64 p.E64K(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 all_lung(203;0.00528)|Lung NSC(277;0.0193) all cancers(265;0.00846)|Epithelial(280;0.0952) GGATACTAAGGAATGTCTTCT 0.299000 6 42 0 0 0.021553 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 32077616 32077616 + RNA SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:32077616C>A ENST00000354689.6 + 0 231 RP11-1166P10.6_ENST00000566806.1_RNA ACGCCAAGAACTCACTGTATC 0.502000 22 385 2.32416e-17 2.71477e-17 0.069288 1 0 RP11-375N15.2 0 broad.mit.edu 37 8 9413396 9413396 + RNA SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr8:9413396G>C ENST00000607598.1 - 0 634 AGTCGGAAGTGAGGGCGGGCG 0.607000 6 27 0 0 0.021553 0 0 PEAK1 79834 broad.mit.edu 37 15 77472430 77472430 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr15:77472430C>T ENST00000560626.2 - 4 2314 c.1839G>A c.(1837-1839)gaG>gaA p.E613E PEAK1_ENST00000312493.4_Silent_p.E613E|PEAK1_ENST00000558305.1_Silent_p.E613E Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 613 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.E613E(2) CATAAGTTGGCTCGTCATGAA 0.348000 11 142 0 0 0.105934 0 0 TSPYL1 7259 broad.mit.edu 37 6 116600201 116600201 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:116600201G>C ENST00000368608.3 - 1 865 c.793C>G c.(793-795)Ctg>Gtg p.L265V DSE_ENST00000540275.1_Intron NM_003309.3 NP_003300.1 Q9H0U9 TSYL1_HUMAN TSPY-like 1 265 nucleosome assembly nucleolus p.L265V(1) breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094) CTCCGCTCCAGGTAGTGTCGA 0.562000 8 84 0 0 0.038147 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104478538 104478538 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:104478538G>C ENST00000372582.1 + 4 1149 c.393G>C c.(391-393)ttG>ttC p.L131F IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L131F NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 131 Ig-like C2-type 1. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity p.L131F(1) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CAATGTCCTTGACTGTTGCAG 0.393000 9 71 0 0 0.058154 0 0 BTN3A3 10384 broad.mit.edu 37 6 26451934 26451934 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:26451934C>T ENST00000244519.2 + 11 1293 c.1050C>T c.(1048-1050)aaC>aaT p.N350N BTN3A3_ENST00000361232.3_Silent_p.N301N|BTN3A3_ENST00000339789.4_Silent_p.N308N NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 350 B30.2/SPRY. integral to membrane p.N350N(1) cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 ACACGGCAAACGCCATCCTCC 0.542000 4 55 0 0 0.014758 0 0 ASH1L 55870 broad.mit.edu 37 1 155449667 155449667 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:155449667C>G ENST00000368346.3 - 3 3633 c.2994G>C c.(2992-2994)ttG>ttC p.L998F ASH1L_ENST00000392403.3_Missense_Mutation_p.L998F Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 998 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.L998F(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GAATCTGATTCAACAGTTTCT 0.313000 5 75 0 0 0.014758 0 0 HSPBP1 23640 broad.mit.edu 37 19 55776711 55776711 + Nonsense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:55776711C>A ENST00000255631.5 - 8 1250 c.940G>T c.(940-942)Gaa>Taa p.E314* HSPBP1_ENST00000587922.1_Nonsense_Mutation_p.E314*|HSPBP1_ENST00000376343.3_Nonsense_Mutation_p.E212*|HSPBP1_ENST00000433386.2_Nonsense_Mutation_p.E314* NM_001130106.1|NM_012267.4 NP_001123578.1|NP_036399.3 Q9NZL4 HPBP1_HUMAN HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 317 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding p.E314*(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) AGGCCCAGTTCCGGCTCCCGA 0.647000 7 93 0.000157383 0.000170243 0.038147 1 0 LTBP2 4053 broad.mit.edu 37 14 74973930 74973930 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr14:74973930G>C ENST00000261978.4 - 26 4245 c.3859C>G c.(3859-3861)Ctg>Gtg p.L1287V LTBP2_ENST00000556690.1_Intron NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1287 Cys-rich.|EGF-like 14; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding p.L1287V(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TGGCAGCCCAGAACACAGCGG 0.567000 6 57 0 0 0.038147 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49967904 49967904 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:49967904C>T ENST00000293350.4 + 12 1616 c.1453C>T c.(1453-1455)Ctg>Ttg p.L485L CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Silent_p.L320L|ALDH16A1_ENST00000540132.1_Silent_p.L322L|ALDH16A1_ENST00000455361.2_Silent_p.L434L NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 485 oxidoreductase activity|protein binding p.L485L(1) cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) GTATGAGTATCTGCGGCCCTC 0.662000 9 137 0 0 0.047766 0 0 AOAH 313 broad.mit.edu 37 7 36571798 36571798 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr7:36571798G>A ENST00000431169.1 - 18 1680 c.1380C>T c.(1378-1380)caC>caT p.H460H AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000535891.1_Silent_p.H428H|AOAH_ENST00000258749.5_Silent_p.H460H|AOAH_ENST00000538464.1_Silent_p.H182H NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 460 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity p.H460H(2) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 ACATCCAGCCGTGGCAGGGGC 0.512000 7 61 0 0 0.038147 0 0 ERCC2 2068 broad.mit.edu 37 19 45855835 45855835 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:45855835G>A ENST00000391945.4 - 21 2052 c.1975C>T c.(1975-1977)Cac>Tac p.H659Y ERCC2_ENST00000391944.3_Missense_Mutation_p.H581Y NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 659 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding p.H659Y(1) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TGGGCCGCGTGGCGCATGGCA 0.612000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 19 57 0 0 0.175082 0 0 PLXNB2 23654 broad.mit.edu 37 22 50718479 50718479 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:50718479C>A ENST00000449103.1 - 26 4337 c.4197G>T c.(4195-4197)agG>agT p.R1399S PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1399S O15031 PLXB2_HUMAN plexin B2 1399 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity p.R1442S(1) breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGGACAGCATCCTCTCCACCA 0.612000 5 38 1.23904e-05 1.37232e-05 0.014758 1 0 ASIC1 41 broad.mit.edu 37 12 50453726 50453726 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:50453726G>A ENST00000228468.4 + 3 932 c.547G>A c.(547-549)Gac>Aac p.D183N ASIC1_ENST00000447966.2_Missense_Mutation_p.D183N NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 183 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding p.D183N(1) Amiloride(DB00594) CAGCGCTGAAGACTTCAAGGT 0.617000 5 39 0 0 0.014758 0 0 AMN1 196394 broad.mit.edu 37 12 31850769 31850769 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:31850769C>T ENST00000281471.6 - 4 604 c.439G>A c.(439-441)Gat>Aat p.D147N AMN1_ENST00000537562.1_Missense_Mutation_p.D129N|AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000536761.1_Missense_Mutation_p.D129N|AMN1_ENST00000542781.1_5'UTR NM_001113402.1|NM_001278411.1|NM_001278412.1 NP_001106873.1|NP_001265340.1|NP_001265341.1 Q8IY45 AMN1_HUMAN antagonist of mitotic exit network 1 homolog (S. cerevisiae) 147 p.D147N(1) breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 7 all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162) OV - Ovarian serous cystadenocarcinoma(6;0.0014) CCACCTAAATCGATGATCTTT 0.418000 4 75 0 0 0.150653 0 0 THAP11 57215 broad.mit.edu 37 16 67876802 67876802 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:67876802G>A ENST00000303596.1 + 1 590 c.345G>A c.(343-345)caG>caA p.Q115Q CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 115 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding p.Q115Q(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) agcaacagcagcaacagcagc 0.682000 3 64 0 0 0.115264 0 0 BDKRB1 623 broad.mit.edu 37 14 96730151 96730151 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr14:96730151C>G ENST00000216629.6 + 3 738 c.132C>G c.(130-132)atC>atG p.I44M RP11-404P21.8_ENST00000553811.1_3'UTR|RP11-404P21.3_ENST00000553638.1_RNA|RP11-404P21.8_ENST00000555847.1_3'UTR|BDKRB1_ENST00000553356.1_Missense_Mutation_p.I44M NM_000710.3 NP_000701.2 P46663 BKRB1_HUMAN bradykinin receptor B1 44 elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity p.I44M(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1) 16 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) CAACATTTATCATCTCCATCT 0.542000 4 51 0 0 0.150653 0 0 TPR 7175 broad.mit.edu 37 1 186329966 186329966 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:186329966C>G ENST00000367478.4 - 10 1326 c.1030G>C c.(1030-1032)Gag>Cag p.E344Q TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.E345Q(1)|p.E344Q(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CCTATTTTCTCAAGCATTTCT 0.348000 T NTRK1 papillary thyroid 3 51 0 0 0.115264 0 0 UGT2B10 7365 broad.mit.edu 37 4 69692212 69692212 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:69692212C>T ENST00000265403.7 + 4 1111 c.1084C>T c.(1084-1086)Cta>Tta p.L362L UGT2B10_ENST00000458688.2_Silent_p.L278L NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 362 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.L362L(2) endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GAATGACCTTCTAGGTAACAC 0.378000 5 63 0 0 0.021553 0 0 MAP7D1 55700 broad.mit.edu 37 1 36636690 36636690 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:36636690G>T ENST00000316156.4 + 2 618 c.165G>T c.(163-165)atG>atT p.M55I MAP7D1_ENST00000373151.2_Missense_Mutation_p.M55I|MAP7D1_ENST00000373150.4_Missense_Mutation_p.M55I Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 55 Pro-rich. cytoplasm|spindle p.M55I(1) breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) CTCCTGCCATGAAGAATGCCA 0.652000 9 88 2.74318e-10 3.17752e-10 0.058154 1 0 GUCY1B3 2983 broad.mit.edu 37 4 156715077 156715077 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:156715077G>C ENST00000264424.8 + 6 647 c.565G>C c.(565-567)Gag>Cag p.E189Q GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E121Q|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E121Q|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E189Q|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E121Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E211Q|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E169Q NM_000857.2 NP_000848.1 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 189 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity p.E189Q(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) GTCAAAAGAAGAGGATTTTTA 0.333000 5 53 0 0 0.014758 0 0 XRCC1 7515 broad.mit.edu 37 19 44079154 44079154 + Splice_Site SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:44079154T>C ENST00000262887.5 - 2 599 c.52A>G c.(52-54)Act>Gct p.T18A L34079.2_ENST00000594374.1_Intron|XRCC1_ENST00000543982.1_Intron|L34079.4_ENST00000600242.1_RNA P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 18 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding p.T18A(1) breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) GCACAGTGAGTCTGGAAACAA 0.527000 Other BER factors 6 26 0 0 0.021553 0 0 GRIA1 2890 broad.mit.edu 37 5 153174194 153174194 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:153174194C>A ENST00000285900.5 + 14 2627 c.2284C>A c.(2284-2286)Ctg>Atg p.L762M GRIA1_ENST00000518142.1_Missense_Mutation_p.L682M|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000521843.2_Missense_Mutation_p.L693M|GRIA1_ENST00000518783.1_Missense_Mutation_p.L772M|GRIA1_ENST00000340592.5_Intron NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 762 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding p.L762M(1) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCCAGTAAACCTGGCAGTGTT 0.468000 3 41 0.00024832 0.000266537 0.150653 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43625185 43625185 + Nonsense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr9:43625185G>A ENST00000332857.6 - 4 3530 c.3502C>T c.(3502-3504)Cag>Tag p.Q1168* NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.Q1168*(1) AAAATCCACTGAAAAAATTGC 0.428000 9 186 0 0 0.093190 0 0 TENM1 10178 broad.mit.edu 37 X 123805551 123805551 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:123805551C>T ENST00000422452.2 - 6 1213 c.1150G>A c.(1150-1152)Gat>Aat p.D384N TENM1_ENST00000371130.3_Missense_Mutation_p.D384N NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 p.D386N(1) TCTGATTTATCAGAAACTTTT 0.398000 9 55 0 0 0.047766 0 0 PRPF31 26121 broad.mit.edu 37 19 54632680 54632680 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:54632680G>C ENST00000321030.4 + 13 1658 c.1309G>C c.(1309-1311)Ggg>Cgg p.G437R PRPF31_ENST00000419967.1_Missense_Mutation_p.R414P|PRPF31_ENST00000391755.1_Missense_Mutation_p.G431R NM_015629.3 NP_056444.3 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 437 assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding p.G437>?(1)|p.G437R(1) breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3) 12 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CGTATATGGCGGGAAGTCCAC 0.701000 OREG0003636 type=REGULATORY REGION|Gene=AK091105|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 11 0 0 0.115264 0 0 GPR116 221395 broad.mit.edu 37 6 46849233 46849233 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:46849233G>A ENST00000283296.7 - 8 1061 c.773C>T c.(772-774)aCc>aTc p.T258I GPR116_ENST00000456426.2_Missense_Mutation_p.T258I|GPR116_ENST00000362015.4_Missense_Mutation_p.T258I|GPR116_ENST00000265417.7_Missense_Mutation_p.T258I NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 258 SEA. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.T258I(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CATTTTGTAGGTCTGATTGAG 0.368000 5 66 0 0 0.014758 0 0 TTN 7273 broad.mit.edu 37 2 179404175 179404175 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:179404175C>T ENST00000589042.1 - 352 98841 c.98617G>A c.(98617-98619)Gaa>Aaa p.E32873K TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23808K|TTN_ENST00000342992.6_Missense_Mutation_p.E30305K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24000K|TTN_ENST00000591111.1_Missense_Mutation_p.E31232K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23933K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31232 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E30303K(1)|p.E30305K(1)|p.E24000K(1)|p.E23808K(1)|p.E23933K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACTGGTTTTCTGCTGAAACA 0.418000 7 77 0 0 0.029380 0 0 STH 246744 broad.mit.edu 37 17 44076786 44076786 + Silent SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:44076786C>A ENST00000537309.1 + 1 171 c.141C>A c.(139-141)acC>acA p.T47T MAPT_ENST00000262410.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron NM_001007532.2 NP_001007533.1 Q8IWL8 STH_HUMAN saitohin 47 cytoplasm|nucleus p.T47T(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGACAGAACCCTCAGCTTAG 0.537000 5 42 0.000602214 0.000638991 0.014758 1 0 INTS1 26173 broad.mit.edu 37 7 1513805 1513805 + Splice_Site SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr7:1513805A>G ENST00000389470.4 - 42 6439 c.6440T>C c.(6439-6441)cTg>cCg p.L2147P INTS1_ENST00000404767.3_Splice_Site_p.L1943P Q8N201 INT1_HUMAN integrator complex subunit 1 1943 snRNA processing integral to membrane|integrator complex|nuclear membrane p.L2147P(1) autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) AGCACACACCAGCAGCAGGCG 0.706000 OREG0017827 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 13 0 0 0.150653 0 0 GRM4 2914 broad.mit.edu 37 6 34003916 34003916 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:34003916G>C ENST00000538487.2 - 9 2414 c.1971C>G c.(1969-1971)atC>atG p.I657M GRM4_ENST00000455714.2_Missense_Mutation_p.I517M|GRM4_ENST00000609222.1_Missense_Mutation_p.I524M|GRM4_ENST00000544773.2_Missense_Mutation_p.I488M|GRM4_ENST00000535756.1_Missense_Mutation_p.I524M|GRM4_ENST00000374177.3_Missense_Mutation_p.I541M|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.I657M 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 p.I657M(2)|p.I541M(1) 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) GTCCCAGGAAGATTCGGCGCA 0.602000 5 43 0 0 0.014758 0 0 PTENP1 11191 broad.mit.edu 37 9 33676580 33676580 + RNA SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr9:33676580C>A ENST00000532280.1 - 0 917 NR_023917.1 TAGGTCAAGTCTAAGTCGAAT 0.393000 18 75 1.67942e-08 1.92925e-08 0.175082 1 0 TRIM36 55521 broad.mit.edu 37 5 114499268 114499268 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:114499268C>T ENST00000513154.1 - 2 535 c.209G>A c.(208-210)cGa>cAa p.R70Q TRIM36_ENST00000282369.3_Missense_Mutation_p.R82Q|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron Q9NQ86 TRI36_HUMAN tripartite motif containing 36 82 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding p.R82Q(1) breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) GAGCCGAAGTCGAGGACTGCT 0.448000 5 63 0 0 0.014758 0 0 HSP90B1 7184 broad.mit.edu 37 12 104336567 104336567 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:104336567G>C ENST00000299767.5 + 12 1819 c.1637G>C c.(1636-1638)aGa>aCa p.R546T NM_003299.2 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 546 actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding p.R546T(1) central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) GGGTCCAGCAGAAAAGAGGTG 0.418000 6 71 0 0 0.021553 0 0 TEAD3 7005 broad.mit.edu 37 6 35454253 35454253 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:35454253C>G ENST00000338863.7 - 2 414 c.187G>C c.(187-189)Gag>Cag p.E63Q TEAD3_ENST00000402886.3_Silent_p.T45T NM_003214.3 NP_003205 Q99594 TEAD3_HUMAN TEA domain family member 3 63 female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.E63Q(1)|p.E79Q(1) central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 10 ATCTTGCCCTCGTCTGACAGG 0.697000 5 40 0 0 0.014758 0 0 CIC 23152 broad.mit.edu 37 19 42793047 42793047 + Silent SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:42793047T>C ENST00000572681.2 + 8 3734 c.3666T>C c.(3664-3666)tcT>tcC p.S1222S CIC_ENST00000575354.2_Silent_p.S313S|CIC_ENST00000160740.3_Silent_p.S313S Q96RK0 CIC_HUMAN capicua transcriptional repressor 313 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.S313S(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CAGTGTCCTCTGAGCTCCTGT 0.562000 """Mis, F, S""" oligodendroglioma 5 42 0 0 0.146539 0 0 MMP16 4325 broad.mit.edu 37 8 89198769 89198769 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr8:89198769G>A ENST00000286614.6 - 3 621 c.340C>T c.(340-342)Cat>Tat p.H114Y MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 114 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding p.H114Y(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CGACGAATATGAAATTTGGAG 0.413000 9 154 0 0 0.058154 0 0 NR2F2 7026 broad.mit.edu 37 15 96880592 96880592 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr15:96880592C>T ENST00000394166.3 + 3 2375 c.986C>T c.(985-987)tCt>tTt p.S329F NR2F2_ENST00000453270.2_Missense_Mutation_p.S176F|NR2F2_ENST00000394171.2_Missense_Mutation_p.S176F|NR2F2_ENST00000421109.2_Missense_Mutation_p.S196F NM_021005.3 NP_066285.1 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 329 Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding p.S329F(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) TGTGGTCTCTCTGATGTAGCC 0.423000 6 66 0 0 0.021553 0 0 NID2 22795 broad.mit.edu 37 14 52481073 52481073 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr14:52481073T>C ENST00000216286.5 - 16 3351 c.3352A>G c.(3352-3354)Att>Gtt p.I1118V NID2_ENST00000541773.1_Missense_Mutation_p.I1017V NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1118 basement membrane calcium ion binding|collagen binding p.I1118V(1) NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) AAGTAGCCAATCTGCTGGCCC 0.592000 OREG0022678 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 40 0 0 0.058154 0 0 RNF41 10193 broad.mit.edu 37 12 56600547 56600547 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:56600547C>T ENST00000345093.4 - 7 1007 c.638G>A c.(637-639)cGc>cAc p.R213H RNF41_ENST00000394013.2_Missense_Mutation_p.R142H|RNF41_ENST00000552656.1_Missense_Mutation_p.R213H NM_005785.3|NM_194359.2 NP_005776.1|NP_919340.1 Q9H4P4 RNF41_HUMAN ring finger protein 41 213 apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding p.R213H(1) breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 11 CCCTCCCCAGCGGGTCACTCT 0.537000 OREG0021921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 31 0 0 0.115264 0 0 KTI12 112970 broad.mit.edu 37 1 52499087 52499087 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:52499087C>T ENST00000371614.1 - 1 401 c.347G>A c.(346-348)gGa>gAa p.G116E TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA NM_138417.2 NP_612426.1 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated (S. cerevisiae) 116 ATP binding p.G116E(1) central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1) 12 CACCTGAGGTCCCGCGATCGG 0.701000 5 65 0 0 0.021553 0 0 SLC22A15 55356 broad.mit.edu 37 1 116569600 116569600 + Missense_Mutation SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:116569600A>G ENST00000369503.4 + 5 815 c.685A>G c.(685-687)Att>Gtt p.I229V SLC22A15_ENST00000369502.1_Missense_Mutation_p.I229V NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 229 ion transport integral to membrane transmembrane transporter activity p.I229V(2) endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GACCCTAGCCATTCTGGTTAA 0.433000 8 105 0 0 0.038147 0 0 DST 667 broad.mit.edu 37 6 56401661 56401661 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:56401661C>T ENST00000370754.5 - 62 16592 c.16593G>A c.(16591-16593)caG>caA p.Q5531Q DST_ENST00000370788.2_Silent_p.Q3265Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.Q5353Q|DST_ENST00000446842.2_Silent_p.Q5027Q|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Silent_p.Q5351Q|DST_ENST00000244364.6_Silent_p.Q2939Q|DST_ENST00000421834.2_Silent_p.Q3265Q Q03001 DYST_HUMAN dystonin 5351 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.Q5353Q(1)|p.Q2939Q(1) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGGCAGCACTCTGAATAAGGC 0.433000 5 62 0 0 0.014758 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37732221 37732221 + Silent SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr8:37732221C>G ENST00000330843.4 - 3 1446 c.1434G>C c.(1432-1434)ggG>ggC p.G478G RAB11FIP1_ENST00000524118.1_Silent_p.G330G|RAB11FIP1_ENST00000522727.1_Silent_p.G330G|RAB11FIP1_ENST00000287263.4_Silent_p.G478G NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 478 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding p.G478G(1) NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTTCAGCAGGCCCCGATGCGT 0.557000 3 134 0 0 0.150653 0 0 CORO2B 10391 broad.mit.edu 37 15 68937671 68937671 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr15:68937671G>T ENST00000543950.1 + 2 527 c.173G>T c.(172-174)gGc>gTc p.G58V CORO2B_ENST00000540068.1_Missense_Mutation_p.G58V|CORO2B_ENST00000261861.5_Missense_Mutation_p.G58V|CORO2B_ENST00000566799.1_Missense_Mutation_p.G63V NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 63 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding p.G63V(1)|p.G63>?(1) kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GCAGGGGGCGGCTCCTTCCTC 0.622000 4 68 0.150653 0.154545 0.150653 1 0 AHNAK2 113146 broad.mit.edu 37 14 105408255 105408255 + Silent SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr14:105408255G>T ENST00000333244.5 - 7 13652 c.13533C>A c.(13531-13533)ctC>ctA p.L4511L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4511 nucleus p.L4511L(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTGAATGCGGAGGTCAGTGG 0.622000 27 154 1.33986e-20 1.57165e-20 0.099896 1 0 ABCA8 10351 broad.mit.edu 37 17 66937049 66937049 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:66937049G>A ENST00000269080.2 - 3 288 c.151C>T c.(151-153)Cat>Tat p.H51Y ABCA8_ENST00000586539.1_Missense_Mutation_p.H51Y|ABCA8_ENST00000430352.2_Missense_Mutation_p.H51Y NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 51 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.H51Y(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TTTACTTGATGACTATGAGGA 0.323000 3 30 0 0 0.115264 0 0 RARG 5916 broad.mit.edu 37 12 53607445 53607445 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:53607445T>C ENST00000425354.2 - 8 1340 c.853A>G c.(853-855)Acc>Gcc p.T285A RARG_ENST00000338561.5_Missense_Mutation_p.T274A|RARG_ENST00000394426.1_Missense_Mutation_p.T285A|RARG_ENST00000327550.3_Missense_Mutation_p.T213A|RARG_ENST00000543726.1_Missense_Mutation_p.T263A|RARG_ENST00000543762.1_5'UTR NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 285 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.T285A(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) AAGGTCATGGTGTCCTGCTCT 0.597000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 57 0 0 0.115264 0 0 CIC 23152 broad.mit.edu 37 19 42793049 42793049 + Missense_Mutation SNP A A T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:42793049A>T ENST00000572681.2 + 8 3736 c.3668A>T c.(3667-3669)gAg>gTg p.E1223V CIC_ENST00000575354.2_Missense_Mutation_p.E314V|CIC_ENST00000160740.3_Missense_Mutation_p.E314V Q96RK0 CIC_HUMAN capicua transcriptional repressor 314 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.E314V(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GTGTCCTCTGAGCTCCTGTCC 0.557000 """Mis, F, S""" oligodendroglioma 4 44 0 0 0.132662 0 0 CORO2B 10391 broad.mit.edu 37 15 68937670 68937670 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr15:68937670G>A ENST00000543950.1 + 2 526 c.172G>A c.(172-174)Ggc>Agc p.G58S CORO2B_ENST00000540068.1_Missense_Mutation_p.G58S|CORO2B_ENST00000261861.5_Missense_Mutation_p.G58S|CORO2B_ENST00000566799.1_Missense_Mutation_p.G63S NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 63 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding p.G63>?(1)|p.G63S(1) kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CGCAGGGGGCGGCTCCTTCCT 0.622000 4 68 0 0 0.150653 0 0 RIT2 6014 broad.mit.edu 37 18 40323522 40323522 + Missense_Mutation SNP C C G rs77976328 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr18:40323522C>G ENST00000326695.5 - 5 761 c.590G>C c.(589-591)aGa>aCa p.R197T RIT2_ENST00000590910.1_3'UTR|RIT2_ENST00000589109.1_3'UTR NM_002930.2 NP_002921.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 197 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity p.R197T(1)|p.K198fs*>19(1) endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCTGTCTTTTCTCTTCAGTTT 0.413000 23 152 0 0 0.091800 0 0 CCDC36 339834 broad.mit.edu 37 3 49294677 49294677 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:49294677G>A ENST00000438782.1 + 8 1983 c.1747G>A c.(1747-1749)Gac>Aac p.D583N CCDC36_ENST00000296449.5_Missense_Mutation_p.D583N|CCDC36_ENST00000452691.2_Missense_Mutation_p.D583N Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 583 p.D573N(1) endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) TTTGCTCTATGACCTGGGTTT 0.488000 13 118 0 0 0.093190 0 0 ZNF385A 25946 broad.mit.edu 37 12 54765456 54765456 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:54765456C>T ENST00000546970.1 - 6 694 c.405G>A c.(403-405)gaG>gaA p.E135E ZNF385A_ENST00000551109.1_Silent_p.E135E|ZNF385A_ENST00000551771.1_Intron|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000394313.2_Silent_p.E135E|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000338010.5_Silent_p.E155E|ZNF385A_ENST00000352268.6_Intron Q96PM9 Z385A_HUMAN zinc finger protein 385A 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding p.E135E(2)|p.E135D(2)|p.E155E(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1) 15 CAGGCTGTTTCTCTGGGGATC 0.602000 13 63 0 0 0.119110 0 0 EIF3I 8668 broad.mit.edu 37 1 32690056 32690056 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:32690056G>C ENST00000373586.1 + 4 302 c.230G>C c.(229-231)cGt>cCt p.R77P EIF3I_ENST00000471486.1_3'UTR NM_003757.2 NP_003748.1 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, subunit I 77 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity p.R77P(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) AACAGCTGTCGTCTCTGGGAC 0.473000 4 50 0 0 0.014758 0 0 C5orf58 133874 broad.mit.edu 37 5 169661182 169661182 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:169661182G>A ENST00000521850.1 + 1 1732 c.43G>A c.(43-45)Gag>Aag p.E15K C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.E15K C9J3I9 CE058_HUMAN chromosome 5 open reading frame 58 15 p.E15K(1) large_intestine(1)|lung(4)|urinary_tract(1) 6 GGAAAAGGTAGAGGCAAGGAT 0.393000 3 28 0 0 0.115264 0 0 ZEB2 9839 broad.mit.edu 37 2 145147516 145147516 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:145147516G>A ENST00000558170.2 - 10 4331 c.3147C>T c.(3145-3147)caC>caT p.H1049H ZEB2_ENST00000303660.4_Silent_p.H1049H|ZEB2_ENST00000539609.3_Silent_p.H1025H|ZEB2_ENST00000409487.3_Silent_p.H1049H NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1049 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding p.H1049H(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TCTCGCCCGAGTGAAGCCTTG 0.478000 8 49 0 0 0.038147 0 0 BRPF3 27154 broad.mit.edu 37 6 36168658 36168658 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:36168658C>T ENST00000357641.6 + 2 812 c.559C>T c.(559-561)Ctg>Ttg p.L187L BRPF3_ENST00000534400.1_Silent_p.L187L|BRPF3_ENST00000443324.2_Silent_p.L187L|BRPF3_ENST00000543502.1_Silent_p.L187L|BRPF3_ENST00000534694.1_Silent_p.L187L|BRPF3_ENST00000339717.7_Silent_p.L187L NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 187 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding p.L187L(1) breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CTTTGAGCTGCTGGTAGACCG 0.527000 4 55 0 0 0.014758 0 0 FAM83F 113828 broad.mit.edu 37 22 40415261 40415261 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:40415261C>T ENST00000333407.6 + 2 673 c.579C>T c.(577-579)taC>taT p.Y193Y FAM83F_ENST00000473717.1_Silent_p.Y25Y NM_138435.2 NP_612444.2 Q8NEG4 FA83F_HUMAN family with sequence similarity 83, member F p.Y193Y(1) breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2) 14 TCCCAGTGTACATCATCCTGG 0.542000 12 50 0 0 0.132662 0 0 ARCN1 372 broad.mit.edu 37 11 118452000 118452000 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:118452000G>A ENST00000359415.4 + 3 331 c.166G>A c.(166-168)Gct>Act p.A56T ARCN1_ENST00000264028.4_Missense_Mutation_p.A15T|ARCN1_ENST00000534182.2_Missense_Mutation_p.A15T|ARCN1_ENST00000392859.3_Intron P48444 COPD_HUMAN archain 1 15 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol p.A15T(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) AGCAGGAAAGGCTATTGTTTC 0.428000 12 109 0 0 0.119110 0 0 CACNG6 59285 broad.mit.edu 37 19 54502980 54502980 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:54502980G>A ENST00000252729.2 + 3 1089 c.499G>A c.(499-501)Gca>Aca p.A167T CACNG6_ENST00000346968.2_Intron|CACNG6_ENST00000352529.1_Intron NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 167 voltage-gated calcium channel complex voltage-gated calcium channel activity p.A167T(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CAGTAAAGGTGCAGAGTTCCT 0.592000 6 178 0 0 0.021553 0 0 EDA 1896 broad.mit.edu 37 X 68836299 68836299 + Silent SNP C C T rs41539891 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:68836299C>T ENST00000374552.4 + 1 389 c.147C>T c.(145-147)ctC>ctT p.L49L EDA_ENST00000338901.3_Silent_p.L49L|EDA_ENST00000524573.1_Silent_p.L49L|EDA_ENST00000525810.1_Silent_p.L49L|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000527388.1_Silent_p.L49L|EDA_ENST00000374553.2_Silent_p.L49L NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 49 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding p.L49L(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 TCTTTGGCCTCTCGCTGGCCC 0.711000 5 25 0 0 0.021553 0 0 ZNF346 23567 broad.mit.edu 37 5 176468221 176468221 + Silent SNP A A T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:176468221A>T ENST00000503039.1 + 3 349 c.345A>T c.(343-345)gcA>gcT p.A115A ZNF346_ENST00000358149.3_Silent_p.A90A|ZNF346_ENST00000511834.1_Silent_p.A90A|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Silent_p.A90A|ZNF346_ENST00000261948.4_Silent_p.A115A|ZNF346_ENST00000506693.1_Intron Q9UL40 ZN346_HUMAN zinc finger protein 346 90 cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding p.A90A(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 14 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGAAGCTGGCACATTACCAGG 0.458000 12 110 0 0 0.080935 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122459659 122459659 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:122459659C>T ENST00000306103.2 - 8 1143 c.1000G>A c.(1000-1002)Gat>Aat p.D334N HSPBAP1_ENST00000383659.1_3'UTR NM_024610.5 NP_078886.2 Q96EW2 HBAP1_HUMAN HSPB (heat shock 27kDa) associated protein 1 334 cytoplasm p.D334Y(1)|p.D334N(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) CTGCAGCGATCAAAAAATGCA 0.403000 11 131 0 0 0.093190 0 0 TPR 7175 broad.mit.edu 37 1 186330823 186330823 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:186330823C>G ENST00000367478.4 - 9 1185 c.889G>C c.(889-891)Gaa>Caa p.E297Q TPR_ENST00000474852.1_5'UTR NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity p.E298Q(1)|p.E297Q(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CTCTTTGCTTCTGAGTCATCA 0.373000 T NTRK1 papillary thyroid 7 78 0 0 0.038147 0 0 TNFRSF19 55504 broad.mit.edu 37 13 24243107 24243107 + Silent SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr13:24243107T>C ENST00000382263.3 + 9 1300 c.1116T>C c.(1114-1116)gcT>gcC p.A372A TNFRSF19_ENST00000403372.2_Silent_p.A240A|TNFRSF19_ENST00000382258.4_Silent_p.A372A|TNFRSF19_ENST00000248484.4_Silent_p.A372A NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 372 apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity p.A372A(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) TTACAGCAGCTACTGATTTAT 0.428000 3 86 0 0 0.115264 0 0 MICAL2 9645 broad.mit.edu 37 11 12265655 12265655 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:12265655G>A ENST00000256194.4 + 21 3068 c.2780G>A c.(2779-2781)aGa>aAa p.R927K MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.R927K|MICAL2_ENST00000527546.1_Intron NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 927 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.R927K(1) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) TCTCCTGCCAGAAAGGTAGTT 0.502000 14 187 0 0 0.160694 0 0 AMER2 219287 broad.mit.edu 37 13 25744014 25744014 + Missense_Mutation SNP A A T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr13:25744014A>T ENST00000357816.2 - 3 1862 c.1387T>A c.(1387-1389)Tcc>Acc p.S463T AMER2_ENST00000381853.3_Missense_Mutation_p.S463T|AMER2_ENST00000515384.1_Missense_Mutation_p.S582T APC membrane recruitment protein 2 p.S463T(1)|p.S582T(1) TTTAACCGGGACAGGGAGGAC 0.567000 3 70 0 0 0.021553 0 0 EXTL1 2134 broad.mit.edu 37 1 26349162 26349162 + Missense_Mutation SNP T T G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:26349162T>G ENST00000374280.3 + 1 892 c.25T>G c.(25-27)Tcc>Gcc p.S9A NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 9 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding p.S9A(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) GAGAAGAAAGTCCCTGTGGCT 0.667000 4 63 0 0 0.150653 0 0 MOGAT2 80168 broad.mit.edu 37 11 75439097 75439097 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:75439097G>A ENST00000526712.1 + 3 1085 c.312G>A c.(310-312)ggG>ggA p.G104G MOGAT2_ENST00000198801.5_Silent_p.G186G Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 186 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity p.G186G(1) NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) TCATTGTAGGGGGTGCCCAGG 0.562000 3 38 0 0 0.115264 0 0 CELSR1 9620 broad.mit.edu 37 22 46759909 46759909 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:46759909C>T ENST00000262738.3 - 34 9018 c.9019G>A c.(9019-9021)Gat>Aat p.D3007N NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 3007 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity p.D3007N(1) breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCGGAGCCATCGGCCTGGGCG 0.672000 7 14 0 0 0.047766 0 0 SSBP3 23648 broad.mit.edu 37 1 54707879 54707879 + Silent SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:54707879C>A ENST00000371320.3 - 11 1133 c.723G>T c.(721-723)ccG>ccT p.P241P SSBP3_ENST00000371319.3_Silent_p.P214P|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Silent_p.P131P|SSBP3_ENST00000357475.4_Silent_p.P221P NM_145716.2 NP_663768.1 Q9BWW4 SSBP3_HUMAN single stranded DNA binding protein 3 241 Gly-rich.|Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus single-stranded DNA binding p.P241P(1)|p.P214P(1) central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 11 TGCCAGCTCCCGGGCCCCTGA 0.587000 8 166 0.0381472 0.0397188 0.038147 1 0 FAM208B 54906 broad.mit.edu 37 10 5762896 5762896 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:5762896C>G ENST00000328090.5 + 6 734 c.109C>G c.(109-111)Ctt>Gtt p.L37V RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 37 p.L37V(1) TGATATAGCTCTTTGGTCCAC 0.333000 11 71 0 0 0.069234 0 0 GET4 51608 broad.mit.edu 37 7 926266 926266 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr7:926266G>A ENST00000407192.1 + 2 2653 c.136G>A c.(136-138)Gag>Aag p.E46K GET4_ENST00000265857.3_Missense_Mutation_p.E99K Q7L5D6 GET4_HUMAN golgi to ER traffic protein 4 homolog (S. cerevisiae) 99 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding p.E99K(1) breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGCGGAAGTGGAGGTGGCTGA 0.597000 15 67 0 0 0.146539 0 0 MIR4485 100616263 broad.mit.edu 37 MT 2628 2628 + RNA SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrM:2628T>C ENST00000387347.2 + 0 958 NR_039705.1 aatagggacctgtatgaatgg 0.507000 2 1 0 0 0.115264 0 0 AMIGO2 347902 broad.mit.edu 37 12 47472350 47472350 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:47472350G>T ENST00000266581.4 - 2 902 c.436C>A c.(436-438)Ctt>Att p.L146I AMIGO2_ENST00000321382.3_Missense_Mutation_p.L146I|AMIGO2_ENST00000550413.1_Missense_Mutation_p.L146I|AMIGO2_ENST00000429635.1_Missense_Mutation_p.L146I NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 146 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane p.L146I(1) endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) TAAAGCAGAAGCACTTCCAGA 0.408000 8 107 5.18039e-06 5.7606e-06 0.038147 1 0 TMC3 342125 broad.mit.edu 37 15 81625521 81625521 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr15:81625521C>T ENST00000558726.1 - 22 2680 c.2545G>A c.(2545-2547)Gaa>Aaa p.E849K TMC3_ENST00000359440.5_Missense_Mutation_p.E848K|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 848 integral to membrane p.E852K(1) autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TGTACATCTTCGATGTGCGTT 0.527000 9 93 0 0 0.047766 0 0 RUSC2 9853 broad.mit.edu 37 9 35547473 35547473 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr9:35547473G>A ENST00000455600.1 + 2 1524 c.955G>A c.(955-957)Gcc>Acc p.A319T NM_001135999.1 NP_001129471 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 319 cytosol p.A319T(1) NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AGACCCTGGCGCCTTCTATCT 0.567000 7 61 0 0 0.038147 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475832 140475832 + Silent SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:140475832C>G ENST00000194155.4 + 1 1606 c.1458C>G c.(1456-1458)gcC>gcG p.A486A NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 486 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.A486A(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACCAACGCCCAGGTCACCT 0.662000 6 111 0 0 0.093190 0 0 IGSF9B 22997 broad.mit.edu 37 11 133794727 133794727 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:133794727C>T ENST00000321016.8 - 15 2337 c.2107G>A c.(2107-2109)Gtc>Atc p.V703I IGSF9B_ENST00000533871.2_Missense_Mutation_p.V703I Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 703 Fibronectin type-III 2. integral to membrane|plasma membrane p.V159I(1)|p.V703I(1) breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GTGCTGGAGACGCCGGCGATG 0.562000 4 94 0 0 0.014758 0 0 ANXA13 312 broad.mit.edu 37 8 124748098 124748098 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr8:124748098G>A ENST00000262219.6 - 2 102 c.35C>T c.(34-36)tCa>tTa p.S12L ANXA13_ENST00000419625.1_Intron NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 0 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding p.L11fs*51(1)|p.S12L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) ACTGCCTTCTGAGAGGGTGTA 0.517000 4 58 0 0 0.014758 0 0 LAX1 54900 broad.mit.edu 37 1 203743363 203743363 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:203743363G>A ENST00000442561.2 + 5 1141 c.751G>A c.(751-753)Gac>Aac p.D251N LAX1_ENST00000367217.5_Missense_Mutation_p.D235N|LAX1_ENST00000367215.1_3'UTR NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 251 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding p.D251N(1) central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) AGGAGCTGAGGACAGTGATTC 0.488000 5 40 0 0 0.021553 0 0 KIAA0355 9710 broad.mit.edu 37 19 34832940 34832940 + Missense_Mutation SNP C C T rs144261536 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:34832940C>T ENST00000299505.6 + 10 2974 c.2101C>T c.(2101-2103)Cgg>Tgg p.R701W NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 701 p.R701W(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) CCCTCCACCACGGGCACCCCA 0.612000 8 94 0 0 0.047766 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 18 0 0 0.115264 0 0 FRA10AC1 118924 broad.mit.edu 37 10 95454653 95454653 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:95454653G>A ENST00000359204.4 - 5 458 c.261C>T c.(259-261)taC>taT p.Y87Y FRA10AC1_ENST00000536233.1_Silent_p.Y87Y|FRA10AC1_ENST00000394100.2_Silent_p.Y87Y|FRA10AC1_ENST00000371430.2_Silent_p.Y87Y NM_145246.4 NP_660289.2 Q70Z53 F10C1_HUMAN fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 87 nucleus protein binding p.Y87Y(2) NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 TGCCACCATAGTATAAAATAT 0.338000 16 194 0 0 0.146539 0 0 CATSPERD 257062 broad.mit.edu 37 19 5772930 5772930 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:5772930C>A ENST00000381624.3 + 20 1956 c.1895C>A c.(1894-1896)aCc>aAc p.T632N CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 632 integral to membrane p.T632N(1) CAGAACTGGACCACCATGATA 0.567000 3 40 0.00024832 0.000266537 0.150653 1 0 RASGRF2 5924 broad.mit.edu 37 5 80390805 80390805 + Silent SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:80390805C>A ENST00000265080.4 + 12 1816 c.1749C>A c.(1747-1749)atC>atA p.I583I NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 583 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity p.I583I(1) biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TGAGTGACATCAGTCAGGTAA 0.393000 6 37 2.0095e-06 2.25258e-06 0.029380 1 0 PDCD11 22984 broad.mit.edu 37 10 105182763 105182763 + Missense_Mutation SNP C C T rs142899352 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:105182763C>T ENST00000369797.3 + 18 2610 c.2516C>T c.(2515-2517)aCg>aTg p.T839M NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 839 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding p.T839M(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TTGATCCAGACGCTGGCCGAG 0.527000 3 49 0 0 0.150653 0 0 ELP5 23587 broad.mit.edu 37 17 7162203 7162203 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:7162203C>T ENST00000396628.2 + 7 1011 c.794C>T c.(793-795)gCc>gTc p.A265V ELP5_ENST00000574993.1_3'UTR|ELP5_ENST00000356683.2_3'UTR|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Missense_Mutation_p.A265V|ELP5_ENST00000354429.2_Missense_Mutation_p.A265V NM_203414.1 NP_981959.1 elongator acetyltransferase complex subunit 5 p.A265V(1) GAGAGAGAAGCCAGAGATAGC 0.517000 10 55 0 0 0.069234 0 0 SLC12A2 6558 broad.mit.edu 37 5 127484463 127484463 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:127484463C>T ENST00000262461.2 + 12 2088 c.1899C>T c.(1897-1899)aaC>aaT p.N633N SLC12A2_ENST00000343225.4_Silent_p.N633N NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 633 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity p.N633N(1) breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTAAGGACAACATCTACCCAG 0.328000 10 112 0 0 0.058154 0 0 IQCC 55721 broad.mit.edu 37 1 32673403 32673403 + Nonsense_Mutation SNP T T A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:32673403T>A ENST00000537469.1 + 5 1408 c.1361T>A c.(1360-1362)tTg>tAg p.L454* IQCC_ENST00000291358.6_Nonsense_Mutation_p.L374* NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 374 p.L374*(1) endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) ACACAAGAGTTGGGCCTCTCA 0.532000 13 120 0 0 0.105934 0 0 GPLD1 2822 broad.mit.edu 37 6 24472819 24472819 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:24472819G>A ENST00000230036.1 - 7 646 c.536C>T c.(535-537)gCa>gTa p.A179V GPLD1_ENST00000474784.1_5'UTR NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 179 extracellular region glycosylphosphatidylinositol phospholipase D activity p.A179V(1) breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CCAGCGTCGTGCAAGGTAATT 0.338000 9 78 0 0 0.093190 0 0 ZHX3 23051 broad.mit.edu 37 20 39832810 39832810 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr20:39832810G>T ENST00000309060.3 - 4 1162 c.747C>A c.(745-747)aaC>aaA p.N249K ZHX3_ENST00000544979.2_Missense_Mutation_p.N249K|ZHX3_ENST00000540170.1_Missense_Mutation_p.N249K|ZHX3_ENST00000432768.2_Missense_Mutation_p.N249K|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.N249K|ZHX3_ENST00000559234.1_Missense_Mutation_p.N249K|ZHX3_ENST00000557816.1_Intron Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 249 Required for homodimerization and interaction with NFYA. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N249K(1) endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) CGGCATGGGGGTTTTTTGCAG 0.587000 6 68 0.00116845 0.00123041 0.021553 1 0 CUL4B 8450 broad.mit.edu 37 X 119694330 119694330 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:119694330C>T ENST00000371322.5 - 1 225 c.164G>A c.(163-165)aGa>aAa p.R55K CUL4B_ENST00000404115.3_Missense_Mutation_p.R73K|CUL4B_ENST00000336592.6_Missense_Mutation_p.R60K NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 73 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding p.R55K(1)|p.R73K(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AAAGTCTTCTCTCTCGTTAct 0.517000 5 15 0 0 0.014758 0 0 CIT 11113 broad.mit.edu 37 12 120159203 120159203 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:120159203G>A ENST00000392521.2 - 29 3698 c.3643C>T c.(3643-3645)Ctg>Ttg p.L1215L CIT_ENST00000261833.7_Silent_p.L1173L|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1173 Interaction with Rho/Rac. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity p.L1215L(1)|p.L1173L(1)|p.L1216L(1) breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CCTTGAGTCAGACGGAAAATG 0.468000 11 62 0 0 0.080935 0 0 FLT3 2322 broad.mit.edu 37 13 28636122 28636122 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr13:28636122C>G ENST00000380982.4 - 3 331 c.250G>C c.(250-252)Gat>Cat p.D84H FLT3_ENST00000537084.1_Missense_Mutation_p.D84H|FLT3_ENST00000241453.7_Missense_Mutation_p.D84H P36888 FLT3_HUMAN fms-related tyrosine kinase 3 84 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.D84H(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GCAGATACATCCACTTCCACA 0.552000 """Mis, O""" """AML, ALL""" 6 42 0 0 0.029380 0 0 ZNF468 90333 broad.mit.edu 37 19 53352431 53352431 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:53352431G>A ENST00000595646.1 - 3 171 c.51C>T c.(49-51)ttC>ttT p.F17F ZNF468_ENST00000243639.4_Silent_p.F17F|ZNF468_ENST00000396409.4_5'UTR|ZNF468_ENST00000390651.4_5'UTR|ZNF28_ENST00000594602.1_Intron Q5VIY5 ZN468_HUMAN zinc finger protein 468 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F17F(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) CCTCCTGAGAGAATTCTATGG 0.443000 7 158 0 0 0.038147 0 0 DNAH3 55567 broad.mit.edu 37 16 20997001 20997001 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:20997001C>G ENST00000261383.3 - 48 7062 c.7063G>C c.(7063-7065)Gat>Cat p.D2355H DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2355 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.D2355H(2) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATGTTATCATCGACTATCTTT 0.458000 11 108 0 0 0.080935 0 0 HSD17B13 345275 broad.mit.edu 37 4 88239530 88239530 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:88239530T>C ENST00000328546.4 - 2 333 c.269A>G c.(268-270)tAt>tGt p.Y90C HSD17B13_ENST00000302219.6_Intron|RP11-529H2.2_ENST00000508163.1_RNA NM_178135.3 NP_835236.2 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 90 extracellular region binding|oxidoreductase activity p.Y90C(1) endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) GTCTACCACATACGCATGCGC 0.458000 6 62 0 0 0.021553 0 0 SLC26A9 115019 broad.mit.edu 37 1 205902177 205902177 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:205902177C>T ENST00000367135.3 - 3 274 c.161G>A c.(160-162)gGg>gAg p.G54E SLC26A9_ENST00000340781.4_Missense_Mutation_p.G54E|SLC26A9_ENST00000367134.2_Missense_Mutation_p.G54E NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 54 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity p.G54D(2)|p.G54E(2) NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) AGGCAGCAGCCCAAACACCAC 0.547000 7 44 0 0 0.029380 0 0 TM7SF2 7108 broad.mit.edu 37 11 64883439 64883439 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:64883439G>C ENST00000279263.7 + 10 1333 c.1171G>C c.(1171-1173)Gag>Cag p.E391Q TM7SF2_ENST00000540748.1_Missense_Mutation_p.E275Q|TM7SF2_ENST00000345348.5_Missense_Mutation_p.E364Q NM_003273.2 NP_003264.2 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 391 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity p.E391Q(1) lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGCCCGGGATGAGCGGCAGTG 0.622000 4 36 0 0 0.150653 0 0 HCFC1 3054 broad.mit.edu 37 X 153225574 153225574 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chrX:153225574C>T ENST00000310441.7 - 8 2089 c.1123G>A c.(1123-1125)Gcc>Acc p.A375T HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000369984.4_Missense_Mutation_p.A375T|HCFC1_ENST00000354233.3_Missense_Mutation_p.A375T NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 375 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.A375T(1)|p.A276T(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGGTGTTGGCGCGTACCAGT 0.617000 3 11 0 0 0.115264 0 0 NOP14 8602 broad.mit.edu 37 4 2950082 2950082 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:2950082C>G ENST00000416614.2 - 9 1401 c.1336G>C c.(1336-1338)Gag>Cag p.E446Q NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.E446Q|NOP14_ENST00000314262.6_Missense_Mutation_p.E446Q|NOP14_ENST00000398071.4_Missense_Mutation_p.E446Q P78316 NOP14_HUMAN NOP14 nucleolar protein 446 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding p.E446Q(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 AAAAGCTGCTCTTCCATCGAT 0.413000 10 88 0 0 0.058154 0 0 ACTA2 59 broad.mit.edu 37 10 90701132 90701132 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:90701132G>A ENST00000458208.1 - 6 944 c.470C>T c.(469-471)tCt>tTt p.S157F STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.S157F|ACTA2_ENST00000480297.1_5'UTR NM_001141945.1 NP_001135417.1 P62736 ACTA_HUMAN actin, alpha 2, smooth muscle, aorta 157 response to virus cytosol ATP binding p.S157F(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) ACCATCTCCAGAGTCCAGCAC 0.562000 4 50 0 0 0.014758 0 0 GIT1 28964 broad.mit.edu 37 17 27909741 27909741 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:27909741C>T ENST00000225394.3 - 4 628 c.380G>A c.(379-381)gGa>gAa p.G127E GIT1_ENST00000579937.1_Missense_Mutation_p.G127E|GIT1_ENST00000581348.1_Missense_Mutation_p.G127E|GIT1_ENST00000394869.3_Missense_Mutation_p.G127E|RP11-68I3.2_ENST00000581474.1_RNA NM_014030.3 NP_054749.2 Q9Y2X7 GIT1_HUMAN G protein-coupled receptor kinase interacting ArfGAP 1 127 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding p.G127E(2) large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) GGCGGTGACTCCATCATCGTC 0.577000 3 30 0 0 0.115264 0 0 LMO2 4005 broad.mit.edu 37 11 33886306 33886306 + Nonsense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:33886306G>T ENST00000257818.2 - 5 1135 c.306C>A c.(304-306)tgC>tgA p.C102* LMO2_ENST00000395833.3_Nonsense_Mutation_p.C33* NM_005574.3 NP_005565.2 P25791 RBTN2_HUMAN LIM domain only 2 (rhombotin-like 1) 33 LIM zinc-binding 2. multicellular organismal development nucleus protein binding|zinc ion binding p.C33*(1) NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1) 14 TGTTCTGCTGGCAGCCGCCGC 0.627000 T TRD@ T-ALL 6 48 5.9392e-07 6.71178e-07 0.021553 1 0 FAT1 2195 broad.mit.edu 37 4 187541654 187541654 + Nonsense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:187541654G>T ENST00000441802.2 - 10 6295 c.6086C>A c.(6085-6087)tCa>tAa p.S2029* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2029 Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.S2029*(1)|p.S2032*(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CAGAACTCCTGAAGTGCGGCT 0.463000 HNSCC(5;0.00058) 23 219 9.57634e-11 1.1139e-10 0.083992 1 0 GOLGA3 2802 broad.mit.edu 37 12 133374950 133374950 + Silent SNP G G T rs139706790 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:133374950G>T ENST00000204726.3 - 9 2472 c.1914C>A c.(1912-1914)atC>atA p.I638I GOLGA3_ENST00000537452.1_Silent_p.I638I|GOLGA3_ENST00000450791.2_Silent_p.I638I|GOLGA3_ENST00000456883.2_Silent_p.I638I|GOLGA3_ENST00000545875.1_Silent_p.I638I NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 638 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity p.I638I(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTGTGCCGCGATGCGCCCCT 0.587000 7 87 8.12818e-05 8.8962e-05 0.029380 1 0 IL10RB 3588 broad.mit.edu 37 21 34648997 34648997 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr21:34648997G>A ENST00000433395.2 + 5 653 c.653G>A c.(652-654)gGg>gAg p.G218E IL10RB_ENST00000290200.2_Silent_p.R90R p.R90R(1) TGAGAGTCAGGGCTGAATTTG 0.398000 11 148 0 0 0.080935 0 0 COMMD9 29099 broad.mit.edu 37 11 36300153 36300153 + Missense_Mutation SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:36300153A>G ENST00000263401.5 - 3 207 c.191T>C c.(190-192)cTg>cCg p.L64P COMMD9_ENST00000532705.1_Missense_Mutation_p.L64P|COMMD9_ENST00000452374.2_Missense_Mutation_p.L22P NM_014186.3 NP_054905.2 Q9P000 COMD9_HUMAN COMM domain containing 9 64 p.L64P(1) kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 5 all_lung(20;0.211) all_hematologic(20;0.107) GAGGCGGTGCAGAGCCTGGAG 0.572000 9 38 0 0 0.047766 0 0 TSPAN3 10099 broad.mit.edu 37 15 77345133 77345133 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr15:77345133C>A ENST00000267970.4 - 5 844 c.571G>T c.(571-573)Gac>Tac p.D191Y TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000424443.3_Missense_Mutation_p.D127Y|TSPAN3_ENST00000346495.2_Missense_Mutation_p.D166Y|TSPAN3_ENST00000559494.1_Missense_Mutation_p.D102Y|TSPAN3_ENST00000558745.1_5'UTR NM_001168412.1|NM_005724.5|NM_198902.2 NP_001161884.1|NP_005715.1|NP_944492.1 O60637 TSN3_HUMAN tetraspanin 3 191 integral to membrane p.D191Y(1) kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 10 all cancers(203;1.14e-19) GCATAGAGGTCGGAAGGGTGG 0.478000 5 25 3.59834e-05 3.9539e-05 0.021553 1 0 ZNF160 90338 broad.mit.edu 37 19 53573254 53573254 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:53573254T>C ENST00000601421.1 - 3 1301 c.425A>G c.(424-426)aAc>aGc p.N142S ZNF160_ENST00000599056.1_Missense_Mutation_p.N178S|ZNF160_ENST00000429604.1_Missense_Mutation_p.N178S|ZNF160_ENST00000418871.1_Missense_Mutation_p.N178S Q9HCG1 ZN160_HUMAN zinc finger protein 160 178 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.N178S(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) AAGCTGATTGTTCATAAGCTT 0.413000 5 146 0 0 0.021553 0 0 ZNF536 9745 broad.mit.edu 37 19 31039753 31039753 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:31039753C>G ENST00000355537.3 + 4 3374 c.3227C>G c.(3226-3228)tCt>tGt p.S1076C NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1076 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.S1076C(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GACTCTGCTTCTGAGAAGATG 0.552000 8 61 0 0 0.038147 0 0 INPP5F 22876 broad.mit.edu 37 10 121563770 121563770 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:121563770C>T ENST00000361976.2 + 10 1368 c.1202C>T c.(1201-1203)tCa>tTa p.S401L NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 401 SAC. phosphoric ester hydrolase activity p.S401L(1) breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) TTCAACAACTCACACCTCACT 0.418000 10 108 0 0 0.069234 0 0 HK1 3098 broad.mit.edu 37 10 71075755 71075755 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:71075755G>A ENST00000298649.3 + 1 146 c.45G>A c.(43-45)gaG>gaA p.E15E HK1_ENST00000448642.2_Intron|HK1_ENST00000404387.2_Intron|HK1_ENST00000360289.2_Intron NM_033496.2 NP_277031.1 P19367 HXK1_HUMAN hexokinase 1 0 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity p.E15E(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 GAGGTGCTGAGGCCTGGGAGA 0.577000 9 102 0 0 0.047766 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018826 161018826 + Missense_Mutation SNP T T C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:161018826T>C ENST00000368013.3 - 12 2305 c.1985A>G c.(1984-1986)cAg>cGg p.Q662R ARHGAP30_ENST00000368015.1_Missense_Mutation_p.Q485R|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.Q662R NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 662 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.Q662R(2) breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) AGGCTCAGCCTGCTTGTCCTC 0.617000 26 145 0 0 0.099896 0 0 LRP2 4036 broad.mit.edu 37 2 170009322 170009322 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:170009322C>A ENST00000263816.3 - 67 12733 c.12448G>T c.(12448-12450)Gac>Tac p.D4150Y NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4150 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.D4150Y(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CCAACCCAGTCCACTGCTATT 0.478000 13 137 0.00010058 0.000109652 0.093190 1 0 EWSR1 2130 broad.mit.edu 37 22 29695597 29695597 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:29695597C>T ENST00000397938.2 + 16 2006 c.1687C>T c.(1687-1689)Cgt>Tgt p.R563C EWSR1_ENST00000414183.2_Missense_Mutation_p.R568C|EWSR1_ENST00000332035.6_Missense_Mutation_p.R507C|EWSR1_ENST00000406548.1_Missense_Mutation_p.R562C|EWSR1_ENST00000332050.6_Missense_Mutation_p.R490C|EWSR1_ENST00000331029.7_Missense_Mutation_p.R525C NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 563 Arg/Gly/Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding p.R563C(1) EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGGTGGTGATCGTGGCAGAGG 0.607000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 3 33 0 0 0.014758 0 0 PRPF31 26121 broad.mit.edu 37 19 54632681 54632681 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:54632681G>C ENST00000321030.4 + 13 1659 c.1310G>C c.(1309-1311)gGg>gCg p.G437A PRPF31_ENST00000419967.1_Silent_p.R414R|PRPF31_ENST00000391755.1_Missense_Mutation_p.G431A NM_015629.3 NP_056444.3 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 437 assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding p.G437>?(1)|p.G437A(1) breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3) 12 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GTATATGGCGGGAAGTCCACC 0.697000 OREG0003636 type=REGULATORY REGION|Gene=AK091105|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 11 0 0 0.115264 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408514 105408514 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr14:105408514G>A ENST00000333244.5 - 7 13393 c.13274C>T c.(13273-13275)tCt>tTt p.S4425F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4425 nucleus p.S4425F(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCTGGGCAGAGACACGTCCAG 0.622000 14 145 0 0 0.146539 0 0 TRIM71 131405 broad.mit.edu 37 3 32927521 32927521 + Silent SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:32927521G>A ENST00000383763.5 + 3 1179 c.1116G>A c.(1114-1116)aaG>aaA p.K372K NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase multicellular organismal development cytoplasm zinc ion binding p.K372K(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CGAGGCATAAGAAAGCCCTGG 0.617000 5 39 0 0 0.014758 0 0 APOB 338 broad.mit.edu 37 2 21249677 21249677 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:21249677C>T ENST00000233242.1 - 15 2354 c.2227G>A c.(2227-2229)Gat>Aat p.D743N APOB_ENST00000399256.4_Missense_Mutation_p.D743N NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 743 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.D743N(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGTTTATCATCTTTGGTATAG 0.393000 7 93 0 0 0.029380 0 0 ZNF283 284349 broad.mit.edu 37 19 44352249 44352249 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr19:44352249G>C ENST00000324461.7 + 7 1793 c.1496G>C c.(1495-1497)gGg>gCg p.G499A ZNF283_ENST00000588797.1_Missense_Mutation_p.G360A NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G499A(1) endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TTTTGTAGTGGGTATCAACTT 0.408000 20 102 0 0 0.055883 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 28 0 0 0.115264 0 0 DET1 55070 broad.mit.edu 37 15 89074506 89074506 + Missense_Mutation SNP C C A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr15:89074506C>A ENST00000564406.1 - 3 624 c.464G>T c.(463-465)tGt>tTt p.C155F DET1_ENST00000268148.8_Missense_Mutation_p.C144F|DET1_ENST00000444300.1_Missense_Mutation_p.C155F|DET1_ENST00000558413.1_Intron NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 144 nucleus p.C155F(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) GAAGAGACTACACTCCCGGTT 0.537000 5 25 0.000602214 0.000638991 0.014758 1 0 SH3D19 152503 broad.mit.edu 37 4 152065152 152065152 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:152065152C>G ENST00000409598.4 - 12 2460 c.1293G>C c.(1291-1293)gaG>gaC p.E431D SH3D19_ENST00000514152.1_Missense_Mutation_p.E431D|SH3D19_ENST00000304527.4_Missense_Mutation_p.E454D|SH3D19_ENST00000409252.2_Missense_Mutation_p.E454D|SH3D19_ENST00000424281.1_Missense_Mutation_p.E395D|SH3D19_ENST00000455740.1_Missense_Mutation_p.E431D|SH3D19_ENST00000427414.2_Missense_Mutation_p.E395D Q5HYK7 SH319_HUMAN SH3 domain containing 19 454 SH3 1. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding p.E451D(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) CCTTTTGGCACTCCAAGTAAT 0.398000 4 55 0 0 0.150653 0 0 KCNH7 90134 broad.mit.edu 37 2 163236421 163236421 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:163236421C>G ENST00000332142.5 - 14 3172 c.3073G>C c.(3073-3075)Gac>Cac p.D1025H NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 1025 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.D1025H(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TAGGTGAGGTCGCTTTCGGTT 0.517000 12 154 0 0 0.093190 0 0 BRIP1 83990 broad.mit.edu 37 17 59934548 59934548 + Missense_Mutation SNP A A T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:59934548A>T ENST00000259008.2 - 4 517 c.250T>A c.(250-252)Ttg>Atg p.L84M BRIP1_ENST00000577598.1_Missense_Mutation_p.L84M NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 84 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding p.L84M(2) NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 CAACATGACAATTGTACTTCA 0.343000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 13 72 0 0 0.105934 0 0 TRHDE 29953 broad.mit.edu 37 12 73046177 73046177 + Missense_Mutation SNP A A G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr12:73046177A>G ENST00000261180.4 + 16 2712 c.2616A>G c.(2614-2616)atA>atG p.I872M NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 872 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.I872M(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GGGAATTCATATGGATGAAAT 0.398000 6 74 0 0 0.021553 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870547 51870547 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr20:51870547C>T ENST00000371497.5 + 2 1437 c.550C>T c.(550-552)Cgg>Tgg p.R184W TSHZ2_ENST00000329613.6_Missense_Mutation_p.R181W|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R181W NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 184 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R184W(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CTTGCCTTCTCGGTCCGTCTC 0.552000 4 41 0 0 0.150653 0 0 BTN3A3 10384 broad.mit.edu 37 6 26451927 26451927 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:26451927C>T ENST00000244519.2 + 11 1286 c.1043C>T c.(1042-1044)aCg>aTg p.T348M BTN3A3_ENST00000361232.3_Missense_Mutation_p.T299M|BTN3A3_ENST00000339789.4_Missense_Mutation_p.T306M NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 348 B30.2/SPRY. integral to membrane p.T348M(1) cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 GATCCAGACACGGCAAACGCC 0.552000 5 52 0 0 0.021553 0 0 PHC3 80012 broad.mit.edu 37 3 169896709 169896709 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:169896709G>A ENST00000495893.2 - 2 63 c.32C>T c.(31-33)aCa>aTa p.T11I PHC3_ENST00000481639.1_Missense_Mutation_p.T11I|PHC3_ENST00000497658.1_Missense_Mutation_p.T11I|PHC3_ENST00000467570.1_Missense_Mutation_p.T11I|PHC3_ENST00000494943.1_5'UTR|PHC3_ENST00000474275.1_5'UTR NM_024947.3 NP_079223.3 Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) multicellular organismal development PcG protein complex DNA binding|zinc ion binding p.T11I(1) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) ATCCATAGCTGTACTATGGTC 0.413000 12 208 0 0 0.105934 0 0 GAB4 128954 broad.mit.edu 37 22 17447085 17447085 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:17447085G>C ENST00000400588.1 - 6 1300 c.1193C>G c.(1192-1194)tCc>tGc p.S398C NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 398 p.S398C(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) TGTGAGTGGGGAGCCAAGCAG 0.592000 8 57 0 0 0.038147 0 0 HIVEP1 3096 broad.mit.edu 37 6 12125108 12125108 + Nonsense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:12125108C>T ENST00000379388.2 + 4 5412 c.5080C>T c.(5080-5082)Cag>Tag p.Q1694* NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1694 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding p.Q1694*(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AAAAGGTCATCAGAATGCTTT 0.393000 16 93 0 0 0.146539 0 0 TP53 7157 broad.mit.edu 37 17 7577103 7577103 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:7577103C>G ENST00000420246.2 - 8 967 c.835G>C c.(835-837)Ggg>Cgg p.G279R TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.G279R|TP53_ENST00000445888.2_Missense_Mutation_p.G279R|TP53_ENST00000359597.4_Missense_Mutation_p.G279R|TP53_ENST00000455263.2_Missense_Mutation_p.G279R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 279 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G279R(9)|p.0?(8)|p.R280fs*65(7)|p.?(2)|p.G279fs*65(2)|p.G279W(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.P278_G279insXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTCTCTCCCAGGACAGGCA 0.547000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 3 30 0 0 0.115264 0 0 FAM57A 79850 broad.mit.edu 37 17 641131 641131 + Missense_Mutation SNP G G A rs143392294 byFrequency TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:641131G>A ENST00000308278.8 + 3 488 c.252G>A c.(250-252)atG>atA p.M84I FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.M84I NM_024792.1 NP_079068.1 Q8TBR7 FA57A_HUMAN family with sequence similarity 57, member A 84 TLC. integral to membrane|plasma membrane p.M84I(1) cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0217) TTCCATACATGATCTATGACT 0.483000 14 155 0 0 0.119110 0 0 ATPAF2 91647 broad.mit.edu 37 17 17921970 17921970 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:17921970G>A ENST00000474627.3 - 8 917 c.763C>T c.(763-765)Cat>Tat p.H255Y ATPAF2_ENST00000585101.1_Intron|ATPAF2_ENST00000469327.1_5'UTR NM_145691.3 NP_663729.1 Q8N5M1 ATPF2_HUMAN ATP synthase mitochondrial F1 complex assembly factor 2 255 proton-transporting ATP synthase complex assembly mitochondrion|nuclear speck protein binding p.H255Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 8 all_neural(463;0.228) TCATAGTCATGGGCCCACTCA 0.607000 7 114 0 0 0.058154 0 0 DUSP8 1850 broad.mit.edu 37 11 1579411 1579411 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:1579411G>A ENST00000397374.3 - 5 755 c.628C>T c.(628-630)Cgg>Tgg p.R210W DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Missense_Mutation_p.R210W NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 210 Tyrosine-protein phosphatase. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.R210W(1) endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) ATGGGGACCCGCATGAAGCGG 0.582000 4 104 0 0 0.150653 0 0 SCLY 51540 broad.mit.edu 37 2 238999877 238999877 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:238999877G>A ENST00000254663.6 + 8 1069 c.927G>A c.(925-927)atG>atA p.M309I SCLY_ENST00000373332.3_Missense_Mutation_p.M219I|SCLY_ENST00000555827.1_Missense_Mutation_p.M301I|SCLY_ENST00000409736.2_Missense_Mutation_p.M301I|SCLY_ENST00000422984.2_Missense_Mutation_p.M207I|SCLY_ENST00000429612.2_Intron NM_016510.5 NP_057594.4 Q96I15 SCLY_HUMAN selenocysteine lyase 301 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity p.M301I(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) ACACCCCAATGATTGCTGGCC 0.463000 10 111 0 0 0.132662 0 0 CUX1 1523 broad.mit.edu 37 7 101845239 101845239 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr7:101845239C>G ENST00000360264.3 + 18 2715 c.2695C>G c.(2695-2697)Cca>Gca p.P899A CUX1_ENST00000549414.2_Missense_Mutation_p.P866A|CUX1_ENST00000292535.7_Missense_Mutation_p.P888A|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P730A|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P786A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.P832A NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 888 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P888A(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CGCTGAGTCCCCATACTCCCA 0.672000 12 61 0 0 0.105934 0 0 C4orf21 55345 broad.mit.edu 37 4 113468478 113468478 + Missense_Mutation SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr4:113468478C>G ENST00000505019.1 - 24 5686 c.5561G>C c.(5560-5562)gGa>gCa p.G1854A NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 p.G1854A(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TTGTTCCAATCCATTTTCATG 0.373000 3 31 0 0 0.115264 0 0 FMO4 2329 broad.mit.edu 37 1 171303803 171303803 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:171303803G>C ENST00000367749.3 + 8 1411 c.1081G>C c.(1081-1083)Gag>Cag p.E361Q NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 361 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding p.E361Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTTAAACCTAGAGAGAGCGAC 0.403000 10 92 0 0 0.069234 0 0 JMY 133746 broad.mit.edu 37 5 78610358 78610358 + Silent SNP T T G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:78610358T>G ENST00000396137.4 + 9 2805 c.2343T>G c.(2341-2343)ccT>ccG p.P781P JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 781 Pro-rich. 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity p.P427P(1)|p.P781P(1) endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) CTGAACTGCCTCCCACTATAT 0.468000 6 103 0 0 0.038147 0 0 AHNAK2 113146 broad.mit.edu 37 14 105407903 105407903 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr14:105407903G>C ENST00000333244.5 - 7 14004 c.13885C>G c.(13885-13887)Caa>Gaa p.Q4629E AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4629 nucleus p.Q4629E(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTTGGTCCTTGAAACTTACTG 0.512000 5 58 0 0 0.021553 0 0 NTNG1 22854 broad.mit.edu 37 1 107937933 107937933 + Missense_Mutation SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:107937933G>C ENST00000370067.1 + 4 1672 c.1045G>C c.(1045-1047)Ggc>Cgc p.G349R NTNG1_ENST00000370071.2_Missense_Mutation_p.G349R|NTNG1_ENST00000370073.2_Missense_Mutation_p.G349R|NTNG1_ENST00000370072.3_Missense_Mutation_p.G349R|NTNG1_ENST00000370061.3_Missense_Mutation_p.G349R|NTNG1_ENST00000370066.1_Missense_Mutation_p.G349R|NTNG1_ENST00000370068.1_Missense_Mutation_p.G349R|NTNG1_ENST00000370074.4_Missense_Mutation_p.G349R|NTNG1_ENST00000370070.2_Missense_Mutation_p.G349R|NTNG1_ENST00000370065.1_Missense_Mutation_p.G349R|NTNG1_ENST00000542803.1_Missense_Mutation_p.G349R Q9Y2I2 NTNG1_HUMAN netrin G1 349 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding p.G349R(3) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CATCCCCAAAGGCACTGCAAA 0.453000 6 94 0 0 0.029380 0 0 CASP5 838 broad.mit.edu 37 11 104868181 104868181 + Missense_Mutation SNP A A C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr11:104868181A>C ENST00000393141.2 - 8 1205 c.1174T>G c.(1174-1176)Ttc>Gtc p.F392V CASP5_ENST00000526056.1_Missense_Mutation_p.F392V|CASP5_ENST00000531367.1_Missense_Mutation_p.F237V|CASP5_ENST00000418434.1_Missense_Mutation_p.F237V|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000444749.2_Missense_Mutation_p.F321V|CASP5_ENST00000260315.3_Missense_Mutation_p.F379V NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 379 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding p.F392V(1)|p.F363V(1) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TCCGTAATGAAGATGGAGCCC 0.418000 6 39 0 0 0.029380 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62964433 62964433 + RNA SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:62964433C>G ENST00000430983.1 - 0 1659 NR_026903.1 CCATTATCCTCACGACTGTGT 0.438000 11 44 0 0 0.069234 0 0 MAP3K5 4217 broad.mit.edu 37 6 136904781 136904781 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr6:136904781G>A ENST00000359015.4 - 24 3683 c.3323C>T c.(3322-3324)aCc>aTc p.T1108I MAP3K5_ENST00000463140.1_5'UTR|MAP3K5_ENST00000355845.4_Missense_Mutation_p.T355I NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 1108 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding p.T1108I(1) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TGACAGTGTGGTGGCTATGAT 0.463000 8 67 0 0 0.038147 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 38 0 0 0.038147 0 0 LYST 1130 broad.mit.edu 37 1 235972029 235972029 + Nonsense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:235972029G>A ENST00000389794.3 - 5 2263 c.2089C>T c.(2089-2091)Cag>Tag p.Q697* LYST_ENST00000389793.2_Nonsense_Mutation_p.Q697*|LYST_ENST00000536965.1_Nonsense_Mutation_p.Q697* Q99698 LYST_HUMAN lysosomal trafficking regulator 697 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding p.Q697*(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ACAAAGTTCTGATAAGCCTTT 0.368000 6 52 0 0 0.021553 0 0 SLC6A9 6536 broad.mit.edu 37 1 44466560 44466560 + Silent SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr1:44466560C>T ENST00000372306.3 - 11 1642 c.1503G>A c.(1501-1503)ctG>ctA p.L501L SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000360584.2_Intron|SLC6A9_ENST00000357730.2_Intron|SLC6A9_ENST00000372310.3_Intron P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 665 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GGGGGGTCAGCAGACCCGCAG 0.622000 3 35 0 0 0.115264 0 0 CABYR 26256 broad.mit.edu 37 18 21739618 21739618 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr18:21739618G>T ENST00000399496.3 + 5 889 c.724G>T c.(724-726)Gtc>Ttc p.V242F CABYR_ENST00000581397.1_Missense_Mutation_p.V242F|CABYR_ENST00000327201.6_Missense_Mutation_p.V144F|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399481.2_3'UTR|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000399499.1_Missense_Mutation_p.V242F NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 0 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) TCCACCAAAAGTCACTTTTCC 0.498000 4 54 1.024e-07 1.17149e-07 0.014758 1 0 ABCA10 10349 broad.mit.edu 37 17 67189995 67189995 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:67189995G>T ENST00000269081.4 - 14 2390 c.1481C>A c.(1480-1482)gCt>gAt p.A494D ABCA10_ENST00000416101.2_Intron NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 494 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity p.A494D(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TTTTATTTTAGCAAATACCCT 0.328000 9 101 9.70103e-10 1.11904e-09 0.069234 1 0 SLC12A4 6560 broad.mit.edu 37 16 67979985 67979985 + Splice_Site SNP C C G TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:67979985C>G ENST00000422611.2 - 19 2653 c.2614G>C c.(2614-2616)Gtc>Ctc p.V872L SLC12A4_ENST00000537830.2_Splice_Site_p.V864L|SLC12A4_ENST00000316341.3_Splice_Site_p.V870L|SLC12A4_ENST00000572037.1_Splice_Site_p.V822L|SLC12A4_ENST00000541864.2_Splice_Site_p.V839L|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000576616.1_Splice_Site_p.V870L NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 870 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity p.V870L(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) TTCCTCCAGACCTGAGGCAAG 0.592000 3 39 0 0 0.115264 0 0 CAPN13 92291 broad.mit.edu 37 2 30974059 30974059 + Frame_Shift_Del DEL G G - TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:30974059delG ENST00000295055.8 - 11 1322 c.1146delC c.(1144-1146)accfs p.T382fs CAPN13_ENST00000534090.2_Frame_Shift_Del_p.T382fs NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 382 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) CGACAACATTGGTGCCTTCCA 0.468 8 46 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91899626 91899626 + RNA DEL A A - TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr2:91899626delA ENST00000436174.1 - 0 168 CCAGAGGCTCAAAAAAAAAAA 0.289 5 5 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195711343 195711344 + RNA INS - - T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr3:195711343_195711344insT ENST00000427841.1 - 0 585 NR_003264.2 AAAGACTTCTCTGTGAGCTTTG 0.381 3 6 --- --- --- --- CTC-338M12.4 101928649 broad.mit.edu 37 5 180699086 180699087 + RNA INS - - A rs149736603 TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr5:180699086_180699087insA ENST00000511331.1 + 0 918_919 TRIM52-AS1_ENST00000507434.1_RNA CTTTCCATCAGAAAAAAAAAAA 0.406 2 4 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTT rs139112308 by1000genomes TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr16:32077916_32077917insTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 3 6 --- --- --- --- ABCA10 10349 broad.mit.edu 37 17 67183864 67183864 + Frame_Shift_Del DEL C C - TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr17:67183864delC ENST00000269081.4 - 20 3197 c.2288delG c.(2287-2289)cgcfs p.R763fs ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 763 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) CTTTAAGAAGCGAAGTGTTGC 0.378 7 118 --- --- --- --- NFAM1 150372 broad.mit.edu 37 22 42828309 42828310 + Frame_Shift_Ins INS - - T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7df63263-de4e-4ed8-804f-9e8fee3be2d5 12e550de-383e-4ccc-8a4f-106c35bbcc5a g.chr22:42828309_42828310insT ENST00000329021.5 - 1 91_92 c.54_55insA c.(52-57)cctgggfs p.G19fs NM_145912.5 NP_666017.1 Q8NET5 NFAM1_HUMAN NFAT activating protein with ITAM motif 1 19 B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity integral to membrane|intracellular|plasma membrane transmembrane receptor activity large_intestine(1)|lung(3) 4 GCGGGGAGCCCAGGAGGGCGTG 0.663 2 4 --- --- --- ---