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 ASXL2 55252 broad.mit.edu 37 2 25990523 25990523 + Nonsense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:25990523G>C ENST00000435504.4 - 8 997 c.704C>G c.(703-705)tCa>tGa p.S235* ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S207*|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 235 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACTTTAACTGAGGAAGAAAA 0.403000 15 71 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46976980 46976980 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr6:46976980C>G ENST00000371253.2 - 11 2406 c.2191G>C c.(2191-2193)Gat>Cat p.D731H GPR110_ENST00000283297.5_Missense_Mutation_p.D534H|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 731 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CAACACACATCTTTCCTTTTG 0.473000 15 54 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91298064 91298064 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:91298064C>G ENST00000355112.3 + 5 1101 c.983C>G c.(982-984)tCt>tGt p.S328C BLM_ENST00000560509.1_Missense_Mutation_p.S328C NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 328 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CTTGACACCTCTGACAGAAAA 0.353000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 12 36 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726174 53726174 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:53726174C>T ENST00000262135.4 - 4 426 c.333G>A c.(331-333)atG>atA p.M111I RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.M111I|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.M111I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.M111I NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 111 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) GCTGCTCAATCATTTCTTCCA 0.453000 15 154 0 0 1 0 0 C11orf94 143678 broad.mit.edu 37 11 45928134 45928134 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr11:45928134C>T ENST00000449465.1 - 3 319 c.283G>A c.(283-285)Gat>Aat p.D95N NM_001080446.2 NP_001073915.2 C9JXX5 CK094_HUMAN chromosome 11 open reading frame 94 95 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1) 7 AGGTGTGCATCATAGTAATAC 0.632000 16 96 0 0 1 0 0 PAOX 196743 broad.mit.edu 37 10 135195129 135195129 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr10:135195129C>T ENST00000278060.5 + 3 917 c.834C>T c.(832-834)ttC>ttT p.F278F PAOX_ENST00000480071.2_Silent_p.F278F|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.F278F NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 416 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) GAGACCGGTTCCCGGCGCACC 0.612000 12 34 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 22078740 22078740 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr5:22078740C>G ENST00000382254.1 - 5 1132 c.46G>C c.(46-48)Gat>Cat p.D16H CDH12_ENST00000522262.1_Missense_Mutation_p.D16H|CDH12_ENST00000504376.2_Missense_Mutation_p.D16H NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 16 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AGACCTCCATCAAACAGAACC 0.443000 HNSCC(59;0.17) 27 90 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121424663 121424663 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr11:121424663C>T ENST00000260197.7 + 17 2413 c.2284C>T c.(2284-2286)Ctg>Ttg p.L762L NM_003105.5 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 762 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CGAGTTCATTCTGTATGCTGT 0.557000 50 66 0 0 1 0 0 USMG5 84833 broad.mit.edu 37 10 105152162 105152162 + Missense_Mutation SNP T T C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr10:105152162T>C ENST00000369825.1 - 3 535 c.53A>G c.(52-54)tAt>tGt p.Y18C USMG5_ENST00000369815.1_Missense_Mutation_p.Y18C|USMG5_ENST00000309579.3_Missense_Mutation_p.Y18C|USMG5_ENST00000369811.1_Missense_Mutation_p.Y18C|USMG5_ENST00000337003.4_Missense_Mutation_p.Y18C Q96IX5 USMG5_HUMAN up-regulated during skeletal muscle growth 5 homolog (mouse) 18 integral to membrane breast(1) 1 Colorectal(252;0.142) Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197) AGAGTTGAAATATTTTTTAAT 0.294000 17 32 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215960113 215960113 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:215960113C>T ENST00000366943.2 - 52 10672 c.10286G>A c.(10285-10287)aGa>aAa p.R3429K USH2A_ENST00000307340.3_Missense_Mutation_p.R3429K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3429 Fibronectin type-III 19. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTGAGACCCTCTTATCACAGT 0.458000 HNSCC(13;0.011) 10 51 0 0 1 0 0 SENP7 57337 broad.mit.edu 37 3 101049231 101049231 + Splice_Site SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr3:101049231C>G ENST00000394095.2 - 20 2752 c.e20-1 SENP7_ENST00000358203.3_Splice_Site|SENP7_ENST00000394094.2_Splice_Site|SENP7_ENST00000394091.1_Splice_Site|SENP7_ENST00000314261.7_Splice_Site|SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000394085.3_Splice_Site NM_001282802.1|NM_020654.3 NP_001269731.1|NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 proteolysis nucleus cysteine-type peptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AGATCATTATCTAGTTAGAAA 0.323000 7 33 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150023112 150023112 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr6:150023112C>T ENST00000543571.1 - 2 698 c.151G>A c.(151-153)Gag>Aag p.E51K LATS1_ENST00000392273.3_Missense_Mutation_p.E51K|LATS1_ENST00000253339.5_Missense_Mutation_p.E51K NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 51 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) ATGTTATGCTCAGCCTTAGCA 0.423000 55 93 0 0 1 0 0 CNIH4 29097 broad.mit.edu 37 1 224553636 224553636 + Nonsense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:224553636C>G ENST00000465271.1 + 3 269 c.194C>G c.(193-195)tCa>tGa p.S65* CNIH4_ENST00000366858.3_Nonsense_Mutation_p.S65*|CNIH4_ENST00000366856.3_Nonsense_Mutation_p.S65*|CNIH4_ENST00000366857.5_Nonsense_Mutation_p.S65*|CNIH4_ENST00000468318.1_3'UTR NM_014184.3 NP_054903.1 Q9P003 CNIH4_HUMAN cornichon family AMPA receptor auxiliary protein 4 65 intracellular signal transduction endoplasmic reticulum|integral to membrane protein binding kidney(3)|lung(2)|ovary(2) 7 GBM - Glioblastoma multiforme(131;0.00341) CTGCTCATGTCATTGCACTGG 0.388000 31 71 0 0 1 0 0 ZNF496 84838 broad.mit.edu 37 1 247464421 247464421 + Silent SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:247464421G>A ENST00000294753.4 - 9 1628 c.1164C>T c.(1162-1164)tcC>tcT p.S388S ZNF496_ENST00000366498.2_Silent_p.S424S|ZNF496_ENST00000462139.1_5'UTR NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 388 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) TGCTCCGGTGGGAGGCGGGGA 0.632000 9 34 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32729731 32729731 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr13:32729731G>A ENST00000380250.3 + 15 2079 c.1583G>A c.(1582-1584)gGa>gAa p.G528E NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 528 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTTCCTTCAGGAAACACGTTA 0.423000 5 30 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247063713 247063713 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:247063713C>G ENST00000366508.1 - 9 1417 c.1281G>C c.(1279-1281)caG>caC p.Q427H AHCTF1_ENST00000391829.2_Missense_Mutation_p.Q392H|AHCTF1_ENST00000326225.3_Missense_Mutation_p.Q401H Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 392 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AAGGCTTTCCCTGTCCATATA 0.353000 18 46 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87693944 87693944 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr4:87693944C>G ENST00000436978.1 + 32 5677 c.5197C>G c.(5197-5199)Cta>Gta p.L1733V PTPN13_ENST00000427191.2_Missense_Mutation_p.L1709V|PTPN13_ENST00000411767.2_Missense_Mutation_p.L1728V|PTPN13_ENST00000511467.1_Missense_Mutation_p.L1733V|PTPN13_ENST00000316707.6_Missense_Mutation_p.L1537V NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1728 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCCTTCCCCTCTACCACCGGA 0.383000 29 49 0 0 1 0 0 PSG1 5669 broad.mit.edu 37 19 43373185 43373185 + Splice_Site SNP C C T rs4030951 TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr19:43373185C>T ENST00000244296.2 - 4 848 c.711G>A c.(709-711)ccG>ccA p.P237P PSG1_ENST00000312439.6_Splice_Site_p.P237P|PSG1_ENST00000595356.1_Splice_Site_p.P237P|PSG1_ENST00000403380.3_Splice_Site_p.P144P|PSG1_ENST00000595124.1_Splice_Site_p.P144P|PSG1_ENST00000436291.2_Splice_Site_p.P237P NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 p.P237P(3) breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) TGGGCAGCTTCGCTGTGTGGA 0.473000 40 155 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873530 91873530 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chrX:91873530C>T ENST00000373094.1 + 7 4480 c.3635C>T c.(3634-3636)cCa>cTa p.P1212L PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1204L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1175L|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1194L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1202L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1175L NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1212 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CACAGCCCACCACCGATACAG 0.597000 31 31 0 0 1 0 0 FZD9 8326 broad.mit.edu 37 7 72849262 72849262 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr7:72849262G>C ENST00000344575.3 + 1 1154 c.925G>C c.(925-927)Gag>Cag p.E309Q NM_003508.2 NP_003499.1 O00144 FZD9_HUMAN frizzled family receptor 9 309 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) GGAGGGCCTGGAGAACACGGG 0.662000 19 60 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169620364 169620364 + Missense_Mutation SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr6:169620364C>A ENST00000366787.3 - 22 3689 c.3440G>T c.(3439-3441)gGc>gTc p.G1147V THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 1147 TSP C-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CAGCCGCCCGCCAGCGTAGGT 0.458000 58 186 2.69953e-25 2.93428e-25 1 1 0 C1GALT1C1 29071 broad.mit.edu 37 X 119760155 119760155 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chrX:119760155C>G ENST00000304661.5 - 2 1105 c.867G>C c.(865-867)atG>atC p.M289I C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.M289I NM_001011551.2 NP_001011551.1 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 289 integral to membrane p.M289I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 11 CCCCATACATCATCACATGCA 0.423000 25 22 0 0 1 0 0 PCED1A 64773 broad.mit.edu 37 20 2819393 2819393 + Splice_Site SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr20:2819393C>G ENST00000360652.2 - 5 946 c.e5-1 PCED1A_ENST00000356872.3_Splice_Site NM_022760.4 NP_073597.2 PC-esterase domain containing 1A GCGACCATATCTGTTGGATAA 0.582000 68 137 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332607 22332607 + RNA SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:22332607C>G ENST00000558896.1 + 0 414 TTTAGGTCATCTCTCTTTCAT 0.433000 10 128 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151504962 151504962 + Nonsense_Mutation SNP G G T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:151504962G>T ENST00000271636.7 + 14 2789 c.2656G>T c.(2656-2658)Gag>Tag p.E886* NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 880 myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GGCCCGGCGGGAGGTGGCAGA 0.567000 11 24 1.08611e-07 1.12286e-07 1 1 0 AGAP5 729092 broad.mit.edu 37 10 75434515 75434515 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr10:75434515C>T ENST00000443782.2 - 7 1959 c.1834G>A c.(1834-1836)Ggg>Agg p.G612R RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.G635R A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 635 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1) 12 ACCACATTCCCCTTGCGGCAG 0.667000 44 109 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112479054 112479054 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr5:112479054C>T ENST00000302475.4 - 3 738 c.175G>A c.(175-177)Gag>Aag p.E59K MCC_ENST00000408903.3_Missense_Mutation_p.E249K|MCC_ENST00000515367.2_5'UTR|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers 59 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TGGGACTGCTCGCACTGGGAA 0.507000 20 37 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74476234 74476234 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:74476234C>T ENST00000323940.5 - 14 1508 c.1263G>A c.(1261-1263)atG>atA p.M421I STRA6_ENST00000416286.3_Missense_Mutation_p.M413I|STRA6_ENST00000535552.1_Missense_Mutation_p.M458I|STRA6_ENST00000423167.2_Missense_Mutation_p.M412I|STRA6_ENST00000563965.1_Missense_Mutation_p.M460I|STRA6_ENST00000574278.1_Missense_Mutation_p.M436I|STRA6_ENST00000449139.2_Missense_Mutation_p.M421I|STRA6_ENST00000395105.4_Missense_Mutation_p.M421I|STRA6_ENST00000574439.1_5'UTR NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 421 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 CACTGAAGCTCATCCAACAGA 0.617000 33 64 0 0 1 0 0 KLHL25 64410 broad.mit.edu 37 15 86312223 86312223 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:86312223C>G ENST00000337975.5 - 2 1093 c.819G>C c.(817-819)aaG>aaC p.K273N KLHL25_ENST00000536947.1_Missense_Mutation_p.K273N|KLHL25_ENST00000559131.1_Intron NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 273 cytoplasm breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 GGATCCTGGTCTTGCAGCGCA 0.652000 13 24 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209806433 209806433 + Nonsense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:209806433G>A ENST00000391911.1 - 6 999 c.610C>T c.(610-612)Caa>Taa p.Q204* LAMB3_ENST00000356082.4_Nonsense_Mutation_p.Q204*|LAMB3_ENST00000367030.3_Nonsense_Mutation_p.Q204* NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 204 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) TTTTGACTTTGAGTTGCTGGA 0.453000 10 54 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53596472 53596472 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr8:53596472C>G ENST00000025008.5 - 4 696 c.173G>C c.(172-174)aGa>aCa p.R58T RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R58T|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R58T NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 58 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) GGTACACACTCTTCGATCTGC 0.448000 7 42 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39824812 39824812 + Splice_Site SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:39824812G>A ENST00000564288.1 + 47 12897 c.e47-1 MACF1_ENST00000317713.7_Splice_Site|MACF1_ENST00000289893.4_Splice_Site|MACF1_ENST00000476350.1_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000545844.1_Splice_Site|MACF1_ENST00000372915.3_Splice_Site Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGGACAAGCAGCAGTTGCAGG 0.413000 19 105 0 0 1 0 0 TBC1D26 353149 broad.mit.edu 37 17 15638732 15638732 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr17:15638732G>C ENST00000437605.2 + 3 320 c.70G>C c.(70-72)Gag>Cag p.E24Q ZNF286A_ENST00000413242.2_Intron|AC005324.6_ENST00000434017.1_RNA|ZNF286A_ENST00000593105.1_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.E24Q NM_178571.4 NP_848666 Q86UD7 TBC26_HUMAN TBC1 domain family, member 26 24 intracellular Rab GTPase activator activity endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078) TACTAAGTATGAGCAGGTACA 0.577000 15 14 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167805768 167805768 + Missense_Mutation SNP T T G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:167805768T>G ENST00000367848.1 - 23 3309 c.2812A>C c.(2812-2814)Ata>Cta p.I938L ADCY10_ENST00000545172.1_Missense_Mutation_p.I877L|ADCY10_ENST00000367851.4_Missense_Mutation_p.I1030L Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1030 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TTTTCTCTTATTTCTTCAGGA 0.358000 26 34 0 0 1 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100007055 100007055 + Silent SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr7:100007055G>A ENST00000398027.2 - 9 1111 c.864C>T c.(862-864)aaC>aaT p.N288N ZCWPW1_ENST00000324725.6_Silent_p.N168N|ZCWPW1_ENST00000490721.1_Silent_p.N168N|ZCWPW1_ENST00000360951.4_Silent_p.N289N NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 288 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTCTACCTGTGTTCTGATCAC 0.418000 5 33 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112899 59112899 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr14:59112899C>G ENST00000395153.3 + 4 1594 c.1447C>G c.(1447-1449)Ccg>Gcg p.P483A DACT1_ENST00000556859.1_Missense_Mutation_p.P239A|DACT1_ENST00000541264.2_Missense_Mutation_p.P239A|DACT1_ENST00000335867.4_Missense_Mutation_p.P520A NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 520 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GGGCGTCCCCCCGGCCACTCC 0.587000 10 75 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40080468 40080468 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr20:40080468G>A ENST00000373233.3 - 22 3698 c.3521C>T c.(3520-3522)tCa>tTa p.S1174L CHD6_ENST00000309279.7_Missense_Mutation_p.S657L NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1174 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CCTCTCACCTGAGTGGTTCTG 0.532000 31 85 0 0 1 0 0 PDE4A 5141 broad.mit.edu 37 19 10570332 10570332 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr19:10570332C>T ENST00000380702.2 + 11 1196 c.1196C>T c.(1195-1197)aCg>aTg p.T399M PDE4A_ENST00000344979.3_Missense_Mutation_p.T182M|PDE4A_ENST00000293683.5_Missense_Mutation_p.T395M|PDE4A_ENST00000592685.1_Missense_Mutation_p.T399M|PDE4A_ENST00000440014.2_Missense_Mutation_p.T360M|PDE4A_ENST00000352831.6_Missense_Mutation_p.T421M P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 421 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) TACATGCTGACGCTGGAGGAT 0.617000 13 27 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43571899 43571899 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:43571899C>T ENST00000452443.2 - 10 1606 c.1602G>A c.(1600-1602)caG>caA p.Q534Q NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 534 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GCAGCAGGGCCTGTGCACAGA 0.642000 40 57 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49433217 49433217 + Splice_Site SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr12:49433217C>T ENST00000301067.7 - 32 8229 c.e32+1 NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ACTCTACCTACCTGTGTCCCA 0.597000 7 11 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21721900 21721900 + Missense_Mutation SNP C C T rs151087668 TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr12:21721900C>T ENST00000261195.2 - 5 976 c.722G>A c.(721-723)cGg>cAg p.R241Q NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 241 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CATGCAGTACCGGTGGTAAAT 0.433000 24 147 0 0 1 0 0 IRGC 56269 broad.mit.edu 37 19 44223240 44223240 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr19:44223240C>T ENST00000244314.5 + 2 729 c.530C>T c.(529-531)aCg>aTg p.T177M NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 177 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CTGGCGGCCACGCGCACCCAG 0.701000 17 25 0 0 1 0 0 DNAJC10 54431 broad.mit.edu 37 2 183627460 183627460 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:183627460C>G ENST00000264065.7 + 22 2612 c.2197C>G c.(2197-2199)Cag>Gag p.Q733E NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 Thioredoxin 4. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) GGCTTATGCTCAGACATGCCA 0.383000 20 31 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 86114800 86114800 + Missense_Mutation SNP T T C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr3:86114800T>C ENST00000383699.3 + 9 1643 c.1016T>C c.(1015-1017)aTa>aCa p.I339T CADM2_ENST00000407528.2_Missense_Mutation_p.I370T|CADM2_ENST00000405615.2_Missense_Mutation_p.I372T NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 370 Thr-rich. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) CATGCTCTCATAGGAGGAATA 0.403000 6 31 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149216298 149216298 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr5:149216298C>T ENST00000309241.5 + 8 2312 c.2280C>T c.(2278-2280)atC>atT p.I760I PPARGC1B_ENST00000394320.3_Silent_p.I760I|PPARGC1B_ENST00000360453.4_Silent_p.I721I|PPARGC1B_ENST00000403750.1_Silent_p.I696I NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 760 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ACCATGAGATCCGTGCCAGCC 0.617000 45 103 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33576017 33576017 + Missense_Mutation SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr20:33576017C>A ENST00000262873.7 + 17 1757 c.1665C>A c.(1663-1665)ttC>ttA p.F555L NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 513 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) ACTGGGTCTTCATCGACTTCG 0.557000 15 34 6.72482e-11 7.08554e-11 1 1 0 SHF 90525 broad.mit.edu 37 15 45470465 45470465 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:45470465G>C ENST00000290894.8 - 3 837 c.343C>G c.(343-345)Cag>Gag p.Q115E SHF_ENST00000560540.1_Missense_Mutation_p.Q180E|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000458022.2_5'UTR|SHF_ENST00000560734.1_Missense_Mutation_p.Q180E|SHF_ENST00000318390.6_Missense_Mutation_p.Q172E|SHF_ENST00000560471.1_Missense_Mutation_p.Q180E|RP11-519G16.2_ENST00000560034.1_RNA NM_138356.2 NP_612365 B3KTY1 B3KTY1_HUMAN Src homology 2 domain containing F 115 endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2) 12 all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06) CCAGTCTCCTGAACATCAAAC 0.547000 22 33 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32932659 32932659 + Nonsense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr3:32932659C>T ENST00000383763.5 + 4 2026 c.1963C>T c.(1963-1965)Cga>Tga p.R655* NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCAGTTCGACCGACCAGCCGG 0.637000 7 40 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126727602 126727602 + Nonsense_Mutation SNP T T A rs76555439 TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr10:126727602T>A ENST00000337195.5 - 3 421 c.22A>T c.(22-24)Aaa>Taa p.K8* CTBP2_ENST00000476817.1_5'UTR|CTBP2_ENST00000411419.2_Nonsense_Mutation_p.K8*|CTBP2_ENST00000494626.2_Nonsense_Mutation_p.K8*|CTBP2_ENST00000531469.1_Nonsense_Mutation_p.K8* NM_001329.2 NP_001320.1 P56545 CTBP2_HUMAN C-terminal binding protein 2 8 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CTCTTGACTTTGTGCTTATCC 0.453000 7 84 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573032 140573032 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr5:140573032C>G ENST00000239446.4 + 1 1091 c.907C>G c.(907-909)Ctc>Gtc p.L303V NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 303 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAAATCTTTCTCAGAGAATT 0.373000 25 81 0 0 1 0 0 C2orf69 205327 broad.mit.edu 37 2 200790461 200790461 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:200790461G>A ENST00000319974.5 + 2 1193 c.1010G>A c.(1009-1011)cGt>cAt p.R337H C2orf69_ENST00000491721.1_Intron NM_153689.5 NP_710156.3 Q8N8R5 CB069_HUMAN chromosome 2 open reading frame 69 337 extracellular region p.R337H(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1) 11 TACCAAGTACGTGATCCAATG 0.393000 43 31 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33400478 33400478 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr6:33400478G>A ENST00000418600.2 + 5 505 c.404G>A c.(403-405)cGa>cAa p.R135Q SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R76Q|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R135Q|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 135 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTGAGCCGACGGCTAAAA 0.577000 11 15 0 0 1 0 0 SPG20 23111 broad.mit.edu 37 13 36909299 36909299 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr13:36909299C>T ENST00000451493.1 - 2 886 c.669G>A c.(667-669)ttG>ttA p.L223L SPG20_ENST00000494062.2_Silent_p.L223L|SPG20_ENST00000438666.2_Silent_p.L223L|SPG20_ENST00000355182.4_Silent_p.L223L|SPG20_ENST00000495510.1_5'UTR NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 223 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) CATTTGGTATCAAAATCAATT 0.423000 10 38 0 0 1 0 0 IGKV6D-41 28869 broad.mit.edu 37 2 90108550 90108550 + RNA SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:90108550C>T ENST00000390271.2 + 0 47 CGTTGCAATTCCTGCGGCTTC 0.418000 34 41 0 0 1 0 0 EPHX2 2053 broad.mit.edu 37 8 27401985 27401985 + Silent SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr8:27401985C>G ENST00000521400.1 + 19 2044 c.1614C>G c.(1612-1614)ctC>ctG p.L538L EPHX2_ENST00000521780.1_Silent_p.L472L|EPHX2_ENST00000380476.3_Silent_p.L485L|EPHX2_ENST00000518379.1_Silent_p.L506L|EPHX2_ENST00000517536.1_Silent_p.L355L NM_001979.5 NP_001970.2 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 538 Epoxide hydrolase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 27 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) ATCAGATCCTCATTAAGTGGC 0.532000 34 86 0 0 1 0 0 SPATA22 84690 broad.mit.edu 37 17 3343479 3343479 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr17:3343479C>G ENST00000573128.1 - 9 1537 c.1054G>C c.(1054-1056)Gag>Cag p.E352Q SPATA22_ENST00000541913.1_Missense_Mutation_p.E336Q|SPATA22_ENST00000397168.3_Missense_Mutation_p.E352Q|SPATA22_ENST00000572969.1_Missense_Mutation_p.E352Q|SPATA22_ENST00000575375.1_Missense_Mutation_p.E352Q|SPATA22_ENST00000355380.4_Missense_Mutation_p.E309Q Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 352 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 TACTGCATCTCAACATCTGCA 0.323000 29 32 0 0 1 0 0 PRKD3 23683 broad.mit.edu 37 2 37486731 37486731 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:37486731G>A ENST00000379066.1 - 16 2902 c.2140C>T c.(2140-2142)Cct>Tct p.P714S PRKD3_ENST00000234179.2_Missense_Mutation_p.P714S O94806 KPCD3_HUMAN protein kinase D3 714 Protein kinase. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) CTCACCTGAGGAAATGGCTCT 0.368000 3 38 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71654188 71654188 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:71654188C>G ENST00000409544.1 + 24 5819 c.5189C>G c.(5188-5190)cCt>cGt p.P1730R ZNF638_ENST00000264447.4_Missense_Mutation_p.P1730R|ZNF638_ENST00000409407.1_Missense_Mutation_p.P670R|ZNF638_ENST00000355812.3_3'UTR NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1730 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 CCCGAAGACCCTTCTACTTTA 0.398000 54 79 0 0 1 0 0 CYP20A1 57404 broad.mit.edu 37 2 204131392 204131392 + Silent SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:204131392G>A ENST00000356079.4 + 5 711 c.588G>A c.(586-588)aaG>aaA p.K196K CYP20A1_ENST00000429815.2_Silent_p.K196K|CYP20A1_ENST00000461371.1_3'UTR NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 196 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 GCTTCCAGAAGAATCATGGCA 0.463000 63 50 0 0 1 0 0 ASB11 140456 broad.mit.edu 37 X 15311407 15311407 + Silent SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chrX:15311407G>C ENST00000537676.1 - 4 414 c.342C>G c.(340-342)ctC>ctG p.L114L ASB11_ENST00000344384.4_Silent_p.L114L|ASB11_ENST00000380470.3_Silent_p.L118L|ASB11_ENST00000480796.1_Silent_p.L135L Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11 135 intracellular signal transduction breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) AAGCATTGAAGAGGGGTGTGG 0.532000 46 48 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33399937 33399937 + Splice_Site SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr6:33399937G>A ENST00000418600.2 + 4 396 c.e4-1 SYNGAP1_ENST00000428982.2_Splice_Site|SYNGAP1_ENST00000293748.5_Splice_Site|SYNGAP1_ENST00000496374.1_Splice_Site NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 CTCCCCTCCAGAATACCACTT 0.642000 8 19 0 0 1 0 0 RNF207 388591 broad.mit.edu 37 1 6279381 6279381 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:6279381G>A ENST00000377939.4 + 18 1946 c.1819G>A c.(1819-1821)Gag>Aag p.E607K RNF207_ENST00000483336.1_3'UTR|RNF207_ENST00000377948.2_3'UTR NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 607 intracellular zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2) 16 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) CCTCTCAGAAGAGCCTCTACT 0.502000 6 13 0 0 1 0 0 IARS2 55699 broad.mit.edu 37 1 220311374 220311374 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:220311374G>A ENST00000366922.1 + 17 2279 c.1948G>A c.(1948-1950)Gat>Aat p.D650N IARS2_ENST00000302637.5_Missense_Mutation_p.D722N Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 722 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) TGCCAGAGATGATATTAGCAA 0.408000 26 61 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135721446 135721446 + Missense_Mutation SNP T T C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr3:135721446T>C ENST00000264977.3 + 2 1723 c.1106T>C c.(1105-1107)aTt>aCt p.I369T PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 369 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GTACAATCCATTCCAAACAAC 0.388000 23 46 0 0 1 0 0 PGPEP1 54858 broad.mit.edu 37 19 18474200 18474200 + Splice_Site SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr19:18474200G>C ENST00000269919.6 + 5 532 c.e5-1 PGPEP1_ENST00000252813.5_Splice_Site|PGPEP1_ENST00000604499.2_Intron|PGPEP1_ENST00000597431.2_Splice_Site NM_017712.2 NP_060182.1 Q9NXJ5 PGPI_HUMAN pyroglutamyl-peptidase I cysteine-type peptidase activity CTGCGGCTTAGATATCTCTGC 0.572000 10 23 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209805953 209805953 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:209805953G>A ENST00000391911.1 - 7 1186 c.797C>T c.(796-798)tCt>tTt p.S266F LAMB3_ENST00000356082.4_Missense_Mutation_p.S266F|LAMB3_ENST00000367030.3_Missense_Mutation_p.S266F NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 266 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGGGCCTGCAGAGGCCCCAGG 0.652000 14 56 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56407404 56407404 + Silent SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr19:56407404C>G ENST00000588751.1 - 11 3063 c.3039G>C c.(3037-3039)ctG>ctC p.L1013L NLRP13_ENST00000342929.3_Silent_p.L1013L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 1013 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CTAGAAGGTTCAGATTGACCA 0.488000 42 102 0 0 1 0 0 PPM1E 22843 broad.mit.edu 37 17 57047020 57047020 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr17:57047020C>T ENST00000308249.2 + 4 1033 c.904C>T c.(904-906)Cct>Tct p.P302S NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 311 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) CCCCCATGATCCTGCTGAGGC 0.537000 27 26 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7107013 7107013 + Silent SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr17:7107013G>A ENST00000399510.2 - 7 1314 c.462C>T c.(460-462)ctC>ctT p.L154L DLG4_ENST00000485100.1_Silent_p.L108L|DLG4_ENST00000302955.6_Silent_p.L108L|DLG4_ENST00000399506.2_Silent_p.L111L NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 111 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 CTCCCCACCTGAGGCGGCCAT 0.627000 27 37 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57976638 57976638 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:57976638G>C ENST00000574161.1 + 13 1462 c.1343G>C c.(1342-1344)aGg>aCg p.R448T GCOM1_ENST00000380560.2_Missense_Mutation_p.R379T|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000572390.1_Missense_Mutation_p.R420T|MYZAP_ENST00000380565.4_Missense_Mutation_p.R420T|GCOM1_ENST00000396180.1_Missense_Mutation_p.R417T|MYZAP_ENST00000267853.5_Missense_Mutation_p.R448T|GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_Intron NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 448 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 ATGCCTTCTAGGAACTACACC 0.428000 22 128 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155734850 155734850 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:155734850C>T ENST00000437809.1 - 21 4536 c.4414G>A c.(4414-4416)Gag>Aag p.E1472K GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.E1472K|GON4L_ENST00000271883.5_Missense_Mutation_p.E1472K|GON4L_ENST00000368331.1_Missense_Mutation_p.E1472K NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1472 Glu-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TCATCTTCCTCATCTTGGGTG 0.488000 19 35 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22828057 22828057 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:22828057G>A ENST00000404138.1 + 5 1415 c.904G>A c.(904-906)Gaa>Aaa p.E302K ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000375647.4_Missense_Mutation_p.E302K NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 302 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) AGTAAGAGAGGAAAGCCTGGA 0.418000 21 40 0 0 1 0 0 KLHDC3 116138 broad.mit.edu 37 6 42986276 42986276 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr6:42986276C>T ENST00000326974.4 + 6 910 c.715C>T c.(715-717)Cgc>Tgc p.R239C KLHDC3_ENST00000244670.8_Missense_Mutation_p.R105C|KLHDC3_ENST00000332245.8_Missense_Mutation_p.R180C NM_057161.3 NP_476502.1 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 239 reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GCCTGAGGGGCGCCGGAGCCA 0.562000 47 114 0 0 1 0 0 ESR2 2100 broad.mit.edu 37 14 64694316 64694316 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr14:64694316G>C ENST00000554572.1 - 14 2696 c.1423C>G c.(1423-1425)Caa>Gaa p.Q475E ESR2_ENST00000353772.3_Missense_Mutation_p.Q475E|ESR2_ENST00000555278.1_3'UTR|ESR2_ENST00000358599.5_Missense_Mutation_p.Q475E|ESR2_ENST00000542956.1_Intron Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 474 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) GTGAGTGTTTGAGAGGCCTTT 0.438000 33 130 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69168268 69168268 + Missense_Mutation SNP T T C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr3:69168268T>C ENST00000420581.2 - 2 1417 c.1238A>G c.(1237-1239)cAg>cGg p.Q413R LMOD3_ENST00000489031.1_Missense_Mutation_p.Q413R|LMOD3_ENST00000475434.1_Missense_Mutation_p.Q413R NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 413 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) CAGCTTCTTCTGTTCCTTGAG 0.517000 25 53 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70513761 70513761 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr10:70513761G>A ENST00000265872.6 + 11 1390 c.1271G>A c.(1270-1272)aGa>aAa p.R424K CCAR1_ENST00000543719.1_Missense_Mutation_p.R409K|CCAR1_ENST00000535016.1_Missense_Mutation_p.R409K NM_001282959.1|NM_001282960.1|NM_018237.2 NP_001269888.1|NP_001269889.1|NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 424 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 GTAATGCACAGAGAAGTAGAG 0.393000 19 87 0 0 1 0 0 SLC15A3 51296 broad.mit.edu 37 11 60706999 60706999 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr11:60706999G>C ENST00000227880.3 - 6 1621 c.1388C>G c.(1387-1389)cCt>cGt p.P463R NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 463 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 CAGGTACTGAGGGATCTGCCA 0.592000 9 20 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25978892 25978892 + Nonsense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:25978892G>C ENST00000435504.4 - 10 1324 c.1031C>G c.(1030-1032)tCa>tGa p.S344* ASXL2_ENST00000404843.1_Nonsense_Mutation_p.S84*|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S316*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.S84* Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 344 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTACCTTCTGAGAGTCTTTC 0.463000 23 36 0 0 1 0 0 CALML6 163688 broad.mit.edu 37 1 1848287 1848287 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:1848287G>A ENST00000307786.3 + 4 804 c.350G>A c.(349-351)cGt>cAt p.R117H CALML6_ENST00000462293.1_3'UTR NM_138705.2 NP_619650.2 Q8TD86 CALL6_HUMAN calmodulin-like 6 117 EF-hand 3. cytoplasm|nucleus calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GCGGCATTCCGTGTCTTTGAC 0.597000 31 40 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188478034 188478034 + Silent SNP T T A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr3:188478034T>A ENST00000312675.4 + 8 1620 c.1374T>A c.(1372-1374)gcT>gcA p.A458A LPP_ENST00000543006.1_Silent_p.A458A NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 458 LIM zinc-binding 1. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CATTCTATGCTGTGGAAAAGA 0.483000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 32 49 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222713431 222713431 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:222713431C>G ENST00000343410.6 - 4 1429 c.1371G>C c.(1369-1371)ttG>ttC p.L457F NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 457 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TTCCACCTTTCAAAATGAGGT 0.522000 18 97 0 0 1 0 0 IRX1 79192 broad.mit.edu 37 5 3600220 3600220 + Silent SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr5:3600220C>G ENST00000302006.3 + 2 1210 c.1158C>G c.(1156-1158)ctC>ctG p.L386L CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 386 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GCTCCCTGCTCAACATGCGCT 0.662000 7 28 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61958123 61958123 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr10:61958123C>G ENST00000280772.2 - 14 1855 c.1664G>C c.(1663-1665)gGa>gCa p.G555A ANK3_ENST00000503366.1_Missense_Mutation_p.G538A|ANK3_ENST00000373827.2_Missense_Mutation_p.G549A NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TAAAGACGCTCCATGATCCAA 0.502000 21 33 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577079 7577079 + Nonsense_Mutation SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr17:7577079C>A ENST00000420246.2 - 8 991 c.859G>T c.(859-861)Gag>Tag p.E287* TP53_ENST00000269305.4_Nonsense_Mutation_p.E287*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E287*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E287*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E287* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 287 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (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.N288fs*13(17)|p.E287*(13)|p.0?(8)|p.E287K(6)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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) CGGAGATTCTCTTCCTCTGTG 0.567000 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) 14 18 9.31168e-06 9.48412e-06 1 1 0 ANKRD11 29123 broad.mit.edu 37 16 89348528 89348528 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:89348528C>G ENST00000301030.4 - 9 4882 c.4422G>C c.(4420-4422)gaG>gaC p.E1474D ANKRD11_ENST00000378330.2_Missense_Mutation_p.E1474D NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1474 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CCCGGTGCctctccttctcgt 0.547000 4 35 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43934636 43934636 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:43934636G>C ENST00000282406.4 + 11 2028 c.1918G>C c.(1918-1920)Gac>Cac p.D640H NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 640 Ser-rich. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GTCAGAGTCAGACTCACGCAG 0.527000 11 47 0 0 1 0 0 CROT 54677 broad.mit.edu 37 7 87004968 87004968 + Missense_Mutation SNP A A G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr7:87004968A>G ENST00000331536.3 + 8 862 c.677A>G c.(676-678)aAg>aGg p.K226R CROT_ENST00000419147.2_Missense_Mutation_p.K254R|CROT_ENST00000442291.1_Missense_Mutation_p.K226R NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 226 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TATATCCACAAGAAGTGCCAT 0.388000 11 32 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151504886 151504886 + Missense_Mutation SNP G G T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:151504886G>T ENST00000271636.7 + 14 2713 c.2580G>T c.(2578-2580)aaG>aaT p.K860N NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 854 myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AGTTGGAGAAGATCGGGGAGG 0.577000 29 48 9.65021e-13 1.02069e-12 1 1 0 NT5DC2 64943 broad.mit.edu 37 3 52563270 52563270 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr3:52563270C>T ENST00000307076.4 - 2 602 c.202G>A c.(202-204)Gag>Aag p.E68K NT5DC2_ENST00000490681.1_5'UTR|NT5DC2_ENST00000459839.1_Missense_Mutation_p.E105K|NT5DC2_ENST00000422318.2_Missense_Mutation_p.E105K|NT5DC2_ENST00000307092.4_Missense_Mutation_p.E34K NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 68 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) CCGTAGACCTCAACGTCACGC 0.587000 12 31 0 0 1 0 0 SLC34A3 142680 broad.mit.edu 37 9 140127053 140127053 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr9:140127053C>T ENST00000538474.1 + 4 426 c.202C>T c.(202-204)Cgc>Tgc p.R68C SLC34A3_ENST00000361134.2_Missense_Mutation_p.R68C NM_001177316.1|NM_001177317.1 NP_001170787|NP_001170788 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 68 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CAGGCTGCGCCGCGTGGCCGG 0.692000 34 28 0 0 1 0 0 PSPH 5723 broad.mit.edu 37 7 56085003 56085003 + Silent SNP A A G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr7:56085003A>G ENST00000395471.3 - 6 1150 c.345T>C c.(343-345)atT>atC p.I115I PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Silent_p.I115I P78330 SERB_HUMAN phosphoserine phosphatase 115 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CATGCTCTACAATACTCCTAA 0.388000 5 40 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151505004 151505004 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:151505004G>A ENST00000271636.7 + 14 2831 c.2698G>A c.(2698-2700)Gag>Aag p.E900K NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 894 myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TTGGGCCAGTGAGGCTGAGAA 0.542000 7 12 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151711785 151711785 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr7:151711785C>G ENST00000392800.2 + 8 1337 c.1083C>G c.(1081-1083)atC>atG p.I361M GALNTL5_ENST00000431418.2_Missense_Mutation_p.I361M NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 361 Catalytic subdomain B. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TAGGACATATCAGTAAGAAAC 0.408000 20 80 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33583163 33583163 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr20:33583163G>C ENST00000262873.7 + 26 2943 c.2851G>C c.(2851-2853)Gag>Cag p.E951Q NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 909 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GGCAGATGCCGAGGAGCGCTG 0.637000 6 23 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126727604 126727604 + Missense_Mutation SNP T T C rs78849795 TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr10:126727604T>C ENST00000337195.5 - 3 419 c.20A>G c.(19-21)cAc>cGc p.H7R CTBP2_ENST00000476817.1_5'UTR|CTBP2_ENST00000411419.2_Missense_Mutation_p.H7R|CTBP2_ENST00000494626.2_Missense_Mutation_p.H7R|CTBP2_ENST00000531469.1_Missense_Mutation_p.H7R NM_001329.2 NP_001320.1 P56545 CTBP2_HUMAN C-terminal binding protein 2 7 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CTTGACTTTGTGCTTATCCAC 0.453000 7 83 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726156 53726156 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:53726156C>G ENST00000262135.4 - 4 444 c.351G>C c.(349-351)gaG>gaC p.E117D RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E117D|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E117D|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E117D NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 117 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) CATGAACTTTCTCTTGCAGCT 0.453000 33 146 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7981335 7981335 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr11:7981335C>G ENST00000328600.2 - 2 1985 c.1824G>C c.(1822-1824)ttG>ttC p.L608F NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 608 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTCCATGACTCAAGCTGCTTT 0.373000 5 36 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154574977 154574977 + Silent SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:154574977G>C ENST00000368474.4 - 2 340 c.141C>G c.(139-141)ctC>ctG p.L47L ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.L90L|ADAR_ENST00000471068.1_5'UTR NM_001111.4|NM_015840.3|NM_015841.3 NP_001102|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 47 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) GCTGCCCCTTGAGAAATTCTA 0.547000 16 18 0 0 1 0 0 RNF207 388591 broad.mit.edu 37 1 6279392 6279392 + Silent SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:6279392G>A ENST00000377939.4 + 18 1957 c.1830G>A c.(1828-1830)ctG>ctA p.L610L RNF207_ENST00000483336.1_3'UTR|RNF207_ENST00000377948.2_3'UTR NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 610 intracellular zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2) 16 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) AGCCTCTACTGAAAAATATGG 0.507000 8 10 0 0 1 0 0 EEFSEC 60678 broad.mit.edu 37 3 128127101 128127101 + Nonstop_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr3:128127101G>C ENST00000254730.6 + 7 1844 c.1790G>C c.(1789-1791)tGa>tCa p.*597S EEFSEC_ENST00000483457.1_3'UTR NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 0 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 CAGTCTCCCTGAGTGTCCGGT 0.632000 16 62 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53720413 53720413 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:53720413C>T ENST00000262135.4 - 6 801 c.708G>A c.(706-708)ttG>ttA p.L236L RPGRIP1L_ENST00000379925.3_Silent_p.L236L|RPGRIP1L_ENST00000564374.1_Silent_p.L236L|RPGRIP1L_ENST00000563746.1_Silent_p.L236L NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 236 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) CTTTTCTCCTCAACTGAGTTT 0.373000 24 49 0 0 1 0 0 AARS2 57505 broad.mit.edu 37 6 44279886 44279886 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr6:44279886C>G ENST00000244571.4 - 2 360 c.358G>C c.(358-360)Gat>Cat p.D120H RP11-444E17.6_ENST00000505802.1_Intron NM_020745.3 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 120 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CGACCCACATCTTCCAGGTCG 0.522000 45 92 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18322677 18322677 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr19:18322677C>T ENST00000355502.3 - 18 2554 c.1683G>A c.(1681-1683)acG>acA p.T561T PDE4C_ENST00000594617.3_Silent_p.T561T|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594465.3_Silent_p.T561T|PDE4C_ENST00000262805.12_Silent_p.T529T|PDE4C_ENST00000447275.3_Silent_p.T455T|PDE4C_ENST00000598111.2_Silent_p.T276T|PDE4C_ENST00000539010.1_Silent_p.T330T|PDE4C_ENST00000597297.1_Silent_p.T331T Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 561 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) TGATGCGGTCCGTCCACTGGC 0.617000 31 59 0 0 1 0 0 AASDH 132949 broad.mit.edu 37 4 57237723 57237723 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr4:57237723G>A ENST00000205214.6 - 5 935 c.755C>T c.(754-756)gCt>gTt p.A252V AASDH_ENST00000513376.1_Missense_Mutation_p.A152V|AASDH_ENST00000502617.1_Missense_Mutation_p.A252V|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000451613.1_Missense_Mutation_p.A252V|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000602986.1_Missense_Mutation_p.A99V NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 252 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) ACTTGATAGAGCAAGAAATAT 0.423000 10 31 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726022 53726022 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:53726022C>G ENST00000262135.4 - 4 578 c.485G>C c.(484-486)aGa>aCa p.R162T RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R162T|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R162T|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R162T NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 162 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) ATTTGCTTTTCTACGCCCAGT 0.373000 75 107 0 0 1 0 0 KIF9 64147 broad.mit.edu 37 3 47278068 47278068 + Nonsense_Mutation SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr3:47278068C>A ENST00000335044.2 - 18 2323 c.1966G>T c.(1966-1968)Gaa>Taa p.E656* KIF9_ENST00000444589.2_Nonsense_Mutation_p.E591*|KIF9_ENST00000452770.2_Nonsense_Mutation_p.E656*|KIF9_ENST00000352910.4_Nonsense_Mutation_p.E498*|KIF9_ENST00000265529.3_Nonsense_Mutation_p.E656*|KIF9-AS1_ENST00000429315.3_RNA NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 656 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.E656*(1) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AGCAGGAATTCTTCCTCATCG 0.522000 18 40 1.67942e-08 1.74279e-08 1 1 0 AKAP6 9472 broad.mit.edu 37 14 33292516 33292516 + Missense_Mutation SNP A A T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr14:33292516A>T ENST00000280979.4 + 13 5667 c.5497A>T c.(5497-5499)Agc>Tgc p.S1833C AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1833 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AGATATAAGTAGCAGTGAGAT 0.378000 29 34 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42877738 42877738 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr13:42877738C>G ENST00000025301.2 + 8 5031 c.4856C>G c.(4855-4857)tCt>tGt p.S1619C NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1619 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AAGCCAGCTTCTAATCCAAAA 0.423000 26 89 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135302353 135302353 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr7:135302353C>T ENST00000285968.6 + 27 3720 c.3694C>T c.(3694-3696)Ctt>Ttt p.L1232F NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1232 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TATCCAGCTTCTTCATAGGGT 0.403000 18 42 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169586336 169586336 + Missense_Mutation SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:169586336C>A ENST00000263686.6 - 3 448 c.411G>T c.(409-411)aaG>aaT p.K137N SELP_ENST00000367792.2_Missense_Mutation_p.K137N|SELP_ENST00000367793.2_Missense_Mutation_p.K137N|SELP_ENST00000367786.2_Missense_Mutation_p.K137N|SELP_ENST00000367791.2_Missense_Mutation_p.K137N|SELP_ENST00000367788.2_Missense_Mutation_p.K137N|SELP_ENST00000458599.2_Missense_Mutation_p.K137N|SELP_ENST00000367794.2_Missense_Mutation_p.K137N NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 137 C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CTGACGGACTCTTGATGTATA 0.473000 21 152 2.27731e-05 2.31092e-05 1 1 0 MINPP1 9562 broad.mit.edu 37 10 89280833 89280833 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr10:89280833G>C ENST00000371996.4 + 4 1015 c.974G>C c.(973-975)aGa>aCa p.R325T MINPP1_ENST00000536010.1_Missense_Mutation_p.R124T|MINPP1_ENST00000371994.4_Intron NM_004897.4 NP_004888.2 Q9UNW1 MINP1_HUMAN multiple inositol-polyphosphate phosphatase 1 325 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2) 5 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) TATTGGAAAAGAGGATATGGG 0.294000 13 68 0 0 1 0 0 SLC34A3 142680 broad.mit.edu 37 9 140129072 140129072 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr9:140129072C>T ENST00000538474.1 + 12 1448 c.1224C>T c.(1222-1224)atC>atT p.I408I SLC34A3_ENST00000361134.2_Silent_p.I408I NM_001177316.1|NM_001177317.1 NP_001170787|NP_001170788 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 408 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TCGGGGTGATCAGTCTGGACC 0.682000 7 19 0 0 1 0 0 MSTO1 55154 broad.mit.edu 37 1 155582297 155582297 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:155582297C>T ENST00000245564.2 + 9 926 c.902C>T c.(901-903)tCc>tTc p.S301F MSTO1_ENST00000368341.4_Missense_Mutation_p.S266F|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000483734.1_3'UTR NM_001256532.1|NM_001256533.1|NM_018116.3 NP_001243461.1|NP_001243462.1|NP_060586.2 Q9BUK6 MSTO1_HUMAN misato 1, mitochondrial distribution and morphology regulator 301 mitochondrion distribution|protein polymerization mitochondrial outer membrane|protein complex breast(2)|endometrium(1)|lung(3)|skin(1) 7 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) TGCCCCTTGTCCTTGGGTGGG 0.547000 22 80 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36682784 36682784 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr22:36682784C>T ENST00000216181.5 - 35 5271 c.5041G>A c.(5041-5043)Gag>Aag p.E1681K NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1681 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TGGATCATCTCGGCCTCCATG 0.637000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated OREG0026519 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 98 67 0 0 1 0 0 ACTR1B 10120 broad.mit.edu 37 2 98275406 98275406 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:98275406C>T ENST00000289228.5 - 5 592 c.376G>A c.(376-378)Gag>Aag p.E126K NM_005735.3 NP_005726.1 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, centractin beta (yeast) 126 centrosome|dynactin complex ATP binding|protein binding p.E126K(1) endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15 AAGAACACCTCTGCCGCCTTC 0.607000 83 113 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56171957 56171957 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr19:56171957C>T ENST00000450554.2 + 4 1265 c.306C>T c.(304-306)atC>atT p.I102I U2AF2_ENST00000308924.4_Silent_p.I102I NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 102 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TTGAGCACATCACCCCAATGC 0.622000 8 20 0 0 1 0 0 FMNL3 91010 broad.mit.edu 37 12 50048043 50048043 + Nonsense_Mutation SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr12:50048043C>A ENST00000335154.5 - 11 1236 c.1003G>T c.(1003-1005)Gag>Tag p.E335* FMNL3_ENST00000352151.5_Nonsense_Mutation_p.E284*|FMNL3_ENST00000293590.5_Nonsense_Mutation_p.E335*|FMNL3_ENST00000550488.1_Nonsense_Mutation_p.E335* NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 335 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 TTCATGTCCTCCACCGAGTGC 0.562000 28 23 1.13719e-10 1.19362e-10 1 1 0 RASAL2 9462 broad.mit.edu 37 1 178427370 178427370 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:178427370G>C ENST00000448150.3 + 14 3728 c.2910G>C c.(2908-2910)caG>caC p.Q970H RASAL2_ENST00000462775.1_Missense_Mutation_p.Q840H|RASAL2_ENST00000367649.3_Missense_Mutation_p.Q981H NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 840 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GTAGCACTCAGAGTGAGGACT 0.502000 20 38 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65178495 65178495 + Missense_Mutation SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr18:65178495C>A ENST00000310045.7 - 2 4854 c.3381G>T c.(3379-3381)ttG>ttT p.L1127F CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 1117 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TAGTAGGCAGCAAATCTGTAT 0.393000 3 37 1 1 1 1 0 WNK4 65266 broad.mit.edu 37 17 40947767 40947767 + Silent SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr17:40947767C>G ENST00000246914.5 + 16 3168 c.3147C>G c.(3145-3147)ctC>ctG p.L1049L NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 1049 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CCCCTCAGCTCACTTCAGAGA 0.587000 20 23 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108593979 108593979 + Missense_Mutation SNP A A C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr11:108593979A>C ENST00000526794.1 + 13 1787 c.1755A>C c.(1753-1755)gaA>gaC p.E585D DDX10_ENST00000322536.3_Missense_Mutation_p.E585D Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 585 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) aggaagaagaagaagacgatg 0.423000 T NUP98 AML* 5 18 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726179 53726179 + Nonsense_Mutation SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:53726179C>A ENST00000262135.4 - 4 421 c.328G>T c.(328-330)Gaa>Taa p.E110* RPGRIP1L_ENST00000379925.3_Nonsense_Mutation_p.E110*|RPGRIP1L_ENST00000564374.1_Nonsense_Mutation_p.E110*|RPGRIP1L_ENST00000563746.1_Nonsense_Mutation_p.E110* NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 110 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding p.E110Q(1) endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) TCAATCATTTCTTCCATTTCC 0.448000 14 150 6.00099e-30 6.5487e-30 1 1 0 ASXL2 55252 broad.mit.edu 37 2 25990481 25990481 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:25990481G>A ENST00000435504.4 - 8 1039 c.746C>T c.(745-747)tCa>tTa p.S249L ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.S221L|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCTGGAATGACTTCTTCCC 0.403000 9 46 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53720391 53720391 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:53720391C>T ENST00000262135.4 - 6 823 c.730G>A c.(730-732)Gag>Aag p.E244K RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E244K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E244K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E244K NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 244 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) AGAGATAACTCAATTTCATTT 0.358000 17 43 0 0 1 0 0 CREBRF 153222 broad.mit.edu 37 5 172535678 172535678 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr5:172535678C>T ENST00000540014.1 + 5 1593 c.1274C>T c.(1273-1275)tCa>tTa p.S425L CREBRF_ENST00000296953.2_Missense_Mutation_p.S425L Q8IUR6 CE041_HUMAN CREB3 regulatory factor 425 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TCAATATCTTCACGGAAGAGA 0.393000 14 46 0 0 1 0 0 HIST1H2BJ 8970 broad.mit.edu 37 6 27100190 27100190 + Nonsense_Mutation SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr6:27100190C>A ENST00000607124.1 - 1 339 c.340G>T c.(340-342)Gag>Tag p.E114* HIST1H2BJ_ENST00000541790.1_Nonsense_Mutation_p.E114*|HIST1H2BJ_ENST00000339812.2_Nonsense_Mutation_p.E114* P06899 H2B1J_HUMAN histone cluster 1, H2bj 114 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding p.E114K(1) breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1) 10 TTAGTACCCTCGGACACGGCG 0.577000 46 103 1.00776e-21 1.09107e-21 1 1 0 SLC34A3 142680 broad.mit.edu 37 9 140127042 140127042 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr9:140127042G>A ENST00000538474.1 + 4 415 c.191G>A c.(190-192)gGc>gAc p.G64D SLC34A3_ENST00000361134.2_Missense_Mutation_p.G64D NM_001177316.1|NM_001177317.1 NP_001170787|NP_001170788 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 64 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity p.G64D(1) kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CGCGTGGCCGGCAGGCTGCGC 0.692000 3 52 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152765705 152765705 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr6:152765705C>G ENST00000367255.5 - 30 4279 c.3678G>C c.(3676-3678)aaG>aaC p.K1226N SYNE1_ENST00000367248.3_Missense_Mutation_p.K1216N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1292N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1226N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1233N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K1226N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1226N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1233N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1226 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGCTTAGCATCTTTTCAACCT 0.308000 HNSCC(10;0.0054) 10 11 0 0 1 0 0 PEX6 5190 broad.mit.edu 37 6 42934005 42934005 + Missense_Mutation SNP T T A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr6:42934005T>A ENST00000304611.8 - 11 2344 c.2275A>T c.(2275-2277)Act>Tct p.T759S PEX6_ENST00000244546.4_Intron NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 759 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) CTGCACTCAGTGGCTACTGCC 0.672000 3 33 0 0 1 0 0 KATNA1 11104 broad.mit.edu 37 6 149953980 149953980 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr6:149953980C>G ENST00000367411.2 - 3 493 c.235G>C c.(235-237)Gac>Cac p.D79H KATNA1_ENST00000335643.8_Missense_Mutation_p.D79H|KATNA1_ENST00000335647.5_Missense_Mutation_p.D79H NM_007044.3 NP_008975.1 O75449 KTNA1_HUMAN katanin p60 (ATPase containing) subunit A 1 79 Interaction with microtubule. cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 12 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) GGAGTGCTGTCCAGTTTAAAG 0.428000 14 20 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169586369 169586369 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:169586369C>G ENST00000263686.6 - 3 415 c.378G>C c.(376-378)agG>agC p.R126S SELP_ENST00000367792.2_Missense_Mutation_p.R126S|SELP_ENST00000367793.2_Missense_Mutation_p.R126S|SELP_ENST00000367786.2_Missense_Mutation_p.R126S|SELP_ENST00000367791.2_Missense_Mutation_p.R126S|SELP_ENST00000367788.2_Missense_Mutation_p.R126S|SELP_ENST00000458599.2_Missense_Mutation_p.R126S|SELP_ENST00000367794.2_Missense_Mutation_p.R126S NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 126 C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CCTCGTTGTTCCTTTTGTTGT 0.473000 22 173 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236767271 236767271 + Missense_Mutation SNP T T C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:236767271T>C ENST00000366582.3 - 2 239 c.125A>G c.(124-126)gAc>gGc p.D42G HEATR1_ENST00000366581.2_Missense_Mutation_p.D42G|HEATR1_ENST00000366579.1_Missense_Mutation_p.D42G NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 42 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GAAGGCGGTGTCCCTGTCGAT 0.448000 23 29 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62237952 62237952 + Nonsense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:62237952G>A ENST00000261517.5 - 45 5183 c.5110C>T c.(5110-5112)Cag>Tag p.Q1704* VPS13C_ENST00000395898.3_Nonsense_Mutation_p.Q1661*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.Q1704*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.Q1661* NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1704 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TAAACAATCTGAATACAACCC 0.348000 46 100 0 0 1 0 0 CD81 975 broad.mit.edu 37 11 2411684 2411684 + Translation_Start_Site SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr11:2411684C>A ENST00000526072.1 + 0 132 CD81_ENST00000381036.3_Missense_Mutation_p.H75N|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000263645.5_Missense_Mutation_p.H37N|CD81_ENST00000492627.1_De_novo_Start_OutOfFrame P60033 CD81_HUMAN CD81 molecule activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor integral to plasma membrane protein binding endometrium(1)|lung(3)|skin(1) 5 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191) GTGGCTCCGCCATGACCCGCA 0.617000 12 80 6.81908e-15 7.32518e-15 1 1 0 TTN 7273 broad.mit.edu 37 2 179569667 179569667 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:179569667C>T ENST00000589042.1 - 104 29855 c.29631G>A c.(29629-29631)gaG>gaA p.E9877E TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.E9560E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.E8633E|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9560 Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCGTCCCTCTCTGACCTCT 0.338000 39 43 0 0 1 0 0 OOEP 441161 broad.mit.edu 37 6 74079442 74079442 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr6:74079442C>T ENST00000370359.5 - 1 73 c.74G>A c.(73-75)cGt>cAt p.R25H OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Intron NM_001080507.2 NP_001073976.1 A6NGQ2 OOEP_HUMAN oocyte expressed protein 25 cytoplasm large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 8 TGGTAACCTACGCAGCTGCTC 0.637000 33 96 0 0 1 0 0 RNF24 11237 broad.mit.edu 37 20 3928904 3928904 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr20:3928904C>G ENST00000336095.6 - 3 417 c.166G>C c.(166-168)Gaa>Caa p.E56Q RNF24_ENST00000432261.2_Missense_Mutation_p.E77Q|RNF24_ENST00000358395.6_Missense_Mutation_p.E56Q|RNF24_ENST00000545616.2_Missense_Mutation_p.E77Q NM_007219.3 NP_009150.1 Q9Y225 RNF24_HUMAN ring finger protein 24 Golgi membrane|integral to membrane zinc ion binding large_intestine(1)|upper_aerodigestive_tract(1) 2 GCATAAAATTCTTTGTGTGCT 0.313000 20 49 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54547322 54547322 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr18:54547322G>A ENST00000254442.3 + 21 3663 c.3452G>A c.(3451-3453)cGa>cAa p.R1151Q WDR7_ENST00000357574.3_Missense_Mutation_p.R1118Q|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1151 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) ACCAGACCTCGAAGCTCTAGC 0.438000 9 28 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131339520 131339520 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr9:131339520C>T ENST00000372739.3 + 7 1008 c.898C>T c.(898-900)Ctg>Ttg p.L300L SPTAN1_ENST00000372731.4_Silent_p.L300L|SPTAN1_ENST00000358161.5_Silent_p.L300L NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 300 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GCACGAGGGTCTGGAGAGAGA 0.473000 54 58 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53596496 53596496 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr8:53596496C>T ENST00000025008.5 - 4 672 c.149G>A c.(148-150)gGa>gAa p.G50E RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.G50E|RB1CC1_ENST00000539297.1_Missense_Mutation_p.G50E NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 50 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CATGCATTCTCCTCCATTGAC 0.418000 6 38 0 0 1 0 0 VPS45 11311 broad.mit.edu 37 1 150054007 150054007 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:150054007G>C ENST00000369130.3 + 9 1410 c.864G>C c.(862-864)aaG>aaC p.K288N VPS45_ENST00000535106.1_Missense_Mutation_p.K219N|VPS45_ENST00000369128.5_Missense_Mutation_p.K183N NM_001279354.1|NM_007259.3 NP_001266283.1|NP_009190.2 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog (S. cerevisiae) 288 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GCAATATAAAGAATCTCATGG 0.343000 12 46 0 0 1 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106691850 106691850 + RNA SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr14:106691850C>T ENST00000390607.2 - 0 252 TCCCTGGAGCCTGGCGGACCC 0.557000 64 84 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236734889 236734889 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:236734889C>T ENST00000366582.3 - 27 3919 c.3805G>A c.(3805-3807)Gat>Aat p.D1269N HEATR1_ENST00000366581.2_Missense_Mutation_p.D1188N NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1269 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTGCCACCATCTGGAGATAGT 0.393000 24 58 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56392885 56392885 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr19:56392885G>C ENST00000301295.6 + 10 3339 c.2917G>C c.(2917-2919)Gag>Cag p.E973Q NLRP4_ENST00000587891.1_Missense_Mutation_p.E898Q|NLRP4_ENST00000346986.5_Missense_Mutation_p.E917Q NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 973 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TCTGACGGCTGAGGAAGAGAG 0.433000 8 16 0 0 1 0 0 ABCD1 215 broad.mit.edu 37 X 153006171 153006171 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chrX:153006171G>A ENST00000218104.3 + 7 2177 c.1778G>A c.(1777-1779)gGa>gAa p.G593E U52111.14_ENST00000434284.1_RNA NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 593 ABC transporter. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGCGGGAGGGAGGTAGGAGG 0.612000 20 34 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525633 248525633 + Silent SNP T T C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:248525633T>C ENST00000366475.1 + 1 751 c.751T>C c.(751-753)Tta>Cta p.L251L NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAGCTCCTATTTACTCATCCT 0.507000 61 106 0 0 1 0 0 EEF2K 29904 broad.mit.edu 37 16 22291571 22291571 + Missense_Mutation SNP A A T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:22291571A>T ENST00000263026.5 + 17 2416 c.1942A>T c.(1942-1944)Acg>Tcg p.T648S NM_013302.3 NP_037434 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 648 insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) CCTGGAGATGACGGACTGTGA 0.597000 14 20 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101821761 101821761 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr7:101821761G>A ENST00000360264.3 + 11 894 c.874G>A c.(874-876)Gag>Aag p.E292K CUX1_ENST00000437600.4_Missense_Mutation_p.E290K|CUX1_ENST00000292538.4_Missense_Mutation_p.E292K|CUX1_ENST00000393824.3_Missense_Mutation_p.E253K|CUX1_ENST00000549414.2_Missense_Mutation_p.E281K|CUX1_ENST00000556210.1_Missense_Mutation_p.E281K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000550008.2_Missense_Mutation_p.E281K|CUX1_ENST00000547394.2_Missense_Mutation_p.E276K|CUX1_ENST00000546411.2_Missense_Mutation_p.E281K|CUX1_ENST00000292535.7_Missense_Mutation_p.E281K|CUX1_ENST00000425244.2_Missense_Mutation_p.E246K NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 281 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 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 GCAGGCCATAGAGGTGCTGAC 0.612000 6 19 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53720397 53720397 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:53720397C>T ENST00000262135.4 - 6 817 c.724G>A c.(724-726)Gaa>Aaa p.E242K RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E242K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E242K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E242K NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 242 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) AACTCAATTTCATTTTCTTTT 0.353000 19 45 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77644815 77644815 + Missense_Mutation SNP A A G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr13:77644815A>G ENST00000407578.2 - 69 12121 c.11855T>C c.(11854-11856)aTg>aCg p.M3952T MYCBP2_ENST00000544440.2_Missense_Mutation_p.M3914T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M3914T NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3914 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GATTCCAACCATATGTTCTTT 0.318000 19 78 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77473564 77473564 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:77473564C>G ENST00000560626.2 - 4 1180 c.705G>C c.(703-705)gaG>gaC p.E235D PEAK1_ENST00000558305.1_Missense_Mutation_p.E235D|PEAK1_ENST00000312493.4_Missense_Mutation_p.E235D Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 235 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 CCTCTTCACTCTCCTCGCCAC 0.502000 33 101 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70468614 70468614 + Silent SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chrX:70468614G>A ENST00000373998.1 - 9 2356 c.1659C>T c.(1657-1659)ctC>ctT p.L553L ZMYM3_ENST00000353904.2_Silent_p.L553L|ZMYM3_ENST00000373988.1_Silent_p.L555L|ZMYM3_ENST00000314425.5_Silent_p.L553L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.L555L NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 553 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) AGGGGTCAGAGAGGCTGCGGC 0.582000 3 5 0 0 1 0 0 ADAM10 102 broad.mit.edu 37 15 58938397 58938397 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:58938397G>C ENST00000260408.3 - 6 1035 c.592C>G c.(592-594)Caa>Gaa p.Q198E ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 198 cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TGTTCTTCTTGAGGTATCTAT 0.294000 8 56 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99722092 99722092 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:99722092C>T ENST00000393483.3 - 8 1123 c.279G>A c.(277-279)acG>acA p.T93T TSGA10_ENST00000539964.1_Silent_p.T93T|TSGA10_ENST00000542655.1_Silent_p.T93T|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Silent_p.T93T|TSGA10_ENST00000355053.4_Silent_p.T93T NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 93 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TAGCATGTGCCGTTGTTGATT 0.413000 82 149 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138269523 138269523 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr7:138269523G>C ENST00000343526.4 + 19 3195 c.2980G>C c.(2980-2982)Gaa>Caa p.E994Q TRIM24_ENST00000415680.2_Missense_Mutation_p.E960Q O15164 TIF1A_HUMAN tripartite motif containing 24 994 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 TATAAAACTTGAAAATTATTT 0.303000 16 49 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156923996 156923996 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr5:156923996C>G ENST00000257527.4 - 14 1578 c.1500G>C c.(1498-1500)caG>caC p.Q500H ADAM19_ENST00000430702.2_Missense_Mutation_p.Q233H|ADAM19_ENST00000517905.1_Missense_Mutation_p.Q500H|ADAM19_ENST00000394020.1_Missense_Mutation_p.Q502H NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 500 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TACCATCCATCTGGTAGAAGT 0.637000 8 14 0 0 1 0 0 ATP5A1 498 broad.mit.edu 37 18 43671710 43671710 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr18:43671710G>A ENST00000593152.2 - 3 636 c.97C>T c.(97-99)Cgc>Tgc p.R33C ATP5A1_ENST00000282050.2_Missense_Mutation_p.R83C|ATP5A1_ENST00000590665.1_Missense_Mutation_p.R83C|ATP5A1_ENST00000398752.6_Missense_Mutation_p.R83C NM_001257335.1 NP_001244264.1 P25705 ATPA_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle 83 ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain mitochondrial matrix|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1) 22 CCATGTACGCGGGCAATACCA 0.393000 33 63 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53730076 53730076 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:53730076C>T ENST00000262135.4 - 3 310 c.217G>A c.(217-219)Gat>Aat p.D73N RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D73N|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.D73N|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.D73N|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D73N|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D73N NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 73 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) TTAATTTTATCCTCCTGCTTG 0.373000 64 104 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60419832 60419832 + Missense_Mutation SNP A A G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr20:60419832A>G ENST00000360469.5 + 5 773 c.685A>G c.(685-687)Atg>Gtg p.M229V CDH4_ENST00000543233.1_Missense_Mutation_p.M155V NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 229 Cadherin 1. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GTCCGGCCGGATGTACGTCAC 0.637000 6 46 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70507264 70507264 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr10:70507264C>G ENST00000265872.6 + 8 886 c.767C>G c.(766-768)tCt>tGt p.S256C CCAR1_ENST00000543719.1_Missense_Mutation_p.S241C|CCAR1_ENST00000535016.1_Missense_Mutation_p.S241C NM_001282959.1|NM_001282960.1|NM_018237.2 NP_001269888.1|NP_001269889.1|NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 256 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding p.S256Y(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TCAGCAGCTTCTATTACACCA 0.463000 14 127 0 0 1 0 0 SLC34A3 142680 broad.mit.edu 37 9 140128721 140128721 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr9:140128721C>T ENST00000538474.1 + 10 1310 c.1086C>T c.(1084-1086)atC>atT p.I362I SLC34A3_ENST00000361134.2_Silent_p.I362I NM_001177316.1|NM_001177317.1 NP_001170787|NP_001170788 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 362 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GGACAGTCATCAATGCGGGTG 0.672000 7 7 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51225251 51225251 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr14:51225251G>C ENST00000245441.5 - 18 2687 c.2497C>G c.(2497-2499)Ctg>Gtg p.L833V NIN_ENST00000324330.9_Missense_Mutation_p.L833V|NIN_ENST00000530997.2_Missense_Mutation_p.L833V|NIN_ENST00000382041.3_Missense_Mutation_p.L833V|NIN_ENST00000453196.1_Missense_Mutation_p.L833V|NIN_ENST00000389868.3_Intron|NIN_ENST00000382043.4_Intron NM_020921.3 NP_065972 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 833 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) AGGCTTTGCAGAGCGCTTTCA 0.498000 T PDGFRB MPD 15 45 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33366075 33366075 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr6:33366075G>C ENST00000428849.2 + 3 611 c.161G>C c.(160-162)aGa>aCa p.R54T NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 54 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 AAACGGACAAGAGGCCTGGGT 0.517000 26 72 0 0 1 0 0 MCTP2 55784 broad.mit.edu 37 15 94942281 94942281 + Missense_Mutation SNP T T C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:94942281T>C ENST00000357742.4 + 14 1880 c.1880T>C c.(1879-1881)aTa>aCa p.I627T MCTP2_ENST00000557742.1_Missense_Mutation_p.I215T|MCTP2_ENST00000331706.4_Missense_Mutation_p.I215T|MCTP2_ENST00000451018.3_Missense_Mutation_p.I627T NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 627 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) ATGGACCTTATATATAATCCG 0.373000 12 18 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35750516 35750516 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr3:35750516G>C ENST00000187397.4 + 11 1307 c.851G>C c.(850-852)aGa>aCa p.R284T ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000417925.1_Intron NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 284 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ATTGAAGAGAGAGAAGAGGAA 0.403000 7 30 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 7 57 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81528644 81528644 + Missense_Mutation SNP A A G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr12:81528644A>G ENST00000548058.1 + 3 1416 c.506A>G c.(505-507)gAc>gGc p.D169G ACSS3_ENST00000261206.3_Missense_Mutation_p.D168G Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 169 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 AAGAAAGGTGACACTGTGGTT 0.433000 25 25 0 0 1 0 0 RANBP3L 202151 broad.mit.edu 37 5 36251541 36251541 + Nonsense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr5:36251541G>A ENST00000296604.3 - 13 1713 c.1228C>T c.(1228-1230)Caa>Taa p.Q410* RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.Q435* NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like 410 RanBD1. intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) TTGAAGCTTTGAAGTGCAACA 0.388000 26 63 0 0 1 0 0 SULT6B1 391365 broad.mit.edu 37 2 37402281 37402281 + Silent SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:37402281C>G ENST00000535679.1 - 5 617 c.618G>C c.(616-618)ctG>ctC p.L206L SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Silent_p.L168L|SULT6B1_ENST00000407963.1_Silent_p.L168L Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 1 206 cytoplasm sulfotransferase activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) TCACCTCTTTCAGGTCTTCAT 0.299000 11 23 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51287509 51287509 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr7:51287509C>T ENST00000395542.2 - 2 358 c.174G>A c.(172-174)ctG>ctA p.L58L COBL_ENST00000441453.1_Silent_p.L58L|COBL_ENST00000265136.7_Silent_p.L58L|COBL_ENST00000395540.2_Silent_p.L58L O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 58 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TGCTGGCCCTCAGCGCCTCCT 0.642000 21 47 0 0 1 0 0 YBX1 4904 broad.mit.edu 37 1 43162472 43162472 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:43162472G>A ENST00000321358.7 + 5 653 c.514G>A c.(514-516)Gag>Aag p.E172K YBX1_ENST00000467957.1_3'UTR NM_004559.3 NP_004550.2 P67809 YBOX1_HUMAN Y box binding protein 1 172 CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2) 16 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGAAAAGAACGAGGGATCGGA 0.567000 6 52 0 0 1 0 0 RAD50 10111 broad.mit.edu 37 5 131930578 131930578 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr5:131930578C>T ENST00000378823.3 + 12 2212 c.1394C>T c.(1393-1395)tCt>tTt p.S465F RAD50_ENST00000265335.6_Missense_Mutation_p.S604F NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 604 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTAGCTTCATCTGAGCAGAAT 0.313000 Homologous recombination 35 106 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102586040 102586040 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr8:102586040C>G ENST00000251808.3 + 6 1217 c.879C>G c.(877-879)atC>atG p.I293M GRHL2_ENST00000395927.1_Missense_Mutation_p.I277M NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 293 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) GACACCCCATCAGCAAAGTCA 0.502000 12 27 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67132208 67132208 + Missense_Mutation SNP A A G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr17:67132208A>G ENST00000590645.1 - 4 673 c.485T>C c.(484-486)tTa>tCa p.L162S ABCA6_ENST00000284425.2_Intron Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 0 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) AAAATTCCATAATGATATTTG 0.338000 5 36 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7016489 7016489 + Splice_Site SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr18:7016489C>A ENST00000389658.3 - 21 3083 c.e21+1 NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCAAGGCTTACGTGTACAGCT 0.498000 15 29 8.00594e-06 8.18451e-06 1 1 0 CDH19 28513 broad.mit.edu 37 18 64176314 64176314 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr18:64176314G>C ENST00000262150.2 - 11 2038 c.1746C>G c.(1744-1746)tgC>tgG p.C582W CDH19_ENST00000540086.1_Intron NM_021153.3 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 582 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) CCTGGTACTGGCAGGTCTGTG 0.443000 7 31 0 0 1 0 0 ZCCHC4 29063 broad.mit.edu 37 4 25315676 25315676 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr4:25315676C>G ENST00000302874.4 + 2 160 c.136C>G c.(136-138)Ctt>Gtt p.L46V ZCCHC4_ENST00000505451.1_3'UTR NM_024936.2 NP_079212.2 Q9H5U6 ZCHC4_HUMAN zinc finger, CCHC domain containing 4 46 methyltransferase activity|nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1) 9 Breast(46;0.0503) AGGACCCACTCTTCTGTTTGT 0.368000 10 75 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 61 52 0 0 1 0 0 CIB2 10518 broad.mit.edu 37 15 78403615 78403615 + Silent SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:78403615C>A ENST00000258930.3 - 3 418 c.90G>T c.(88-90)ctG>ctT p.L30L CIB2_ENST00000539011.1_5'UTR|CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000557846.1_Intron NM_006383.2 NP_006374.1 O75838 CIB2_HUMAN calcium and integrin binding family member 2 30 calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 ATCGCGAATGCAGCCTTGGAG 0.602000 7 34 3.09899e-07 3.17993e-07 1 1 0 INHA 3623 broad.mit.edu 37 2 220439446 220439446 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:220439446G>C ENST00000243786.2 + 2 479 c.299G>C c.(298-300)aGa>aCa p.R100T INHA_ENST00000489456.1_3'UTR NM_002191.3 NP_002182.1 P05111 INHA_HUMAN inhibin, alpha 100 cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development inhibin A complex|inhibin-betaglycan-ActRII complex cytokine activity|growth factor activity|hormone activity|signal transducer activity large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 Renal(207;0.0183) Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TCAGCTGCCAGAGGGCTGGCC 0.617000 4 11 0 0 1 0 0 SLC12A9 56996 broad.mit.edu 37 7 100453341 100453341 + Silent SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr7:100453341C>A ENST00000354161.3 + 4 455 c.330C>A c.(328-330)cgC>cgA p.R110R SLC12A9_ENST00000428758.1_Silent_p.R110R|SLC12A9_ENST00000540482.1_Silent_p.R110R|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000415287.1_Intron NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 110 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) TGATCAGCCGCACACTGGGGC 0.577000 16 70 1.99824e-07 2.05811e-07 1 1 0 CNTNAP1 8506 broad.mit.edu 37 17 40837369 40837369 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr17:40837369G>A ENST00000264638.4 + 5 863 c.646G>A c.(646-648)Gag>Aag p.E216K CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 216 Laminin G-like 1. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity p.E216K(1) NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GCTGCACGCCGAGGGCGCCCA 0.662000 20 22 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21854819 21854819 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr5:21854819G>A ENST00000382254.1 - 7 1693 c.607C>T c.(607-609)Ctt>Ttt p.L203F CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000504376.2_Missense_Mutation_p.L203F NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 203 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TGTCCCTGAAGAATGCTGTAA 0.388000 HNSCC(59;0.17) 16 56 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33014697 33014697 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr14:33014697G>A ENST00000280979.4 + 4 1008 c.838G>A c.(838-840)Gac>Aac p.D280N AKAP6_ENST00000557272.1_Missense_Mutation_p.D280N|AKAP6_ENST00000557354.1_Missense_Mutation_p.D280N NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 280 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GGTAGCTGCTGACTCTATCTC 0.453000 16 64 0 0 1 0 0 AGGF1 55109 broad.mit.edu 37 5 76342249 76342249 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr5:76342249G>A ENST00000312916.7 + 6 1330 c.948G>A c.(946-948)atG>atA p.M316I NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 316 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) TCGCAAATATGAAAAAGAAGG 0.398000 35 124 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81862414 81862414 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr14:81862414G>C ENST00000555447.1 - 4 609 c.197C>G c.(196-198)tCg>tGg p.S66W STON2_ENST00000267540.2_Missense_Mutation_p.S66W NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 66 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) ATCCTGCTCCGAGTGGGAATG 0.612000 15 42 0 0 1 0 0 MAP1LC3A 84557 broad.mit.edu 37 20 33137790 33137790 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr20:33137790G>A ENST00000374837.3 + 2 145 c.9G>A c.(7-9)atG>atA p.M3I NM_181509.2 NP_852610.1 Q9H492 MLP3A_HUMAN microtubule-associated protein 1 light chain 3 alpha 0 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule phosphatidylethanolamine binding|protein binding cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2) 5 AGATGAAGATGAGATTCTTCA 0.557000 24 50 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46099337 46099337 + Missense_Mutation SNP T T A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr4:46099337T>A ENST00000295452.4 - 2 301 c.134A>T c.(133-135)gAg>gTg p.E45V NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 45 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CGTTAAATCCTCATCATCTTC 0.328000 7 82 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10753635 10753635 + Missense_Mutation SNP A A G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr19:10753635A>G ENST00000586078.1 + 22 2186 c.2077A>G c.(2077-2079)Aga>Gga p.R693G SLC44A2_ENST00000335757.5_Intron|SLC44A2_ENST00000407327.4_Intron NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 693 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GCCCGAGCTGAGAGACATCCT 0.637000 4 15 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183498138 183498138 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:183498138C>T ENST00000367537.3 + 8 950 c.755C>T c.(754-756)tCc>tTc p.S252F SMG7_ENST00000508461.1_Missense_Mutation_p.S181F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000347615.2_Missense_Mutation_p.S223F|SMG7_ENST00000507469.1_Missense_Mutation_p.S223F|SMG7_ENST00000515829.2_Missense_Mutation_p.S223F|SMG7_ENST00000456731.2_Missense_Mutation_p.S181F Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 223 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 CCAGCTGCCTCCACTAATCTG 0.418000 52 110 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41056737 41056737 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chrX:41056737G>A ENST00000324545.8 + 29 4987 c.4354G>A c.(4354-4356)Gaa>Aaa p.E1452K USP9X_ENST00000378308.2_Missense_Mutation_p.E1452K NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TATTGGTTGTGAAAAAGGAGG 0.338000 3 19 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 52 0 0 1 0 0 CCDC132 55610 broad.mit.edu 37 7 92883216 92883216 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr7:92883216G>C ENST00000544910.1 + 5 399 c.179G>C c.(178-180)aGa>aCa p.R60T CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.R90T|CCDC132_ENST00000305866.5_Missense_Mutation_p.R90T|CCDC132_ENST00000317751.6_5'UTR NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 90 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GAGGCGTATAGAGACAAATTG 0.318000 7 28 0 0 1 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187712478 187712478 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:187712478C>T ENST00000295131.2 - 2 249 c.210G>A c.(208-210)ccG>ccA p.P70P NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 70 apoptosis zinc ion binding p.P70Q(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CCCCTCCTTTCGGAAATGTGG 0.353000 48 34 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726240 53726240 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:53726240C>T ENST00000262135.4 - 4 360 c.267G>A c.(265-267)aaG>aaA p.K89K RPGRIP1L_ENST00000379925.3_Silent_p.K89K|RPGRIP1L_ENST00000564374.1_Silent_p.K89K|RPGRIP1L_ENST00000563746.1_Silent_p.K89K NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 89 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) CATATCTTTTCTTGTCATTAA 0.433000 40 105 0 0 1 0 0 AP2M1 1173 broad.mit.edu 37 3 183901308 183901308 + Silent SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr3:183901308G>A ENST00000382456.3 + 11 1520 c.1206G>A c.(1204-1206)ttG>ttA p.L402L AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Silent_p.L402L|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000411763.2_Silent_p.L429L|AP2M1_ENST00000292807.5_Silent_p.L404L NM_001025205.1 NP_001020376.1 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 404 MHD. axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 18 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGCGCTACTTGAAGGTGTTTG 0.542000 21 54 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 3 41 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101821749 101821749 + Splice_Site SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr7:101821749G>A ENST00000360264.3 + 11 882 c.862G>A c.(862-864)Gag>Aag p.E288K CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Splice_Site_p.E288K|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Splice_Site_p.E277K|CUX1_ENST00000556210.1_Splice_Site_p.E277K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000550008.2_Splice_Site_p.E277K|CUX1_ENST00000547394.2_Splice_Site_p.E272K|CUX1_ENST00000546411.2_Splice_Site_p.E277K|CUX1_ENST00000292535.7_Splice_Site_p.E277K|CUX1_ENST00000425244.2_Splice_Site_p.E242K NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 277 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 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 TCCTCCCCAGGAGCAGGCCAT 0.597000 5 17 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542996 14542996 + Silent SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr18:14542996G>A ENST00000358970.5 - 1 149 c.150C>T c.(148-150)gaC>gaT p.D50D POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 50 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TAAAGGAGTCGTCGTGGTCTC 0.587000 21 278 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136583879 136583879 + Splice_Site SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr9:136583879C>A ENST00000371867.1 - 7 890 c.754G>T c.(754-756)Gca>Tca p.A252S SARDH_ENST00000422262.2_Intron|SARDH_ENST00000439388.1_Intron|SARDH_ENST00000371872.4_Intron Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 0 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TATTTGACTGCCTGCCAGGAC 0.572000 36 55 3.62531e-18 3.90964e-18 1 1 0 ITFG1 81533 broad.mit.edu 37 16 47294562 47294562 + Missense_Mutation SNP G G T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:47294562G>T ENST00000320640.6 - 11 1343 c.1115C>A c.(1114-1116)gCa>gAa p.A372E ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.A259E NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 372 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) TTCACAGCTTGCATTATTACA 0.448000 16 101 1.33834e-09 1.3994e-09 1 1 0 NALCN 259232 broad.mit.edu 37 13 101735205 101735205 + Silent SNP A A G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr13:101735205A>G ENST00000251127.6 - 33 3801 c.3720T>C c.(3718-3720)ccT>ccC p.P1240P NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1240 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTGTTGCCAAAGGTACGGTCA 0.507000 7 41 0 0 1 0 0 RNF152 220441 broad.mit.edu 37 18 59483116 59483116 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr18:59483116G>C ENST00000312828.3 - 2 1680 c.581C>G c.(580-582)tCt>tGt p.S194C NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 194 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) GAAGCGCTTAGAAATGCAAGA 0.537000 4 70 0 0 1 0 0 TEDDM1 127670 broad.mit.edu 37 1 182368845 182368845 + Nonsense_Mutation SNP G G T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:182368845G>T ENST00000367565.1 - 1 906 c.776C>A c.(775-777)tCa>tAa p.S259* NM_172000.3 NP_741997.3 Q5T9Z0 TEDM1_HUMAN transmembrane epididymal protein 1 259 integral to membrane haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2) 7 CTCTTTCTCTGACTGCTCCAC 0.547000 25 44 6.32553e-13 6.7163e-13 1 1 0 EPHA5 2044 broad.mit.edu 37 4 66270151 66270151 + Silent SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr4:66270151C>A ENST00000273854.3 - 8 2331 c.1731G>T c.(1729-1731)gtG>gtT p.V577V EPHA5_ENST00000511294.1_Silent_p.V578V|EPHA5_ENST00000432638.2_Silent_p.V414V|EPHA5_ENST00000354839.4_Silent_p.V577V NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 577 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CTGTCACAGACACAGCAATTA 0.468000 TSP Lung(17;0.13) 16 17 4.7546e-09 4.95271e-09 1 1 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726199 53726199 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:53726199C>T ENST00000262135.4 - 4 401 c.308G>A c.(307-309)gGa>gAa p.G103E RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.G103E|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.G103E|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.G103E NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 103 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding p.G103V(1) endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) CACATCTCGTCCCAGCCGCTT 0.433000 18 140 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63978862 63978862 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr11:63978862C>T ENST00000279227.5 + 5 725 c.630C>T c.(628-630)ctC>ctT p.L210L FERMT3_ENST00000345728.5_Silent_p.L210L NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 210 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 CCCTCCTGCTCCAGCGTCTGC 0.697000 7 15 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95080900 95080900 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr14:95080900G>C ENST00000467132.1 + 2 1270 c.122G>C c.(121-123)cGa>cCa p.R41P SERPINA3_ENST00000393078.3_Missense_Mutation_p.R41P|SERPINA3_ENST00000393080.4_Missense_Mutation_p.R41P|RP11-986E7.7_ENST00000553947.1_3'UTR P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 41 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) AACCAAGACCGAGGGACACAC 0.582000 22 35 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53721793 53721793 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:53721793C>T ENST00000262135.4 - 5 707 c.614G>A c.(613-615)aGa>aAa p.R205K RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R205K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R205K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R205K NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 205 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) TATTTCTCCTCTGGCTTCTTC 0.303000 60 65 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215963624 215963624 + Splice_Site SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:215963624C>T ENST00000366943.2 - 51 10345 c.9959G>A c.(9958-9960)gGt>gAt p.G3320D USH2A_ENST00000307340.3_Splice_Site_p.G3320D O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3320 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACAGAACATACCTGCAACAAT 0.368000 HNSCC(13;0.011) 8 53 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70507134 70507134 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr10:70507134C>G ENST00000265872.6 + 8 756 c.637C>G c.(637-639)Cag>Gag p.Q213E CCAR1_ENST00000543719.1_Missense_Mutation_p.Q198E|CCAR1_ENST00000535016.1_Missense_Mutation_p.Q198E NM_001282959.1|NM_001282960.1|NM_018237.2 NP_001269888.1|NP_001269889.1|NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 213 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 ATTGAAGAATCAGTCGCAAAC 0.388000 21 126 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 80109519 80109519 + Silent SNP A A G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr5:80109519A>G ENST00000265081.6 + 20 2852 c.2772A>G c.(2770-2772)gcA>gcG p.A924A NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 924 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ATGTTCCTGCAGAAGAAGCGA 0.398000 Mismatch excision repair (MMR) 41 99 0 0 1 0 0 TTC37 9652 broad.mit.edu 37 5 94849305 94849305 + Silent SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr5:94849305G>C ENST00000358746.2 - 27 3046 c.2748C>G c.(2746-2748)ctC>ctG p.L916L TTC37_ENST00000515176.1_5'UTR NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 916 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TGTGCCTGAAGAGATCCATGG 0.333000 12 34 0 0 1 0 0 GBP1 2633 broad.mit.edu 37 1 89522718 89522718 + Nonsense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:89522718G>C ENST00000370473.4 - 7 1193 c.974C>G c.(973-975)tCa>tGa p.S325* NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 325 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) CACTGCAGCTGAGTTCTCTAT 0.582000 36 71 0 0 1 0 0 FAM20B 9917 broad.mit.edu 37 1 179033178 179033178 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:179033178C>G ENST00000263733.4 + 5 1027 c.691C>G c.(691-693)Ctg>Gtg p.L231V NM_014864.3 NP_055679.1 O75063 XYLK_HUMAN family with sequence similarity 20, member B 231 Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3) 14 TGTGTGGCCTCTGCAGAAGCA 0.502000 19 40 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84517852 84517852 + RNA SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:84517852G>A ENST00000331369.5 + 0 46 CCCACGTGCAGGAAGCCGGGT 0.667000 3 10 0 0 1 0 0 UNK 85451 broad.mit.edu 37 17 73812972 73812972 + Silent SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr17:73812972G>A ENST00000293218.3 + 9 1311 c.1311G>A c.(1309-1311)ccG>ccA p.P437P UNK_ENST00000589666.1_Silent_p.P361P Q9C0B0 UNK_HUMAN unkempt family zinc finger 361 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) CCTCCAGCCCGCATGCCCCTG 0.647000 3 17 0 0 1 0 0 SORBS3 10174 broad.mit.edu 37 8 22423940 22423940 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr8:22423940G>A ENST00000240123.7 + 13 1416 c.1033G>A c.(1033-1035)Gat>Aat p.D345N RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000428103.1_Missense_Mutation_p.D3N|SORBS3_ENST00000523740.1_3'UTR NM_005775.4 NP_005766.3 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 345 muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CAAAATGGCTGATGGAGGAAG 0.622000 16 69 0 0 1 0 0 SLC9A4 389015 broad.mit.edu 37 2 103095336 103095336 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:103095336G>C ENST00000295269.4 + 2 752 c.295G>C c.(295-297)Gaa>Caa p.E99Q NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 99 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTCATGCCAGAAAGCTGCCT 0.592000 32 30 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57164478 57164478 + Nonsense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr4:57164478C>G ENST00000504228.1 + 2 188 c.83C>G c.(82-84)tCa>tGa p.S28* KIAA1211_ENST00000541073.1_Missense_Mutation_p.H14D|KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.S28* Q6ZU35 K1211_HUMAN KIAA1211 28 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CAAGCAATGTCACAGGACAAC 0.483000 14 38 0 0 1 0 0 TAF3 83860 broad.mit.edu 37 10 7860702 7860702 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr10:7860702G>C ENST00000344293.5 + 1 236 c.30G>C c.(28-30)ttG>ttC p.L10F NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 10 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 GGTCGTTGTTGAGGGTCTCGG 0.677000 4 21 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29904709 29904709 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr12:29904709C>T ENST00000256062.5 - 5 977 c.504G>A c.(502-504)caG>caA p.Q168Q TMTC1_ENST00000552618.1_Silent_p.Q276Q|TMTC1_ENST00000539277.1_Silent_p.Q276Q|TMTC1_ENST00000381224.2_Silent_p.Q168Q|TMTC1_ENST00000551659.1_Silent_p.Q276Q NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 276 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GGAACCGCTGCTGCTTCCCAT 0.647000 4 30 0 0 1 0 0 SPATA22 84690 broad.mit.edu 37 17 3343612 3343612 + Silent SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr17:3343612C>T ENST00000573128.1 - 9 1404 c.921G>A c.(919-921)ctG>ctA p.L307L SPATA22_ENST00000541913.1_Silent_p.L291L|SPATA22_ENST00000397168.3_Silent_p.L307L|SPATA22_ENST00000572969.1_Silent_p.L307L|SPATA22_ENST00000268981.5_3'UTR|SPATA22_ENST00000575375.1_Silent_p.L307L|SPATA22_ENST00000355380.4_Silent_p.L264L Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 307 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 GGCCTCTAATCAGTCTCGGAA 0.328000 34 47 0 0 1 0 0 NFXL1 152518 broad.mit.edu 37 4 47905299 47905299 + Silent SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr4:47905299G>C ENST00000507489.1 - 5 734 c.558C>G c.(556-558)ccC>ccG p.P186P NFXL1_ENST00000329043.3_Silent_p.P186P|NFXL1_ENST00000381538.3_Silent_p.P186P NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 186 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 TCTGGATACAGGGCATGTGAA 0.353000 15 64 0 0 1 0 0 C3orf58 205428 broad.mit.edu 37 3 143691543 143691543 + Silent SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr3:143691543G>A ENST00000315691.3 + 1 904 c.369G>A c.(367-369)caG>caA p.Q123Q C3orf58_ENST00000493396.1_3'UTR NM_173552.3 NP_775823.1 Q8NDZ4 CC058_HUMAN chromosome 3 open reading frame 58 123 COPI vesicle coat|extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AGCTCGACCAGAGCATCTGCA 0.736000 13 24 0 0 1 0 0 C1QBP 708 broad.mit.edu 37 17 5338204 5338204 + Nonsense_Mutation SNP C C A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr17:5338204C>A ENST00000225698.4 - 3 547 c.466G>T c.(466-468)Gaa>Taa p.E156* C1QBP_ENST00000574444.1_Nonsense_Mutation_p.E52* NM_001212.3 NP_001203.1 Q07021 C1QBP_HUMAN complement component 1, q subcomponent binding protein 156 blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms mitochondrial matrix|nucleus|plasma membrane lung(2)|ovary(1) 3 TCCTGTTCTTCAACCTTCTGC 0.458000 24 32 1.1804e-14 1.26307e-14 1 1 0 ADAM10 102 broad.mit.edu 37 15 58938322 58938322 + Missense_Mutation SNP G G C TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:58938322G>C ENST00000260408.3 - 6 1110 c.667C>G c.(667-669)Cag>Gag p.Q223E ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 223 Peptidase M12B. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) ATATAAAGCTGACAAGTATTT 0.348000 9 62 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151504881 151504881 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:151504881G>A ENST00000271636.7 + 14 2708 c.2575G>A c.(2575-2577)Gag>Aag p.E859K NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 853 myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GTTTCAGTTGGAGAAGATCGG 0.567000 28 48 0 0 1 0 0 PI4KB 5298 broad.mit.edu 37 1 151266916 151266916 + Missense_Mutation SNP G G A TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:151266916G>A ENST00000368875.2 - 11 2733 c.2153C>T c.(2152-2154)tCa>tTa p.S718L PI4KB_ENST00000368873.1_Missense_Mutation_p.S706L|PI4KB_ENST00000529142.1_Missense_Mutation_p.S374L|PI4KB_ENST00000368874.4_Missense_Mutation_p.S691L|PI4KB_ENST00000271657.5_Missense_Mutation_p.S718L|PI4KB_ENST00000368872.1_Missense_Mutation_p.S691L NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 706 PI3K/PI4K. phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTTAAAGGCTGACGTCTCAAA 0.512000 11 27 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72313310 72313310 + Missense_Mutation SNP C C G TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr15:72313310C>G ENST00000356056.5 - 5 1519 c.1047G>C c.(1045-1047)gaG>gaC p.E349D MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.E349D|MYO9A_ENST00000564571.1_Missense_Mutation_p.E349D|MYO9A_ENST00000424560.1_Missense_Mutation_p.E349D|MYO9A_ENST00000566885.1_5'UTR NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 349 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 ATGCTGATCTCTCATCTTCAC 0.358000 17 28 0 0 1 0 0 POMGNT2 84892 broad.mit.edu 37 3 43122653 43122653 + Missense_Mutation SNP C C T TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr3:43122653C>T ENST00000344697.2 - 2 616 c.271G>A c.(271-273)Gag>Aag p.E91K POMGNT2_ENST00000441964.1_Missense_Mutation_p.E91K NM_032806.5 NP_116195.2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ATGAACTCCTCAGCCTCGTTG 0.622000 14 43 0 0 1 0 0 LRRC8C 84230 broad.mit.edu 37 1 90180340 90180340 + Frame_Shift_Del DEL A A - TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr1:90180340delA ENST00000370454.4 + 3 2466 c.2211delA c.(2209-2211)ggafs p.G737fs LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron NM_032270.4 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 737 endoplasmic reticulum membrane|integral to membrane p.G737G(1) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) TGAAGATTGGAAAAAACAGCC 0.348 18 134 --- --- --- --- ANKRD20A8P 729171 broad.mit.edu 37 2 95513688 95513689 + RNA INS - - TA TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr2:95513688_95513689insTA ENST00000432432.2 - 0 850 NR_040113.1 CTCACCTAATGTATAAGATGGA 0.327 8 131 --- --- --- --- TNKS 8658 broad.mit.edu 37 8 9413492 9413494 + In_Frame_Del DEL CAA CAA - rs112547145 byFrequency TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr8:9413492_9413494delCAA ENST00000310430.6 + 1 69_71 c.43_45delCAA c.(43-45)caadel p.Q17del TNKS_ENST00000520408.1_In_Frame_Del_p.Q17del|RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000522110.1_In_Frame_Del_p.Q17del NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 17 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) CCACCATCATCAACAACAGCTCC 0.704 14 53 --- --- --- --- TSC1 7248 broad.mit.edu 37 9 135797314 135797314 + Frame_Shift_Del DEL G G - rs118203398 TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr9:135797314delG ENST00000298552.3 - 7 776 c.555delC c.(553-555)tacfs p.Y185fs TSC1_ENST00000403810.1_Frame_Shift_Del_p.Y185fs|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000545250.1_Frame_Shift_Del_p.Y134fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.Y185fs NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 185 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.Y185Y(1)|p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GAAAGAGTGCGTACACACTGG 0.463 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 32 34 --- --- --- --- C1QTNF9B 387911 broad.mit.edu 37 13 24465779 24465779 + Frame_Shift_Del DEL T T - TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr13:24465779delT ENST00000382137.3 - 3 719 c.651delA c.(649-651)tcafs p.S217fs C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382140.2_Frame_Shift_Del_p.S217fs|C1QTNF9B_ENST00000556521.1_Intron NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 217 C1q. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 TGGGCACATCTGAAGAAGGAA 0.438 11 119 --- --- --- --- C1QTNF9 338872 broad.mit.edu 37 13 24895555 24895555 + Frame_Shift_Del DEL A A - TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr13:24895555delA ENST00000382071.2 + 4 736 c.651delA c.(649-651)tcafs p.S217fs AL359736.1_ENST00000422229.2_Frame_Shift_Del_p.S4fs|C1QTNF9_ENST00000332018.4_Frame_Shift_Del_p.S217fs|C1QTNF9-AS1_ENST00000449656.1_RNA P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 217 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) TTCCTTCTTCAGATATGCCCA 0.443 11 48 --- --- --- --- ABCC6P1 653190 broad.mit.edu 37 16 18593649 18593649 + RNA DEL A A - TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr16:18593649delA ENST00000546162.2 + 0 805 NR_003569.1 ccctgtctcgaaaaaaaaaaa 0.507 3 5 --- --- --- --- NCOR1P1 149934 broad.mit.edu 37 20 26084428 26084428 + RNA DEL C C - TCGA-ZF-AA54-01A-11D-A391-08 TCGA-ZF-AA54-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx cb2b4f1a-26bc-4d00-ab5e-fcdbd7cb34f0 ce7b03f8-f3f4-4031-afc1-e6e908218c45 g.chr20:26084428delC ENST00000478176.1 - 0 150 NR_003678.1 TCTAATGAAACCTTTAGTAGT 0.313 3 5 --- --- --- ---