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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 6 446 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21599227 21599227 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:21599227G>A ENST00000328843.6 + 4 730 c.699G>A c.(697-699)ccG>ccA p.P233P DNAH11_ENST00000409508.3_Silent_p.P233P Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 233 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GTAGGCCACCGTCAAACGAAA 0.308000 Kartagener syndrome 14 129 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974704 21974704 + Silent SNP C C A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:21974704C>A ENST00000304494.5 - 1 393 c.123G>T c.(121-123)ccG>ccT p.P41P CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Silent_p.P41P|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Silent_p.P41P|CDKN2A_ENST00000446177.1_Silent_p.P41P NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 41 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGTAACTATTCGGTGCGTTGG 0.697000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 260 158 3.24227e-129 3.53987e-129 1 1 0 C5orf42 65250 broad.mit.edu 37 5 37187926 37187926 + Missense_Mutation SNP C C A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr5:37187926C>A ENST00000274258.7 - 22 4060 c.473G>T c.(472-474)tGt>tTt p.C158F C5orf42_ENST00000508244.1_Missense_Mutation_p.C1277F|C5orf42_ENST00000425232.2_Missense_Mutation_p.C1277F E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1277 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ACACAGAGCACAAAGTTCTCT 0.358000 9 117 0.00621372 0.00621372 1 1 0 L1CAM 3897 broad.mit.edu 37 X 153138054 153138054 + Missense_Mutation SNP C C G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chrX:153138054C>G ENST00000370060.1 - 4 379 c.190G>C c.(190-192)Gaa>Caa p.E64Q L1CAM_ENST00000361699.4_Missense_Mutation_p.E64Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.E66Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.E59Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.E64Q|L1CAM_ENST00000361981.3_Missense_Mutation_p.E59Q NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 64 Ig-like C2-type 1. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACTGCACTTCGGGCTTGCCA 0.602000 64 146 0 0 1 0 0 RP11-248G5.8 0 broad.mit.edu 37 13 52864001 52864001 + RNA SNP A A G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr13:52864001A>G ENST00000451298.1 - 0 168 RP11-64P12.8_ENST00000606031.1_RNA GAAAAAATAAAGCAATAGCTA 0.313000 6 131 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20566614 20566614 + Nonsense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:20566614C>T ENST00000329697.6 - 4 741 c.573G>A c.(571-573)tgG>tgA p.W191* ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.W191*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.W112*|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.W191* NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 191 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TGAAGTTCAGCCACCCATCGC 0.443000 8 904 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 5 482 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 11 374 4.7546e-09 4.9518e-09 1 1 0 RNF39 80352 broad.mit.edu 37 6 30043491 30043491 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:30043491C>T ENST00000244360.6 - 1 173 c.76G>A c.(76-78)Gca>Aca p.A26T RNF39_ENST00000376751.3_Missense_Mutation_p.A26T NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 26 cytoplasm zinc ion binding TTAACTTTTGCCGCTTTCCGC 0.602000 5 372 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118284525 118284525 + Silent SNP C C A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chrX:118284525C>A ENST00000402510.2 - 1 17 c.18G>T c.(16-18)acG>acT p.T6T NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 6 p.T6T(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 AGCCTCGAGGCGTCCAGCCGG 0.652000 129 66 7.61991e-58 8.27933e-58 1 1 0 TDG 6996 broad.mit.edu 37 12 104377099 104377099 + Missense_Mutation SNP G G T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:104377099G>T ENST00000392872.3 + 7 958 c.724G>T c.(724-726)Gtt>Ttt p.V242F TDG_ENST00000266775.9_Missense_Mutation_p.V238F|TDG_ENST00000542036.1_Missense_Mutation_p.V38F|TDG_ENST00000544861.1_Missense_Mutation_p.V99F NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 242 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) TAGTAAAGAAGTTTTTGGAGT 0.284000 Base excision repair (BER), DNA glycosylases 16 455 1.67942e-08 1.74105e-08 1 1 0 KIR3DX1 0 broad.mit.edu 37 19 55048290 55048290 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:55048290C>T ENST00000335056.3 + 5 895 c.857C>T c.(856-858)aCg>aTg p.T286M KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) GGCCGTGCAACGCCAGTCCCT 0.562000 159 498 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135304378 135304378 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:135304378A>G ENST00000285968.6 + 29 4197 c.4171A>G c.(4171-4173)Att>Gtt p.I1391V NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1391 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 TTTTGCTTCTATTGGAGATTC 0.368000 13 162 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54133825 54133825 + Silent SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:54133825C>T ENST00000404125.1 - 26 2908 c.2853G>A c.(2851-2853)cgG>cgA p.R951R PSME4_ENST00000421748.2_Silent_p.R95R NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 951 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CAGTTAGTGTCCGTAGCTAAG 0.308000 14 370 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 11 92 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57945695 57945695 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:57945695G>A ENST00000564448.1 - 25 2496 c.2436C>T c.(2434-2436)ctC>ctT p.L812L CNGB1_ENST00000251102.8_Silent_p.L818L Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 818 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GAGTGGAGCCGAGGCCCTGAT 0.547000 85 171 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52881586 52881586 + Missense_Mutation SNP C C G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:52881586C>G ENST00000330722.6 - 9 1681 c.1613G>C c.(1612-1614)gGc>gCc p.G538A NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 538 Tail. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) AGAGCTGAGGCCACCCCCAAT 0.577000 6 338 0 0 1 0 0 GPR3 2827 broad.mit.edu 37 1 27720926 27720926 + Silent SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:27720926C>T ENST00000374024.3 + 2 723 c.624C>T c.(622-624)atC>atT p.I208I NM_005281.2 NP_005272.1 P46089 GPR3_HUMAN G protein-coupled receptor 3 208 activation of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane endometrium(3)|lung(3)|ovary(1)|skin(1) 8 Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419) TGTTTGGCATCATGCTGCAGC 0.577000 14 428 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138400061 138400061 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:138400061G>A ENST00000409968.1 + 21 3981 c.3803G>A c.(3802-3804)cGa>cAa p.R1268Q THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATTTTAGGTCGAATGAGCCGG 0.478000 158 352 0 0 1 0 0 PGF 5228 broad.mit.edu 37 14 75416111 75416111 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:75416111G>A ENST00000555567.1 - 3 805 c.264C>T c.(262-264)ggC>ggT p.G88G PGF_ENST00000238607.6_Silent_p.G87G|PGF_ENST00000405431.2_Silent_p.G88G|PGF_ENST00000553716.1_Silent_p.G88G NM_002632.5 NP_002623.2 P49763 PLGF_HUMAN placental growth factor 88 angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway extracellular region|membrane growth factor activity|heparin binding kidney(1)|large_intestine(3)|lung(3)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.00668) GATTCTCATCGCCGCAGCAGC 0.632000 12 240 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:203821508C>G ENST00000545588.1 + 17 6241 c.2414C>G c.(2413-2415)tCa>tGa p.S805* ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805* NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 805 nucleic acid binding|protein binding|zinc ion binding p.S805*(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTGAGCTATCAGAAATGATT 0.378000 4 281 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276052 186276052 + Missense_Mutation SNP A A C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:186276052A>C ENST00000445192.2 + 7 1246 c.1201A>C c.(1201-1203)Acc>Ccc p.T401P PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 401 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T401P(4)|p.T400>?(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.642000 15 467 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223986037 223986037 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:223986037C>T ENST00000391878.2 - 13 2209 c.1441G>A c.(1441-1443)Gtg>Atg p.V481M TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000343537.7_Missense_Mutation_p.V610M NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 604 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) CTTGCTGCCACGGTCTGGGGT 0.527000 30 756 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139165088 139165088 + Nonsense_Mutation SNP C C A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:139165088C>A ENST00000395297.1 - 13 1800 c.1630G>T c.(1630-1632)Gag>Tag p.E544* NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 544 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGTCCATCCTCTGGACCTGGA 0.512000 HNSCC(54;0.14) 22 238 1.2644e-06 1.28719e-06 1 1 0 FOLH1 2346 broad.mit.edu 37 11 49221961 49221961 + Missense_Mutation SNP G G C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:49221961G>C ENST00000340334.7 - 4 580 c.212C>G c.(211-213)aCa>aGa p.T71R FOLH1_ENST00000256999.2_Missense_Mutation_p.T86R|FOLH1_ENST00000533034.1_Missense_Mutation_p.T71R|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.T86R NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 86 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GTTTTGTTCTGTTCCTGCTAA 0.348000 8 156 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 6 292 0 0 1 0 0 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:35906559A>C ENST00000354323.2 + 1 371 c.275A>C c.(274-276)cAc>cCc p.H92P NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane p.H92P(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccacccccgccac 0.682000 17 31 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36595176 36595176 + Nonsense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:36595176C>T ENST00000299440.5 + 2 434 c.322C>T c.(322-324)Cga>Tga p.R108* NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 108 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) AGCCAACCTTCGACATCTCTG 0.463000 Familial Hemophagocytic Lymphohistiocytosis 146 224 0 0 1 0 0 ZNF543 125919 broad.mit.edu 37 19 57839619 57839619 + Silent SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:57839619T>C ENST00000321545.4 + 4 1134 c.789T>C c.(787-789)gcT>gcC p.A263A NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GTGGGAAGGCTTTTAACCGCA 0.522000 5 463 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43937444 43937444 + Missense_Mutation SNP G G T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:43937444G>T ENST00000282406.4 + 13 2299 c.2189G>T c.(2188-2190)gGt>gTt p.G730V NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 730 PH 1. G -> C (in Ref. 1; CAI46132). 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) CTTAAAGGTGGTGAATTACTT 0.363000 108 376 1.15365e-47 1.24748e-47 1 1 0 DDX11 1663 broad.mit.edu 37 12 31237922 31237922 + Missense_Mutation SNP G G C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:31237922G>C ENST00000251758.5 + 5 751 c.500G>C c.(499-501)aGa>aCa p.R167T DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000407793.2_Missense_Mutation_p.R167T Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 167 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding p.R167T(11) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAGAAGAAAGAGAGAATCTC 0.612000 Multiple Myeloma(12;0.14) 5 59 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540781 133540781 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:133540781G>A ENST00000409261.1 - 14 3976 c.3603C>T c.(3601-3603)atC>atT p.I1201I NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.I1201I NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1201 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CACCCGCTGTGATCTCCATGC 0.478000 44 224 0 0 1 0 0 FMNL3 91010 broad.mit.edu 37 12 50044493 50044493 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:50044493G>A ENST00000335154.5 - 17 2199 c.1966C>T c.(1966-1968)Cgc>Tgc p.R656C FMNL3_ENST00000550488.1_Missense_Mutation_p.R656C|FMNL3_ENST00000293590.5_Missense_Mutation_p.R656C|FMNL3_ENST00000352151.5_Missense_Mutation_p.R605C NM_175736.4 NP_783863.4 Q8IVF7 FMNL3_HUMAN formin-like 3 656 FH2. 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 TCAGCCGAGCGGCCAGCCTTG 0.582000 50 186 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239185809 239185809 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:239185809C>T ENST00000254657.3 - 3 535 c.256G>A c.(256-258)Gca>Aca p.A86T PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 86 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity p.A86T(1) NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TCAGATTTTGCCATCATCAGG 0.383000 9 1564 0 0 1 0 0 CCL24 6369 broad.mit.edu 37 7 75441265 75441265 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:75441265C>T ENST00000416943.1 - 4 302 c.209G>A c.(208-210)gGc>gAc p.G70D CCL24_ENST00000222902.2_Missense_Mutation_p.G70D NM_002991.2 NP_002982.2 O00175 CCL24_HUMAN chemokine (C-C motif) ligand 24 70 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity endometrium(1)|lung(2) 3 GAACTGCTGGCCCTTCTTGGT 0.612000 6 255 0 0 1 0 0 ZNF37BP 0 broad.mit.edu 37 10 43019068 43019068 + RNA SNP A A G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr10:43019068A>G ENST00000473592.1 - 0 2491 ACCTACTGAGACAAGGTGGCT 0.438000 69 232 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16877170 16877170 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr10:16877170G>A ENST00000377833.4 - 64 10270 c.10205C>T c.(10204-10206)gCa>gTa p.A3402V NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3402 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTTGCCAAATGCCTTGTGATA 0.438000 43 324 0 0 1 0 0 TNNI3K 51086 broad.mit.edu 37 1 74905279 74905279 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:74905279G>A ENST00000370891.2 + 22 2303 c.2287G>A c.(2287-2289)Gaa>Aaa p.E763K TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E763K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E763K NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCACTGGCGAAATTCCATT 0.438000 24 469 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1645335 1645335 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:1645335C>T ENST00000421627.2 + 11 2713 c.2579C>T c.(2578-2580)cCg>cTg p.P860L NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 939 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) ATGCCGAGGCCGACGTCGCAG 0.667000 13 87 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846121 18846121 + RNA SNP C C T rs4302302 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:18846121C>T ENST00000412938.1 + 0 3479 CACGCACTGGCGCACGATGTA 0.617000 5 196 0 0 1 0 0 ALCAM 214 broad.mit.edu 37 3 105290748 105290748 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:105290748A>G ENST00000306107.5 + 15 2217 c.1717A>G c.(1717-1719)Aag>Gag p.K573E ALCAM_ENST00000486979.2_Missense_Mutation_p.K522E|ALCAM_ENST00000389927.4_Missense_Mutation_p.K295E|ALCAM_ENST00000472644.2_Missense_Mutation_p.K560E NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 573 cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 AGAAAACAAAAAGTTAGAAGA 0.353000 31 244 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32493062 32493062 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr21:32493062G>A ENST00000286827.3 - 29 4871 c.4400C>T c.(4399-4401)cCg>cTg p.P1467L TIAM1_ENST00000541036.1_Missense_Mutation_p.P1407L NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1467 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CTCTTTCTCCGGGCTGCTTGC 0.577000 37 221 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70831785 70831785 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:70831785T>C ENST00000322773.4 + 17 1394 c.1292T>C c.(1291-1293)aTa>aCa p.I431T COL19A1_ENST00000393344.1_Missense_Mutation_p.I53T NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 431 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CCTCCTGGAATACAAGGAATA 0.269000 7 516 0 0 1 0 0 XRCC3 7517 broad.mit.edu 37 14 104169592 104169592 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:104169592C>T ENST00000553264.1 - 5 1275 c.479G>A c.(478-480)cGg>cAg p.R160Q XRCC3_ENST00000445556.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000555055.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000554913.1_Missense_Mutation_p.R160Q|XRCC3_ENST00000352127.7_Missense_Mutation_p.R160Q|XRCC3_ENST00000554974.1_Intron O43542 XRCC3_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 3 160 DNA recombination|DNA repair mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity endometrium(1)|large_intestine(1)|ovary(1)|prostate(1) 4 Melanoma(154;0.155)|all_epithelial(191;0.19) Epithelial(152;0.239) AGTGCGCAGCCGCGGCTGCTG 0.622000 Direct reversal of damage;Homologous recombination 7 31 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202699041 202699041 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:202699041G>A ENST00000367265.3 - 26 5455 c.4291C>T c.(4291-4293)Cgg>Tgg p.R1431W KDM5B_ENST00000367264.2_Missense_Mutation_p.R1467W NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1431 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 TTGGGGGTCCGCATTTTCTTA 0.463000 8 891 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57092011 57092011 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:57092011A>G ENST00000436936.1 + 28 4006 c.3781A>G c.(3781-3783)Aga>Gga p.R1261G NLRC5_ENST00000308149.7_Missense_Mutation_p.R1232G|NLRC5_ENST00000539144.1_Missense_Mutation_p.R1232G|NLRC5_ENST00000262510.6_Missense_Mutation_p.R1261G|RP11-322D14.2_ENST00000562970.1_RNA Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1261 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CAGCGGACTCAGATGCCTTCT 0.572000 4 181 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52672018 52672018 + Splice_Site SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr15:52672018C>T ENST00000399231.3 - 17 2343 c.e17+1 MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GCCAGGCTCACCGTGAGGGGA 0.453000 75 418 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 8 247 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879561 144879561 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:144879561A>G ENST00000369359.4 - 30 4335 c.4297T>C c.(4297-4299)Tgt>Cgt p.C1433R PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1297 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.C1297R(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGCTCCTCACACTCTGAAAAA 0.502000 T PDGFRB MPD 7 454 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33031332 33031332 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:33031332T>C ENST00000340811.4 - 3 590 c.482A>G c.(481-483)tAc>tGc p.Y161C PKP2_ENST00000070846.6_Missense_Mutation_p.Y161C NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 161 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GCTGTGCGTGTAGTGAGCCCT 0.592000 34 795 0 0 1 0 0 TCP10 6953 broad.mit.edu 37 6 167796320 167796320 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:167796320G>A ENST00000366827.2 - 2 253 c.42C>T c.(40-42)gaC>gaT p.D14D TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D Q12799 TCP10_HUMAN t-complex 10 41 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CGGCATTGCTGTCCTCCCTGG 0.652000 5 100 0 0 1 0 0 HRC 3270 broad.mit.edu 37 19 49657913 49657913 + Silent SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:49657913C>T ENST00000252825.4 - 1 768 c.582G>A c.(580-582)gaG>gaA p.E194E HRC_ENST00000595625.1_Silent_p.E194E NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 194 4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic). muscle contraction sarcoplasmic reticulum lumen calcium ion binding p.E194E(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) cctcctcctcctcttcTCCTT 0.557000 6 375 0 0 1 0 0 SOX11 6664 broad.mit.edu 37 2 5833216 5833216 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:5833216G>A ENST00000322002.3 + 1 418 c.363G>A c.(361-363)cgG>cgA p.R121R NM_003108.3 NP_003099.1 P35716 SOX11_HUMAN SRY (sex determining region Y)-box 11 121 cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) ACCGGCCCCGGAAAAAGCCCA 0.692000 4 136 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 9 509 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140181071 140181071 + Missense_Mutation SNP G G C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr5:140181071G>C ENST00000522353.2 + 1 289 c.289G>C c.(289-291)Ggg>Cgg p.G97R PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 p.G97R(2)|p.G97W(2) NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAACTGTGCGGGCGGAGCGC 0.557000 10 799 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26689975 26689975 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:26689975G>A ENST00000272371.2 - 35 4480 c.4354C>T c.(4354-4356)Cgc>Tgc p.R1452C OTOF_ENST00000402415.3_Missense_Mutation_p.R762C|OTOF_ENST00000339598.3_Missense_Mutation_p.R685C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1452 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCTTGAAGCGTCCCACAATG 0.642000 36 175 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43683042 43683042 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:43683042A>G ENST00000599812.1 - 3 793 c.698T>C c.(697-699)cTg>cCg p.L233P PSG5_ENST00000342951.6_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000404580.1_Intron|PSG5_ENST00000407568.1_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 140 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GAGGAGATTCAGGGTGACTGG 0.522000 8 1575 0 0 1 0 0 GPR21 2844 broad.mit.edu 37 9 125797611 125797611 + Nonsense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:125797611C>T ENST00000373642.1 + 1 806 c.766C>T c.(766-768)Cga>Tga p.R256* RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron NM_005294.1 NP_005285.1 Q99679 GPR21_HUMAN G protein-coupled receptor 21 256 integral to plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 15 GGTCCTGTTTCGAATCACTAG 0.507000 33 557 0 0 1 0 0 HDHD2 84064 broad.mit.edu 37 18 44661018 44661018 + Silent SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr18:44661018C>T ENST00000300605.6 - 3 311 c.159G>A c.(157-159)aaG>aaA p.K53K HDHD2_ENST00000587841.1_Intron NM_032124.4 NP_115500.1 Q9H0R4 HDHD2_HUMAN haloacid dehalogenase-like hydrolase domain containing 2 53 hydrolase activity kidney(2)|large_intestine(2)|lung(1)|skin(1) 6 ACAGGTCTTGCTTGCTCTCTT 0.403000 65 211 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 5 252 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32589921 32589921 + Missense_Mutation SNP C C A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr21:32589921C>A ENST00000286827.3 - 10 2561 c.2090G>T c.(2089-2091)tGg>tTg p.W697L TIAM1_ENST00000541036.1_Missense_Mutation_p.W697L|TIAM1_ENST00000469412.1_5'UTR NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 697 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 ATCCAGACCCCACAGAGAAGA 0.532000 57 368 1.27862e-28 1.36306e-28 1 1 0 PCDH11X 27328 broad.mit.edu 37 X 91132649 91132649 + Silent SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chrX:91132649C>T ENST00000373094.1 + 2 2255 c.1410C>T c.(1408-1410)ttC>ttT p.F470F PCDH11X_ENST00000395337.2_Silent_p.F470F|PCDH11X_ENST00000361655.2_Silent_p.F470F|PCDH11X_ENST00000504220.1_Silent_p.F470F|PCDH11X_ENST00000361724.1_Silent_p.F470F|PCDH11X_ENST00000298274.8_Silent_p.F470F|PCDH11X_ENST00000373088.1_Silent_p.F470F|PCDH11X_ENST00000406881.1_Silent_p.F470F|PCDH11X_ENST00000373097.1_Silent_p.F470F NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 470 Cadherin 5. 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 CCCAGTCTTTCGTAACTGTTT 0.433000 145 78 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 7 142 0 0 1 0 0 CD8B 926 broad.mit.edu 37 2 87085345 87085345 + Missense_Mutation SNP T T G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:87085345T>G ENST00000390655.6 - 2 296 c.238A>C c.(238-240)Atc>Ctc p.I80L CD8B_ENST00000331469.2_Missense_Mutation_p.I80L|CD8B_ENST00000393759.2_Missense_Mutation_p.I80L|CD8B_ENST00000349455.3_Missense_Mutation_p.I80L|CD8B_ENST00000393761.2_Missense_Mutation_p.I80L|CD8B_ENST00000431506.2_Intron NM_004931.4 NP_004922.1 P10966 CD8B_HUMAN CD8b molecule 80 Ig-like V-type. immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction early endosome|extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 13 TCACCGTGGATAGTCCCTTTT 0.552000 48 384 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44685548 44685548 + Silent SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr20:44685548C>T ENST00000454036.1 + 24 3268 c.3192C>T c.(3190-3192)aaC>aaT p.N1064N SLC12A5_ENST00000243964.3_Silent_p.N1041N NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 1064 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AGTGGGAGAACTTGTAAGTGC 0.493000 53 353 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145651191 145651191 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr5:145651191G>A ENST00000265271.5 + 19 3108 c.2942G>A c.(2941-2943)gGa>gAa p.G981E RBM27_ENST00000506502.1_Missense_Mutation_p.G926E NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 981 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTAACAGTTGGAGGATTCATT 0.443000 31 244 0 0 1 0 0 DCAF5 8816 broad.mit.edu 37 14 69522129 69522129 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:69522129C>T ENST00000341516.5 - 9 1421 c.1274G>A c.(1273-1275)cGa>cAa p.R425Q DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000557386.1_Missense_Mutation_p.R424Q|DCAF5_ENST00000556847.1_Missense_Mutation_p.R343Q|DCAF5_ENST00000554215.1_Missense_Mutation_p.R343Q NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 425 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 CTCGATCTCTCGGCGTACCAG 0.587000 5 272 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011719 46011719 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr21:46011719G>A ENST00000400368.1 - 1 667 c.647C>T c.(646-648)cCa>cTa p.P216L TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 216 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GCAGCAAGTTGGCTGGCAGCT 0.667000 8 835 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143100949 143100949 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:143100949C>T ENST00000316549.6 - 13 1685 c.1477G>A c.(1477-1479)Gtg>Atg p.V493M SLC9A9-AS2_ENST00000490153.1_RNA NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 493 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 TCCAGGTCCACGCCAACTCTG 0.438000 105 526 0 0 1 0 0 AL445989.1 0 broad.mit.edu 37 13 64320999 64320999 + Silent SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr13:64320999T>C ENST00000453638.2 + 1 66 c.66T>C c.(64-66)tcT>tcC p.S22S endometrium(2)|lung(1)|urinary_tract(1) 4 gctatggctctggttatggct 0.522000 6 107 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100679220 100679220 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:100679220C>T ENST00000306151.4 + 3 4587 c.4523C>T c.(4522-4524)aCg>aTg p.T1508M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1508 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCAATCTCAACGCCTAGTGAA 0.473000 97 1218 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155450620 155450620 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:155450620G>A ENST00000461783.3 + 6 1536 c.263G>A c.(262-264)gGt>gAt p.G88D TIAM2_ENST00000360366.4_Missense_Mutation_p.G88D|TIAM2_ENST00000456144.1_Missense_Mutation_p.G88D|TIAM2_ENST00000529824.2_Missense_Mutation_p.G88D|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.G88D Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 88 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GTCTCCAGAGGTGTTGCCTAC 0.552000 14 170 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 8 459 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70257750 70257750 + Nonsense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:70257750C>T ENST00000310961.5 + 5 647 c.229C>T c.(229-231)Cga>Tga p.R77* LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Nonsense_Mutation_p.R110*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.R72* Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 72 centrosome|focal adhesion|nucleolus protein binding p.R72G(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TCAAGCTCTACGAAAACTAAG 0.294000 134 351 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 6 139 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131593364 131593364 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:131593364G>A ENST00000261654.5 + 18 2542 c.1983G>A c.(1981-1983)gtG>gtA p.V661V GPR133_ENST00000535015.1_Silent_p.V693V|GPR133_ENST00000543617.1_Silent_p.V180V|GPR133_ENST00000376682.4_Silent_p.V347V NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 661 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) ACAGCATGGTGATCAAGGTCT 0.612000 264 172 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53303834 53303834 + Missense_Mutation SNP A A T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:53303834A>T ENST00000438150.2 - 2 1998 c.1105T>A c.(1105-1107)Tat>Aat p.Y369N ZNF28_ENST00000360272.4_Missense_Mutation_p.Y369N|ZNF28_ENST00000414252.2_Missense_Mutation_p.Y369N|ZNF28_ENST00000457749.2_Missense_Mutation_p.Y422N P17035 ZNF28_HUMAN zinc finger protein 28 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TATGAATTATATGCAAAAGCC 0.353000 10 1162 0 0 1 0 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170029 20170029 + RNA SNP C C T rs144252881 by1000genomes TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr15:20170029C>T ENST00000338912.5 - 0 242 CCTGGAACTTCTGTGCATAGC 0.547000 7 650 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46932271 46932271 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr21:46932271G>A ENST00000359759.4 + 41 5245 c.5224G>A c.(5224-5226)Gtg>Atg p.V1742M COL18A1_ENST00000400337.2_Missense_Mutation_p.V1327M|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.V1507M P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1742 Nonhelical region 11 (NC11). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CGCCTACATCGTGCTCTGCAT 0.692000 7 107 0 0 1 0 0 OSGIN1 29948 broad.mit.edu 37 16 83994666 83994666 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:83994666G>A ENST00000343939.2 + 6 1109 c.726G>A c.(724-726)caG>caA p.Q242Q OSGIN1_ENST00000565123.1_Silent_p.Q159Q|OSGIN1_ENST00000361711.3_Silent_p.Q159Q|OSGIN1_ENST00000393306.1_Silent_p.Q159Q Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 242 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 ACTGGATGCAGAAGAAGCGAA 0.572000 57 242 0 0 1 0 0 PFKFB4 5210 broad.mit.edu 37 3 48563059 48563059 + Missense_Mutation SNP T T A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:48563059T>A ENST00000232375.3 - 10 1143 c.1031A>T c.(1030-1032)tAt>tTt p.Y344F PFKFB4_ENST00000536104.1_Missense_Mutation_p.Y333F|PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Missense_Mutation_p.Y337F|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.Y310F NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 344 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) CTCCAGTGGATAATTATCCTG 0.557000 14 141 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 85961592 85961592 + Missense_Mutation SNP G G A rs150681488 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:85961592G>A ENST00000383699.3 + 6 1226 c.599G>A c.(598-600)cGa>cAa p.R200Q CADM2_ENST00000405615.2_Missense_Mutation_p.R193Q|CADM2_ENST00000407528.2_Missense_Mutation_p.R191Q NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 191 Ig-like C2-type 1. 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) CTGGACTTCCGAGTGGACCGG 0.433000 70 140 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 10 464 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103400665 103400665 + Missense_Mutation SNP G G C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:103400665G>C ENST00000358392.2 - 45 3796 c.3479C>G c.(3478-3480)cCt>cGt p.P1160R COL11A1_ENST00000512756.1_Missense_Mutation_p.P1032R|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1148R|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1109R NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1148 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGGACCGGGAGGGCCCTGCAG 0.448000 14 112 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021899 5021899 + Missense_Mutation SNP C C A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:5021899C>A ENST00000382545.3 + 2 2462 c.1355C>A c.(1354-1356)tCt>tAt p.S452Y KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 452 S -> Y (in Ref. 1; AAA36139). synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATGAGCAAGTCTGAGTACATG 0.483000 160 1029 6.34276e-37 6.82602e-37 1 1 0 TMEM132E 124842 broad.mit.edu 37 17 32953262 32953262 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:32953262C>T ENST00000321639.5 + 2 512 c.184C>T c.(184-186)Cgg>Tgg p.R62W NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 62 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GCGGGAGGCGCGGCCCCCGTC 0.731000 7 37 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7571743 7571743 + Missense_Mutation SNP C C G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:7571743C>G ENST00000379802.3 + 14 2170 c.1829C>G c.(1828-1830)tCt>tGt p.S610C DSP_ENST00000418664.2_Missense_Mutation_p.S610C NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 610 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAAATACAGTCTCAGTTCACC 0.488000 41 678 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 89016677 89016677 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:89016677G>A ENST00000556564.1 - 2 369 c.85C>T c.(85-87)Ctg>Ttg p.L29L PTPN21_ENST00000328736.3_Silent_p.L29L|PTPN21_ENST00000554628.1_5'UTR NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 29 FERM. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TTATTAAGCAGTTGGATCCGG 0.567000 86 322 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262241 45262241 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr5:45262241C>T ENST00000303230.4 - 8 2512 c.2455G>A c.(2455-2457)Gtg>Atg p.V819M NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 819 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ACCGCCGTCACGGGTTGAGGG 0.677000 9 102 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629414 1629414 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:1629414C>T ENST00000399685.1 - 1 279 c.202G>A c.(202-204)Ggc>Agc p.G68S NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 68 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) CCACAAGAGCCACAGACCCCC 0.667000 30 435 0 0 1 0 0 NKX2-4 644524 broad.mit.edu 37 20 21376877 21376877 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr20:21376877C>T ENST00000351817.4 - 2 1365 c.737G>A c.(736-738)cGg>cAg p.R246Q NM_033176.1 NP_149416.1 Q9H2Z4 NKX24_HUMAN NK2 homeobox 4 246 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|upper_aerodigestive_tract(1) 3 CTTGGCCTGCCGTTTCATCTT 0.711000 11 45 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533656 55533656 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:55533656G>A ENST00000220676.1 + 2 278 c.130G>A c.(130-132)Gga>Aga p.G44R NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 44 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CTACAAGAGCGGAGACCCCCA 0.547000 13 287 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 10 1324 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171509737 171509737 + Silent SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:171509737C>T ENST00000367742.3 + 16 3374 c.3132C>T c.(3130-3132)gtC>gtT p.V1044V PRRC2C_ENST00000426496.2_Silent_p.V1042V|PRRC2C_ENST00000392078.3_Silent_p.V1044V|PRRC2C_ENST00000338920.4_Silent_p.V1042V Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1042 protein C-terminus binding CCGAAAAGGTCACTGAAAAAG 0.468000 137 178 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 6 486 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111102671 111102671 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr13:111102671G>A ENST00000360467.5 + 20 1515 c.1209G>A c.(1207-1209)ccG>ccA p.P403P NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 403 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GAGGCCTGCCGGGTGAGATGG 0.632000 98 220 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12364627 12364627 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:12364627C>T ENST00000358136.3 + 26 6411 c.6281C>T c.(6280-6282)aCg>aTg p.T2094M VPS13D_ENST00000356315.4_Missense_Mutation_p.T2094M NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2094 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) ACGACAAGCACGGAGGAGCCC 0.522000 26 159 0 0 1 0 0 ATF5 22809 broad.mit.edu 37 19 50436260 50436260 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:50436260G>A ENST00000423777.2 + 3 1137 c.760G>A c.(760-762)Gca>Aca p.A254T CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_Missense_Mutation_p.A254T NM_001193646.1 NP_001180575.1 Q9Y2D1 ATF5_HUMAN activating transcription factor 5 254 regulation of transcription from RNA polymerase II promoter cytoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity NS(1)|endometrium(2)|large_intestine(1)|skin(3) 7 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017) GAAGGAACGGGCAGAGTCCGT 0.667000 12 212 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242312551 242312551 + Missense_Mutation SNP T T A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:242312551T>A ENST00000264042.3 + 2 199 c.29T>A c.(28-30)gTc>gAc p.V10D FARP2_ENST00000545004.1_Missense_Mutation_p.V10D|FARP2_ENST00000479427.1_3'UTR|FARP2_ENST00000373287.4_Missense_Mutation_p.V10D NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 10 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) ACATACAGAGTCCTGCAGACT 0.463000 99 177 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 6 205 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101802811 101802811 + Silent SNP C C T rs146647282 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:101802811C>T ENST00000375001.3 + 23 2907 c.2484C>T c.(2482-2484)gaC>gaT p.D828D NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 828 Triple-helical region 4 (COL4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) AGGGGCCGGACGGGTTGCCTG 0.587000 167 143 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:7578406C>T ENST00000420246.2 - 5 656 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652000 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 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) 82 79 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067497 11067497 + Silent SNP C C T rs144034291 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:11067497C>T ENST00000287766.4 + 9 1309 c.888C>T c.(886-888)taC>taT p.Y296Y SLC6A1_ENST00000536032.1_Silent_p.Y118Y NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 296 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TCTTCTCATACGGGCTGGGCC 0.532000 63 370 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151054871 151054871 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:151054871G>A ENST00000367328.1 + 3 366 c.54G>A c.(52-54)tcG>tcA p.S18S PLEKHG1_ENST00000358517.2_Silent_p.S18S NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 18 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CATCATCCTCGGCCTCTTCCC 0.542000 6 401 0 0 1 0 0 EXOG 9941 broad.mit.edu 37 3 38539118 38539118 + Splice_Site SNP A A T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:38539118A>T ENST00000287675.5 + 2 259 c.e2-1 EXOG_ENST00000422077.2_Intron|EXOG_ENST00000358249.2_Splice_Site NM_005107.3 NP_005098.2 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 17 TTTCATTTTTAGGATCTGCAG 0.373000 10 168 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:132547141G>A ENST00000333577.4 + 48 8446 c.8337G>A c.(8335-8337)caG>caA p.Q2779Q EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q Q96L91 EP400_HUMAN E1A binding protein p400 2779 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.Q2742Q(2) 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) agcagcaacagcagcagcagc 0.597000 6 181 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151738335 151738335 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr4:151738335A>G ENST00000535741.1 - 31 5719 c.5246T>C c.(5245-5247)gTc>gCc p.V1749A LRBA_ENST00000510413.1_Missense_Mutation_p.V1749A|LRBA_ENST00000357115.3_Missense_Mutation_p.V1749A|LRBA_ENST00000507224.1_Missense_Mutation_p.V1749A P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1749 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AACCACACTGACAGCATTGGT 0.398000 84 259 0 0 1 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354423 45354423 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr20:45354423G>A ENST00000359271.2 + 2 998 c.748G>A c.(748-750)Gtg>Atg p.V250M NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 250 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) GCAGCCCAACGTGCTGTGCTA 0.622000 83 599 0 0 1 0 0 FZD1 8321 broad.mit.edu 37 7 90894600 90894600 + Silent SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:90894600C>T ENST00000287934.2 + 1 818 c.405C>T c.(403-405)ccC>ccT p.P135P NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 135 FZ. autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CCATCATGCCCAACCTGCTGG 0.617000 23 522 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70541973 70541973 + Missense_Mutation SNP C C A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:70541973C>A ENST00000310961.5 + 24 4622 c.4204C>A c.(4204-4206)Cca>Aca p.P1402T LRRC7_ENST00000415775.2_Missense_Mutation_p.P728T|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1444T Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1444 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GGATGGATATCCAGAGCAGGT 0.463000 32 196 1.55811e-20 1.65321e-20 1 1 0 BFSP2 8419 broad.mit.edu 37 3 133119141 133119141 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:133119141C>T ENST00000302334.2 + 1 303 c.214C>T c.(214-216)Cgt>Tgt p.R72C NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 72 Head. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 CTTGGGTGCCCGTGTGACCCG 0.667000 47 264 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153026597 153026597 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr5:153026597G>A ENST00000285900.5 + 3 673 c.330G>A c.(328-330)acG>acA p.T110T GRIA1_ENST00000521843.2_Silent_p.T41T|GRIA1_ENST00000448073.4_Silent_p.T120T|GRIA1_ENST00000340592.5_Silent_p.T110T|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Silent_p.T120T|GRIA1_ENST00000518142.1_Intron NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 110 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding p.T110T(2) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCTTCATTACGCCGAGCTTTC 0.498000 108 346 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248403055 248403055 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:248403055G>A ENST00000306687.1 + 1 825 c.825G>A c.(823-825)tcG>tcA p.S275S NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|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;0.0245) AGATGGTGTCGGCCTTCTACA 0.488000 54 296 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54314230 54314230 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:54314230T>C ENST00000324134.6 - 3 851 c.683A>G c.(682-684)cAc>cGc p.H228R NLRP12_ENST00000391775.3_Missense_Mutation_p.H228R|NLRP12_ENST00000391772.1_Missense_Mutation_p.H228R|NLRP12_ENST00000391773.1_Missense_Mutation_p.H228R|NLRP12_ENST00000351894.4_Missense_Mutation_p.H228R|NLRP12_ENST00000345770.5_Missense_Mutation_p.H228R|NLRP12_ENST00000354278.3_Missense_Mutation_p.H228R|NLRP12_ENST00000535162.1_Missense_Mutation_p.H228R NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 228 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CATCACCTTGTGTGCCAGCAT 0.577000 13 462 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25453246 25453246 + RNA SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr15:25453246C>T ENST00000424208.1 + 0 2384 SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 ATGATGAGAACCTTATATTTT 0.532000 11 1082 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 7 1052 0 0 1 0 0 MTG2 26164 broad.mit.edu 37 20 60772965 60772965 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr20:60772965G>A ENST00000370823.3 + 4 428 c.410G>A c.(409-411)gGa>gAa p.G137E MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000436421.2_Intron NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 GGTTTCAGTGGAGAAGATGGA 0.562000 23 520 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119976795 119976795 + Missense_Mutation SNP T T A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:119976795T>A ENST00000313400.4 - 3 957 c.857A>T c.(856-858)gAg>gTg p.E286V ASTN2_ENST00000373996.3_Missense_Mutation_p.E286V|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.E286V O75129 ASTN2_HUMAN astrotactin 2 286 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GATGGGAGTCTCCCGGATGGG 0.617000 17 208 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 8 228 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140385 3140385 + Silent SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:3140385C>T ENST00000252463.2 - 5 972 c.885G>A c.(883-885)gcG>gcA p.A295A ZSCAN10_ENST00000538082.2_Silent_p.A213A|ZSCAN10_ENST00000575108.1_5'UTR NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 295 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 CCCCGCAGTCCGCGCAGATGA 0.632000 84 304 0 0 1 0 0 FUT6 2528 broad.mit.edu 37 19 5831521 5831521 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:5831521C>T ENST00000318336.4 - 3 2252 c.1058G>A c.(1057-1059)gGc>gAc p.G353D FUT6_ENST00000286955.5_Missense_Mutation_p.G353D|FUT6_ENST00000527106.1_Missense_Mutation_p.G353D|FUT6_ENST00000592563.1_Intron|FUT6_ENST00000524754.1_Missense_Mutation_p.G353D NM_000150.2 NP_000141.1 P51993 FUT6_HUMAN fucosyltransferase 6 (alpha (1,3) fucosyltransferase) 353 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(2) 6 AGCCGCTATGCCGCGTGTCTG 0.632000 6 385 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 7 520 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44102445 44102445 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:44102445C>T ENST00000272286.2 + 11 1739 c.1649C>T c.(1648-1650)gCg>gTg p.A550V NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 550 ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTGGCCGCCGCGGCCCTGCTC 0.617000 112 235 0 0 1 0 0 TM9SF2 9375 broad.mit.edu 37 13 100153955 100153955 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr13:100153955G>A ENST00000376387.4 + 1 285 c.95G>A c.(94-96)cGg>cAg p.R32Q NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 32 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) GGCCCGCGCCGGAGCGGCGCT 0.667000 6 384 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19353645 19353645 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr18:19353645G>A ENST00000261537.6 + 4 856 c.592G>A c.(592-594)Gat>Aat p.D198N MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 198 MIB/HERC2 2. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) TGTCCTCTGGGATAATGGTGC 0.428000 23 543 0 0 1 0 0 LILRA2 0 broad.mit.edu 37 19 55086927 55086927 + Missense_Mutation SNP C C G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:55086927C>G ENST00000251377.3 + 6 993 c.860C>G c.(859-861)cCc>cGc p.P287R LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CCTGTGAGCCCCTCCCACGGG 0.637000 7 505 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195711436 195711436 + RNA SNP C C G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:195711436C>G ENST00000427841.1 - 0 511 NR_003264.2 AACAGACCACCAGAGCACCCA 0.572000 10 158 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121742187 121742187 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:121742187G>A ENST00000452319.1 + 12 1884 c.1824G>A c.(1822-1824)ccG>ccA p.P608P GLI2_ENST00000361492.4_Silent_p.P608P|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Silent_p.P280P P10070 GLI2_HUMAN GLI family zinc finger 2 608 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TCCGCACACCGCTGCTCAAAG 0.652000 41 300 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 21556023 21556023 + Silent SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:21556023C>T ENST00000298925.5 + 17 1986 c.1833C>T c.(1831-1833)gaC>gaT p.D611D NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000357134.5_Silent_p.D583D|NELL1_ENST00000325319.5_Silent_p.D526D Q92832 NELL1_HUMAN NEL-like 1 (chicken) 583 EGF-like 6; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GTTTCCATGACGATGGGACCT 0.527000 63 261 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100405553 100405553 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:100405553G>A ENST00000262233.6 + 21 2350 c.2211G>A c.(2209-2211)tcG>tcA p.S737S EML1_ENST00000327921.9_Silent_p.S725S|EML1_ENST00000334192.4_Silent_p.S756S NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 737 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) CAGAAGGCTCGGACGGAACCG 0.582000 42 233 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116885 53116885 + Silent SNP A A G rs7247257 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:53116885A>G ENST00000597597.1 - 2 3186 c.933T>C c.(931-933)caT>caC p.H311H ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Silent_p.H311H P51522 ZNF83_HUMAN zinc finger protein 83 311 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TCTCTCCAGTATGAATTCTCC 0.418000 10 977 0 0 1 0 0 PRR5L 79899 broad.mit.edu 37 11 36472814 36472814 + Missense_Mutation SNP T T A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:36472814T>A ENST00000378867.3 + 9 996 c.641T>A c.(640-642)gTg>gAg p.V214E PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.V214E|PRR5L_ENST00000311599.5_Missense_Mutation_p.V141E|PRR5L_ENST00000527487.1_Intron NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 214 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 GAGGAGCTGGTGAAGCAAGTG 0.527000 69 294 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 63 189 5.80444e-35 6.21707e-35 1 1 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907458 12907458 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:12907458T>C ENST00000317869.6 - 2 910 c.685A>G c.(685-687)Atg>Gtg p.M229V NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TCTTTCTTCATGGAGCTACTG 0.458000 5 217 0 0 1 0 0 MRP63 78988 broad.mit.edu 37 13 21751133 21751133 + Silent SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr13:21751133C>T ENST00000309594.4 + 2 156 c.78C>T c.(76-78)ttC>ttT p.F26F NM_024026.4 NP_076931.1 Q9BQC6 RT63_HUMAN mitochondrial ribosomal protein 63 26 kidney(1)|lung(2)|skin(1)|urinary_tract(1) 5 all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932) GGCCGCGGTTCGTGTCGTTGC 0.662000 42 267 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 9 1755 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179397543 179397543 + Nonsense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:179397543C>T ENST00000589042.1 - 358 104023 c.103799G>A c.(103798-103800)tGg>tAg p.W34600* TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W25727*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W32032*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W32959*|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W25660*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W25535*|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32959 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) GAACTGTTCCCATCTTGAAAG 0.428000 79 161 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20787935 20787935 + Missense_Mutation SNP C C A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:20787935C>A ENST00000359062.3 + 8 1986 c.1946C>A c.(1945-1947)cCt>cAt p.P649H PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 649 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CTGAGAGAGCCTCTGAGGAAA 0.443000 29 279 1.75199e-13 1.84162e-13 1 1 0 SLC12A2 6558 broad.mit.edu 37 5 127487026 127487026 + Missense_Mutation SNP C C G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr5:127487026C>G ENST00000262461.2 + 14 2390 c.2201C>G c.(2200-2202)gCt>gGt p.A734G SLC12A2_ENST00000343225.4_Missense_Mutation_p.A734G NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 734 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) AACTGGTGGGCTGCATTGCTA 0.378000 54 319 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214815002 214815002 + Silent SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:214815002G>A ENST00000366955.3 + 12 3489 c.3321G>A c.(3319-3321)caG>caA p.Q1107Q NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1107 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AGACAGTGCAGCAAGCTCTGA 0.373000 5 367 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135390519 135390519 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr5:135390519G>A ENST00000442011.2 + 10 1540 c.1379G>A c.(1378-1380)gGc>gAc p.G460D TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 460 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding p.G460D(1) breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACTCTGGGCGGCAAAAAACTG 0.423000 6 896 0 0 1 0 0 TMEM117 84216 broad.mit.edu 37 12 44782272 44782272 + Missense_Mutation SNP G G T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:44782272G>T ENST00000266534.3 + 8 1489 c.1362G>T c.(1360-1362)caG>caT p.Q454H TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.Q350H|TMEM117_ENST00000546978.1_3'UTR NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 454 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) AAAACACCCAGGCTTCAGTAG 0.443000 14 384 8.60227e-14 9.08464e-14 1 1 0 PID1 55022 broad.mit.edu 37 2 229890591 229890591 + Silent SNP G G A rs139231184 byFrequency TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:229890591G>A ENST00000392054.3 - 4 843 c.504C>T c.(502-504)acC>acT p.T168T PID1_ENST00000409462.1_Silent_p.T88T|PID1_ENST00000354069.6_Silent_p.T170T|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.T137T NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 170 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) TGTGGTCGGCGGTGCAGTAGG 0.582000 5 429 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371685 109371685 + Missense_Mutation SNP A A T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:109371685A>T ENST00000283195.6 + 17 2562 c.2436A>T c.(2434-2436)aaA>aaT p.K812N NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 812 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTTTACTGAAAATGATTTGCC 0.348000 7 1089 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974001 49974001 + Silent SNP G G A rs148894043 byFrequency TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:49974001G>A ENST00000555099.1 + 1 59 c.27G>A c.(25-27)gaG>gaA p.E9E NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 ATGTGACAGAGTTTATTCTAT 0.299000 92 356 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72398976 72398976 + Missense_Mutation SNP A A G rs147859349 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:72398976A>G ENST00000395270.1 + 7 1322 c.281A>G c.(280-282)aAt>aGt p.N94S POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 359 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTGGTGGCCAATGGAGTCCCC 0.468000 6 1084 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 8 397 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q 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 24 162 0 0 1 0 0 NECAB1 64168 broad.mit.edu 37 8 91929840 91929840 + Nonsense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:91929840C>T ENST00000417640.2 + 6 815 c.478C>T c.(478-480)Caa>Taa p.Q160* NM_022351.4 NP_071746.1 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 160 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) TACTGAGGAGCAAACCCGTCA 0.383000 15 209 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 183017842 183017842 + Missense_Mutation SNP T T A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:183017842T>A ENST00000328913.3 - 11 1553 c.1256A>T c.(1255-1257)aAa>aTa p.K419I MCF2L2_ENST00000447025.2_Missense_Mutation_p.K419I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.K419I|MCF2L2_ENST00000473233.1_Missense_Mutation_p.K419I NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 419 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) AATGTCCCATTTTTTCTTGTT 0.458000 28 322 0 0 1 0 0 UBA7 7318 broad.mit.edu 37 3 49842859 49842859 + Missense_Mutation SNP A A T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:49842859A>T ENST00000333486.3 - 24 3079 c.2921T>A c.(2920-2922)cTg>cAg p.L974Q NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 974 ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CTGCTGAACCAGTTCTGTCAC 0.617000 94 118 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48456620 48456620 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:48456620C>T ENST00000358536.4 - 20 4200 c.3931G>A c.(3931-3933)Gca>Aca p.A1311T PLXNB1_ENST00000296440.6_Missense_Mutation_p.A1311T|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A1128T|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A1128T|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_Splice_Site NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1311 IPT/TIG 3. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGGGAACATGCCGTCTCCGGG 0.647000 5 191 0 0 1 0 0 FCN3 8547 broad.mit.edu 37 1 27697110 27697110 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:27697110C>T ENST00000270879.4 - 7 640 c.635G>A c.(634-636)gGc>gAc p.G212D FCN3_ENST00000354982.2_Missense_Mutation_p.G201D NM_003665.2 NP_003656.2 O75636 FCN3_HUMAN ficolin (collagen/fibrinogen domain containing) 3 212 Fibrinogen C-terminal. complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 7 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TGAGAACTTGCCCAGTGCCAG 0.582000 6 436 0 0 1 0 0 OSBPL5 114879 broad.mit.edu 37 11 3129166 3129166 + Nonsense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:3129166C>T ENST00000263650.7 - 8 860 c.701G>A c.(700-702)tGg>tAg p.W234* OSBPL5_ENST00000389989.3_Nonsense_Mutation_p.W166*|OSBPL5_ENST00000525498.1_Nonsense_Mutation_p.W145*|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Nonsense_Mutation_p.W166* NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 234 PH. cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GGCGTCCAGCCAGCAGCGACC 0.697000 43 58 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57764951 57764951 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:57764951C>T ENST00000360716.3 + 18 2721 c.2500C>T c.(2500-2502)Cgc>Tgc p.R834C CCDC135_ENST00000394337.4_Missense_Mutation_p.R834C|CCDC135_ENST00000336825.8_Missense_Mutation_p.R769C Q8IY82 CC135_HUMAN coiled-coil domain containing 135 834 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 GGCCATGTTCCGCATCCGCAT 0.597000 107 221 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713239 142713239 + RNA SNP T T A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:142713239T>A ENST00000369381.2 - 0 1366 TCTTCTGCATTTTCATACATC 0.383000 54 183 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157370783 157370783 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:157370783G>A ENST00000389413.3 - 17 2562 c.2459C>T c.(2458-2460)gCg>gTg p.A820V PTPRN2_ENST00000389418.4_Missense_Mutation_p.A849V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A811V|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A832V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A872V NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 849 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GCCGTTCTCCGCGAGGGGTGT 0.622000 10 139 0 0 1 0 0 HLA-G 3135 broad.mit.edu 37 6 29797288 29797288 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:29797288T>C ENST00000428701.1 + 5 891 c.713T>C c.(712-714)aTa>aCa p.I238T HLA-G_ENST00000376828.2_Missense_Mutation_p.I243T|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.I238T|HLA-G_ENST00000376818.3_Missense_Mutation_p.I146T NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 238 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 GCGGAGATCATACTGACCTGG 0.627000 5 706 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974702 21974702 + Missense_Mutation SNP T T A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:21974702T>A ENST00000304494.5 - 1 395 c.125A>T c.(124-126)aAt>aTt p.N42I CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42I|CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42I NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 42 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)|p.N42T(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) ACCGTAACTATTCGGTGCGTT 0.687000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 272 168 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 4 71 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71629120 71629120 + Missense_Mutation SNP A A G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:71629120A>G ENST00000409544.1 + 16 3362 c.2732A>G c.(2731-2733)aAt>aGt p.N911S ZNF638_ENST00000355812.3_Missense_Mutation_p.N911S|ZNF638_ENST00000264447.4_Missense_Mutation_p.N911S NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 911 RRM 2. 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 CTTGTCTCTAATTTGCCTAAT 0.269000 13 223 0 0 1 0 0 LILRA2 0 broad.mit.edu 37 19 55086932 55086932 + Missense_Mutation SNP C C T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:55086932C>T ENST00000251377.3 + 6 998 c.865C>T c.(865-867)Cac>Tac p.H289Y LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.H289Y(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GAGCCCCTCCCACGGGGGCCA 0.647000 7 502 0 0 1 0 0 NTNG2 84628 broad.mit.edu 37 9 135102349 135102349 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:135102349G>A ENST00000393229.3 + 4 1747 c.971G>A c.(970-972)cGc>cAc p.R324H NTNG2_ENST00000372179.3_Missense_Mutation_p.R324H|NTNG2_ENST00000393228.4_Missense_Mutation_p.R324H|NTNG2_ENST00000360670.3_Missense_Mutation_p.R324H NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 324 Laminin EGF-like 1. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) AAGAATTTCCGCACCCGGTCC 0.677000 15 90 0 0 1 0 0 FARP2 9855 broad.mit.edu 37 2 242373703 242373703 + Missense_Mutation SNP T T A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:242373703T>A ENST00000264042.3 + 10 1168 c.998T>A c.(997-999)gTc>gAc p.V333D FARP2_ENST00000545004.1_Missense_Mutation_p.V333D|FARP2_ENST00000373287.4_Missense_Mutation_p.V333D NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 333 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GCAAAAGCCGTCTTCTTCAGC 0.468000 52 302 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43318571 43318571 + Missense_Mutation SNP G G A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr10:43318571G>A ENST00000374518.4 + 20 3201 c.3138G>A c.(3136-3138)atG>atA p.M1046I NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1046 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.M1046I(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGTAGGGAATGTTTAATTCTG 0.393000 6 374 0 0 1 0 0 TEX19 400629 broad.mit.edu 37 17 80320465 80320465 + Missense_Mutation SNP T T C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:80320465T>C ENST00000333437.4 + 2 749 c.439T>C c.(439-441)Tgg>Cgg p.W147R NM_207459.3 NP_997342.1 Q8NA77 TEX19_HUMAN testis expressed 19 147 nucleus breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 GGGTCTTCCCTGGAGATTTGA 0.597000 79 336 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46931761 46931761 + Missense_Mutation SNP G G C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:46931761G>C ENST00000262738.3 - 1 1306 c.1307C>G c.(1306-1308)cCg>cGg p.P436R CELSR1_ENST00000395964.1_Missense_Mutation_p.P436R NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 436 Cadherin 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GAGCGGGCCCGGATTGCGCCC 0.667000 20 95 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 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) CGATGCCCCCAAGAAGAAGAAGA 0.517 12 319 --- --- --- --- RPS6KA1 6195 broad.mit.edu 37 1 26885311 26885311 + Frame_Shift_Del DEL C C - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:26885311delC ENST00000374168.2 + 14 1252 c.1098delC c.(1096-1098)atfs p.I366fs RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.I350fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.I375fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.I355fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.I274fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.I274fs NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 366 AGC-kinase C-terminal. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CCCCAGGCATCCCCCCCAGCG 0.672 8 517 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 9 890 --- --- --- --- SRSF4 6429 broad.mit.edu 37 1 29475219 29475221 + In_Frame_Del DEL CTT CTT - rs138237342 by1000genomes TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:29475219_29475221delCTT ENST00000373795.4 - 6 1420_1422 c.1186_1188delAAG c.(1186-1188)del p.K396del SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 396 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 CAGTGTCTTCCTTCTTCTTCTTC 0.601 23 708 --- --- --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 12 944 --- --- --- --- B4GALT2 8704 broad.mit.edu 37 1 44447007 44447009 + In_Frame_Del DEL AGC AGC - rs72406230 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:44447007_44447009delAGC ENST00000356836.6 + 2 965_967 c.175_177delAGC c.(175-177)del p.S65del B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 65 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CCCAGCTGCTagcagcagcagca 0.685 8 309 --- --- --- --- B4GALT2 8704 broad.mit.edu 37 1 44455987 44455988 + Frame_Shift_Ins INS - - C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:44455987_44455988insC ENST00000356836.6 + 7 1776_1777 c.986_987insC c.(985-987)aacfs p.N329fs B4GALT2_ENST00000309519.7_Frame_Shift_Ins_p.N358fs|B4GALT2_ENST00000372324.1_Frame_Shift_Ins_p.N329fs|B4GALT2_ENST00000434555.2_Frame_Shift_Ins_p.N263fs NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 329 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) AAGATTCAAAACACGAAGCTGA 0.465 7 1845 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 11 466 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 18 961 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 8 326 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183616826 183616828 + In_Frame_Del DEL TTC TTC - rs141411396 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:183616826_183616828delTTC ENST00000308641.4 - 2 1360_1362 c.1089_1091delGAA c.(1087-1092)aaa>aa p.KK363del RGL1_ENST00000367531.1_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000536277.1_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 363 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTCTTCCCTTTCTTCTTCTTCT 0.419 9 724 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 8 547 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 954 Gln-rich. snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGCATTGCGTTGCTGCTGCTGCT 0.443 7 887 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 7 342 --- --- --- --- APOB 338 broad.mit.edu 37 2 21228602 21228602 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:21228602delT ENST00000233242.1 - 26 11265 c.11138delA c.(11137-11139)acfs p.N3713fs NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3713 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCCATTGGGGTTTTTGGTGTA 0.398 8 691 --- --- --- --- BRE 9577 broad.mit.edu 37 2 28521301 28521301 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:28521301delA ENST00000344773.2 + 11 1169 c.1031delA c.(1030-1032)cafs p.Q344fs BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000342045.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 344 UEV-like 2. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) TCCCAGGCCCAAAAAAATTAT 0.448 8 788 --- --- --- --- CCDC104 112942 broad.mit.edu 37 2 55772051 55772052 + Frame_Shift_Del DEL AG AG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:55772051_55772052delAG ENST00000349456.4 + 10 1084_1085 c.936_937delAG c.(934-939)acagfs p.TE312fs CCDC104_ENST00000407816.3_Frame_Shift_Del_p.TE283fs|CCDC104_ENST00000339012.3_Frame_Shift_Del_p.TE337fs Q96G28 CC104_HUMAN coiled-coil domain containing 104 312 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AGGAAATGACAGAGAAACCAGA 0.332 13 167 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 7 337 --- --- --- --- DYSF 8291 broad.mit.edu 37 2 71801420 71801422 + In_Frame_Del DEL CCG CCG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:71801420_71801422delCCG ENST00000258104.3 + 30 3544_3546 c.3267_3269delCCG c.(3265-3270)ttc>tt p.FR1089del DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1089 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAGATGCCTTCCGCCGCCGCCGC 0.655 8 840 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 7 485 --- --- --- --- SLC9A2 6549 broad.mit.edu 37 2 103299834 103299835 + In_Frame_Ins INS - - ATCTTC TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:103299834_103299835insATCTTC ENST00000233969.2 + 4 1261_1262 c.1119_1120insATCTTC c.(1117-1122)tttctt>ttATCTTCtctt p.373_373F>LSS NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 373 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GCGAAACCTTGATCTTCATCTT 0.485 14 415 --- --- --- --- ZC3H6 376940 broad.mit.edu 37 2 113088959 113088961 + In_Frame_Del DEL GAT GAT - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:113088959_113088961delGAT ENST00000409871.1 + 12 2865_2867 c.2464_2466delGAT c.(2464-2466)del p.D825del ZC3H6_ENST00000343936.4_In_Frame_Del_p.D825del NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 825 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 CAAAAGAGGCGATGATGATGATG 0.429 7 712 --- --- --- --- BZW1 9689 broad.mit.edu 37 2 201683504 201683505 + Frame_Shift_Ins INS - - A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:201683504_201683505insA ENST00000409600.1 + 9 1301_1302 c.846_847insA c.(844-849)ataaaafs p.IK282fs BZW1_ENST00000409226.1_Frame_Shift_Ins_p.IK286fs|BZW1_ENST00000452790.2_Frame_Shift_Ins_p.IK314fs NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 282 W2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 AGGAGGAGATGAAAAAAAACAA 0.371 7 283 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660886 227660886 + Frame_Shift_Del DEL G G - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:227660886delG ENST00000305123.4 - 1 3589 c.2569delC c.(2569-2571)ggfs p.R857fs NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 857 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CTCGTGGGCCGGGCCAGGCGG 0.662 48 353 --- --- --- --- HES6 55502 broad.mit.edu 37 2 239147781 239147785 + Frame_Shift_Del DEL ACGGT ACGGT - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:239147781_239147785delACGGT ENST00000409160.3 - 3 725_729 c.593_597delACCGT c.(592-597)tfs p.YR198fs HES6_ENST00000272937.5_Frame_Shift_Del_p.TV120fs|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409002.3_Frame_Shift_Del_p.TV118fs|HES6_ENST00000409182.1_Frame_Shift_Del_p.TV91fs|HES6_ENST00000409574.1_Frame_Shift_Del_p.LPS109fs NM_001142853.1|NM_018645.4 NP_001136325.1|NP_061115.2 Q96HZ4 HES6_HUMAN hes family bHLH transcription factor 6 0 cell differentiation transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity lung(1)|skin(1) 2 Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148) CTCGGCAGCGACGGTAGCGTCGATG 0.668 9 233 --- --- --- --- KIF1A 547 broad.mit.edu 37 2 241700765 241700776 + In_Frame_Del DEL CCAGCTCACACT CCAGCTCACACT - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr2:241700765_241700776delCCAGCTCACACT ENST00000498729.2 - 24 2381_2392 c.2135_2146delAGTGTGAGCTGG c.(2134-2148)gcg>g p.ECELA712del KIF1A_ENST00000320389.7_In_Frame_Del_p.ECELA703del NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 703 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GCCCAGAGCGCCAGCTCACACTCCCGCTCTGT 0.632 30 169 --- --- --- --- CLASP2 23122 broad.mit.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:33602361delT ENST00000399362.4 - 28 3243 c.2890delA c.(2890-2892)tgfs p.M964fs CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 966 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCAGCACCCATTTTTTTTAGT 0.343 9 762 --- --- --- --- CCR1 1230 broad.mit.edu 37 3 46245502 46245502 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:46245502delA ENST00000296140.3 - 2 428 c.303delT c.(301-303)ttfs p.F101fs CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 101 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) TGGCATCACCAAAAACCCAGT 0.483 7 509 --- --- --- --- USP4 7375 broad.mit.edu 37 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:49321969_49321971delTCT ENST00000351842.4 - 17 2185_2187 c.2177_2179delAGA c.(2176-2181)acc>a p.KT726del USP4_ENST00000265560.4_In_Frame_Del_p.KT773del NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 773 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GCCACTGTGGTCTTCTTCTTCTT 0.532 7 704 --- --- --- --- MAPKAPK3 7867 broad.mit.edu 37 3 50655079 50655080 + Frame_Shift_Ins INS - - G TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:50655079_50655080insG ENST00000446044.1 + 4 679_680 c.83_84insG c.(82-84)cggfs p.R28fs MAPKAPK3_ENST00000357955.2_Frame_Shift_Ins_p.R28fs NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 28 P -> S (in a glioblastoma multiforme sample; somatic mutation). activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity p.R31fs*47(1) central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) GGCGGTGCTCCGGGGGGGCGGC 0.698 7 512 --- --- --- --- TBC1D23 55773 broad.mit.edu 37 3 100039735 100039736 + Frame_Shift_Ins INS - - A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:100039735_100039736insA ENST00000394144.4 + 18 1945_1946 c.1938_1939insA c.(1936-1941)tcaaaafs p.SK646fs TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.SK631fs|TBC1D23_ENST00000475134.1_Frame_Shift_Ins_p.SK509fs NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 646 intracellular Rab GTPase activator activity p.?(2)|p.H650fs*3(1)|p.H635fs*3(1) breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 AAATTACATCCAAAAAAAAACA 0.356 7 320 --- --- --- --- SLCO2A1 6578 broad.mit.edu 37 3 133670082 133670083 + Frame_Shift_Ins INS - - A rs141736851 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:133670082_133670083insA ENST00000310926.4 - 6 1103_1104 c.830_831insT c.(829-831)tttfs p.F277fs SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 277 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 CTCGAGGGAAGAAAAAAAAGGG 0.490 10 496 --- --- --- --- FXR1 0 broad.mit.edu 37 3 180666227 180666228 + Frame_Shift_Ins INS - - A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:180666227_180666228insA ENST00000357559.4 + 5 747_748 c.363_364insA c.(361-366)gtaaaafs p.VK121fs FXR1_ENST00000468861.1_Frame_Shift_Ins_p.VK36fs|FXR1_ENST00000445140.2_Frame_Shift_Ins_p.VK121fs|FXR1_ENST00000305586.7_Frame_Shift_Ins_p.VK36fs|FXR1_ENST00000480918.1_Frame_Shift_Ins_p.VK108fs|FXR1_ENST00000491062.1_Frame_Shift_Ins_p.VK72fs NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 121 apoptosis|cell differentiation|muscle organ development nucleolus|polysome p.N124fs*14(1) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) ATAAAACTGTCAAAAAAAATAC 0.332 7 297 --- --- --- --- ATP13A3 79572 broad.mit.edu 37 3 194147850 194147850 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr3:194147850delA ENST00000439040.1 - 29 3870 c.3079delT c.(3079-3081)ggfs p.W1027fs ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.W1027fs Q9H7F0 AT133_HUMAN ATPase type 13A3 1027 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TGTTTGACCCAAAAAAAACCC 0.383 10 340 --- --- --- --- N4BP2 55728 broad.mit.edu 37 4 40144449 40144449 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr4:40144449delA ENST00000261435.6 + 15 5358 c.4942delA c.(4942-4944)aafs p.K1649fs NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 1649 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TCGGATAGGGAAAAAAAATGT 0.398 7 363 --- --- --- --- RP11-15B17.1 0 broad.mit.edu 37 4 100912527 100912528 + RNA INS - - A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr4:100912527_100912528insA ENST00000507494.1 + 0 191 RP11-15B17.1_ENST00000501976.2_RNA CCTTCTTTGCCAAAAATGCCTG 0.475 29 179 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 7 938 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 9 1127 --- --- --- --- NOL7 51406 broad.mit.edu 37 6 13620992 13620992 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:13620992delA ENST00000451315.2 + 8 739 c.707delA c.(706-708)cafs p.Q236fs NOL7_ENST00000474485.1_3'UTR|AL441883.1_ENST00000600057.1_Frame_Shift_Del_p.W44fs NM_016167.3 NP_057251.2 Q9UMY1 NOL7_HUMAN nucleolar protein 7, 27kDa 236 mitochondrion|nucleolus p.Q239fs*7(1)|p.K238fs*16(1) breast(1)|large_intestine(3)|lung(1) 5 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.135) Epithelial(50;0.176) CTAGGAATCCAAAAAAAACAA 0.269 7 167 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 14 550 --- --- --- --- MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:29455156_29455157delAC ENST00000377127.3 - 1 581_582 c.523_524delGT c.(523-525)cfs p.V175fs NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGGAAGAGGACACACACACAC 0.495 8 326 --- --- --- --- WTAP 9589 broad.mit.edu 37 6 160163179 160163180 + Splice_Site INS - - T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr6:160163179_160163180insT ENST00000358372.4 + 4 1902 c.e4+1 SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Splice_Site NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) GATCTTAACTGTAAGTTTGAGT 0.282 44 242 --- --- --- --- PPP1R17 10842 broad.mit.edu 37 7 31735179 31735179 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:31735179delA ENST00000342032.3 + 3 807 c.179delA c.(178-180)cafs p.Q60fs PPP1R17_ENST00000409146.3_Intron NM_006658.4 NP_006649.2 O96001 GSUB_HUMAN protein phosphatase 1, regulatory subunit 17 60 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction GAGTCAGACCAAAAAAAACCA 0.438 10 869 --- --- --- --- ZNF733P 0 broad.mit.edu 37 7 62752415 62752416 + RNA INS - - C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:62752415_62752416insC ENST00000331425.6 - 0 1019_1020 NR_003952.1 GCATAGGGTTTTCTCTAGTATG 0.421 7 225 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028823 100028825 + In_Frame_Del DEL CCA CCA - rs71555278 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr7:100028823_100028825delCCA ENST00000310512.2 + 1 1570_1572 c.1182_1184delCCA c.(1180-1185)cgc>cg p.RH394del MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 394 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGAGGCCGCCACCACCACCAC 0.581 11 402 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del|DLC1_ENST00000520226.1_In_Frame_Del_p.S234del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 13 252 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 8 853 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1267_splice c.e12+1 p.L419_splice NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 419 Protein kinase. integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 4 9 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 8 76 --- --- --- --- FAM74A3 0 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 9 75 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 18 230 --- --- --- --- C10orf68 79741 broad.mit.edu 37 10 33018277 33018277 + Frame_Shift_Del DEL A A - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr10:33018277delA ENST00000375030.2 + 13 1360 c.742delA c.(742-744)aafs p.K250fs C10orf68_ENST00000375025.4_Frame_Shift_Del_p.K242fs|C10orf68_ENST00000375028.3_Frame_Shift_Del_p.K218fs Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 242 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 TTTAGAAATCAAAAAAAAGGA 0.323 7 426 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 12 506 --- --- --- --- XPOT 11260 broad.mit.edu 37 12 64812754 64812755 + Frame_Shift_Ins INS - - T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:64812754_64812755insT ENST00000332707.5 + 6 898_899 c.369_370insT c.(367-372)aattttfs p.NF123fs NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 123 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.F126fs*6(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) AGTGGCCCAAGTTTTTTTTTGA 0.441 9 366 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88566417 88566417 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:88566417delT ENST00000266712.6 + 8 1314 c.1094delT c.(1093-1095)ctfs p.L365fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 365 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GCATCGAACCTTTTTTTTCCA 0.313 7 548 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:113704096_113704098delCTG ENST00000550785.1 + 5 734_736 c.565_567delCTG c.(565-567)del p.L194del TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 122 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCACGGCCCTGCTGCTGCTGC 0.640 11 1480 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 7 517 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812693 122812694 + Frame_Shift_Ins INS - - T rs77289752 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:122812693_122812694insT ENST00000358808.2 - 16 3170_3171 c.3016_3017insA c.(3016-3018)aagfs p.K1006fs CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.K592fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.K1017fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.K971fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.K895fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.K1006fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1017 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) GTTGTGGCTTGTTTCCATTTTC 0.505 9 652 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 7 661 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 9 23 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 9 997 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138110 20138110 + RNA DEL T T - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:20138110delT ENST00000548261.1 + 0 391 GGGAACTTCCTCCACTCCTTT 0.488 24 736 --- --- --- --- PTPN21 11099 broad.mit.edu 37 14 88945628 88945630 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr14:88945628_88945630delTCC ENST00000556564.1 - 13 2429_2431 c.2145_2147delGGA c.(2143-2148)gac>ga p.ED717del PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 717 Poly-Glu. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GAAGTCCTCGTCCTCCTCCTCCT 0.704 7 166 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23333801 23333802 + RNA INS - - A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr15:23333801_23333802insA ENST00000560464.1 - 0 908 ACTTACAGTTCAAAAAAAAAAA 0.441 7 40 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65918177 65918179 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr15:65918177_65918179delCTG ENST00000261892.6 + 2 2046_2048 c.1759_1761delCTG c.(1759-1761)del p.L591del SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 591 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GTGGGAGAGCCTGCTGCTGCTGC 0.547 18 356 --- --- --- --- SNUPN 10073 broad.mit.edu 37 15 75899578 75899579 + Frame_Shift_Ins INS - - C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr15:75899578_75899579insC ENST00000371091.5 - 7 1156_1157 c.704_705insG c.(703-705)gcafs p.A235fs SNUPN_ENST00000564675.1_Frame_Shift_Ins_p.A193fs|SNUPN_ENST00000308588.5_Frame_Shift_Ins_p.A193fs|SNUPN_ENST00000567134.1_Frame_Shift_Ins_p.A193fs|SNUPN_ENST00000564644.1_Frame_Shift_Ins_p.A193fs O95149 SPN1_HUMAN snurportin 1 193 Necessary for binding to the m3G-cap structure. ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly cytosol|nuclear pore protein transporter activity|RNA cap binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1) 8 AAAAAGGGTGTCCCCGCCAGCA 0.505 7 471 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 8 1088 --- --- --- --- SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:24921737_24921739delCAG ENST00000347898.3 + 15 2383_2385 c.1761_1763delCAG c.(1759-1764)gcc>gc p.AS587del SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 587 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 8 304 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 8 573 --- --- --- --- RANBP10 57610 broad.mit.edu 37 16 67763279 67763281 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:67763279_67763281delGAG ENST00000317506.3 - 10 1369_1371 c.1254_1256delCTC c.(1252-1257)tcg>tc p.SS420del RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 420 Ser-rich. p.S418S(2) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) ggaagaggacgaggaggaggagg 0.567 7 176 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72821594 72821596 + In_Frame_Del DEL GCC GCC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr16:72821594_72821596delGCC ENST00000268489.5 - 10 11251_11253 c.10579_10581delGGC c.(10579-10581)del p.G3527del AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3527 Poly-Gly. G -> GGG. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGTGGTACGAgccgccgccgccg 0.690 8 489 --- --- --- --- AC005863.1 0 broad.mit.edu 37 17 14673542 14673543 + RNA INS - - T TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:14673542_14673543insT ENST00000379640.1 - 0 354_355 GCTGGTCCCAGTTTTTTTTTCT 0.450 9 126 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16335490 16335492 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:16335490_16335492delTGC ENST00000338560.7 + 12 2264_2266 c.1865_1867delTGC c.(1864-1869)gtg>g p.VL622del TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 622 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CGCGGCATGGTGCTGCTGCTGCT 0.596 9 224 --- --- --- --- KRTAP9-1 0 broad.mit.edu 37 17 39346425 39346427 + In_Frame_Del DEL GTG GTG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:39346425_39346427delGTG ENST00000398470.1 + 1 287_289 c.287_289delGTG c.(286-291)tgc>t p.CG96del KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice NM_001190460.1 NP_001177389.1 A8MXZ3 KRA91_HUMAN keratin associated protein 9-1 96 30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI]. keratin filament breast(1)|lung(3) 4 TCCAGCTGCTGTGGCCAAACCAG 0.606 8 97 --- --- --- --- FTSJ3 117246 broad.mit.edu 37 17 61899155 61899157 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr17:61899155_61899157delCTC ENST00000427159.2 - 15 2167_2169 c.1522_1524delGAG c.(1522-1524)del p.E508del NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 508 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCAGTGGATTCTCCTCCTCCTCC 0.537 7 932 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 7 233 --- --- --- --- LAMA3 3909 broad.mit.edu 37 18 21426313 21426313 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr18:21426313delT ENST00000313654.9 + 31 4013 c.3772delT c.(3772-3774)ttfs p.F1258fs LAMA3_ENST00000399516.3_Frame_Shift_Del_p.F1258fs NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1258 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTGGTGGCCTTTTACCACAA 0.622 7 1266 --- --- --- --- CNN2 1265 broad.mit.edu 37 19 1037646 1037646 + Frame_Shift_Del DEL C C - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:1037646delC ENST00000263097.4 + 7 1040 c.677delC c.(676-678)acfs p.T226fs CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs NM_004368.2 NP_004359.1 Q99439 CNN2_HUMAN calponin 2 226 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCCCGGGACCCGGCGGCAC 0.632 8 589 --- --- --- --- SBSN 374897 broad.mit.edu 37 19 36019046 36019047 + Frame_Shift_Del DEL CT CT - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:36019046_36019047delCT ENST00000452271.2 - 1 165_166 c.137_138delAG c.(136-138)gfs p.E46fs SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 46 extracellular region p.E46fs*27(1) large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTTGCCCACCTCTCTCTCTGC 0.579 8 937 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36054349 36054351 + In_Frame_Del DEL CTT CTT - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:36054349_36054351delCTT ENST00000262623.3 - 2 119_121 c.91_93delAAG c.(91-93)del p.K31del NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 31 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCCACCCGCCTTCTTCTTCTTG 0.601 7 1246 --- --- --- --- ZFP36 7538 broad.mit.edu 37 19 39898948 39898950 + In_Frame_Del DEL CAC CAC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:39898948_39898950delCAC ENST00000597629.1 + 2 682_684 c.608_610delCAC c.(607-612)tca>t p.SP203del ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del P26651 TTP_HUMAN ZFP36 ring finger protein 197 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGCCGGACCTCACCACCACCACC 0.685 7 1190 --- --- --- --- SCAF1 58506 broad.mit.edu 37 19 50158041 50158042 + Frame_Shift_Ins INS - - C rs149487378 by1000genomes TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:50158041_50158042insC ENST00000360565.3 + 9 3656_3657 c.3532_3533insC c.(3532-3534)cccfs p.P1178fs NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1178 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) CTGCGGTTCGACCCCCCCCACC 0.693 8 342 --- --- --- --- MIR520H 0 broad.mit.edu 37 19 54245814 54245815 + RNA INS - - A TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:54245814_54245815insA ENST00000385126.1 + 0 49_50 NR_030215.1 TGTTGTCTGAGAAAAAACAAAG 0.416 66 725 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 9 547 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 12 393 --- --- --- --- PPP1R12C 54776 broad.mit.edu 37 19 55607456 55607456 + Frame_Shift_Del DEL G G - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr19:55607456delG ENST00000263433.3 - 8 1131 c.1116delC c.(1114-1116)ccfs p.P372fs PPP1R12C_ENST00000435544.2_Frame_Shift_Del_p.P298fs|PPP1R12C_ENST00000376393.2_Frame_Shift_Del_p.P372fs NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 372 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) CGTCCTGGATGGGGGGCCCCC 0.642 7 777 --- --- --- --- ZMYND8 23613 broad.mit.edu 37 20 45875072 45875072 + Frame_Shift_Del DEL T T - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr20:45875072delT ENST00000311275.7 - 14 2157 c.1904delA c.(1903-1905)agfs p.K635fs ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 635 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) AGGCTTGGGCTTTTTTTTAAC 0.488 7 1074 --- --- --- --- TFAP2C 7022 broad.mit.edu 37 20 55212855 55212856 + Frame_Shift_Del DEL CA CA - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr20:55212855_55212856delCA ENST00000201031.2 + 7 1382_1383 c.1139_1140delCA c.(1138-1140)cfs p.P380fs TFAP2C_ENST00000544508.1_Frame_Shift_Del_p.P211fs NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 380 H-S-H (helix-span-helix), dimerization. cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) AGGCTCGCCCCAGTCTTGGAGA 0.550 129 378 --- --- --- --- AP001347.6 0 broad.mit.edu 37 21 15441192 15441193 + RNA INS - - T rs148464975 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr21:15441192_15441193insT ENST00000428809.1 + 0 177 TGTATTTTGAATTCTTGGAATT 0.361 7 377 --- --- --- --- HMGXB4 10042 broad.mit.edu 37 22 35661544 35661544 + Frame_Shift_Del DEL A A - rs76572304 TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:35661544delA ENST00000216106.5 + 5 1291 c.1163delA c.(1162-1164)gafs p.E388fs HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 388 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGGCATAGTGAaaaaaaaaag 0.493 9 226 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 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 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 8 499 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec6e4492-5846-4ef8-bfb8-0db49299854f 24e4448a-09eb-432b-aa22-61c71daa11f6 g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 7 73 --- --- --- ---