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 SMG1 23049 broad.mit.edu 37 16 18856889 18856889 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:18856889G>A ENST00000446231.2 - 39 6493 c.6081C>T c.(6079-6081)atC>atT p.I2027I SMG1_ENST00000389467.3_Silent_p.I2027I Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2027 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 GAGCCGCTGTGATACTCCTCA 0.433000 85 54 0 0 1 0 0 GNMT 27232 broad.mit.edu 37 6 42930028 42930028 + Silent SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:42930028A>G ENST00000372808.3 + 2 295 c.285A>G c.(283-285)gcA>gcG p.A95A NM_018960.4 NP_061833.1 Q14749 GNMT_HUMAN glycine N-methyltransferase 95 protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process folic acid binding|glycine binding|glycine N-methyltransferase activity kidney(2)|large_intestine(1)|lung(1) 4 Colorectal(47;0.196) all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461) Glycine(DB00145)|S-Adenosylmethionine(DB00118) TGAAGTATGCACTTAAGGAGC 0.592000 29 50 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104044225 104044225 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:104044225C>G ENST00000265148.3 - 43 7035 c.6946G>C c.(6946-6948)Gag>Cag p.E2316Q CENPE_ENST00000380026.3_Missense_Mutation_p.E2195Q NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2316 Kinetochore-binding domain. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TCCTCAAACTCTGTTGATTCA 0.333000 38 36 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236326 33236326 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:33236326G>C ENST00000401073.2 + 6 1616 c.1546G>C c.(1546-1548)Gat>Cat p.D516H KIAA1522_ENST00000373481.3_Missense_Mutation_p.D468H|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.D457H NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 457 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) AGCAGTGCCTGATGGGCCATT 0.682000 12 27 0 0 1 0 0 IGF2 3481 broad.mit.edu 37 11 2154863 2154863 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:2154863G>A ENST00000416167.2 - 3 1356 c.190C>T c.(190-192)Cgt>Tgt p.R64C IGF2_ENST00000418738.2_Missense_Mutation_p.R64C|IGF2_ENST00000381406.4_Missense_Mutation_p.R67C|IGF2_ENST00000381395.1_Missense_Mutation_p.R64C|IGF2_ENST00000381392.1_Missense_Mutation_p.R67C|IGF2_ENST00000381389.1_Missense_Mutation_p.R64C|IGF2_ENST00000300632.5_Missense_Mutation_p.R64C|IGF2_ENST00000434045.2_Missense_Mutation_p.R120C P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 64 C. glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) ACGATGCCACGGCTGCGACGG 0.662000 11 35 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51673632 51673632 + Silent SNP C C T rs139263625 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:51673632C>T ENST00000409535.2 + 12 2183 c.2058C>T c.(2056-2058)ggC>ggT p.G686G RAD54L2_ENST00000296477.3_Silent_p.G380G NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) TCCTACAGGGCGTTGGCTTCA 0.517000 8 41 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958557 53958557 + RNA SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:53958557G>A ENST00000454407.1 + 0 1249 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ATGTCACACTGGTGAGAATCC 0.413000 146 234 0 0 1 0 0 SLC27A1 376497 broad.mit.edu 37 19 17611371 17611371 + Silent SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:17611371C>G ENST00000252595.7 + 9 1498 c.1401C>G c.(1399-1401)gtC>gtG p.V467V SLC27A1_ENST00000442725.1_Silent_p.V467V|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Silent_p.V288V|CTD-3131K8.2_ENST00000596643.1_lincRNA NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 467 Sufficient for oligomerization (By similarity). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 ATGGCTATGTCAGCGAGAGCG 0.642000 16 37 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146058794 146058794 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:146058794G>A ENST00000454497.2 - 21 3075 c.2938C>T c.(2938-2940)Caa>Taa p.Q980* OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Nonsense_Mutation_p.Q1045* NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 1044 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATAAGTTTGATTATAGAAC 0.408000 73 131 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) 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) AGGCTCCAGCACCACCACCGG 0.637000 5 72 0 0 1 0 0 SNX18 112574 broad.mit.edu 37 5 53815261 53815261 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:53815261C>T ENST00000343017.6 + 1 1673 c.1479C>T c.(1477-1479)atC>atT p.I493I SNX18_ENST00000326277.3_Silent_p.I493I|SNX18_ENST00000381410.4_Silent_p.I493I NM_001145427.1 NP_001138899.1 Q96RF0 SNX18_HUMAN sorting nexin 18 493 BAR. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 18 Lung NSC(810;3.46e-05)|Breast(144;0.102) ACCAGGCTATCGCCTTCACCG 0.607000 34 56 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49643309 49643309 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:49643309C>T ENST00000334186.4 + 18 2681 c.2332C>T c.(2332-2334)Cga>Tga p.R778* PPFIA3_ENST00000602351.1_Nonsense_Mutation_p.R778* NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 778 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) AGAGAAGGGACGAATGGGACC 0.547000 47 78 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966494 41966494 + Missense_Mutation SNP G G A rs138042494 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:41966494G>A ENST00000298919.7 + 10 1521 c.1133G>A c.(1132-1134)cGa>cAa p.R378Q PDZRN4_ENST00000402685.2_Missense_Mutation_p.R638Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R380Q Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 638 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGCAAGATTCGAAATCATGGA 0.453000 64 32 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15701026 15701026 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:15701026G>A ENST00000378076.3 - 10 1273 c.920C>T c.(919-921)aCg>aTg p.T307M NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 307 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CTGAATAAACGTCATATCCGT 0.318000 12 31 0 0 1 0 0 MAGOH 4116 broad.mit.edu 37 1 53699227 53699227 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:53699227C>T ENST00000371470.3 - 3 406 c.245G>A c.(244-246)cGa>cAa p.R82Q MAGOH_ENST00000462941.1_5'UTR|MAGOH_ENST00000371466.4_Intron NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 82 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 CCGGCCCACTCGGTCAGGAGG 0.453000 88 85 0 0 1 0 0 ANKS6 203286 broad.mit.edu 37 9 101536318 101536318 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:101536318C>T ENST00000353234.4 - 9 1709 c.1662G>A c.(1660-1662)ctG>ctA p.L554L ANKS6_ENST00000540940.1_Silent_p.L359L|ANKS6_ENST00000375019.2_Silent_p.L253L|ANKS6_ENST00000375018.1_Silent_p.L554L Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain containing 6 554 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) TGACTGCTTTCAGCTTGTCAC 0.582000 15 45 0 0 1 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48874166 48874166 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:48874166A>G ENST00000394754.1 + 8 3189 c.3075A>G c.(3073-3075)atA>atG p.I1025M GTF2A1L_ENST00000430487.2_Missense_Mutation_p.I287M|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I1025M|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I1025M|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.I978M|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I1025M|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.I321M|LHCGR_ENST00000420913.3_Splice_Site NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 978 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CCAGCAACATACCTGTATCAG 0.393000 23 53 0 0 1 0 0 COPS3 8533 broad.mit.edu 37 17 17184477 17184477 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:17184477G>T ENST00000268717.5 - 1 130 c.24C>A c.(22-24)ttC>ttA p.F8L NM_003653.3 NP_003644.2 Q9UNS2 CSN3_HUMAN COP9 signalosome subunit 3 8 cullin deneddylation|response to light stimulus|signal transduction cytoplasm|signalosome protein binding NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 CACTGTTCACGAACTGCTCCA 0.706000 3 13 0.150653 0.150653 1 1 0 XPR1 9213 broad.mit.edu 37 1 180804041 180804041 + Missense_Mutation SNP T T G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:180804041T>G ENST00000367590.4 + 10 1364 c.1166T>G c.(1165-1167)gTa>gGa p.V389G XPR1_ENST00000367589.3_Missense_Mutation_p.V389G NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 389 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 TTCCATAAGGTAGGCTTTGCT 0.403000 17 98 0 0 1 0 0 ZNF217 7764 broad.mit.edu 37 20 52199284 52199284 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:52199284G>C ENST00000371471.2 - 2 507 c.82C>G c.(82-84)Ctt>Gtt p.L28V ZNF217_ENST00000302342.3_Missense_Mutation_p.L28V O75362 ZN217_HUMAN zinc finger protein 217 28 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GGACTGCCAAGAGAGCTGCCA 0.458000 41 55 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127796661 127796661 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:127796661C>G ENST00000556132.1 - 6 3374 c.2510G>C c.(2509-2511)aGc>aCc p.S837T SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000525778.1_Missense_Mutation_p.S837T|SOGA3_ENST00000368268.2_Missense_Mutation_p.S837T|SOGA3_ENST00000465909.2_Missense_Mutation_p.S837T|SOGA3_ENST00000481848.2_Missense_Mutation_p.S837T NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 837 integral to membrane GATGATGGTGCTCGTGTCGGC 0.662000 55 148 0 0 1 0 0 ADRB2 154 broad.mit.edu 37 5 148207103 148207103 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:148207103G>C ENST00000305988.4 + 1 948 c.709G>C c.(709-711)Gag>Cag p.E237Q NM_000024.5 NP_000015 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 237 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) TGACAAATCTGAGGGCCGCTT 0.547000 6 100 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457235 110457235 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:110457235G>A ENST00000378402.5 + 38 5241 c.5137G>A c.(5137-5139)Gaa>Aaa p.E1713K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1713 IPT/TIG 9. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CATTGAATGTGAAACATCCCC 0.443000 HNSCC(38;0.096) 9 283 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64960429 64960429 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:64960429G>A ENST00000399262.2 - 11 5301 c.5083C>T c.(5083-5085)Cct>Tct p.P1695S JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P1513S|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P1476S NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1695 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ACTGAACGAGGAATGCCAGCT 0.373000 8 29 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26958885 26958885 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:26958885C>T ENST00000528896.2 - 22 4123 c.4049G>A c.(4048-4050)aGt>aAt p.S1350N KIAA0100_ENST00000544884.1_Missense_Mutation_p.S1207N|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S1207N NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1350 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) ATGGCCCTGACTGCACTCAAT 0.473000 6 243 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201984345 201984345 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:201984345A>G ENST00000359651.3 + 8 4202 c.1010A>G c.(1009-1011)tAc>tGc p.Y337C ELF3_ENST00000367284.5_Missense_Mutation_p.Y337C|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.Y337C P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 337 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 AGGTACTACTACAAACGGGAG 0.597000 100 2 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578205 9578205 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:9578205G>A ENST00000301480.4 - 10 1631 c.1418C>T c.(1417-1419)tCa>tTa p.S473L NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 AATAACACCTGAGGATGTACC 0.393000 45 181 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179352577 179352577 + Splice_Site SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:179352577G>C ENST00000367618.3 + 8 1026 c.639G>C c.(637-639)atG>atC p.M213I AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Splice_Site_p.M213I NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 213 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 AATTTTTTAGGAAACCTAATA 0.368000 3 56 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120214582 120214582 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:120214582G>A ENST00000392521.2 - 14 1785 c.1730C>T c.(1729-1731)tCa>tTa p.S577L CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.S577L NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 577 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TCTTCTTGCTGAGACAAGATC 0.448000 118 54 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130923033 130923033 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:130923033G>A ENST00000261655.4 - 9 1645 c.1482C>T c.(1480-1482)acC>acT p.T494T RIMBP2_ENST00000535703.1_Silent_p.T402T|RIMBP2_ENST00000536002.1_Silent_p.T402T NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 494 Fibronectin type-III 3. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CAGCCTGGACGGTAACATCTT 0.672000 15 9 0 0 1 0 0 NXPH1 30010 broad.mit.edu 37 7 8791209 8791209 + Missense_Mutation SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:8791209T>C ENST00000405863.1 + 3 1537 c.626T>C c.(625-627)cTc>cCc p.L209P NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.L92P NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 209 V (Cys-rich). extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) AAGAACACACTCTGCAACTAT 0.413000 10 72 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28906611 28906611 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:28906611A>G ENST00000375664.4 + 13 2246 c.1637A>G c.(1636-1638)cAt>cGt p.H546R WAC_ENST00000354911.4_Missense_Mutation_p.H591R|WAC_ENST00000347934.4_Missense_Mutation_p.H488R|WAC_ENST00000375646.1_Missense_Mutation_p.H439R Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 GAAGAAGCGCATAACATGGGA 0.299000 17 29 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83035312 83035312 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:83035312C>T ENST00000307792.3 - 8 1344 c.877G>A c.(877-879)Gtt>Att p.V293I SEMA3E_ENST00000427262.1_Missense_Mutation_p.V233I NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 293 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) ACTGAGCAAACGAGTCTCGCT 0.348000 63 78 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37183592 37183592 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:37183592C>G ENST00000274258.7 - 26 4921 c.1334G>C c.(1333-1335)aGa>aCa p.R445T C5orf42_ENST00000425232.2_Missense_Mutation_p.R1564T|C5orf42_ENST00000508244.1_Missense_Mutation_p.R1564T E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1564 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) AGGTAGGTCTCTTTCAAGAAT 0.323000 20 54 0 0 1 0 0 ACVR1C 130399 broad.mit.edu 37 2 158406900 158406900 + Silent SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:158406900T>C ENST00000243349.8 - 4 909 c.549A>G c.(547-549)ctA>ctG p.L183L ACVR1C_ENST00000409680.3_Silent_p.L133L|ACVR1C_ENST00000335450.7_Silent_p.L103L|ACVR1C_ENST00000348328.5_Intron NM_001111032.1|NM_145259.2 NP_001104502.1|NP_660302.2 Q8NER5 ACV1C_HUMAN activin A receptor, type IC GS. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 CCAACAGAGGTAGACCTAACC 0.368000 61 32 0 0 1 0 0 SPA17 53340 broad.mit.edu 37 11 124561605 124561605 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:124561605C>A ENST00000532692.1 + 3 1660 c.239C>A c.(238-240)cCt>cAt p.P80H SIAE_ENST00000525730.1_Intron|SPA17_ENST00000227135.2_Missense_Mutation_p.P80H|SPA17_ENST00000524614.1_3'UTR Q15506 SP17_HUMAN sperm autoantigenic protein 17 80 binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis cytoplasm|flagellum|membrane|motile cilium|primary cilium cAMP-dependent protein kinase regulator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 5 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223) CAAGAACCACCTGAGAAAAGT 0.378000 49 32 9.52127e-25 1.06594e-24 1 1 0 STIL 6491 broad.mit.edu 37 1 47753284 47753284 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:47753284C>T ENST00000360380.3 - 11 1435 c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K STIL_ENST00000243182.6_Missense_Mutation_p.E358K|STIL_ENST00000371877.3_Missense_Mutation_p.E358K|STIL_ENST00000337817.5_Missense_Mutation_p.E358K|STIL_ENST00000396221.2_Missense_Mutation_p.E358K NM_001282936.1 NP_001269865.1 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 358 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TTTTGGCTTTCAGCGCTCAGT 0.333000 25 26 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42954704 42954704 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:42954704C>G ENST00000541208.1 + 4 532 c.163C>G c.(163-165)Cta>Gta p.L55V KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000328199.6_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.L55V Q6ZS27 ZN662_HUMAN zinc finger protein 662 55 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) ATATCCATTTCTAAAGCCTGC 0.498000 16 56 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65271458 65271458 + RNA SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:65271458G>C ENST00000534336.1 + 0 6226 NR_002819.2 ACAGTGATTAGAGTAATACTT 0.323000 7 15 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 15978045 15978045 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:15978045G>T ENST00000262101.5 - 9 1225 c.1104C>A c.(1102-1104)agC>agA p.S368R MSR1_ENST00000355282.2_Intron|MSR1_ENST00000350896.3_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.S386R P21757 MSRE_HUMAN macrophage scavenger receptor 1 368 SRCR. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CCCACTGGCCGCTGTGGAGTA 0.517000 49 10 1.61004e-24 1.79725e-24 1 1 0 MFI2 4241 broad.mit.edu 37 3 196753550 196753550 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:196753550C>T ENST00000296350.5 - 3 398 c.285G>A c.(283-285)gtG>gtA p.V95V MFI2_ENST00000296351.4_Silent_p.V95V NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 95 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) ACACTTCGCCCACCACCGGCT 0.622000 16 77 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117683989 117683989 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:117683989G>C ENST00000368508.3 - 21 3356 c.3158C>G c.(3157-3159)cCa>cGa p.P1053R GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1048R NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1053 Fibronectin type-III 5. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTTTCCACTTGGTAATATAAA 0.348000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 13 55 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65272832 65272832 + RNA SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:65272832G>A ENST00000534336.1 + 0 7600 NR_002819.2 TGAAGCATCCGAAGGAATGCT 0.423000 21 42 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24803020 24803020 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:24803020G>A ENST00000395799.3 + 6 3186 c.3057G>A c.(3055-3057)gtG>gtA p.V1019V TNRC6A_ENST00000315183.7_Silent_p.V1019V NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1019 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) ACAAAAATGTGAACATGTGGA 0.468000 11 93 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65272679 65272679 + RNA SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:65272679G>A ENST00000534336.1 + 0 7447 NR_002819.2 TAAAGGCACCGAAGGCTTAAA 0.502000 24 48 0 0 1 0 0 MPP2 4355 broad.mit.edu 37 17 41957217 41957217 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:41957217G>A ENST00000269095.4 - 11 1590 c.1286C>T c.(1285-1287)aCa>aTa p.T429I MPP2_ENST00000461854.1_Missense_Mutation_p.T453I|MPP2_ENST00000523501.1_Missense_Mutation_p.T418I|MPP2_ENST00000377184.3_Missense_Mutation_p.T446I|MPP2_ENST00000536246.1_Missense_Mutation_p.T418I|MPP2_ENST00000518766.1_Missense_Mutation_p.T474I|MPP2_ENST00000520305.1_Missense_Mutation_p.T290I NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 453 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) GTCAATACGTGTGCCATACAG 0.627000 OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 78 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196250089 196250089 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:196250089G>A ENST00000367433.5 - 24 2840 c.2739C>T c.(2737-2739)atC>atT p.I913I KCNT2_ENST00000367431.4_Silent_p.I863I|KCNT2_ENST00000609185.1_Silent_p.I863I|KCNT2_ENST00000294725.9_Silent_p.I937I|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR NM_198503.2 NP_940905.2 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 937 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CATAAGTTCTGATCCATAAGT 0.348000 91 2 0 0 1 0 0 CLK4 57396 broad.mit.edu 37 5 178050303 178050303 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:178050303C>T ENST00000316308.4 - 2 283 c.115G>A c.(115-117)Gag>Aag p.E39K CLK4_ENST00000520957.1_Missense_Mutation_p.E39K NM_020666.2 NP_065717.1 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 39 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E39Q(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2) 21 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.235) TGCCTGTTCTCTTGTGTGCTA 0.388000 55 53 0 0 1 0 0 TUBA1C 84790 broad.mit.edu 37 12 49666750 49666750 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:49666750C>A ENST00000301072.6 + 4 1365 c.1090C>A c.(1090-1092)Cct>Act p.P364T RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Missense_Mutation_p.P434T NM_032704.3 NP_116093.1 Q9BQE3 TBA1C_HUMAN tubulin, alpha 1c 364 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1) 13 CACTGTGGTGCCTGGCGGAGA 0.562000 74 48 1.15062e-32 1.30336e-32 1 1 0 PLEC 5339 broad.mit.edu 37 8 144992886 144992886 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:144992886C>G ENST00000322810.4 - 32 11683 c.11514G>C c.(11512-11514)agG>agC p.R3838S PLEC_ENST00000357649.2_Missense_Mutation_p.R3705S|PLEC_ENST00000436759.2_Missense_Mutation_p.R3728S|PLEC_ENST00000527096.1_Missense_Mutation_p.R3724S|PLEC_ENST00000354958.2_Missense_Mutation_p.R3679S|PLEC_ENST00000345136.3_Missense_Mutation_p.R3701S|PLEC_ENST00000356346.3_Missense_Mutation_p.R3687S|PLEC_ENST00000354589.3_Missense_Mutation_p.R3701S|PLEC_ENST00000398774.2_Missense_Mutation_p.R3669S NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3838 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCAGTGTCTGCCTGGAACCGG 0.662000 22 88 0 0 1 0 0 PIGF 5281 broad.mit.edu 37 2 46815287 46815287 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:46815287C>G ENST00000306465.4 - 6 680 c.578G>C c.(577-579)aGa>aCa p.R193T PIGF_ENST00000281382.6_Intron NM_173074.2 NP_775097.1 Q07326 PIGF_HUMAN phosphatidylinositol glycan anchor biosynthesis, class F 0 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ethanolaminephosphotransferase activity breast(1)|endometrium(1)|lung(1)|stomach(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) atggagagatctataagtgct 0.383000 15 64 0 0 1 0 0 SRPR 6734 broad.mit.edu 37 11 126135303 126135303 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:126135303C>G ENST00000332118.6 - 10 1325 c.1171G>C c.(1171-1173)Gag>Cag p.E391Q SRPR_ENST00000532259.1_Missense_Mutation_p.E363Q NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 391 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) ACCAGGGACTCCTGTAGGGCT 0.557000 49 31 0 0 1 0 0 CEBPB 1051 broad.mit.edu 37 20 48808576 48808576 + Nonsense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:48808576G>T ENST00000303004.3 + 1 1201 c.1006G>T c.(1006-1008)Gag>Tag p.E336* NM_005194.3 NP_005185.2 P17676 CEBPB_HUMAN CCAAT/enhancer binding protein (C/EBP), beta 336 acute-phase response|immune response sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|lung(1) 2 BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19) GCAGCTGCCCGAGCCCCTGCT 0.746000 6 8 3.59834e-05 3.71441e-05 1 1 0 ISM1 140862 broad.mit.edu 37 20 13251266 13251266 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:13251266G>T ENST00000262487.4 + 2 260 c.254G>T c.(253-255)cGa>cTa p.R85L TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 CCCAGACCGCGATTCCGACAA 0.507000 3 50 0.004672 0.00474616 1 1 0 EPHA5 2044 broad.mit.edu 37 4 66356360 66356360 + Silent SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:66356360C>A ENST00000273854.3 - 5 1737 c.1137G>T c.(1135-1137)ccG>ccT p.P379P EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Silent_p.P379P|EPHA5_ENST00000511294.1_Silent_p.P379P NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 379 Fibronectin type-III 1. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TGTCAGCAGGCGGAATCCATT 0.458000 TSP Lung(17;0.13) 9 47 0.000274275 0.000280858 1 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 3 61 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20786637 20786637 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:20786637C>A ENST00000359062.3 + 7 1811 c.1771C>A c.(1771-1773)Cca>Aca p.P591T PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 591 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) CTGTGGCAGACCATATTCCCA 0.418000 18 27 2.48551e-13 2.67348e-13 1 1 0 IL18RAP 8807 broad.mit.edu 37 2 103063657 103063657 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:103063657G>C ENST00000264260.2 + 10 1789 c.1200G>C c.(1198-1200)caG>caC p.Q400H IL18RAP_ENST00000409369.1_Missense_Mutation_p.Q258H NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 400 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GCAAGGATCAGACGCTTGGGG 0.557000 225 180 0 0 1 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18142726 18142726 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:18142726G>C ENST00000435364.3 + 5 1286 c.945G>C c.(943-945)ttG>ttC p.L315F CSRP2BP_ENST00000377681.3_Missense_Mutation_p.L314F|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.L187F NM_020536.4 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 TTTCCTCCTTGAGCTCCTCTG 0.527000 101 230 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29161248 29161248 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:29161248G>C ENST00000321990.4 + 2 527 c.149G>C c.(148-150)aGa>aCa p.R50T NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 50 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GGGAAGACTAGAGACAGGGTT 0.368000 31 89 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179617850 179617850 + Splice_Site SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:179617850C>A ENST00000589042.1 - 47 11536 c.e47+1 TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Splice_Site|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 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) TATAACAATACCTTTCATTTC 0.294000 5 12 1.23904e-05 1.28246e-05 1 1 0 OPN1SW 611 broad.mit.edu 37 7 128415628 128415628 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:128415628G>C ENST00000249389.2 - 1 216 c.217C>G c.(217-219)Ctg>Gtg p.L73V NM_001708.2 NP_001699.1 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 73 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1) 19 ACGTTGACCAGAATGTAGTTG 0.537000 174 41 0 0 1 0 0 KIAA0141 9812 broad.mit.edu 37 5 141309811 141309811 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:141309811C>T ENST00000432126.2 + 7 860 c.726C>T c.(724-726)ctC>ctT p.L242L KIAA0141_ENST00000194118.4_Silent_p.L242L NM_001142603.1|NM_014773.3 NP_001136075.1|NP_055588.3 Q14154 DELE_HUMAN KIAA0141 242 apoptosis|regulation of caspase activity mitochondrion protein binding endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3) 16 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCCAGCTCAGTGTTTCCA 0.473000 11 24 0 0 1 0 0 RBM39 9584 broad.mit.edu 37 20 34292504 34292504 + Splice_Site SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:34292504C>G ENST00000361162.6 - 17 1859 c.e17-1 RBM39_ENST00000407261.4_Splice_Site|RBM39_ENST00000253363.6_Splice_Site|RBM39_ENST00000528062.3_Splice_Site NM_004902.3|NM_184234.2 NP_004893.1|NP_909122.1 Q14498 RBM39_HUMAN RNA binding motif protein 39 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) ATCATTTTACCTATTAAAAGA 0.378000 80 117 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16359942 16359942 + Missense_Mutation SNP A A C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:16359942A>C ENST00000354981.2 - 19 2862 c.2705T>G c.(2704-2706)cTg>cGg p.L902R KIF16B_ENST00000355755.3_Missense_Mutation_p.L902R|KIF16B_ENST00000378003.2_Missense_Mutation_p.L128R|KIF16B_ENST00000408042.1_Missense_Mutation_p.L902R NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 902 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TTTATATTGCAGCCTGTACTC 0.433000 83 70 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150479406 150479406 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:150479406G>A ENST00000369064.3 + 18 2057 c.2023G>A c.(2023-2025)Gag>Aag p.E675K TARS2_ENST00000606933.1_Missense_Mutation_p.E593K|TARS2_ENST00000369054.2_Missense_Mutation_p.E545K NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 675 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TGGCCAGAAAGAGCAAAGTAA 0.507000 29 188 0 0 1 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49377076 49377076 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:49377076G>A ENST00000200453.5 + 2 855 c.586G>A c.(586-588)Gaa>Aaa p.E196K NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 196 Glu-rich. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding p.E196K(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) GGAGGACGATGAAGAAGCTGT 0.532000 7 129 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647365 20647365 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:20647365G>A ENST00000272233.4 + 1 531 c.139G>A c.(139-141)Gag>Aag p.E47K NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 47 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GGCCGACATTGAGGTGGACGG 0.647000 28 101 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43484767 43484767 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:43484767G>A ENST00000395891.2 + 11 2601 c.1996G>A c.(1996-1998)Ggg>Agg p.G666R HECW1_ENST00000453890.1_Missense_Mutation_p.G666R NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CAGGCAAGGCGGGGACCACAG 0.692000 10 78 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52601629 52601629 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:52601629C>T ENST00000374001.2 - 4 497 c.358G>A c.(358-360)Gaa>Aaa p.E120K A1CF_ENST00000373993.1_Missense_Mutation_p.E120K|A1CF_ENST00000395495.1_Missense_Mutation_p.E120K|A1CF_ENST00000373997.3_Missense_Mutation_p.E120K|A1CF_ENST00000373995.3_Missense_Mutation_p.E128K|A1CF_ENST00000282641.2_Missense_Mutation_p.E120K|A1CF_ENST00000395489.2_Missense_Mutation_p.E113K Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor RRM 1. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TACCTAATTTCATAATTATTA 0.318000 13 36 0 0 1 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135761777 135761777 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:135761777G>A ENST00000250617.6 - 16 2952 c.1747C>T c.(1747-1749)Cct>Tct p.P583S ARHGEF6_ENST00000370620.1_Missense_Mutation_p.P429S|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.P429S|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.P456S NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 583 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) ATAATTTGAGGAGGCTCCAAG 0.473000 7 143 0 0 1 0 0 TTLL3 26140 broad.mit.edu 37 3 9862298 9862298 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:9862298C>G ENST00000547186.1 + 7 814 c.598C>G c.(598-600)Ctg>Gtg p.L200V TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000383827.1_5'UTR|TTLL3_ENST00000455274.1_5'UTR|TTLL3_ENST00000430793.1_5'UTR|TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.L343V|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.L261V NM_001025930.3 NP_001021100.3 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 200 TTL. axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) GGATGAAGCTCTGTGTGCGTG 0.582000 66 202 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763532 77763532 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:77763532C>T ENST00000521891.2 + 10 4823 c.4375C>T c.(4375-4377)Cta>Tta p.L1459L ZFHX4_ENST00000050961.6_Silent_p.L1414L|ZFHX4_ENST00000455469.2_Silent_p.L1414L|ZFHX4_ENST00000518282.1_Silent_p.L1433L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1414 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACTTCAACAGCTATATGCCTC 0.493000 HNSCC(33;0.089) 13 38 0 0 1 0 0 RTN2 6253 broad.mit.edu 37 19 45996515 45996515 + Silent SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:45996515G>T ENST00000590526.1 - 5 1240 c.114C>A c.(112-114)ccC>ccA p.P38P PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'UTR|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000245923.4_Silent_p.P312P O75298 RTN2_HUMAN reticulon 2 312 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) CAGGAGTAGGGGGGGTGGGGC 0.562000 28 234 5.61819e-17 6.14639e-17 1 1 0 WNT2 7472 broad.mit.edu 37 7 116960744 116960744 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:116960744G>A ENST00000265441.3 - 2 486 c.187C>T c.(187-189)Cgt>Tgt p.R63C AC002465.2_ENST00000436097.1_RNA NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 63 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CTAATGGCACGCATCACATCT 0.607000 35 6 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186270756 186270756 + Missense_Mutation SNP T T A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:186270756T>A ENST00000445192.2 + 4 277 c.232T>A c.(232-234)Ttc>Atc p.F78I PRG4_ENST00000367486.3_Missense_Mutation_p.F78I|PRG4_ENST00000367485.4_Missense_Mutation_p.F78I|PRG4_ENST00000367484.3_Missense_Mutation_p.F37I|PRG4_ENST00000367483.4_Missense_Mutation_p.F37I NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 78 SMB 2. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity 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 CTTTGAGTCCTTCGAGAGAGG 0.483000 115 0 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112050172 112050172 + Missense_Mutation SNP T T C rs112483486 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:112050172T>C ENST00000357685.5 + 2 395 c.260T>C c.(259-261)aTt>aCt p.I87T BCO2_ENST00000531169.1_Missense_Mutation_p.I53T|BCO2_ENST00000438022.1_Missense_Mutation_p.I53T|BCO2_ENST00000361053.4_Missense_Mutation_p.I87T|BCO2_ENST00000526088.1_Missense_Mutation_p.I53T|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000525468.1_Intron|AP002884.3_ENST00000532612.1_Missense_Mutation_p.I58T|BCO2_ENST00000393032.2_Missense_Mutation_p.I53T|SDHD_ENST00000532699.1_Intron Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 87 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 CTACTTCGAATTGGACCTGGG 0.493000 4 97 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26958634 26958634 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:26958634G>A ENST00000528896.2 - 23 4236 c.4162C>T c.(4162-4164)Cag>Tag p.Q1388* KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.Q1245*|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.Q1245* NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1388 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) ACGGTCACCTGACTTAGGTCA 0.527000 25 83 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33291368 33291368 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr14:33291368C>T ENST00000280979.4 + 13 4519 c.4349C>T c.(4348-4350)aCc>aTc p.T1450I AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1450 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ACCAAACATACCCCTGACTGT 0.373000 30 28 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127697960 127697960 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:127697960G>C ENST00000368695.1 + 11 1095 c.973G>C c.(973-975)Gaa>Caa p.E325Q FANK1_ENST00000368693.1_Missense_Mutation_p.E331Q|FANK1_ENST00000477963.1_3'UTR NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 331 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) CTCCTTATTAGAAGAAAGGAA 0.413000 19 51 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61836204 61836204 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:61836204C>T ENST00000280772.2 - 37 4626 c.4435G>A c.(4435-4437)Gaa>Aaa p.E1479K ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTACTCCGTTCAACTGTTTCT 0.378000 30 10 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50905324 50905324 + Missense_Mutation SNP G G T rs140707092 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:50905324G>T ENST00000440232.2 + 5 585 c.532G>T c.(532-534)Ggg>Tgg p.G178W POLD1_ENST00000599857.1_Missense_Mutation_p.G178W|POLD1_ENST00000595904.1_Missense_Mutation_p.G178W NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 178 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GGACAGTCGCGGGGGGAGGGA 0.672000 DNA polymerases (catalytic subunits) 49 53 8.72198e-27 9.82182e-27 1 1 0 ZNF721 170960 broad.mit.edu 37 4 436965 436965 + Missense_Mutation SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:436965T>C ENST00000338977.5 - 2 1303 c.1255A>G c.(1255-1257)Aac>Gac p.N419D ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.N431D zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 TCATTCAGGTTTGTGGACAAT 0.373000 6 44 0 0 1 0 0 CKS1B 1163 broad.mit.edu 37 1 154951211 154951211 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:154951211C>T ENST00000368439.1 + 3 399 c.150C>T c.(148-150)atC>atT p.I50I CKS1B_ENST00000308987.5_Silent_p.I66I|CKS1B_ENST00000471245.1_3'UTR P61024 CKS1_HUMAN CDC28 protein kinase regulatory subunit 1B 66 cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle nucleoplasm cyclin-dependent protein kinase regulator activity|protein binding breast(1)|large_intestine(1)|lung(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) AACCTCACATCTTGCTGTTCC 0.458000 48 3 0 0 1 0 0 PSMB8 5696 broad.mit.edu 37 6 32809989 32809989 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:32809989C>A ENST00000374881.2 - 4 736 c.447G>T c.(445-447)aaG>aaT p.K149N PSMB8_ENST00000374882.3_Missense_Mutation_p.K153N|PSMB8_ENST00000395339.3_Missense_Mutation_p.K129N NM_004159.4 NP_004150.1 P28062 PSB8_HUMAN proteasome (prosome, macropain) subunit, beta type, 8 153 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 11 TGGACAGCAGCTTGGAGGCTG 0.522000 48 47 2.56175e-15 2.79463e-15 1 1 0 PHLDB2 90102 broad.mit.edu 37 3 111664202 111664202 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:111664202G>C ENST00000431670.2 + 9 2896 c.2485G>C c.(2485-2487)Gag>Cag p.E829Q PHLDB2_ENST00000393923.3_Missense_Mutation_p.E813Q|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E786Q|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E415Q|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E829Q|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E786Q NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 829 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TACTTTAAAAGAGGTAAGCTA 0.348000 27 20 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:56478854G>T ENST00000267101.3 + 3 750 c.310G>T c.(310-312)Gtg>Ttg p.V104L ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45L|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104L NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 104 V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.V104M(7)|p.V104L(2) central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAACCTCCGCGTGGTGCGAGG 0.517000 94 70 1.00155e-58 1.16898e-58 1 1 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:7577085C>T ENST00000420246.2 - 8 985 c.853G>A c.(853-855)Gag>Aag p.E285K TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 285 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTCTTCCTCTGTGCGCCGG 0.562000 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) 73 2 0 0 1 0 0 PRKAB1 5564 broad.mit.edu 37 12 120106160 120106160 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:120106160G>A ENST00000229328.5 + 1 603 c.111G>A c.(109-111)ctG>ctA p.L37L PRKAB1_ENST00000541640.1_Silent_p.L37L NM_006253.4 NP_006244.2 Q9Y478 AAKB1_HUMAN protein kinase, AMP-activated, beta 1 non-catalytic subunit 37 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol p.L37L(1) endometrium(2)|large_intestine(3)|lung(5) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) CCAAGATCCTGATGGACAGCC 0.647000 27 15 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11002842 11002842 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:11002842C>G ENST00000381835.5 + 10 983 c.862C>G c.(862-864)Cta>Gta p.L288V CIITA_ENST00000537380.1_Intron|CIITA_ENST00000324288.8_Intron P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 0 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CCATTAAGGTCTAGCCTGGTC 0.567000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 30 19 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516673 140516673 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:140516673G>A ENST00000231134.5 + 1 1874 c.1657G>A c.(1657-1659)Gcc>Acc p.A553T NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 553 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGCTGGACGCCAACGACAA 0.716000 23 56 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3304269 3304269 + Missense_Mutation SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:3304269T>C ENST00000219596.1 - 2 838 c.799A>G c.(799-801)Aca>Gca p.T267A MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 267 T -> I (in arFMF). inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) TTCGCAGCTGTCTTTTCCTCT 0.572000 6 240 0 0 1 0 0 NOX4 50507 broad.mit.edu 37 11 89184974 89184974 + Silent SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:89184974A>G ENST00000535633.1 - 3 481 c.171T>C c.(169-171)gcT>gcC p.A57A NOX4_ENST00000542487.1_Silent_p.A57A|NOX4_ENST00000263317.4_Silent_p.A81A|NOX4_ENST00000527956.1_Silent_p.A57A|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000534731.1_Silent_p.A81A|NOX4_ENST00000424319.1_Silent_p.A57A|NOX4_ENST00000525196.1_Silent_p.A81A|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Silent_p.A102A|NOX4_ENST00000343727.5_Silent_p.A57A|NOX4_ENST00000528341.1_Silent_p.A56A|NOX4_ENST00000532825.1_Silent_p.A57A|NOX4_ENST00000531342.1_Intron NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 81 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CTCGGAGGTAAGCCAAGAGTG 0.408000 13 90 0 0 1 0 0 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:137328351C>A ENST00000540193.1 + 9 1912 c.989C>A c.(988-990)tCc>tAc p.S330Y RXRA_ENST00000481739.1_Missense_Mutation_p.S427Y|RXRA_ENST00000356384.4_3'UTR P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607000 73 47 5.05997e-48 5.87017e-48 1 1 0 CDH8 1006 broad.mit.edu 37 16 61747750 61747750 + Missense_Mutation SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:61747750T>C ENST00000577390.1 - 10 2603 c.1649A>G c.(1648-1650)aAt>aGt p.N550S CDH8_ENST00000299345.6_Missense_Mutation_p.N550S|CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000577730.1_Missense_Mutation_p.N550S NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 550 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTTACCTTCATTTTTCTTGAT 0.308000 8 18 0 0 1 0 0 EFEMP1 2202 broad.mit.edu 37 2 56144828 56144828 + Nonsense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:56144828G>C ENST00000394555.2 - 4 924 c.489C>G c.(487-489)taC>taG p.Y163* EFEMP1_ENST00000355426.3_Nonsense_Mutation_p.Y163*|EFEMP1_ENST00000424836.2_Nonsense_Mutation_p.Y105*|EFEMP1_ENST00000394554.1_Nonsense_Mutation_p.Y163* NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 163 negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CACTTTGCTCGTAGCCTGCTG 0.507000 58 225 0 0 1 0 0 LAMP1 3916 broad.mit.edu 37 13 113975875 113975875 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr13:113975875C>T ENST00000332556.4 + 8 1141 c.947C>T c.(946-948)cCt>cTt p.P316L LAMP1_ENST00000397181.3_Missense_Mutation_p.P263L NM_005561.3 NP_005552.3 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 316 Second lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2) 16 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) GTTGCAGACCCTGCCTTTAAA 0.637000 90 50 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803738 1803738 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:1803738G>A ENST00000340107.4 + 7 1172 c.916G>A c.(916-918)Gtt>Att p.V306I FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.V306I|FGFR3_ENST00000412135.2_Missense_Mutation_p.V306I|FGFR3_ENST00000352904.1_Missense_Mutation_p.V306I|FGFR3_ENST00000260795.2_Missense_Mutation_p.V306I|FGFR3_ENST00000440486.2_Missense_Mutation_p.V306I NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 306 Ig-like C2-type 3. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CACACCCTACGTTACCGTGCT 0.667000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 5 10 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77637928 77637928 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:77637928G>C ENST00000461745.1 + 17 3427 c.2527G>C c.(2527-2529)Gaa>Caa p.E843Q ROBO2_ENST00000487694.3_Missense_Mutation_p.E859Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.E843Q NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 843 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TGTCATTACTGAAAACAATAA 0.373000 45 57 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65272398 65272398 + RNA SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:65272398G>A ENST00000534336.1 + 0 7166 NR_002819.2 TAAATGTGGGGATTGGGAACC 0.403000 7 26 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57864227 57864227 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:57864227C>T ENST00000228682.2 + 12 1795 c.1704C>T c.(1702-1704)ggC>ggT p.G568G GLI1_ENST00000546141.1_Silent_p.G527G|GLI1_ENST00000543426.1_Silent_p.G440G NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 568 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) TCCCCCCTGGCTCCCCACCAG 0.622000 23 100 0 0 1 0 0 TCP11L1 55346 broad.mit.edu 37 11 33078731 33078731 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:33078731G>T ENST00000334274.4 + 4 767 c.367G>T c.(367-369)Gat>Tat p.D123Y TCP11L1_ENST00000531632.2_Missense_Mutation_p.D123Y|TCP11L1_ENST00000530171.1_Intron|TCP11L1_ENST00000432887.1_Missense_Mutation_p.D123Y NM_018393.3 NP_060863.3 Q9NUJ3 T11L1_HUMAN t-complex 11, testis-specific-like 1 123 kidney(1)|liver(2)|lung(2)|skin(1) 6 GCTAAGTGAAGATCCCCCAGC 0.433000 70 181 3.94896e-32 4.46001e-32 1 1 0 RTN4IP1 84816 broad.mit.edu 37 6 107040127 107040127 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:107040127C>A ENST00000369063.3 - 6 1183 c.718G>T c.(718-720)Gcc>Tcc p.A240S RTN4IP1_ENST00000539449.1_Intron NM_032730.4 NP_116119.2 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 240 mitochondrion oxidoreductase activity|zinc ion binding breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) AGTTCACTGGCATCTTGGGAG 0.398000 56 47 1.86277e-20 2.05547e-20 1 1 0 TANK 10010 broad.mit.edu 37 2 162088031 162088031 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:162088031C>A ENST00000392749.2 + 7 1309 c.1070C>A c.(1069-1071)tCc>tAc p.S357Y AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.S357Y|TANK_ENST00000259075.2_Missense_Mutation_p.S357Y|TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000421122.2_RNA NM_001199135.1 NP_001186064.1 Q92844 TANK_HUMAN TRAF family member-associated NFKB activator 357 cytosol metal ion binding|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1) 21 TCACTCGATTCCCCGGGAAAA 0.428000 55 65 7.22619e-39 8.30795e-39 1 1 0 GLRA3 8001 broad.mit.edu 37 4 175749928 175749928 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:175749928G>A ENST00000274093.3 - 1 537 c.35C>T c.(34-36)tCg>tTg p.S12L GLRA3_ENST00000340217.5_Missense_Mutation_p.S12L NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 12 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.S12L(1) endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GTAAAATCCCGAAACTAATGT 0.458000 21 29 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1524940 1524940 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:1524940G>C ENST00000389470.4 - 24 3627 c.3628C>G c.(3628-3630)Ctg>Gtg p.L1210V INTS1_ENST00000404767.3_Missense_Mutation_p.L1048V Q8N201 INT1_HUMAN integrator complex subunit 1 1048 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TGCAGGGCCAGGGCTGTGGTG 0.687000 14 89 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11338883 11338883 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:11338883C>T ENST00000315872.6 - 24 3376 c.2928G>A c.(2926-2928)agG>agA p.R976R ROCK2_ENST00000401753.1_Silent_p.R733R NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 976 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TAGTTAGTGTCCTATTAGTTT 0.279000 11 33 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36693884 36693884 + Splice_Site SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:36693884G>A ENST00000399881.3 + 13 1402 c.e13+1 NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CCATAACAAGGTATAGTAACA 0.333000 3 21 0 0 1 0 0 ELP2 55250 broad.mit.edu 37 18 33744590 33744590 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:33744590G>A ENST00000358232.6 + 18 1977 c.1914G>A c.(1912-1914)tgG>tgA p.W638* ELP2_ENST00000351393.6_Nonsense_Mutation_p.W612*|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Nonsense_Mutation_p.W633*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.W568*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.W703*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.W568* NM_018255.2 NP_060725.1 Q6IA86 ELP2_HUMAN elongator acetyltransferase complex subunit 2 638 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2) 30 ATCGAACCTGGTCATTGTGGA 0.398000 29 32 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51264853 51264853 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:51264853G>A ENST00000266037.9 + 16 1540 c.1517G>A c.(1516-1518)cGc>cAc p.R506H NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 506 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TCCCACCTGCGCTTTGAGTTC 0.468000 82 103 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65267925 65267925 + RNA SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:65267925C>A ENST00000534336.1 + 0 2693 NR_002819.2 GACAGGATTCCAGGAACCAGT 0.473000 21 51 1.50039e-11 1.60042e-11 1 1 0 GTPBP8 29083 broad.mit.edu 37 3 112710056 112710056 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:112710056C>T ENST00000383677.3 + 1 225 c.210C>T c.(208-210)atC>atT p.I70I GTPBP8_ENST00000383678.2_Silent_p.I70I NM_138485.1 NP_612494.1 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 (putative) 70 barrier septum formation GTP binding kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 6 ACCTGCGTATCTTTGACCCAA 0.622000 25 48 0 0 1 0 0 C12orf66 144577 broad.mit.edu 37 12 64588164 64588164 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:64588164G>A ENST00000311915.8 - 3 823 c.796C>T c.(796-798)Ctt>Ttt p.L266F C12orf66_ENST00000544871.1_Missense_Mutation_p.L213F|C12orf66_ENST00000398055.3_Missense_Mutation_p.L266F Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 266 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 AACTTGGCAAGAAGCATGTTT 0.463000 43 109 0 0 1 0 0 TRAPPC13 80006 broad.mit.edu 37 5 64954221 64954221 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:64954221G>C ENST00000399438.3 + 9 936 c.591G>C c.(589-591)caG>caC p.Q197H TRAPPC13_ENST00000505553.1_Missense_Mutation_p.Q191H|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.Q197H|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.Q198H|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.Q191H NM_001093755.1|NM_024941.3 NP_001087224.1|NP_079217.2 trafficking protein particle complex 13 TGGAAGCCCAGATTCAGAATA 0.353000 7 4 0 0 1 0 0 DNPEP 23549 broad.mit.edu 37 2 220251131 220251131 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:220251131C>T ENST00000273075.4 - 5 556 c.336G>A c.(334-336)gtG>gtA p.V112V DNPEP_ENST00000523282.1_Silent_p.V120V|DNPEP_ENST00000373972.1_Silent_p.V37V NM_012100.2 NP_036232 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 102 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) ACCGACGTTTCACCTGAGTGT 0.517000 23 80 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17113138 17113138 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:17113138G>A ENST00000265970.7 - 30 4707 c.4708C>T c.(4708-4710)Cga>Tga p.R1570* PIK3C2A_ENST00000540361.1_Nonsense_Mutation_p.R1190*|PIK3C2A_ENST00000531428.1_5'UTR NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1570 C2. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) GTACCATTTCGGTAAGAGATG 0.388000 42 33 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67075206 67075206 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:67075206C>G ENST00000284425.2 - 39 4936 c.4762G>C c.(4762-4764)Gag>Cag p.E1588Q ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1588 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TTAGAAAGCTCTAAGAATACC 0.353000 22 26 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 76958034 76958034 + Nonsense_Mutation SNP T T A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:76958034T>A ENST00000538941.2 - 21 2806 c.1867A>T c.(1867-1869)Aaa>Taa p.K623* SCAPER_ENST00000324767.7_Nonsense_Mutation_p.K869*|SCAPER_ENST00000563290.1_Nonsense_Mutation_p.K869* NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 868 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 GCTTTTTTTTTATTTTTTTGC 0.348000 3 2 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163256815 163256815 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:163256815G>T ENST00000332142.5 - 10 2390 c.2291C>A c.(2290-2292)aCc>aAc p.T764N NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 764 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AGGTGCATGGGTGGTTTTGAA 0.458000 136 110 5.32379e-58 6.19496e-58 1 1 0 KDM5D 8284 broad.mit.edu 37 Y 21878276 21878276 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrY:21878276C>G ENST00000541639.1 - 16 2300 c.2013G>C c.(2011-2013)aaG>aaC p.K671N KDM5D_ENST00000382806.2_Missense_Mutation_p.K583N|KDM5D_ENST00000317961.4_Missense_Mutation_p.K640N NM_001146705.1 NP_001140177.1 Q9BY66 KDM5D_HUMAN lysine (K)-specific demethylase 5D 640 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(1)|large_intestine(9)|lung(6)|skin(1) 17 Vitamin C(DB00126) AGGCAGCCATCTTGCAGATGA 0.552000 48 4 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 154998788 154998788 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:154998788G>A ENST00000368424.3 - 10 1659 c.1601C>T c.(1600-1602)tCc>tTc p.S534F DCST2_ENST00000295536.5_Missense_Mutation_p.S534F NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 534 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CTGCTCCCGGGATGGGTAGTA 0.617000 26 120 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 3 23 0.004672 0.00474616 1 1 0 GOLGA8EP 390535 broad.mit.edu 37 15 23437917 23437917 + RNA SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:23437917C>A ENST00000526079.1 + 0 355 NR_027407.1|NR_033350.1 GCAGTAGTCCCAGACTCGAGG 0.547000 13 7 7.03913e-09 7.44635e-09 1 1 0 SLC6A8 6535 broad.mit.edu 37 X 152959662 152959662 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:152959662G>T ENST00000253122.5 + 9 1808 c.1332G>T c.(1330-1332)gaG>gaT p.E444D SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Missense_Mutation_p.E329D NM_001142805.1|NM_005629.3 NP_001136277.1|NP_005620.1 P48029 SC6A8_HUMAN solute carrier family 6 (neurotransmitter transporter), member 8 444 creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) TCCAAAGGGAGATCTCTGTGG 0.607000 100 5 2.9551e-36 3.38734e-36 1 1 0 EP300 2033 broad.mit.edu 37 22 41553350 41553350 + Nonsense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr22:41553350G>T ENST00000263253.7 + 18 4658 c.3439G>T c.(3439-3441)Gag>Tag p.E1147* NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1147 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CAAGCTCTCTGAGGTCTTTGA 0.403000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 48 53 1.23713e-20 1.36904e-20 1 1 0 GRIN2D 2906 broad.mit.edu 37 19 48919324 48919324 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:48919324C>T ENST00000263269.3 + 7 1735 c.1647C>T c.(1645-1647)atC>atT p.I549I NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 549 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GCTCCGAGATCGTGGACTTCT 0.662000 36 118 0 0 1 0 0 POLI 11201 broad.mit.edu 37 18 51804150 51804150 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:51804150G>C ENST00000579534.1 + 4 627 c.484G>C c.(484-486)Gag>Cag p.E162Q POLI_ENST00000406285.3_Missense_Mutation_p.E162Q|POLI_ENST00000579434.1_Missense_Mutation_p.E59Q|POLI_ENST00000217800.5_Missense_Mutation_p.E36Q NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 162 UmuC. DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AGAAATGGTTGAGAAGAGACT 0.373000 DNA polymerases (catalytic subunits) 14 17 0 0 1 0 0 KHDC1 80759 broad.mit.edu 37 6 73951907 73951907 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:73951907G>A ENST00000423730.3 - 3 601 c.166C>T c.(166-168)Cag>Tag p.Q56* KHDC1_ENST00000370384.3_Nonsense_Mutation_p.Q129*|KHDC1_ENST00000257765.5_Nonsense_Mutation_p.Q56* CTCTCCAGCTGAATAAGGGTG 0.547000 11 58 0 0 1 0 0 OSGEP 55644 broad.mit.edu 37 14 20916071 20916071 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr14:20916071C>A ENST00000555656.1 - 4 2205 c.188G>T c.(187-189)gGa>gTa p.G63V OSGEP_ENST00000206542.4_Missense_Mutation_p.G262V|OSGEP_ENST00000554249.1_Missense_Mutation_p.G80V Q9NPF4 OSGEP_HUMAN O-sialoglycoprotein endopeptidase 262 proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) ACACCCCACTCCTCCCACAAT 0.473000 103 59 5.07675e-46 5.85426e-46 1 1 0 CCR5 1234 broad.mit.edu 37 3 46415295 46415295 + Missense_Mutation SNP G G A rs1800943 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:46415295G>A ENST00000343801.4 + 3 1259 c.902G>A c.(901-903)gGg>gAg p.G301E CCR5_ENST00000445772.1_Missense_Mutation_p.G301E|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Missense_Mutation_p.G301E NM_000579.3 NP_000570.1 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 (gene/pseudogene) 301 G -> V (in dbSNP:rs1800943). cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) GCCTTTGTCGGGGAGAAGTTC 0.483000 293 290 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 5 82 0 0 1 0 0 ICAM5 7087 broad.mit.edu 37 19 10405105 10405105 + Nonsense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:10405105C>A ENST00000221980.4 + 9 2082 c.2019C>A c.(2017-2019)tgC>tgA p.C673* NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 673 Ig-like C2-type 8. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) AATCTACCTGCCCAAGTCACC 0.692000 61 34 2.14255e-21 2.37786e-21 1 1 0 ZBTB9 221504 broad.mit.edu 37 6 33424237 33424237 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:33424237C>G ENST00000395064.2 + 2 1628 c.1360C>G c.(1360-1362)Ctc>Gtc p.L454V NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 TGCCTGTTTTCTCCGCCACCG 0.572000 65 54 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9553378 9553378 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:9553378G>A ENST00000400556.3 - 16 2306 c.2233C>T c.(2233-2235)Cag>Tag p.Q745* PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.Q728* NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 745 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 AAAAACTCCTGAAGTTGATAA 0.328000 30 37 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65266296 65266296 + RNA SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:65266296C>G ENST00000534336.1 + 0 1064 NR_002819.2 GTTTGCAGCTCAAATCTTTCC 0.333000 47 129 0 0 1 0 0 ACVR2A 92 broad.mit.edu 37 2 148676128 148676128 + Missense_Mutation SNP T T A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:148676128T>A ENST00000241416.7 + 7 1565 c.929T>A c.(928-930)cTa>cAa p.L310Q ACVR2A_ENST00000535787.1_Missense_Mutation_p.L202Q|ACVR2A_ENST00000404590.1_Missense_Mutation_p.L310Q NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 310 Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) ATACCTGGCCTAAAAGATGGC 0.378000 5 43 0 0 1 0 0 MAZ 4150 broad.mit.edu 37 16 29821553 29821553 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:29821553G>C ENST00000563402.1 + 3 535 c.404G>C c.(403-405)aGc>aCc p.S135T AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_3'UTR|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000322945.6_3'UTR|MAZ_ENST00000566906.2_Missense_Mutation_p.S133T|MAZ_ENST00000568544.1_3'UTR|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000545521.1_3'UTR|MAZ_ENST00000219782.6_3'UTR P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 20 Poly-Pro. regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 ACCCTGGTGAGCTCCAAGTTG 0.622000 4 10 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105202183 105202183 + Missense_Mutation SNP G G A rs140495953 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:105202183G>A ENST00000369797.3 + 32 5015 c.4921G>A c.(4921-4923)Gtg>Atg p.V1641M NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1641 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GGCCCGTGCCGTGGCTGAGAG 0.587000 80 43 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 8 107 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28375401 28375401 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:28375401A>G ENST00000261609.7 - 83 12818 c.12710T>C c.(12709-12711)gTt>gCt p.V4237A NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4237 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGGCCTTCGAACATGGTCATC 0.552000 80 187 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160094202 160094202 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:160094202C>G ENST00000361216.3 + 6 701 c.612C>G c.(610-612)atC>atG p.I204M ATP1A2_ENST00000392233.3_Missense_Mutation_p.I204M NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 204 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCCGGATCATCTCTTCTCATG 0.567000 9 38 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128481267 128481267 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:128481267C>A ENST00000325888.8 + 12 2118 c.1857C>A c.(1855-1857)gaC>gaA p.D619E FLNC_ENST00000346177.6_Missense_Mutation_p.D619E NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 619 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TCGAATGTGACGACAAGGGGG 0.627000 15 191 2.48551e-13 2.67348e-13 1 1 0 HIPK3 10114 broad.mit.edu 37 11 33369461 33369461 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:33369461G>A ENST00000303296.4 + 11 2513 c.2208G>A c.(2206-2208)caG>caA p.Q736Q HIPK3_ENST00000525975.1_Silent_p.Q736Q|HIPK3_ENST00000456517.1_Silent_p.Q736Q|HIPK3_ENST00000379016.3_Silent_p.Q736Q NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 736 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 TGACCAATCAGATAACTTTAT 0.438000 39 90 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233134081 233134081 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:233134081C>G ENST00000258229.9 - 32 5941 c.5707G>C c.(5707-5709)Ggc>Cgc p.G1903R PCNXL2_ENST00000344698.2_Missense_Mutation_p.G555R NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TCCTGGCTGCCACCACTCGGG 0.637000 21 45 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90642597 90642597 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:90642597C>G ENST00000257749.4 - 9 2763 c.2056G>C c.(2056-2058)Gag>Cag p.E686Q BACH2_ENST00000537989.1_Missense_Mutation_p.E686Q|BACH2_ENST00000343122.3_Missense_Mutation_p.E686Q NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 686 Leucine-zipper. nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) AACAGTTTCTCTTTCTCACAC 0.473000 43 33 0 0 1 0 0 TNPO1 3842 broad.mit.edu 37 5 72192882 72192882 + Splice_Site SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:72192882G>C ENST00000337273.5 + 20 2668 c.e20-1 TNPO1_ENST00000506351.2_Splice_Site|TNPO1_ENST00000523768.1_Splice_Site|TNPO1_ENST00000454282.1_Splice_Site NM_002270.3 NP_002261.3 Q92973 TNPO1_HUMAN transportin 1 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) ATGATCTCTAGGTATAGAGAT 0.343000 25 23 0 0 1 0 0 HIST1H2BI 8346 broad.mit.edu 37 6 26273579 26273579 + Nonsense_Mutation SNP A A T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:26273579A>T ENST00000377733.2 + 1 436 c.376A>T c.(376-378)Aag>Tag p.K126* NM_003525.2 NP_003516.1 P62807 H2B1C_HUMAN histone cluster 1, H2bi 126 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1) 16 CACCAGCTCCAAGTAAACTAG 0.537000 27 31 0 0 1 0 0 FAM161A 84140 broad.mit.edu 37 2 62067209 62067209 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:62067209C>T ENST00000404929.1 - 3 941 c.930G>A c.(928-930)ctG>ctA p.L310L FAM161A_ENST00000405894.3_Silent_p.L310L NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 310 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TTTTCTCCTTCAGAGACCTTC 0.443000 62 268 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22892514 22892514 + Missense_Mutation SNP A A G rs140739353 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr22:22892514A>G ENST00000543184.1 - 4 1449 c.587T>C c.(586-588)aTt>aCt p.I196T PRAME_ENST00000405655.3_Missense_Mutation_p.I196T|PRAME_ENST00000398741.1_Missense_Mutation_p.I196T|PRAME_ENST00000539862.1_Missense_Mutation_p.I180T|PRAME_ENST00000424204.2_Missense_Mutation_p.I180T|PRAME_ENST00000402697.1_Missense_Mutation_p.I196T|PRAME_ENST00000398743.2_Missense_Mutation_p.I196T NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 196 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding p.I196T(1) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CACTTTCTCAATGAGGTAGGA 0.458000 57 85 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47538788 47538788 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:47538788A>G ENST00000273859.3 + 9 1498 c.1229A>G c.(1228-1230)tAc>tGc p.Y410C ATP10D_ENST00000504445.1_Missense_Mutation_p.Y395C NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 410 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 GTGGATTTCTACAATGAAAAA 0.398000 14 16 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114327003 114327003 + Silent SNP A A T rs148820468 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:114327003A>T ENST00000297405.5 - 2 442 c.198T>A c.(196-198)ggT>ggA p.G66G CSMD3_ENST00000343508.3_Silent_p.G26G|CSMD3_ENST00000352409.3_Silent_p.G66G|CSMD3_ENST00000455883.2_Silent_p.G66G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 66 CUB 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTAAAGTTCCACCACATGTAT 0.313000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 63 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529551 80529551 + Missense_Mutation SNP A A C rs148119501 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:80529551A>C ENST00000295057.3 - 2 2050 c.1394T>G c.(1393-1395)gTc>gGc p.V465G CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V465G|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 465 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GCGCTGCGTGACAAAGCACTG 0.532000 HNSCC(69;0.2) 20 126 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65271701 65271701 + RNA SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:65271701G>A ENST00000534336.1 + 0 6469 NR_002819.2 ACCTTGCAGTGAGTTTATCAG 0.413000 10 24 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153588566 153588566 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:153588566C>T ENST00000422373.1 - 22 3845 c.3597G>A c.(3595-3597)tcG>tcA p.S1199S FLNA_ENST00000344736.4_Silent_p.S1199S|FLNA_ENST00000360319.4_Silent_p.S1199S|FLNA_ENST00000369850.3_Silent_p.S1199S NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1199 S -> L (in MNS; does not inhibit interaction with MIS18BP1; dbSNP:rs28935473). actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCCCGCCTCCGAGCAGATCT 0.677000 14 40 0 0 1 0 0 FKBP7 51661 broad.mit.edu 37 2 179343041 179343041 + Silent SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:179343041G>T ENST00000424785.2 - 1 244 c.186C>A c.(184-186)ggC>ggA p.G62G FKBP7_ENST00000434643.2_Silent_p.G62G|FKBP7_ENST00000464248.1_5'UTR NM_001135212.1|NM_181342.2 NP_001128684.1|NP_851939.1 Q9Y680 FKBP7_HUMAN FK506 binding protein 7 62 PPIase FKBP-type. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) TAGCCAGGTAGCCGTCATAAT 0.498000 33 108 1.99505e-19 2.19513e-19 1 1 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372643 74372643 + RNA SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:74372643C>G ENST00000429810.2 - 0 1553 TTACCCTTGTCAGGGGGAACA 0.443000 23 20 0 0 1 0 0 SAMD3 154075 broad.mit.edu 37 6 130535635 130535635 + Missense_Mutation SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:130535635T>C ENST00000532763.1 - 3 245 c.116A>G c.(115-117)aAt>aGt p.N39S SAMD3_ENST00000437477.2_Missense_Mutation_p.N39S|SAMD3_ENST00000457563.2_Missense_Mutation_p.N63S|SAMD3_ENST00000368134.2_Missense_Mutation_p.N39S|SAMD3_ENST00000439090.2_Missense_Mutation_p.N39S|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Missense_Mutation_p.N39S Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 39 SAM. p.N39S(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) CATCCGATCATTAAGTGCAAG 0.408000 60 58 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 242027796 242027796 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:242027796C>G ENST00000310397.8 + 31 4222 c.4222C>G c.(4222-4224)Cag>Gag p.Q1408E MTERFD2_ENST00000464344.2_Intron|SNED1_ENST00000342631.6_Missense_Mutation_p.Q1375E|SNED1_ENST00000405547.3_Missense_Mutation_p.Q1347E NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 1408 cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) AAGTAAGAGTCAGACACTGGA 0.512000 5 92 0 0 1 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64629868 64629868 + Splice_Site SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:64629868C>A ENST00000536360.1 - 8 1931 c.e8+1 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) aaaaaaCTTACCCAGTGTTCC 0.254000 6 12 0.00198382 0.00202603 1 1 0 OR2T4 127074 broad.mit.edu 37 1 248525926 248525926 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:248525926G>A ENST00000366475.1 + 1 1044 c.1044G>A c.(1042-1044)gaG>gaA p.E348E NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 348 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAGCTATGGAGTAGACCATTT 0.403000 158 6 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12447409 12447409 + Silent SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:12447409C>A ENST00000397026.2 + 7 965 c.582C>A c.(580-582)gcC>gcA p.A194A PPARG_ENST00000309576.6_Silent_p.A188A|PPARG_ENST00000397012.2_Silent_p.A188A|PPARG_ENST00000539812.1_Silent_p.A186A|PPARG_ENST00000287820.6_Silent_p.A216A|PPARG_ENST00000397000.1_Silent_p.A188A|PPARG_ENST00000397010.2_Silent_p.A188A|PPARG_ENST00000397015.2_Silent_p.A188A P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 216 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) TGCCACAGGCCGAGAAGGAGA 0.517000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 22 120 2.98393e-07 3.12215e-07 1 1 0 TMEM132B 114795 broad.mit.edu 37 12 126138414 126138414 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:126138414G>A ENST00000299308.3 + 9 2403 c.2395G>A c.(2395-2397)Ggc>Agc p.G799S TMEM132B_ENST00000535886.1_Missense_Mutation_p.G311S NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 799 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GCACCAAGGAGGCAGCAATGA 0.458000 31 73 0 0 1 0 0 ZNF614 80110 broad.mit.edu 37 19 52519431 52519431 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:52519431C>T ENST00000270649.6 - 5 1964 c.1420G>A c.(1420-1422)Gag>Aag p.E474K ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TGACATCTCTCATGTTGTATG 0.408000 27 291 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125192129 125192129 + Missense_Mutation SNP A A T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:125192129A>T ENST00000431078.1 + 5 962 c.598A>T c.(598-600)Act>Tct p.T200S NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 200 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GTTGATGAGTACTCTCAAAGA 0.468000 22 77 0 0 1 0 0 IMPG2 50939 broad.mit.edu 37 3 100962599 100962599 + Missense_Mutation SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:100962599T>C ENST00000193391.7 - 13 2763 c.2576A>G c.(2575-2577)aAt>aGt p.N859S NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 859 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 AACCTTGCCATTTTGCTCTTG 0.448000 51 90 0 0 1 0 0 MTCH2 23788 broad.mit.edu 37 11 47653256 47653256 + Missense_Mutation SNP C C G rs144753500 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:47653256C>G ENST00000302503.3 - 6 534 c.377G>C c.(376-378)cGa>cCa p.R126P MTCH2_ENST00000542981.1_Intron NM_014342.3 NP_055157.1 Q9Y6C9 MTCH2_HUMAN mitochondrial carrier 2 126 transport integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 GATCATCTCTCGAGTTGTCTA 0.423000 22 71 0 0 1 0 0 BMPR2 659 broad.mit.edu 37 2 203420682 203420682 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:203420682C>T ENST00000374580.4 + 12 2833 c.2294C>T c.(2293-2295)tCa>tTa p.S765L BMPR2_ENST00000374574.2_Intron NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 765 anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 ACCAAAAATTCAACAAAAGAG 0.428000 23 80 0 0 1 0 0 MYO1D 4642 broad.mit.edu 37 17 31203816 31203816 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:31203816G>A ENST00000318217.5 - 1 379 c.75C>T c.(73-75)ttC>ttT p.F25F AC084809.2_ENST00000435733.1_RNA|MYO1D_ENST00000583621.1_Silent_p.F25F|MYO1D_ENST00000579584.1_Silent_p.F25F NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 25 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) GGTTGGCCATGAACTCGGGCA 0.721000 3 3 0 0 1 0 0 ACAP3 116983 broad.mit.edu 37 1 1233212 1233212 + Missense_Mutation SNP C C G rs146361230 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:1233212C>G ENST00000354700.5 - 14 1320 c.1118G>C c.(1117-1119)tGc>tCc p.C373S ACAP3_ENST00000379037.2_5'UTR|ACAP3_ENST00000353662.3_Missense_Mutation_p.C331S NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 373 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 CTCGCTATAGCAACTGTCAGG 0.682000 34 18 0 0 1 0 0 CDK4 1019 broad.mit.edu 37 12 58143281 58143281 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:58143281G>A ENST00000312990.6 - 5 463 c.287C>T c.(286-288)tCt>tTt p.S96F CDK4_ENST00000257904.6_Silent_p.L213L|CDK4_ENST00000540325.1_Silent_p.L93L|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000551888.1_5'UTR|TSPAN31_ENST00000547992.1_3'UTR P11802 CDK4_HUMAN cyclin-dependent kinase 4 0 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) TTCCACAGAAGAGAGGCCTAA 0.408000 Mis melanoma Hereditary Melanoma 13 39 0 0 1 0 0 C7orf33 202865 broad.mit.edu 37 7 148288208 148288208 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:148288208C>A ENST00000307003.2 + 1 552 c.191C>A c.(190-192)aCg>aAg p.T64K NM_145304.2 NP_660347.1 Q8WU49 CG033_HUMAN chromosome 7 open reading frame 33 64 p.T64M(1) central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2) 14 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TCATATGCCACGGGAAGACAT 0.473000 101 27 5.77035e-48 6.67413e-48 1 1 0 TSHZ3 57616 broad.mit.edu 37 19 31768032 31768032 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:31768032C>T ENST00000240587.4 - 2 2994 c.2667G>A c.(2665-2667)caG>caA p.Q889Q NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 889 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CCTTCCTCTTCTGGGCGGGCG 0.612000 51 50 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62820965 62820965 + RNA SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:62820965G>A ENST00000582986.1 - 0 188 NR_024386.1 GGCTTTCACGGATCCCACCAG 0.517000 16 103 0 0 1 0 0 NEK6 10783 broad.mit.edu 37 9 127113225 127113225 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:127113225G>A ENST00000373600.3 + 11 1258 c.1043G>A c.(1042-1044)tGa>tAa p.*348* NEK6_ENST00000373603.1_Silent_p.*314*|NEK6_ENST00000394199.2_Silent_p.*348*|NEK6_ENST00000545174.1_Silent_p.*314*|NEK6_ENST00000320246.5_Silent_p.*314*|NEK6_ENST00000539416.1_Silent_p.*339*|NEK6_ENST00000540326.1_Silent_p.*332*|NEK6_ENST00000546191.1_Silent_p.*314* NM_001145001.2 NP_001138473.1 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 0 apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 TCCAGCACCTGAGCGTGGATG 0.562000 25 41 0 0 1 0 0 SRRT 51593 broad.mit.edu 37 7 100485476 100485476 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:100485476C>T ENST00000388793.4 + 17 2539 c.2319C>T c.(2317-2319)gcC>gcT p.A773A SRRT_ENST00000347433.4_Silent_p.A774A|SRRT_ENST00000432932.1_Silent_p.A773A|SRRT_ENST00000457580.2_Silent_p.A774A NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 774 Pro-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CTGGCCCCGCCCAGAGTAAGA 0.532000 5 150 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51330209 51330209 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:51330209C>T ENST00000326856.4 - 4 532 c.403G>A c.(403-405)Gag>Aag p.E135K KLK15_ENST00000596931.1_Missense_Mutation_p.E135K|KLK15_ENST00000598239.1_Missense_Mutation_p.E136K|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.E136K NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 136 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) ACACAGGCCTCCCCCGGGTGG 0.692000 16 97 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171259362 171259362 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:171259362G>T ENST00000334231.6 + 19 2161 c.2161G>T c.(2161-2163)Gca>Tca p.A721S MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.A712S|MYO3B_ENST00000409044.3_Missense_Mutation_p.A712S Q8WXR4 MYO3B_HUMAN myosin IIIB 712 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 ATGCAGTAGTGCAGGAGGTGG 0.428000 21 107 4.54149e-19 4.98266e-19 1 1 0 RYR1 6261 broad.mit.edu 37 19 38945908 38945908 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:38945908C>T ENST00000355481.4 + 14 1605 c.1474C>T c.(1474-1476)Cgc>Tgc p.R492C RYR1_ENST00000360985.3_Missense_Mutation_p.R492C|RYR1_ENST00000359596.3_Missense_Mutation_p.R492C NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 492 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TTGCATAGACCGCCTAAATGT 0.507000 65 105 0 0 1 0 0 ATG9A 79065 broad.mit.edu 37 2 220089301 220089301 + Silent SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:220089301G>C ENST00000409618.1 - 8 1231 c.792C>G c.(790-792)ctC>ctG p.L264L ATG9A_ENST00000361242.4_Silent_p.L264L|ATG9A_ENST00000409422.1_Silent_p.L203L|ATG9A_ENST00000396761.2_Silent_p.L264L Q7Z3C6 ATG9A_HUMAN autophagy related 9A 264 autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCATTCATTGAGAAACAGAG 0.582000 15 42 0 0 1 0 0 ZC3H10 84872 broad.mit.edu 37 12 56515127 56515127 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:56515127C>T ENST00000257940.2 + 3 1057 c.781C>T c.(781-783)Ctg>Ttg p.L261L RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA NM_032786.1 NP_116175.1 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 261 nucleic acid binding|zinc ion binding breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) GGTCAGCAACCTGCTGGCCAC 0.552000 36 78 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92506013 92506013 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr14:92506013C>G ENST00000267622.4 - 1 390 c.17G>C c.(16-18)gGg>gCg p.G6A TRIP11_ENST00000555105.1_5'UTR NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 6 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity p.G6E(1) breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) GCCGAGGCCCCCAAGCCAGGA 0.577000 T PDGFRB AML 4 9 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 56 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62800707 62800707 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:62800707G>A ENST00000512091.2 + 13 2805 c.2058G>A c.(2056-2058)aaG>aaA p.K686K LPHN3_ENST00000509896.1_Silent_p.K754K|LPHN3_ENST00000506746.1_Silent_p.K754K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000545650.1_Silent_p.K686K|LPHN3_ENST00000508946.1_Silent_p.K686K|LPHN3_ENST00000514157.1_Silent_p.K686K|LPHN3_ENST00000508693.1_Silent_p.K754K|LPHN3_ENST00000507625.1_Silent_p.K754K|LPHN3_ENST00000507164.1_Silent_p.K754K|LPHN3_ENST00000506700.1_Silent_p.K686K|LPHN3_ENST00000514591.1_Silent_p.K686K|LPHN3_ENST00000511324.1_Silent_p.K754K|LPHN3_ENST00000504896.1_Silent_p.K686K|LPHN3_ENST00000506720.1_Silent_p.K754K|LPHN3_ENST00000514996.1_Silent_p.K686K Q9HAR2 LPHN3_HUMAN latrophilin 3 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 ACCTTTTGAAGACTGACATTG 0.438000 15 24 0 0 1 0 0 CNOT11 55571 broad.mit.edu 37 2 101869621 101869621 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:101869621G>A ENST00000289382.3 + 1 358 c.195G>A c.(193-195)ccG>ccA p.P65P NM_017546.4 NP_060016.3 CCR4-NOT transcription complex, subunit 11 GCTTGACCCCGAAGGAGCTCT 0.731000 7 25 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29107554 29107554 + RNA SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:29107554T>C ENST00000564580.1 + 0 946 TGGAAGCTTTTTGGCAAGAGC 0.363000 47 32 0 0 1 0 0 ZNF512 84450 broad.mit.edu 37 2 27825413 27825413 + Silent SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:27825413C>G ENST00000355467.4 + 8 836 c.753C>G c.(751-753)ctC>ctG p.L251L RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.L250L|ZNF512_ENST00000416005.2_Silent_p.L222L|ZNF512_ENST00000556601.1_Silent_p.L120L|ZNF512_ENST00000413371.2_Silent_p.L174L NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3 NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2 Q96ME7 ZN512_HUMAN zinc finger protein 512 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) TGGGAAAGCTCAGGTGCATGC 0.463000 7 54 0 0 1 0 0 MAP4K5 11183 broad.mit.edu 37 14 50910669 50910669 + Missense_Mutation SNP T T G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr14:50910669T>G ENST00000013125.4 - 19 1743 c.1425A>C c.(1423-1425)aaA>aaC p.K475N NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 475 activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) GGAAGTCTCGTTTGTCCTTTT 0.353000 6 7 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28884845 28884845 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:28884845C>G ENST00000375664.4 + 7 1268 c.659C>G c.(658-660)tCt>tGt p.S220C WAC_ENST00000354911.4_Missense_Mutation_p.S265C|WAC_ENST00000347934.4_Intron|WAC_ENST00000428935.1_Missense_Mutation_p.S220C|WAC_ENST00000375646.1_Intron Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 ACTGTTCCTTCTAGTCCATTT 0.463000 49 127 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90055402 90055402 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:90055402G>A ENST00000405460.2 + 58 12213 c.12117G>A c.(12115-12117)aaG>aaA p.K4039K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4039 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGAAGAAAAGACTGTAAGTT 0.383000 4 8 0 0 1 0 0 C12orf56 115749 broad.mit.edu 37 12 64679744 64679744 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:64679744C>T ENST00000543942.2 - 7 1836 c.1210G>A c.(1210-1212)Gat>Aat p.D404N C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.D244N NM_001170633.1 NP_001164104.1 Q8IXR9 CL056_HUMAN chromosome 12 open reading frame 56 407 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) ACCAGCTCATCAACCCTTTGG 0.363000 8 13 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481673 140481673 + Silent SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:140481673A>G ENST00000231130.2 + 1 1440 c.1440A>G c.(1438-1440)tcA>tcG p.S480S AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 480 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGAGACTCAGGCACCAACG 0.647000 69 105 0 0 1 0 0 GSX2 170825 broad.mit.edu 37 4 54968033 54968033 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:54968033G>A ENST00000326902.2 + 2 1173 c.859G>A c.(859-861)Gag>Aag p.E287K GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 287 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) CTCCGAGGATGAGGACTCCCT 0.647000 29 20 0 0 1 0 0 ZNF710 374655 broad.mit.edu 37 15 90617419 90617419 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:90617419C>T ENST00000268154.4 + 4 1973 c.1722C>T c.(1720-1722)ccC>ccT p.P574P NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 574 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) GCAGCAAGCCCTTCAAGTGCC 0.587000 49 29 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27683085 27683085 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:27683085C>G ENST00000374040.3 - 24 3756 c.3496G>C c.(3496-3498)Gat>Cat p.D1166H MAP3K6_ENST00000357582.2_Missense_Mutation_p.D1174H|MAP3K6_ENST00000493901.1_Missense_Mutation_p.D1174H O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 1174 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 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;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CTTTACCGATCAGTCTCTGCC 0.647000 9 53 0 0 1 0 0 PRPH 5630 broad.mit.edu 37 12 49691240 49691240 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:49691240G>C ENST00000257860.4 + 6 2596 c.1097G>C c.(1096-1098)cGa>cCa p.R366P RP11-161H23.9_ENST00000553259.1_RNA NM_006262.3 NP_006253.2 P41219 PERI_HUMAN peripherin 366 Coil 2.|Rod. structural molecule activity kidney(1)|large_intestine(2)|lung(8)|skin(1) 12 GAGGAGCTGCGACAGCTAAAA 0.652000 OREG0021790 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 16 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32634258 32634258 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:32634258G>C ENST00000242310.4 - 1 1409 c.1320C>G c.(1318-1320)atC>atG p.I440M RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 440 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTTTGTGTTTGATATCCTCCC 0.468000 213 143 0 0 1 0 0 DMRT2 10655 broad.mit.edu 37 9 1056399 1056399 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:1056399C>G ENST00000382251.3 + 5 1141 c.812C>G c.(811-813)cCc>cGc p.P271R DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.P271R|DMRT2_ENST00000302441.6_Missense_Mutation_p.P271R|DMRT2_ENST00000259622.6_3'UTR Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 2 271 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) CTGTTTCTGCCCAACCGCATG 0.473000 21 154 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52758102 52758102 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:52758102G>A ENST00000257901.3 - 3 753 c.678C>T c.(676-678)gtC>gtT p.V226V KRT85_ENST00000544265.1_Intron NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 226 Coil 1B.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TCTTTAGAACGACAAACTCAT 0.572000 55 42 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119456227 119456227 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:119456227G>A ENST00000273390.5 + 11 1436 c.1359G>A c.(1357-1359)aaG>aaA p.K453K NM_033364.3 NP_203528 MYCBP-associated, testis expressed 1 TGTTGGATAAGAAGAATAAAG 0.348000 20 69 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58095302 58095302 + Splice_Site SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:58095302G>A ENST00000357272.4 + 15 2364 c.e15-1 FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000419752.2_Splice_Site O75369 FLNB_HUMAN filamin B, beta actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GTCTTCTCTAGGTCAACATCG 0.458000 74 90 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10364096 10364096 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:10364096C>G ENST00000377093.4 + 21 3006 c.2853C>G c.(2851-2853)atC>atG p.I951M KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.I951M NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding p.I951I(1) breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) ATAGGTTCATCCCTCCTGAGA 0.488000 112 66 0 0 1 0 0 TBC1D16 125058 broad.mit.edu 37 17 77922709 77922709 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:77922709G>T ENST00000310924.2 - 8 1618 c.1503C>A c.(1501-1503)ttC>ttA p.F501L TBC1D16_ENST00000340848.7_Missense_Mutation_p.F139L|TBC1D16_ENST00000572862.1_Missense_Mutation_p.F139L|TBC1D16_ENST00000570373.1_Missense_Mutation_p.F140L|TBC1D16_ENST00000576768.1_Missense_Mutation_p.F126L NM_001271844.1|NM_001271845.1|NM_019020.2 NP_001258773.1|NP_001258774.1|NP_061893.2 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 501 Rab-GAP TBC. intracellular Rab GTPase activator activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) CCCCCCGGAAGAACTGGTTGT 0.572000 102 148 4.24508e-63 4.96985e-63 1 1 0 C19orf55 148137 broad.mit.edu 37 19 36256029 36256029 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:36256029G>A ENST00000544099.1 + 7 784 c.721G>A c.(721-723)Gag>Aag p.E241K C19orf55_ENST00000396908.4_Missense_Mutation_p.E241K Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 241 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCCCTTCTCGGAGACCTTCAT 0.622000 16 222 0 0 1 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32891893 32891893 + RNA SNP A A C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:32891893A>C ENST00000330048.5 - 0 2830 NR_003083.2 AGCTGGTCCCACTGTTGATGA 0.627000 30 24 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153236183 153236183 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:153236183G>A ENST00000310441.7 - 1 1075 c.109C>T c.(109-111)Cgc>Tgc p.R37C HCFC1_ENST00000354233.3_Missense_Mutation_p.R37C|HCFC1_ENST00000369984.4_Missense_Mutation_p.R37C NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 37 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R37C(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCACGGCGCGGTGGCCGTGG 0.682000 13 4 0 0 1 0 0 PINK1 65018 broad.mit.edu 37 1 20972086 20972086 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:20972086G>A ENST00000321556.4 + 5 1087 c.993G>A c.(991-993)gtG>gtA p.V331V PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA NM_032409.2 NP_115785.1 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 331 Protein kinase. cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2) 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ACCTTTGTGTGAACACACCCA 0.577000 24 54 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101938609 101938609 + Splice_Site SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:101938609C>T ENST00000348070.1 - 8 992 c.993G>A c.(991-993)aaG>aaA p.K331K PCSK6_ENST00000344273.2_Splice_Site_p.K331K|PCSK6_ENST00000331826.7_Splice_Site_p.K166K|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Splice_Site_p.K331K|PCSK6_ENST00000358417.3_Splice_Site_p.K331K NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 332 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTACTCACACCTTTTTAATGC 0.557000 57 147 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230377518 230377518 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:230377518G>A ENST00000341772.4 - 6 1262 c.1128C>T c.(1126-1128)ttC>ttT p.F376F NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 376 EGF-like 4. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) AAACACAGGTGAAATTGCTCC 0.413000 89 72 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56436917 56436917 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:56436917C>T ENST00000290649.5 - 7 1164 c.954G>A c.(952-954)gtG>gtA p.V318V NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 318 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 TGTTTCCAACCACACGTAGAT 0.443000 69 99 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51330397 51330397 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:51330397C>T ENST00000326856.4 - 4 344 c.215G>A c.(214-216)gGa>gAa p.G72E KLK15_ENST00000596931.1_Missense_Mutation_p.G72E|KLK15_ENST00000598239.1_Missense_Mutation_p.G73E|KLK15_ENST00000416184.1_Missense_Mutation_p.G73E|KLK15_ENST00000301421.2_Missense_Mutation_p.G73E NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 73 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) GTTGTGCTCTCCCAGGCGCAC 0.622000 20 120 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 4 29 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10942758 10942758 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr21:10942758C>T ENST00000298232.7 - 12 996 c.629G>A c.(628-630)aGg>aAg p.R210K TPTE_ENST00000361285.4_Missense_Mutation_p.R228K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R190K NM_199259.2 NP_954868 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 228 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGTGTATCGCCTTTTGTTTTC 0.328000 90 510 0 0 1 0 0 ZNF653 115950 broad.mit.edu 37 19 11597944 11597944 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:11597944C>T ENST00000293771.5 - 5 1337 c.1201G>A c.(1201-1203)Gag>Aag p.E401K CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 TCCTTCTCCTCCTTCTTTAGC 0.647000 51 84 0 0 1 0 0 B3GALT6 126792 broad.mit.edu 37 1 1168307 1168307 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:1168307G>T ENST00000379198.2 + 1 679 c.649G>T c.(649-651)Ggc>Tgc p.G217C NM_080605.3 NP_542172.2 Q96L58 B3GT6_HUMAN UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 217 glycosaminoglycan biosynthetic process|protein glycosylation Golgi cisterna membrane|Golgi medial cisterna|integral to membrane galactosylxylosylprotein 3-beta-galactosyltransferase activity lung(3) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCTGGGCGGCGGCTACGTGCT 0.736000 4 8 0.00909568 0.00919142 1 1 0 SSU72 29101 broad.mit.edu 37 1 1479272 1479272 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:1479272G>A ENST00000291386.3 - 4 771 c.460C>T c.(460-462)Ctc>Ttc p.L154F NM_014188.2 NP_054907.1 Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 154 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) TCACAGATGAGAAACGCCCCC 0.607000 36 101 0 0 1 0 0 PTHLH 5744 broad.mit.edu 37 12 28116576 28116576 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:28116576C>G ENST00000535992.1 - 3 575 c.229G>C c.(229-231)Gag>Cag p.E77Q PTHLH_ENST00000538310.1_Missense_Mutation_p.E77Q|PTHLH_ENST00000354417.3_Missense_Mutation_p.E77Q|PTHLH_ENST00000395868.3_Missense_Mutation_p.E77Q|PTHLH_ENST00000395872.1_Missense_Mutation_p.E77Q|PTHLH_ENST00000539239.1_Missense_Mutation_p.E77Q|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000201015.4_Missense_Mutation_p.E77Q|PTHLH_ENST00000545234.1_Missense_Mutation_p.E77Q P12272 PTHR_HUMAN parathyroid hormone-like hormone 77 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) GGGGACACCTCCGAGGTAGCT 0.507000 34 299 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43867194 43867194 + Nonsense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr21:43867194G>T ENST00000319294.6 + 15 1907 c.1876G>T c.(1876-1878)Gaa>Taa p.E626* UBASH3A_ENST00000291535.6_Nonsense_Mutation_p.E588*|UBASH3A_ENST00000398367.1_Silent_p.V515V NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 626 Phosphatase-like. cytosol|nucleus p.E626K(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 GTGCTTCTGTGAAGAAAATAA 0.463000 69 167 1.02487e-32 1.16435e-32 1 1 0 PLVAP 83483 broad.mit.edu 37 19 17487748 17487748 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:17487748C>T ENST00000252590.4 - 1 411 c.350G>A c.(349-351)cGc>cAc p.R117H NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 117 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTGGCACTGGCGGAAGCTGGC 0.617000 19 37 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49831400 49831400 + RNA SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:49831400T>C ENST00000527477.1 + 0 1625 CCCATATCACTGCAACACCTA 0.453000 12 49 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74154543 74154543 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:74154543G>T ENST00000443185.2 - 3 785 c.468C>A c.(466-468)agC>agA p.S156R ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCCCCTTCTTGCTGCTCCGCA 0.701000 4 4 0.00024832 0.000255643 1 1 0 GMDS 2762 broad.mit.edu 37 6 1624454 1624454 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:1624454C>T ENST00000380815.4 - 11 1338 c.1069G>A c.(1069-1071)Gag>Aag p.E357K GMDS_ENST00000530927.1_Missense_Mutation_p.E327K|GMDS_ENST00000467288.2_5'UTR NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 357 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) TGCACCATCTCCCTCACCAGC 0.677000 17 15 0 0 1 0 0 FAM84B 157638 broad.mit.edu 37 8 127569335 127569335 + Silent SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:127569335G>C ENST00000304916.3 - 2 755 c.300C>G c.(298-300)ggC>ggG p.G100G RP11-103H7.5_ENST00000524320.1_RNA NM_174911.4 NP_777571.1 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 100 cytoplasm|plasma membrane protein binding lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 5 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) GCGCCGCCGAGCCCGGCGCGA 0.657000 48 21 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 59 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 4 65 0 0 1 0 0 NTF4 4909 broad.mit.edu 37 19 49564969 49564969 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:49564969C>T ENST00000301411.3 - 2 426 c.286G>A c.(286-288)Gtg>Atg p.V96M NTF4_ENST00000451356.2_Intron|NTF4_ENST00000593537.1_Missense_Mutation_p.V96M NM_006179.4 NP_006170.1 P34130 NTF4_HUMAN neurotrophin 4 96 adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity kidney(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) GCATCGCACACAGCCAGCTCA 0.701000 38 34 0 0 1 0 0 COIL 8161 broad.mit.edu 37 17 55027348 55027348 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:55027348G>A ENST00000240316.4 - 2 1289 c.1255C>T c.(1255-1257)Cga>Tga p.R419* NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 419 2 X 4 AA repeats of S-L-P-A.|4 X 2 AA tandem repeats of R-G. Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) GGATGCCCTCGTCCTCGACCT 0.478000 54 111 0 0 1 0 0 IRF9 10379 broad.mit.edu 37 14 24631433 24631433 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr14:24631433G>A ENST00000396864.3 + 2 367 c.80G>A c.(79-81)gGa>gAa p.G27E RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Intron NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 27 interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) CAGTTTCCCGGAGTGTGCTGG 0.577000 63 76 0 0 1 0 0 ZNF568 374900 broad.mit.edu 37 19 37441380 37441380 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:37441380C>G ENST00000415168.1 + 5 1509 c.1133C>G c.(1132-1134)gCt>gGt p.A378G ZNF568_ENST00000333987.7_Missense_Mutation_p.A442G|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATCATACAGCTGAGAAACCC 0.403000 5 183 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166850696 166850696 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:166850696C>T ENST00000423058.2 - 25 4829 c.4812G>A c.(4810-4812)tgG>tgA p.W1604* SCN1A_ENST00000375405.3_Nonsense_Mutation_p.W1593*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.W1576*|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.W1604*|AC010127.3_ENST00000597623.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1604 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CAAAAATATTCCATCCAATGG 0.323000 13 34 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152468823 152468823 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:152468823C>G ENST00000397345.3 - 78 11884 c.11682G>C c.(11680-11682)aaG>aaC p.K3894N NEB_ENST00000172853.10_Missense_Mutation_p.K3651N|NEB_ENST00000604864.1_Missense_Mutation_p.K3894N|NEB_ENST00000427231.2_Missense_Mutation_p.K3894N|NEB_ENST00000603639.1_Missense_Mutation_p.K3894N|NEB_ENST00000409198.1_Missense_Mutation_p.K3651N NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 3894 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTCCAGCTCTCTTCACTTTCT 0.458000 37 21 0 0 1 0 0 DUOXA2 405753 broad.mit.edu 37 15 45408927 45408927 + Splice_Site SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:45408927G>A ENST00000323030.5 + 4 839 c.554G>A c.(553-555)tGg>tAg p.W185* NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 185 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) GCCACGCTATGGTAAGTGCTG 0.642000 19 25 0 0 1 0 0 SMOC2 64094 broad.mit.edu 37 6 169064760 169064760 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:169064760G>A ENST00000354536.5 + 12 1545 c.1325G>A c.(1324-1326)aGa>aAa p.R442K SMOC2_ENST00000356284.2_Missense_Mutation_p.R431K|SMOC2_ENST00000477998.1_3'UTR NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 431 signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CTAGCCCCCAGAGGTCATGCT 0.299000 10 73 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43816951 43816951 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:43816951C>T ENST00000382031.1 + 5 4025 c.3994C>T c.(3994-3996)Cag>Tag p.Q1332* MAP1A_ENST00000300231.5_Nonsense_Mutation_p.Q1094*|MAP1A_ENST00000399453.1_Nonsense_Mutation_p.Q1094* P78559 MAP1A_HUMAN microtubule-associated protein 1A 1094 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GTTGCCAGCACAGGATAAAGC 0.542000 6 161 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830970 61830970 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:61830970C>T ENST00000280772.2 - 37 9860 c.9669G>A c.(9667-9669)gtG>gtA p.V3223V ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTGTTTCCTCCACTGTAGTCT 0.473000 6 202 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161580368 161580368 + Nonsense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:161580368C>A ENST00000356592.3 + 10 1882 c.1422C>A c.(1420-1422)taC>taA p.Y474* GABRG2_ENST00000361925.4_Nonsense_Mutation_p.Y466*|GABRG2_ENST00000393933.4_Nonsense_Mutation_p.Y371*|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.Y514* NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 466 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CCTACCTCTACCTGTGAGGAG 0.443000 74 114 1.07363e-35 1.22701e-35 1 1 0 MALAT1 378938 broad.mit.edu 37 11 65268731 65268731 + RNA SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:65268731C>T ENST00000534336.1 + 0 3499 NR_002819.2 AATATGTTTTCAGTTCTTTTT 0.403000 12 28 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47574247 47574247 + Splice_Site SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:47574247G>A ENST00000273859.3 + 17 3509 c.3240G>A c.(3238-3240)caG>caA p.Q1080Q NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1080 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 AAGGCATGCAGGTGAGTGGAT 0.498000 29 34 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51887631 51887631 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:51887631G>A ENST00000371117.3 - 33 5623 c.5348C>T c.(5347-5349)tCt>tTt p.S1783F PKHD1_ENST00000340994.4_Missense_Mutation_p.S1783F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1783 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GCTGAAGGCAGACACTGTAGC 0.473000 38 40 0 0 1 0 0 MOSPD2 158747 broad.mit.edu 37 X 14932633 14932633 + Missense_Mutation SNP A A C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:14932633A>C ENST00000380492.3 + 11 1089 c.1001A>C c.(1000-1002)gAa>gCa p.E334A MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.E334A NM_001177475.1|NM_152581.3 NP_001170946.1|NP_689794.1 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 334 MSP. integral to membrane structural molecule activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(33;0.183) AGCCCAGCAGAAGAACTGTAC 0.299000 31 2 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 154995910 154995910 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:154995910G>A ENST00000368424.3 - 13 1952 c.1894C>T c.(1894-1896)Cgc>Tgc p.R632C NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 632 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCCAGGAGGCGGAAGCAAGTG 0.612000 8 25 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77171093 77171093 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:77171093G>T ENST00000253506.5 + 2 1187 c.818G>T c.(817-819)cGg>cTg p.R273L NFATC1_ENST00000591814.1_Missense_Mutation_p.R273L|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.R273L|NFATC1_ENST00000592223.1_Missense_Mutation_p.R260L|NFATC1_ENST00000586434.1_Missense_Mutation_p.R260L|NFATC1_ENST00000587635.1_Missense_Mutation_p.R273L|NFATC1_ENST00000329101.4_Missense_Mutation_p.R260L|NFATC1_ENST00000318065.5_Missense_Mutation_p.R260L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.R273L NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 273 3 X SP repeats. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CTCAACGGCCGGCAGCCGCCC 0.706000 13 40 2.27111e-07 2.3828e-07 1 1 0 ZNF385D 79750 broad.mit.edu 37 3 21552450 21552450 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:21552450C>T ENST00000281523.2 - 4 860 c.342G>A c.(340-342)atG>atA p.M114I ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 114 nucleus nucleic acid binding|zinc ion binding p.M114I(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GCTTATTTTTCATGGCTTCCA 0.463000 72 75 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6590023 6590023 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:6590023C>G ENST00000254579.6 + 39 13354 c.12790C>G c.(12790-12792)Ctg>Gtg p.L4264V DNHD1_ENST00000527990.2_Missense_Mutation_p.L4264V NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4264 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGCACTACCTCTGCTCCTCCT 0.602000 17 14 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40939188 40939188 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:40939188G>A ENST00000346991.5 + 18 6478 c.6088G>A c.(6088-6090)Gag>Aag p.E2030K CASC5_ENST00000399668.2_Missense_Mutation_p.E2004K Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 2030 Necessary for kinetochore localization and for interaction with NSL1 and DSN1. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TATTTAGAATGAGAGGGAGAA 0.303000 22 27 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139889343 139889343 + Missense_Mutation SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:139889343T>C ENST00000297183.6 + 21 4011 c.3887T>C c.(3886-3888)tTa>tCa p.L1296S ANKHD1_ENST00000360839.2_Missense_Mutation_p.L1296S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L1296S NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATACTGCTTTAACAATAGCA 0.408000 27 26 0 0 1 0 0 TOM1 10043 broad.mit.edu 37 22 35726432 35726432 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr22:35726432C>T ENST00000382034.5 + 9 999 c.657C>T c.(655-657)atC>atT p.I219I TOM1_ENST00000411850.1_Silent_p.I286I|TOM1_ENST00000449058.2_Silent_p.I286I|TOM1_ENST00000447733.1_Silent_p.I253I|TOM1_ENST00000425375.1_Silent_p.I241I|TOM1_ENST00000436462.2_Silent_p.I248I O60784 TOM1_HUMAN target of myb1 (chicken) 286 GAT. endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 AGCTGCTCATCGTCAATGACA 0.612000 4 127 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212285209 212285209 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:212285209G>A ENST00000342788.4 - 25 3402 c.3092C>T c.(3091-3093)cCa>cTa p.P1031L ERBB4_ENST00000402597.1_Missense_Mutation_p.P1021L|ERBB4_ENST00000436443.1_Missense_Mutation_p.P1031L NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1031 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GATGGGAGGTGGGATGTTGAA 0.373000 TSP Lung(8;0.080) 4 70 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43815124 43815124 + Missense_Mutation SNP A A C rs2584715 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:43815124A>C ENST00000382031.1 + 5 2198 c.2167A>C c.(2167-2169)Aaa>Caa p.K723Q MAP1A_ENST00000300231.5_Missense_Mutation_p.K485Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.K485Q P78559 MAP1A_HUMAN microtubule-associated protein 1A 485 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TGGAAGAGTCAAAATAGACAG 0.527000 8 33 0 0 1 0 0 SLC27A1 376497 broad.mit.edu 37 19 17611152 17611152 + Silent SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:17611152C>A ENST00000252595.7 + 8 1369 c.1272C>A c.(1270-1272)gtC>gtA p.V424V SLC27A1_ENST00000442725.1_Silent_p.V424V|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Silent_p.V245V|CTD-3131K8.2_ENST00000596643.1_lincRNA NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 424 Sufficient for oligomerization (By similarity). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TGGTGAAGGTCAATGAGGACA 0.662000 29 127 4.22769e-11 4.49705e-11 1 1 0 ZNF532 55205 broad.mit.edu 37 18 56601746 56601746 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:56601746C>A ENST00000336078.4 + 5 3204 c.2428C>A c.(2428-2430)Ccc>Acc p.P810T ZNF532_ENST00000589288.1_Missense_Mutation_p.P810T|ZNF532_ENST00000591083.1_Missense_Mutation_p.P810T|ZNF532_ENST00000591230.1_Missense_Mutation_p.P810T|ZNF532_ENST00000591808.1_Missense_Mutation_p.P810T NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 810 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 GCACAAATCTCCCTACACCTG 0.522000 59 91 1.4709e-25 1.65154e-25 1 1 0 PDXDC2P 283970 broad.mit.edu 37 16 70010467 70010467 + RNA SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:70010467G>T ENST00000531894.1 - 0 3916 NR_003610.1 AGGGGAATAAGAAGACATTCG 0.493000 24 0 1.42536e-11 1.52461e-11 1 1 0 ZCCHC14 23174 broad.mit.edu 37 16 87493735 87493735 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:87493735G>A ENST00000268616.4 - 2 379 c.162C>T c.(160-162)atC>atT p.I54I NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 54 I -> V (in dbSNP:rs11648852). cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) TTCTTGGAGTGATCTGAGGGA 0.443000 8 153 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186270750 186270750 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:186270750G>A ENST00000445192.2 + 4 271 c.226G>A c.(226-228)Gag>Aag p.E76K PRG4_ENST00000367486.3_Missense_Mutation_p.E76K|PRG4_ENST00000367485.4_Missense_Mutation_p.E76K|PRG4_ENST00000367484.3_Missense_Mutation_p.E35K|PRG4_ENST00000367483.4_Missense_Mutation_p.E35K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 76 SMB 2. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity 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 CCGCTGCTTTGAGTCCTTCGA 0.483000 114 0 0 0 1 0 0 JUNB 3726 broad.mit.edu 37 19 12902839 12902839 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:12902839C>T ENST00000302754.4 + 1 530 c.254C>T c.(253-255)tCg>tTg p.S85L NM_002229.2 NP_002220.1 P17275 JUNB_HUMAN jun B proto-oncogene 85 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|kidney(1)|lung(3) 6 CTCGCCTCTTCGGAGCTGGAA 0.687000 4 21 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103906993 103906993 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:103906993C>T ENST00000278070.2 + 9 4283 c.4244C>T c.(4243-4245)tCa>tTa p.S1415L PPRC1_ENST00000370012.1_Missense_Mutation_p.S382L|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1415 Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCCAGCCCCTCAAGCCAGGGC 0.612000 68 35 0 0 1 0 0 CASP1 834 broad.mit.edu 37 11 104897665 104897665 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:104897665C>T ENST00000533400.1 - 8 1055 c.1020G>A c.(1018-1020)tgG>tgA p.W340* CASP1_ENST00000415981.2_Nonsense_Mutation_p.W24*|CASP1_ENST00000446369.1_Nonsense_Mutation_p.W199*|CASP1_ENST00000526568.1_Nonsense_Mutation_p.W247*|CASP1_ENST00000527979.1_Nonsense_Mutation_p.W303*|CASP1_ENST00000353247.5_Nonsense_Mutation_p.W24*|CASP1_ENST00000598974.1_Nonsense_Mutation_p.W340*|CASP1_ENST00000436863.3_Nonsense_Mutation_p.W340*|CASP1_ENST00000531166.1_Nonsense_Mutation_p.W24*|CASP1_ENST00000393136.4_Nonsense_Mutation_p.W319*|CASP1_ENST00000593315.1_Nonsense_Mutation_p.W319*|CASP1_ENST00000534497.1_Nonsense_Mutation_p.W199*|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000594519.1_Nonsense_Mutation_p.W199*|CASP1_ENST00000525825.1_Nonsense_Mutation_p.W319* NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 340 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TGGGATGTCTCCAAGAAACAT 0.403000 46 29 0 0 1 0 0 PDE5A 8654 broad.mit.edu 37 4 120517758 120517758 + Missense_Mutation SNP A A C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:120517758A>C ENST00000354960.3 - 3 1070 c.751T>G c.(751-753)Ttc>Gtc p.F251V PDE5A_ENST00000264805.5_Missense_Mutation_p.F209V|PDE5A_ENST00000394439.1_Missense_Mutation_p.F199V NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 251 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) TCTGCATTGAACCGAGGATCC 0.328000 14 29 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56538965 56538965 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:56538965C>T ENST00000390649.3 + 7 1366 c.1366C>T c.(1366-1368)Cgt>Tgt p.R456C NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 456 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ACAAGGGTTGCGTGCGATCAT 0.592000 25 36 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88533799 88533799 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:88533799C>G ENST00000399271.1 + 4 581 c.461C>G c.(460-462)aCt>aGt p.T154S RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.T154S NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 154 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) AGAAGCAACACTAATGGAAAT 0.438000 22 31 0 0 1 0 0 FAM209A 200232 broad.mit.edu 37 20 55101119 55101119 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:55101119C>G ENST00000371328.3 + 2 832 c.509C>G c.(508-510)tCt>tGt p.S170C FAM209A_ENST00000481560.1_3'UTR NM_001012971.3 NP_001012989.2 family with sequence similarity 209, member A GAAGAAAGCTCTAGCTGAATG 0.408000 25 50 0 0 1 0 0 AVPR1B 553 broad.mit.edu 37 1 206225298 206225298 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:206225298C>T ENST00000367126.4 + 1 1323 c.858C>T c.(856-858)atC>atT p.I286I NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 286 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CCTTTGTCATCGTGCTGGCCT 0.572000 72 54 0 0 1 0 0 XYLB 9942 broad.mit.edu 37 3 38401846 38401846 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:38401846C>G ENST00000207870.3 + 3 247 c.157C>G c.(157-159)Cat>Gat p.H53D XYLB_ENST00000542835.1_Intron NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 53 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) GGGTGGTGTTCATGTGCACAA 0.532000 93 96 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65269171 65269171 + RNA SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:65269171C>T ENST00000534336.1 + 0 3939 NR_002819.2 GAAGAGTATTCCCAGTTGAAG 0.453000 24 48 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50733754 50733754 + Splice_Site SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:50733754G>T ENST00000404971.1 - 14 3835 c.2496C>A c.(2494-2496)agC>agA p.S832R NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Splice_Site_p.S792R|NRXN1_ENST00000401669.2_Splice_Site_p.S792R|NRXN1_ENST00000402717.3_Splice_Site_p.S784R|NRXN1_ENST00000406316.2_Splice_Site_p.S792R|NRXN1_ENST00000405472.3_Splice_Site_p.S784R NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 792 Laminin G-like 4. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CGGGACCTTTGCCTGTAGAAT 0.458000 7 66 2.0095e-06 2.09118e-06 1 1 0 MOGAT2 80168 broad.mit.edu 37 11 75439964 75439964 + Silent SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:75439964C>G ENST00000526712.1 + 4 1307 c.534C>G c.(532-534)ctC>ctG p.L178L MOGAT2_ENST00000198801.5_Silent_p.L260L Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 260 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) CCCTCCCACTCTTTCATGGCC 0.537000 82 46 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33067581 33067581 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:33067581G>A ENST00000374864.4 + 18 2018 c.1805G>A c.(1804-1806)aGa>aAa p.R602K ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Missense_Mutation_p.R643K|ITCH_ENST00000535650.1_Missense_Mutation_p.R492K NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 643 HECT. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 TTTATTGGCAGATTTATTGCC 0.368000 38 30 0 0 1 0 0 TTC23 64927 broad.mit.edu 37 15 99696485 99696485 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:99696485C>T ENST00000394132.2 - 12 1828 c.1011G>A c.(1009-1011)ctG>ctA p.L337L TTC23_ENST00000394130.1_Silent_p.L337L|TTC23_ENST00000394136.1_Silent_p.L337L|TTC23_ENST00000262074.4_Silent_p.L337L|TTC23_ENST00000558663.1_Silent_p.L337L|TTC23_ENST00000558613.1_Silent_p.L337L|TTC23_ENST00000394129.2_Silent_p.L337L|TTC23_ENST00000394135.3_Silent_p.L337L Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 337 binding endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2) 16 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) GGGACTCTCTCAGGATCGAGG 0.502000 58 36 0 0 1 0 0 XRRA1 143570 broad.mit.edu 37 11 74641373 74641373 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:74641373G>C ENST00000340360.6 - 6 703 c.372C>G c.(370-372)atC>atG p.I124M XRRA1_ENST00000527087.1_Missense_Mutation_p.I124M|XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000321448.8_De_novo_Start_InFrame NM_182969.2 NP_892014.1 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 124 response to X-ray cytoplasm|nucleus breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 CTGAGGCATTGATATAAATCA 0.393000 2 5 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114380326 114380326 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:114380326G>A ENST00000359785.5 - 13 1831 c.1696C>T c.(1696-1698)Ctg>Ttg p.L566L PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Silent_p.L566L|PTPN22_ENST00000538253.1_Silent_p.L322L|PTPN22_ENST00000525799.1_Silent_p.L439L|PTPN22_ENST00000528414.1_Silent_p.L511L NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 566 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTTGGCAACAGAGAAGAAGGA 0.383000 77 45 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43815610 43815610 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:43815610G>A ENST00000382031.1 + 5 2684 c.2653G>A c.(2653-2655)Gaa>Aaa p.E885K MAP1A_ENST00000300231.5_Missense_Mutation_p.E647K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E647K P78559 MAP1A_HUMAN microtubule-associated protein 1A 647 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AAGTGAACCTGAAGTAAAGGA 0.488000 15 27 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52788848 52788848 + Missense_Mutation SNP C C T rs140708995 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:52788848C>T ENST00000257974.2 - 9 1530 c.1453G>A c.(1453-1455)Gag>Aag p.E485K RP3-416H24.4_ENST00000547174.1_RNA NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 485 Tail. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) CCCTGGGGCTCGCAGGGGACA 0.642000 29 73 0 0 1 0 0 PSMA8 143471 broad.mit.edu 37 18 23731808 23731808 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:23731808G>C ENST00000308268.6 + 3 323 c.234G>C c.(232-234)ttG>ttC p.L78F PSMA8_ENST00000343848.6_Intron|PSMA8_ENST00000415576.2_Intron NM_001025096.1|NM_144662.2 NP_001020267.1|NP_653263.2 Q8TAA3 PSA7L_HUMAN proteasome (prosome, macropain) subunit, alpha type, 8 78 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2) 16 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) GTGAAGTTTTGACAATTTTTA 0.358000 77 28 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11152120 11152120 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:11152120G>C ENST00000358026.2 + 31 4688 c.4404G>C c.(4402-4404)gaG>gaC p.E1468D SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1406D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1436D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1406D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1406D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1406D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1436D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1403D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1403D|SMARCA4_ENST00000538456.3_3'UTR NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1436 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) AGGACGACGAGAGCAAGAAGC 0.617000 """F, N, Mis""" NSCLC 22 11 0 0 1 0 0 STS 412 broad.mit.edu 37 X 7175544 7175544 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:7175544C>T ENST00000217961.4 + 4 532 c.312C>T c.(310-312)ttC>ttT p.F104F NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 104 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) TTTTCCTCTTCACAGCCTCTT 0.498000 Ichthyosis 4 69 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31568364 31568364 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:31568364C>T ENST00000389082.5 - 12 2753 c.2489G>A c.(2488-2490)aGa>aAa p.R830K DENND5B_ENST00000536562.1_Missense_Mutation_p.R865K|DENND5B_ENST00000306833.6_Missense_Mutation_p.R865K NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 830 RUN 1. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AGATTTTCTTCTTTCTGGTCC 0.333000 4 23 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137704337 137704337 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:137704337G>A ENST00000371817.3 + 47 4147 c.3733G>A c.(3733-3735)Gtg>Atg p.V1245M NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1245 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GACAGGAGACGTGGGCCAGAT 0.537000 45 35 0 0 1 0 0 CHST15 51363 broad.mit.edu 37 10 125801927 125801927 + Missense_Mutation SNP T T G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:125801927T>G ENST00000346248.5 - 4 1565 c.923A>C c.(922-924)tAt>tCt p.Y308S CHST15_ENST00000435907.1_Missense_Mutation_p.Y308S|CHST15_ENST00000421115.1_Missense_Mutation_p.Y308S NM_015892.4 NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 308 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 TTCCACGGGATAGCGGTCTCG 0.537000 41 32 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65270535 65270535 + RNA SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:65270535G>C ENST00000534336.1 + 0 5303 NR_002819.2 GATGAGTTGGGATCAAGTGGA 0.393000 4 18 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111126 7111126 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:7111126G>A ENST00000306904.5 + 1 962 c.775G>A c.(775-777)Gac>Aac p.D259N NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 259 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGCTACAGCGACCGAGACGG 0.662000 19 46 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28906604 28906604 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:28906604G>C ENST00000375664.4 + 13 2239 c.1630G>C c.(1630-1632)Gaa>Caa p.E544Q WAC_ENST00000354911.4_Missense_Mutation_p.E589Q|WAC_ENST00000347934.4_Missense_Mutation_p.E486Q|WAC_ENST00000375646.1_Missense_Mutation_p.E437Q Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 ATTACGCGAAGAAGCGCATAA 0.289000 14 29 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23548812 23548812 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr14:23548812C>G ENST00000262710.1 - 6 2233 c.1906G>C c.(1906-1908)Gag>Cag p.E636Q ACIN1_ENST00000555053.1_Missense_Mutation_p.E636Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.E578Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.E596Q NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 636 Ser-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GATCTGGACTCTGATGTTGAT 0.488000 95 106 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2529730 2529730 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:2529730C>T ENST00000288709.6 - 13 1401 c.1161G>A c.(1159-1161)caG>caA p.Q387Q MMEL1_ENST00000378412.3_Silent_p.Q396Q|MMEL1_ENST00000502556.1_Silent_p.Q239Q NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 396 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CCAGGTAGTTCTGTATGGTCC 0.582000 20 56 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 106038818 106038818 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:106038818C>G ENST00000255499.2 + 7 1412 c.1162C>G c.(1162-1164)Cta>Gta p.L388V RNF128_ENST00000324342.3_Missense_Mutation_p.L362V NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 388 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 AGATGAAAGTCTACAGCTGGT 0.358000 48 54 0 0 1 0 0 AQP2 359 broad.mit.edu 37 12 50344837 50344837 + Missense_Mutation SNP G G T rs144443773 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:50344837G>T ENST00000199280.3 + 1 309 c.224G>T c.(223-225)tGc>tTc p.C75F NM_000486.5 NP_000477.1 P41181 AQP2_HUMAN aquaporin 2 (collecting duct) 75 cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2) 10 ACTGTGGCCTGCCTGGTGGGC 0.647000 11 40 3.07112e-06 3.18732e-06 1 1 0 KIAA1551 55196 broad.mit.edu 37 12 32140179 32140179 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:32140179G>C ENST00000312561.4 + 5 5423 c.5009G>C c.(5008-5010)gGa>gCa p.G1670A KIAA1551_ENST00000535596.1_3'UTR NM_018169.3 NP_060639 KIAA1551 ATAGTTTCAGGAATAAAAAGT 0.289000 10 35 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31023537 31023537 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:31023537C>T ENST00000375687.4 + 13 3446 c.3022C>T c.(3022-3024)Cac>Tac p.H1008Y ASXL1_ENST00000306058.5_Missense_Mutation_p.H1003Y NM_015338.5 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 1008 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CTTTGAAGGTCACCTCACGGA 0.507000 """F, N, Mis""" """MDS, CMML""" 4 113 0 0 1 0 0 TMEM38A 79041 broad.mit.edu 37 19 16790904 16790904 + Silent SNP C C T rs144587502 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:16790904C>T ENST00000187762.2 + 2 325 c.234C>T c.(232-234)atC>atT p.I78I NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 78 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 AGCCACTGATCGATTACTTCA 0.602000 45 74 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12154731 12154731 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:12154731G>A ENST00000602107.1 - 5 1625 c.1626C>T c.(1624-1626)ctC>ctT p.L542L CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Silent_p.L495L|CTD-2006C1.2_ENST00000591838.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 495 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TTTCATGGTAGAGAAAAGAGT 0.393000 21 39 0 0 1 0 0 GAB3 139716 broad.mit.edu 37 X 153944442 153944442 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:153944442C>G ENST00000369575.3 - 2 266 c.235G>C c.(235-237)Gaa>Caa p.E79Q GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.E79Q NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 79 PH. NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTCTGAAATTCCTTCCGAACA 0.502000 89 62 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170063662 170063662 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:170063662C>G ENST00000263816.3 - 39 6853 c.6568G>C c.(6568-6570)Gac>Cac p.D2190H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2190 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTAGGCATGTCCACTGTGACT 0.428000 106 95 0 0 1 0 0 LACTB 114294 broad.mit.edu 37 15 63433729 63433729 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:63433729G>A ENST00000261893.4 + 6 1441 c.1369G>A c.(1369-1371)Gag>Aag p.E457K RPS27L_ENST00000559763.1_Intron NM_032857.3 NP_116246.2 P83111 LACTB_HUMAN lactamase, beta 457 mitochondrion hydrolase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1) 12 TTGGGATAAAGAGGGTAAATA 0.433000 30 70 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056930 120056930 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:120056930C>T ENST00000235547.6 + 4 929 c.790C>T c.(790-792)Cac>Tac p.H264Y HSD3B1_ENST00000369413.3_Missense_Mutation_p.H262Y|HSD3B1_ENST00000528909.1_Missense_Mutation_p.H262Y NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 262 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) TGACACGCCTCACCAAAGCTA 0.522000 136 64 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49692495 49692495 + Nonsense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:49692495G>T ENST00000296452.4 + 5 5620 c.5506G>T c.(5506-5508)Gag>Tag p.E1836* NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1836 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCAGTGCCAGAGCCAGGTGC 0.622000 33 114 7.11191e-15 7.73647e-15 1 1 0 ARID1A 8289 broad.mit.edu 37 1 27106421 27106421 + Missense_Mutation SNP T T G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:27106421T>G ENST00000324856.7 + 20 6403 c.6032T>G c.(6031-6033)cTg>cGg p.L2011R ARID1A_ENST00000540690.1_Missense_Mutation_p.L339R|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1794R|ARID1A_ENST00000374152.2_Missense_Mutation_p.L1628R NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2011 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CTGCTCATCCTGGGCAAGCTG 0.547000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 35 77 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47040469 47040469 + Translation_Start_Site SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:47040469G>A ENST00000383740.2 + 0 3584 NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000450053.3_Silent_p.L1135L Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CGCTGGACCTGCTGCTGGCCC 0.667000 OREG0015546 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 16 0 0 1 0 0 ACADSB 36 broad.mit.edu 37 10 124813245 124813245 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:124813245G>A ENST00000358776.4 + 11 1277 c.1263G>A c.(1261-1263)ttG>ttA p.L421L ACADSB_ENST00000368869.4_Silent_p.L319L NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain 421 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) ACATCCAGTTGAACACCATTG 0.438000 23 93 0 0 1 0 0 IL1RAP 3556 broad.mit.edu 37 3 190366273 190366273 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:190366273G>C ENST00000412504.2 + 11 1744 c.1492G>C c.(1492-1494)Gtc>Ctc p.V498L IL1RAP_ENST00000072516.3_Missense_Mutation_p.V498L|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000439062.1_Missense_Mutation_p.V498L|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.V498L Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 498 TIR. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) CAACATCAACGTCATTTTAGT 0.502000 59 139 0 0 1 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31485480 31485480 + Silent SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:31485480C>A ENST00000394863.3 + 5 463 c.333C>A c.(331-333)atC>atA p.I111I TGFB1I1_ENST00000567607.1_Silent_p.I94I|TGFB1I1_ENST00000361773.3_Silent_p.I94I|TGFB1I1_ENST00000394858.2_Silent_p.I94I NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 111 Interaction with PTK2 (By similarity).|Interaction with PTK2B.|Transcription activation (By similarity). androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 CAGATGAAATCATGTCTCAGT 0.512000 29 24 4.74835e-14 5.13625e-14 1 1 0 SMARCA2 6595 broad.mit.edu 37 9 2104016 2104016 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:2104016C>T ENST00000382203.1 + 23 3348 c.3139C>T c.(3139-3141)Cgg>Tgg p.R1047W SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1047W|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1047W|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1047W P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1047 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TGAACTGTATCGGGCCTCAGG 0.418000 120 93 0 0 1 0 0 GPT 2875 broad.mit.edu 37 8 145731256 145731256 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:145731256C>T ENST00000394955.2 + 6 988 c.765C>T c.(763-765)atC>atT p.I255I GPT_ENST00000528431.1_Silent_p.I255I NM_005309.2 NP_005300.1 P24298 ALAT1_HUMAN glutamic-pyruvate transaminase (alanine aminotransferase) 255 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GCGAGTGCATCGAGGCCGTGA 0.736000 5 12 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50918133 50918133 + Missense_Mutation SNP G G A rs142017093 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:50918133G>A ENST00000440232.2 + 20 2503 c.2450G>A c.(2449-2451)cGg>cAg p.R817Q POLD1_ENST00000599857.1_Missense_Mutation_p.R817Q|POLD1_ENST00000595904.1_Missense_Mutation_p.R843Q NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 817 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) TTCTCCTCCCGGCCCGACGCC 0.667000 DNA polymerases (catalytic subunits) OREG0025635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 49 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56818910 56818910 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:56818910C>T ENST00000229201.4 - 14 1756 c.1602G>A c.(1600-1602)aaG>aaA p.K534K TIMELESS_ENST00000553532.1_Silent_p.K535K|TIMELESS_ENST00000554616.1_Intron NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 535 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 Ccttcttcttcttcttccttc 0.468000 67 36 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43815622 43815622 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:43815622G>A ENST00000382031.1 + 5 2696 c.2665G>A c.(2665-2667)Gat>Aat p.D889N MAP1A_ENST00000300231.5_Missense_Mutation_p.D651N|MAP1A_ENST00000399453.1_Missense_Mutation_p.D651N P78559 MAP1A_HUMAN microtubule-associated protein 1A 651 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGTAAAGGAGGATGTGATAGA 0.473000 15 26 0 0 1 0 0 DHRSX 207063 broad.mit.edu 37 X 2209621 2209621 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:2209621C>T ENST00000334651.5 - 4 362 c.310G>A c.(310-312)Gct>Act p.A104T NM_145177.2 NP_660160.2 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 104 binding|oxidoreductase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GTCATGGAAGCCAAGTCACAG 0.398000 186 150 0 0 1 0 0 FES 2242 broad.mit.edu 37 15 91428341 91428341 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:91428341C>T ENST00000328850.3 + 2 208 c.66C>T c.(64-66)gcC>gcT p.A22A FES_ENST00000450438.2_Silent_p.A22A|FES_ENST00000414248.2_Silent_p.A22A|FES_ENST00000444422.2_Silent_p.A22A|FES_ENST00000394300.3_Silent_p.A22A|FES_ENST00000394302.1_Silent_p.A22A NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 22 FCH.|Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.A22A(1) lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TGCAGGAGGCCGAGCTTCGTC 0.602000 78 125 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25958905 25958905 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:25958905G>A ENST00000356865.6 - 10 2371 c.2260C>T c.(2260-2262)Cgg>Tgg p.R754W NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 754 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AGCGGGTGCCGGATCACCACT 0.607000 31 65 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72423574 72423574 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:72423574C>A ENST00000359373.5 - 6 1638 c.787G>T c.(787-789)Gtg>Ttg p.V263L ARAP1_ENST00000393609.3_Missense_Mutation_p.V263L|ARAP1_ENST00000393605.3_Missense_Mutation_p.V23L|ARAP1_ENST00000426523.1_Missense_Mutation_p.V18L|ARAP1_ENST00000429686.1_Missense_Mutation_p.V18L|ARAP1_ENST00000334211.8_Missense_Mutation_p.V18L|ARAP1_ENST00000455638.2_Missense_Mutation_p.V263L Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 263 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 AGACTGGCCACGCGCACGGCC 0.657000 138 80 3.73298e-82 4.38369e-82 1 1 0 PRX 57716 broad.mit.edu 37 19 40901226 40901226 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:40901226C>T ENST00000324001.7 - 7 3303 c.3033G>A c.(3031-3033)ggG>ggA p.G1011G PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1011 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGAGGTCGGCCCCTGCCACCT 0.647000 72 80 0 0 1 0 0 ASUN 55726 broad.mit.edu 37 12 27068949 27068949 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:27068949C>T ENST00000261191.7 - 11 1770 c.1234G>A c.(1234-1236)Gac>Aac p.D412N ASUN_ENST00000539625.1_Missense_Mutation_p.D311N NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 412 cell division|mitosis|regulation of mitotic cell cycle protein binding ATCCGGTAGTCTGTAACTCTT 0.383000 32 29 0 0 1 0 0 SYCE2 256126 broad.mit.edu 37 19 13015434 13015434 + Missense_Mutation SNP A A C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:13015434A>C ENST00000293695.7 - 3 196 c.178T>G c.(178-180)Ttc>Gtc p.F60V SYCE2_ENST00000591229.1_5'UTR NM_001105578.1 NP_001099048.1 Q6PIF2 SYCE2_HUMAN synaptonemal complex central element protein 2 60 cell division central element endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 AGAGAGGAGAAGTAGAGTCCC 0.542000 8 196 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287423 16287423 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr22:16287423C>A ENST00000343518.6 - 1 514 c.463G>T c.(463-465)Ggc>Tgc p.G155C NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 155 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CCCCAAGGGCCCACTTTGTTC 0.592000 4 121 1.024e-07 1.08026e-07 1 1 0 SEMA6B 10501 broad.mit.edu 37 19 4550226 4550226 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:4550226C>T ENST00000586582.1 - 12 1490 c.1180G>A c.(1180-1182)Gac>Aac p.D394N SEMA6B_ENST00000586965.1_Missense_Mutation_p.D394N|SEMA6B_ENST00000301293.3_Missense_Mutation_p.D394N NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B 394 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TTGAGGATGTCATCCGGCAAG 0.642000 37 31 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77817830 77817830 + Silent SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:77817830G>T ENST00000334306.2 - 1 1172 c.1173C>A c.(1171-1173)ctC>ctA p.L391L NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 391 CCAGATCTTGGAGGGACAGCT 0.577000 30 113 9.78306e-22 1.0889e-21 1 1 0 DAAM2 23500 broad.mit.edu 37 6 39847178 39847178 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:39847178C>T ENST00000538976.1 + 14 1952 c.1770C>T c.(1768-1770)gaC>gaT p.D590D DAAM2_ENST00000274867.4_Silent_p.D590D|DAAM2_ENST00000398904.2_Silent_p.D590D NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 590 FH1.|Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) CCAGCAGTGACGTCCCACTCA 0.652000 32 39 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107435578 107435578 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:107435578C>T ENST00000415149.2 + 5 614 c.287C>T c.(286-288)tCt>tTt p.S96F BBX_ENST00000416476.2_Missense_Mutation_p.S96F|BBX_ENST00000325805.8_Missense_Mutation_p.S96F|BBX_ENST00000406780.1_Missense_Mutation_p.S96F|BBX_ENST00000402543.1_Missense_Mutation_p.S96F NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) CGCCATCGCTCTCTTGTACGT 0.463000 111 68 0 0 1 0 0 REST 5978 broad.mit.edu 37 4 57777573 57777573 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:57777573A>G ENST00000309042.7 + 2 1083 c.769A>G c.(769-771)Aca>Gca p.T257A REST_ENST00000514063.1_3'UTR NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 257 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) CACATACACAACAGTGAGCGA 0.383000 45 40 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157803224 157803224 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:157803224C>G ENST00000368174.4 - 5 893 c.797G>C c.(796-798)gGc>gCc p.G266A NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 266 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ACAGACAGAGCCCCATACGCC 0.567000 47 129 0 0 1 0 0 GPI 2821 broad.mit.edu 37 19 34884660 34884660 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:34884660C>T ENST00000415930.3 + 11 1096 c.926C>T c.(925-927)tCg>tTg p.S309L GPI_ENST00000586425.1_Missense_Mutation_p.S298L|GPI_ENST00000356487.5_Missense_Mutation_p.S298L NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 298 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) CAGCTGCTCTCGGGGGCTCAC 0.602000 74 92 0 0 1 0 0 USO1 8615 broad.mit.edu 37 4 76721825 76721825 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:76721825G>C ENST00000538159.1 + 17 1764 c.1764G>C c.(1762-1764)gaG>gaC p.E588D USO1_ENST00000514213.2_Missense_Mutation_p.E564D O60763 USO1_HUMAN USO1 vesicle transport factor 579 Globular head. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ATTTCATAGAGAAACTAGGAT 0.348000 38 25 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119456222 119456222 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:119456222G>C ENST00000273390.5 + 11 1431 c.1354G>C c.(1354-1356)Gat>Cat p.D452H NM_033364.3 NP_203528 MYCBP-associated, testis expressed 1 GGCACTGTTGGATAAGAAGAA 0.338000 21 68 0 0 1 0 0 ETFDH 2110 broad.mit.edu 37 4 159627494 159627494 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:159627494G>A ENST00000511912.1 + 11 1771 c.1439G>A c.(1438-1440)gGa>gAa p.G480E ETFDH_ENST00000307738.5_Missense_Mutation_p.G433E NM_001281738.1|NM_004453.2 NP_001268667.1|NP_004444.2 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 480 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3) 28 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) ATATTGAGAGGAATGGAGCCG 0.378000 22 30 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100443874 100443874 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:100443874G>A ENST00000395996.1 + 22 3303 c.3192G>A c.(3190-3192)gtG>gtA p.V1064V VPS13B_ENST00000358544.2_Silent_p.V1064V|VPS13B_ENST00000357162.2_Silent_p.V1064V Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1064 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GGAATGCAGTGAAGCATCTCA 0.308000 18 54 0 0 1 0 0 PLA1A 51365 broad.mit.edu 37 3 119344030 119344030 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:119344030G>A ENST00000273371.4 + 9 1144 c.1072G>A c.(1072-1074)Gag>Aag p.E358K PLA1A_ENST00000488919.1_Missense_Mutation_p.E185K|PLA1A_ENST00000494440.1_Missense_Mutation_p.E342K|PLA1A_ENST00000495992.1_Missense_Mutation_p.E342K NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 358 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CACCAACATCGAGGTTACCTT 0.483000 51 27 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65271036 65271036 + RNA SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:65271036G>A ENST00000534336.1 + 0 5804 NR_002819.2 TACATGTTGTGATGTAAATTG 0.269000 36 54 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849061 98849061 + RNA SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:98849061C>T ENST00000554295.1 - 0 1862 NR_033801.1 TGGTGGTTAGCGGGGAGCCGC 0.582000 15 11 0 0 1 0 0 ZNF788 388507 broad.mit.edu 37 19 12223080 12223080 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:12223080C>G ENST00000339302.4 + 3 1355 c.718C>G c.(718-720)Cag>Gag p.Q240E ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000430298.2_3'UTR zinc finger family member 788 endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 2 GAGCGGCCTTCAGGTACATGA 0.398000 19 5 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172029 207172029 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:207172029C>T ENST00000374423.3 + 5 3163 c.2777C>T c.(2776-2778)tCa>tTa p.S926L NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 926 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ATTTTTCATTCAGTGACTGGA 0.318000 18 40 0 0 1 0 0 IQCJ 654502 broad.mit.edu 37 3 158983102 158983102 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:158983102C>T ENST00000482126.1 + 4 414 c.309C>T c.(307-309)ctC>ctT p.L103L IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ_ENST00000451172.1_Silent_p.L130L|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron NM_001197100.1 NP_001184029.1 IQ motif containing J cervix(1)|endometrium(2)|large_intestine(2)|lung(10) 15 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) TGATTCTTCTCTACCTTGACC 0.512000 74 58 0 0 1 0 0 LY6G6D 58530 broad.mit.edu 37 6 31675751 31675751 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:31675751G>A ENST00000503322.1 + 3 489 c.486G>A c.(484-486)ggG>ggA p.G162G XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000375832.4_Silent_p.G162G|LY6G6F_ENST00000556581.1_Silent_p.G162G GGCAGGAAGGGAAGGGTCCCG 0.627000 51 79 0 0 1 0 0 STAMBP 10617 broad.mit.edu 37 2 74074811 74074811 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:74074811G>T ENST00000394070.2 + 5 1176 c.673G>T c.(673-675)Gta>Tta p.V225L STAMBP_ENST00000409707.1_Missense_Mutation_p.V225L|STAMBP_ENST00000536064.1_Intron|STAMBP_ENST00000394073.1_Missense_Mutation_p.V225L|STAMBP_ENST00000339566.3_Missense_Mutation_p.V225L NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein 225 JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 TCACACAACTGTAAGGCCAGC 0.517000 23 153 3.5997e-14 3.90476e-14 1 1 0 NR4A2 4929 broad.mit.edu 37 2 157182439 157182439 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:157182439G>A ENST00000409108.2 - 8 1551 c.1510C>T c.(1510-1512)Cgt>Tgt p.R504C NR4A2_ENST00000539077.1_Silent_p.H549H|NR4A2_ENST00000409572.1_Silent_p.H538H|NR4A2_ENST00000429376.1_Missense_Mutation_p.R441C|NR4A2_ENST00000426264.1_Silent_p.H475H|NR4A2_ENST00000339562.4_Silent_p.H538H P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 0 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.H538H(1) breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 TGAAAGTCACGTGGTCTTTGA 0.463000 28 60 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963539 88963539 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:88963539G>C ENST00000333190.4 + 4 1852 c.1243G>C c.(1243-1245)Gat>Cat p.D415H NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 415 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAAATCTTTAGATAAAACAGA 0.368000 HNSCC(36;0.09) 9 94 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23929191 23929191 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr13:23929191C>G ENST00000382298.3 - 8 2148 c.1560G>C c.(1558-1560)aaG>aaC p.K520N SACS_ENST00000382292.3_Missense_Mutation_p.K520N|SACS_ENST00000402364.1_5'UTR NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 520 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AATCAGAGCTCTTTTCCATCT 0.453000 63 112 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52713085 52713085 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:52713085C>G ENST00000293670.3 - 2 510 c.448G>C c.(448-450)Gag>Cag p.E150Q NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 150 Linker 1.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TGGCAGCACTCGCGGTTTTGG 0.607000 111 62 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150479442 150479442 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:150479442G>A ENST00000369064.3 + 18 2093 c.2059G>A c.(2059-2061)Gat>Aat p.D687N TARS2_ENST00000606933.1_Missense_Mutation_p.D605N|TARS2_ENST00000369054.2_Missense_Mutation_p.D557N NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 687 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TCGGACTCGAGATAATCGTCG 0.522000 35 186 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13660497 13660497 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:13660497C>T ENST00000404922.3 + 7 2152 c.2033C>T c.(2032-2034)cCg>cTg p.P678L FBLN2_ENST00000492059.1_Missense_Mutation_p.P678L|FBLN2_ENST00000535798.1_Missense_Mutation_p.P704L|FBLN2_ENST00000295760.7_Missense_Mutation_p.P678L NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 678 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CTGCCACTGCCGCAGCCCAAT 0.622000 7 19 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2530149 2530149 + Silent SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:2530149G>C ENST00000288709.6 - 12 1335 c.1095C>G c.(1093-1095)gtC>gtG p.V365V MMEL1_ENST00000378412.3_Silent_p.V374V|MMEL1_ENST00000502556.1_Silent_p.V217V NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 374 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GGATGCCATAGACCACCACTT 0.517000 21 72 0 0 1 0 0 RPL22 6146 broad.mit.edu 37 1 6257784 6257785 + Frame_Shift_Ins INS - - T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:6257784_6257785insT ENST00000234875.4 - 2 82_83 c.44_45insA c.(43-45)aagfs p.K15fs RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR NM_000983.3 NP_000974.1 P35268 RL22_HUMAN ribosomal protein L22 15 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|RNA binding|structural constituent of ribosome p.K15fs*5(1) kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 Ovarian(185;0.0634) all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) GAACTTGCTTCTTTTTTTTGCC 0.401 T RUNX1 """AML, CML""" 38 20 --- --- --- --- IGKV1OR2-118 339562 broad.mit.edu 37 2 90458508 90458508 + Frame_Shift_Del DEL A A - TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:90458508delA ENST00000603238.1 + 2 184 c.184delA c.(184-186)aaafs p.K62fs GAAACCAGGGAAAACTCCTAA 0.493 55 299 --- --- --- --- LRFN2 57497 broad.mit.edu 37 6 40400554 40400557 + Frame_Shift_Del DEL TCGA TCGA - TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:40400554_40400557delTCGA ENST00000338305.6 - 2 838_841 c.296_299delTCGA c.(295-300)ctcgagfs p.LE99fs NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 99 cell junction|integral to membrane|postsynaptic membrane p.L99L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GCGGAGGCTCTCGAGGTCCAGAAA 0.603 14 37 --- --- --- --- FAM126A 84668 broad.mit.edu 37 7 23004031 23004040 + Splice_Site DEL TACAAGGCAA TACAAGGCAA - TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:23004031_23004040delTACAAGGCAA ENST00000432176.2 - 8 969_976 c.737_744delTTGCCTTGTA c.(736-744)tttgccttg>t p.FAL246fs FAM126A_ENST00000409923.1_Splice_Site_p.FAL246fs NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 246 cytoplasm|membrane signal transducer activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 ATGAGATACTTACAAGGCAAAATAAATCCC 0.300 32 34 --- --- --- --- GTF2IRD2P1 401375 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 CGTTCTACCAgtttttttttgt 0.441 14 242 --- --- --- --- GAL3ST4 79690 broad.mit.edu 37 7 99758558 99758560 + In_Frame_Del DEL TGT TGT - TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:99758558_99758560delTGT ENST00000360039.4 - 4 844_846 c.452_454delACA c.(451-456)gacagc>ggc p.151_152DS>G GAL3ST4_ENST00000426974.2_In_Frame_Del_p.89_90DS>G|GAL3ST4_ENST00000423751.1_In_Frame_Del_p.T50del|GAL3ST4_ENST00000413800.1_In_Frame_Del_p.151_152DS>G|GAL3ST4_ENST00000411994.1_In_Frame_Del_p.T50del NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 151 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AAAAAGAAGCTGTCAGAAGGCAT 0.512 37 64 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39261881 39261881 + Frame_Shift_Del DEL G G - TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr13:39261881delG ENST00000280481.7 + 1 616 c.400delG c.(400-402)ggcfs p.G134fs NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 134 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTTTGGCCCTGGCGAGGTGCG 0.716 9 17 --- --- --- --- HERC2P9 440248 broad.mit.edu 37 15 28927410 28927411 + RNA INS - - AGGGA TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:28927410_28927411insAGGGA ENST00000528584.1 + 0 1811 NR_036443.1 GGTTTAAAAATagggaagggaa 0.460 3 6 --- --- --- --- SNORD3B-1 26851 broad.mit.edu 37 17 18965277 18965278 + RNA INS - - T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:18965277_18965278insT ENST00000363359.1 + 0 53_54 agaagtttctctgaacgtgtag 0.505 8 1 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)ggadel p.G24del TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 7 91 --- --- --- --- FTX 100302692 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 7 7 --- --- --- ---