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 SH3TC2 79628 broad.mit.edu 37 5 148386534 148386534 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:148386534G>A ENST00000515425.1 - 16 3686 c.3585C>T c.(3583-3585)ctC>ctT p.L1195L SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000502274.1_Silent_p.L57L|SH3TC2_ENST00000512049.1_Silent_p.L1188L NM_024577.3 NP_078853.2 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1195 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGGTGGACAGAGGGACAGGG 0.562000 34 53 0 0 0.0024448 0 0 KRT83 3889 broad.mit.edu 37 12 52709783 52709783 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:52709783C>G ENST00000293670.3 - 7 1218 c.1156G>C c.(1156-1158)Gac>Cac p.D386H AC121757.1_ENST00000594763.1_Missense_Mutation_p.S23C NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 386 Coil 2.|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) CAGGCCATGTCTTGCTTGGCC 0.647000 24 32 0 0 0.00278032 0 0 CDHR2 54825 broad.mit.edu 37 5 176012980 176012980 + Silent SNP C C T rs114350001 by1000genomes TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:176012980C>T ENST00000510636.1 + 20 3034 c.2760C>T c.(2758-2760)gaC>gaT p.D920D CDHR2_ENST00000506348.1_Silent_p.D920D|CDHR2_ENST00000261944.5_Silent_p.D920D NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 920 Cadherin 8. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CCATTGAGGACGTGAATGACA 0.522000 29 50 0 0 0.00209593 0 0 ZSCAN25 221785 broad.mit.edu 37 7 99227079 99227079 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:99227079C>T ENST00000394152.2 + 8 1398 c.1071C>T c.(1069-1071)ttC>ttT p.F357F ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Silent_p.F357F|ZSCAN25_ENST00000262941.6_Silent_p.F285F NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 GGAAAGGATTCAGTCGGAGCT 0.562000 11 18 0 0 0.000978159 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204197245 204197245 + Silent SNP C C T rs142523085 TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:204197245C>T ENST00000272203.3 - 21 3313 c.2997G>A c.(2995-2997)gcG>gcA p.A999A PLEKHA6_ENST00000414478.1_Silent_p.A1019A NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 999 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) AGGCCTCGGTCGCCAGGGCGC 0.662000 12 9 0 0 0.000978159 0 0 SERPINB8 5271 broad.mit.edu 37 18 61647113 61647113 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr18:61647113C>G ENST00000397985.2 + 3 503 c.247C>G c.(247-249)Cag>Gag p.Q83E HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.Q83E|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.Q83E NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 83 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) AACTGGCACTCAGTACTTGCT 0.403000 OREG0025042 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 43 0 0 0.0025221 0 0 GRIN2C 2905 broad.mit.edu 37 17 72847788 72847788 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:72847788G>A ENST00000293190.5 - 4 1187 c.1041C>T c.(1039-1041)ttC>ttT p.F347F GRIN2C_ENST00000347612.4_Silent_p.F347F NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 347 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CACCAGGGCTGAAGGAGAAGT 0.662000 3 4 0 0 6.4e-05 0 0 MED25 81857 broad.mit.edu 37 19 50333088 50333088 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:50333088C>G ENST00000312865.6 + 6 624 c.571C>G c.(571-573)Ctt>Gtt p.L191V MED25_ENST00000538643.1_Intron NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 191 Interaction with the Mediator complex. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) GCTGCCTGCGCTTCGGCTTCT 0.652000 7 9 0 0 0.00198382 0 0 PI4KB 5298 broad.mit.edu 37 1 151265459 151265459 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:151265459C>G ENST00000368875.2 - 13 2936 c.2356G>C c.(2356-2358)Gag>Cag p.E786Q PI4KB_ENST00000368874.4_Missense_Mutation_p.E759Q|PI4KB_ENST00000271657.5_Missense_Mutation_p.E786Q|PI4KB_ENST00000368872.1_Missense_Mutation_p.E759Q|PI4KB_ENST00000529142.1_Missense_Mutation_p.E442Q|PI4KB_ENST00000368873.1_Missense_Mutation_p.E774Q NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 774 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGGAACCTCTCTTTGAGGTTT 0.562000 43 11 0 0 0.00285205 0 0 FGF13 2258 broad.mit.edu 37 X 137715036 137715036 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chrX:137715036G>C ENST00000315930.6 - 5 1374 c.713C>G c.(712-714)tCc>tGc p.S238C FGF13_ENST00000370603.3_Missense_Mutation_p.S248C|FGF13_ENST00000441825.2_Missense_Mutation_p.S219C|FGF13_ENST00000305414.4_Missense_Mutation_p.S185C|FGF13_ENST00000541469.1_Missense_Mutation_p.S192C NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 238 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) GTGGCTCATGGATTTGCCTCC 0.527000 75 7 0 0 0.00361006 0 0 IFNB1 3456 broad.mit.edu 37 9 21077682 21077682 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:21077682C>T ENST00000380232.2 - 1 261 c.187G>A c.(187-189)Gag>Aag p.E63K NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 63 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) TTAATCTCCTCAGGGATGTCA 0.463000 29 24 0 0 0.00106085 0 0 ATP6V1E1 529 broad.mit.edu 37 22 18111393 18111393 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr22:18111393G>A ENST00000253413.5 - 1 191 c.9C>T c.(7-9)ctC>ctT p.L3L ATP6V1E1_ENST00000478963.1_5'UTR|ATP6V1E1_ENST00000399798.2_Silent_p.L3L|ATP6V1E1_ENST00000399796.2_Silent_p.L3L NM_001696.3 NP_001687.1 P36543 VATE1_HUMAN ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 3 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_epithelial(15;0.206) Lung(27;0.19) CAGCATCGCTGAGAGCCATGG 0.612000 78 128 0 0 0.00361006 0 0 WDR78 79819 broad.mit.edu 37 1 67356879 67356879 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:67356879C>T ENST00000371026.3 - 4 656 c.601G>A c.(601-603)Gaa>Aaa p.E201K WDR78_ENST00000371023.3_Missense_Mutation_p.E201K|WDR78_ENST00000371022.3_Missense_Mutation_p.E201K|WDR78_ENST00000431318.1_5'UTR NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 201 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 GATGGTTCTTCCAGGTCTTCT 0.323000 16 61 0 0 0.00400662 0 0 STAT4 6775 broad.mit.edu 37 2 191905832 191905832 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr2:191905832C>G ENST00000392320.2 - 15 1608 c.1294G>C c.(1294-1296)Gaa>Caa p.E432Q STAT4_ENST00000358470.4_Missense_Mutation_p.E432Q|STAT4_ENST00000470708.1_5'UTR NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 432 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) ATCTGTGTTTCAAACGTTATG 0.383000 44 6 0 0 0.00285205 0 0 STAT2 6773 broad.mit.edu 37 12 56744663 56744663 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:56744663C>T ENST00000314128.4 - 11 1067 c.1044G>A c.(1042-1044)gtG>gtA p.V348V STAT2_ENST00000557235.1_Silent_p.V344V|STAT2_ENST00000418572.2_Silent_p.V344V P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 348 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CCTGGAGTCTCACCAGCAGCC 0.527000 18 62 0 0 0.000958276 0 0 HTR3A 3359 broad.mit.edu 37 11 113857253 113857253 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:113857253G>A ENST00000504030.2 + 7 1164 c.719G>A c.(718-720)cGg>cAg p.R240Q HTR3A_ENST00000375498.2_Missense_Mutation_p.R246Q|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Missense_Mutation_p.R246Q|HTR3A_ENST00000299961.5_Missense_Mutation_p.R225Q|HTR3A_ENST00000506841.2_Missense_Mutation_p.R240Q P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 240 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity p.R240Q(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) GTCATCCGCCGGCGGCCCCTC 0.602000 27 37 0 0 0.00127121 0 0 COL4A1 1282 broad.mit.edu 37 13 110823065 110823065 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr13:110823065C>T ENST00000375820.4 - 42 3692 c.3571G>A c.(3571-3573)Gtg>Atg p.V1191M NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1191 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGGAAACCCACCTCACCCTTT 0.567000 21 14 0 0 0.00332997 0 0 PAOX 196743 broad.mit.edu 37 10 135195066 135195066 + Missense_Mutation SNP G G T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr10:135195066G>T ENST00000278060.5 + 3 854 c.771G>T c.(769-771)caG>caT p.Q257H PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.Q257H|PAOX_ENST00000480071.2_Missense_Mutation_p.Q257H NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 395 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) GGTCCTTCCAGGAGGCAGCCT 0.577000 16 2 6.72482e-11 1.59816e-10 0.00316338 1 0 TRIOBP 11078 broad.mit.edu 37 22 38121578 38121578 + Silent SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr22:38121578C>G ENST00000406386.3 + 7 3270 c.3015C>G c.(3013-3015)acC>acG p.T1005T NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1005 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CTCCCCTGACCTCTCCTGAGC 0.652000 81 15 0 0 0.00361006 0 0 SCEL 8796 broad.mit.edu 37 13 78163298 78163298 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr13:78163298C>G ENST00000535157.1 + 9 669 c.499C>G c.(499-501)Cca>Gca p.P167A SCEL_ENST00000377246.3_Missense_Mutation_p.P189A|SCEL_ENST00000349847.3_Missense_Mutation_p.P189A NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 189 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TGTTCACCCTCCAATACCTCC 0.393000 38 31 0 0 0.00148497 0 0 KAT6B 23522 broad.mit.edu 37 10 76735715 76735715 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr10:76735715G>A ENST00000287239.4 + 8 2109 c.1620G>A c.(1618-1620)ctG>ctA p.L540L KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 540 Negatively regulates HAT activity. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding ACAGCCAGCTGAAGGCACTCT 0.537000 21 93 0 0 0.00152264 0 0 TAF7 6879 broad.mit.edu 37 5 140698974 140698974 + Nonsense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:140698974G>C ENST00000313368.5 - 1 1356 c.638C>G c.(637-639)tCa>tGa p.S213* NM_005642.2 NP_005633.2 Q15545 TAF7_HUMAN TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa 213 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGTTCTAATGAGTCATGGCC 0.458000 53 50 0 0 0.00361006 0 0 OR4C15 81309 broad.mit.edu 37 11 55322292 55322292 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:55322292C>T ENST00000314644.2 + 1 510 c.510C>T c.(508-510)gcC>gcT p.A170A NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TCCTCACAGCCATGGCCTATG 0.493000 HNSCC(20;0.049) 38 34 0 0 0.000953801 0 0 FURIN 5045 broad.mit.edu 37 15 91424679 91424679 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr15:91424679G>A ENST00000268171.3 + 16 2235 c.1956G>A c.(1954-1956)caG>caA p.Q652Q NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 652 Cys-rich. cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CCACATGCCAGGGGCCGGCCC 0.667000 30 35 0 0 0.00178596 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530688 140530688 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:140530688G>C ENST00000231136.1 + 1 850 c.850G>C c.(850-852)Gat>Cat p.D284H PCDHB6_ENST00000543635.1_Missense_Mutation_p.D148H NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 284 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.D284N(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTTCAAGTCGATGACGTCAA 0.468000 26 27 0 0 0.00465635 0 0 POT1 25913 broad.mit.edu 37 7 124493045 124493045 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:124493045C>T ENST00000357628.3 - 10 1448 c.850G>A c.(850-852)Gat>Aat p.D284N POT1_ENST00000393329.1_Missense_Mutation_p.D153N NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 284 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 TGATCCACATCAGAGTTACTT 0.368000 6 13 0 0 0.00116845 0 0 ANKHD1 54882 broad.mit.edu 37 5 139908088 139908088 + Missense_Mutation SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:139908088C>A ENST00000297183.6 + 29 5681 c.5557C>A c.(5557-5559)Cac>Aac p.H1853N ANKHD1_ENST00000360839.2_Missense_Mutation_p.H1853N|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.H1853N|ANKHD1_ENST00000544120.1_Missense_Mutation_p.H236N 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) AGCTTATCCTCACCCTCATTT 0.453000 35 76 8.73648e-17 2.10798e-16 0.00428921 1 0 CX3CR1 1524 broad.mit.edu 37 3 39307647 39307647 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:39307647G>A ENST00000541347.1 - 2 593 c.354C>T c.(352-354)ttC>ttT p.F118F CX3CR1_ENST00000358309.3_Silent_p.F150F|CX3CR1_ENST00000399220.2_Silent_p.F118F|CX3CR1_ENST00000542107.1_Silent_p.F118F NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 118 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CGGTGATGAAGAATATGCTTC 0.498000 45 51 0 0 0.0025221 0 0 NYNRIN 57523 broad.mit.edu 37 14 24885119 24885119 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr14:24885119C>T ENST00000382554.3 + 9 4482 c.4164C>T c.(4162-4164)ctC>ctT p.L1388L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1388 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGTGGGAGCTCCTGCCCCTCT 0.627000 46 54 0 0 0.00321405 0 0 SHC1 6464 broad.mit.edu 37 1 154942858 154942858 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:154942858G>A ENST00000448116.2 - 1 365 c.145C>T c.(145-147)Ctg>Ttg p.L49L SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368445.5_Silent_p.L49L|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368449.4_Intron NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 49 activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-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) TCCCCAGGCAGAGGAGGCAGG 0.662000 8 36 0 0 0.00448238 0 0 LILRA6 79168 broad.mit.edu 37 19 54745909 54745909 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:54745909C>T ENST00000440558.2 - 3 396 c.348G>A c.(346-348)gtG>gtA p.V116V LILRA6_ENST00000391735.3_Silent_p.V116V|LILRB3_ENST00000407860.2_Silent_p.V116V|LILRA6_ENST00000396365.2_Silent_p.V116V|LILRA6_ENST00000245621.5_Silent_p.V116V|LILRA6_ENST00000419410.2_Silent_p.V116V|LILRA6_ENST00000270464.5_Silent_p.V116V leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CACCTGTCATCACCAGCTCCA 0.642000 37 247 0 0 0.000953801 0 0 LYZL1 84569 broad.mit.edu 37 10 29599980 29599980 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr10:29599980G>A ENST00000375500.3 + 5 634 c.577G>A c.(577-579)Gtt>Att p.V193I NM_032517.4 NP_115906.3 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 147 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1) 11 Breast(68;0.203) AGGCTGTGAGGTTTCCTAAAC 0.522000 58 96 0 0 0.00361006 0 0 UBE3B 89910 broad.mit.edu 37 12 109921372 109921372 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:109921372C>G ENST00000342494.3 + 3 611 c.16C>G c.(16-18)Cag>Gag p.Q6E UBE3B_ENST00000434735.2_Missense_Mutation_p.Q6E|UBE3B_ENST00000537063.1_Missense_Mutation_p.Q6E|UBE3B_ENST00000280774.5_Missense_Mutation_p.Q6E|UBE3B_ENST00000540230.1_Missense_Mutation_p.Q6E|UBE3B_ENST00000536398.1_Missense_Mutation_p.Q6E|UBE3B_ENST00000340074.5_Missense_Mutation_p.Q6E NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 6 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CACCCTGTCTCAGACCTCGAG 0.517000 17 26 0 0 0.000566183 0 0 CHRNB2 1141 broad.mit.edu 37 1 154542288 154542288 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:154542288G>A ENST00000368476.3 + 3 495 c.231G>A c.(229-231)atG>atA p.M77I NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 77 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) AGCAGATCATGACCACCAATG 0.582000 50 25 0 0 0.00361006 0 0 MED13L 23389 broad.mit.edu 37 12 116421180 116421180 + Missense_Mutation SNP G G A rs113890513 byFrequency TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:116421180G>A ENST00000281928.3 - 21 4903 c.4697C>T c.(4696-4698)tCg>tTg p.S1566L NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1566 Ser-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) ACTACTATTCGAGGTGGGATT 0.542000 OREG0022156 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 41 0 0 0.00074312 0 0 VCAM1 7412 broad.mit.edu 37 1 101200264 101200264 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:101200264G>A ENST00000294728.2 + 8 2100 c.1999G>A c.(1999-2001)Gaa>Aaa p.E667K VCAM1_ENST00000370119.4_Missense_Mutation_p.E605K|VCAM1_ENST00000347652.2_Missense_Mutation_p.E575K|VCAM1_ENST00000370115.1_Missense_Mutation_p.E468K NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 667 Ig-like C2-type 7. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GGGAGTATATGAATGTGAATC 0.378000 8 25 0 0 0.00307968 0 0 FMNL1 752 broad.mit.edu 37 17 43320517 43320517 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:43320517C>G ENST00000331495.3 + 17 2379 c.2043C>G c.(2041-2043)ttC>ttG p.F681L FMNL1_ENST00000587489.1_Missense_Mutation_p.F259L|FMNL1_ENST00000328118.3_Missense_Mutation_p.F681L NM_005892.3 NP_005883 O95466 FMNL_HUMAN formin-like 1 681 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 AGGAACAGTTCAAGACCAAGT 0.607000 43 86 0 0 0.00222228 0 0 RBM8A 9939 broad.mit.edu 37 1 145509174 145509174 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:145509174G>A ENST00000330165.8 + 6 557 c.488G>A c.(487-489)cGa>cAa p.R163Q RBM8A_ENST00000369307.3_Missense_Mutation_p.R162Q NM_005105.3 NP_005096.1 Q9Y5S9 RBM8A_HUMAN RNA binding motif protein 8A 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 mRNA binding|nucleotide binding|protein binding kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGAGGTGGCCGAAGACGCAGC 0.502000 30 14 0 0 0.000953801 0 0 FZD1 8321 broad.mit.edu 37 7 90894640 90894640 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:90894640G>C ENST00000287934.2 + 1 858 c.445G>C c.(445-447)Gag>Cag p.E149Q NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 149 FZ. autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CGCGGGCCTGGAGGTGCACCA 0.602000 24 51 0 0 0.00395357 0 0 E2F5 1875 broad.mit.edu 37 8 86089814 86089814 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr8:86089814G>A ENST00000418930.2 + 1 355 c.159G>A c.(157-159)aaG>aaA p.K53K E2F5_ENST00000416274.2_Silent_p.K53K|E2F5_ENST00000256117.5_Silent_p.K53K|RP11-219B4.3_ENST00000520129.1_RNA Q15329 E2F5_HUMAN E2F transcription factor 5, p130-binding 53 G1 phase of mitotic cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 8 GGCACGAGAAGAGCCTGGGGC 0.751000 9 3 0 0 0.00448238 0 0 ALK 238 broad.mit.edu 37 2 29606678 29606678 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr2:29606678C>T ENST00000389048.3 - 5 2108 c.1202G>A c.(1201-1203)cGa>cAa p.R401Q ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 401 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.R401Q(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CAGGGCCACTCGAAATGGGTT 0.488000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 16 23 0 0 0.000566183 0 0 XPO1 7514 broad.mit.edu 37 2 61726883 61726883 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr2:61726883C>G ENST00000401558.2 - 7 1282 c.555G>C c.(553-555)caG>caC p.Q185H XPO1_ENST00000404992.2_Missense_Mutation_p.Q185H|XPO1_ENST00000406957.1_Missense_Mutation_p.Q185H NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 (CRM1 homolog, yeast) 185 Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) CTTGGGTTATCTGTCCACTAG 0.323000 Mis CLL 21 23 0 0 0.00188189 0 0 TSPYL1 7259 broad.mit.edu 37 6 116600375 116600375 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr6:116600375C>T ENST00000368608.3 - 1 691 c.619G>A c.(619-621)Gag>Aag p.E207K DSE_ENST00000540275.1_Intron NM_003309.3 NP_003300.1 Q9H0U9 TSYL1_HUMAN TSPY-like 1 207 nucleosome assembly nucleolus breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094) aatctatcctcctccgccact 0.592000 17 1 0 0 0.00400662 0 0 SP7 121340 broad.mit.edu 37 12 53723111 53723111 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:53723111G>C ENST00000536324.2 - 3 398 c.115C>G c.(115-117)Ctg>Gtg p.L39V SP7_ENST00000537210.2_Missense_Mutation_p.L21V|SP7_ENST00000303846.3_Missense_Mutation_p.L39V NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 39 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 GCTTTGCCCAGAGTTGTTGAG 0.557000 56 38 0 0 0.00361006 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55062937 55062937 + RNA SNP T T C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:55062937T>C ENST00000526016.1 - 0 700 NR_038174.2 CAGTTCGTACTAGAGTAGCTC 0.433000 6 8 0 0 0.00116845 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102551290 102551290 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr14:102551290C>G ENST00000334701.7 - 6 1356 c.1075G>C c.(1075-1077)Gaa>Caa p.E359Q HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E58Q|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.E237Q NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 237 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) tcttccttttcttcAGCCTCA 0.393000 16 7 0 0 0.00316338 0 0 JAG1 182 broad.mit.edu 37 20 10653478 10653478 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr20:10653478G>A ENST00000254958.5 - 2 773 c.258C>T c.(256-258)gtC>gtT p.V86V NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 86 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CCCCGGCCGTGACGCGGGACT 0.667000 Alagille Syndrome 27 55 0 0 0.00106085 0 0 TBC1D1 23216 broad.mit.edu 37 4 38097664 38097664 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr4:38097664C>T ENST00000261439.4 + 14 2706 c.2351C>T c.(2350-2352)tCa>tTa p.S784L TBC1D1_ENST00000508802.1_Missense_Mutation_p.S878L NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 784 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CCAGGAAGATCAAAAATTAAG 0.433000 43 60 0 0 0.00170553 0 0 NIN 51199 broad.mit.edu 37 14 51224627 51224627 + Nonsense_Mutation SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr14:51224627C>A ENST00000245441.5 - 18 3311 c.3121G>T c.(3121-3123)Gag>Tag p.E1041* NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Nonsense_Mutation_p.E1041*|NIN_ENST00000453196.1_Nonsense_Mutation_p.E1041*|NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Nonsense_Mutation_p.E1041*|NIN_ENST00000382041.3_Nonsense_Mutation_p.E1041* NM_020921.3 NP_065972 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1041 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) ACCTCCTCCTCTCCTATCACC 0.512000 T PDGFRB MPD 92 58 2.18481e-45 5.4379e-45 0.00361006 1 0 STRIP2 57464 broad.mit.edu 37 7 129098206 129098206 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:129098206C>G ENST00000249344.2 + 10 1229 c.1189C>G c.(1189-1191)Ctg>Gtg p.L397V STRIP2_ENST00000435494.2_Missense_Mutation_p.L397V NM_020704.2 NP_065755.1 striatin interacting protein 2 GCAGGACCCTCTGGTGCCACC 0.602000 3 6 0 0 0.000602214 0 0 GUSB 2990 broad.mit.edu 37 7 65444737 65444737 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:65444737G>A ENST00000304895.4 - 3 688 c.558C>T c.(556-558)atC>atT p.I186I GUSB_ENST00000476486.1_Intron|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Silent_p.I186I NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 186 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 TCAGGTATTGGATGGTCCCTG 0.622000 55 28 0 0 0.00361006 0 0 TLR1 7096 broad.mit.edu 37 4 38800200 38800200 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr4:38800200C>G ENST00000308979.2 - 4 526 c.253G>C c.(253-255)Gat>Cat p.D85H TLR1_ENST00000502213.2_Missense_Mutation_p.D85H NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 85 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 ACACTGATATCAAGATACTGG 0.353000 51 63 0 0 0.00361006 0 0 RB1 5925 broad.mit.edu 37 13 48953760 48953760 + Nonsense_Mutation SNP C C T rs121913302 TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr13:48953760C>T ENST00000267163.4 + 14 1501 c.1363C>T c.(1363-1365)Cga>Tga p.R455* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 455 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8)|p.R455*(7) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTGTATTACCGAGTAATGGA 0.358000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 15 5 0 0 0.00400662 0 0 GPR98 84059 broad.mit.edu 37 5 89968409 89968409 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:89968409G>A ENST00000405460.2 + 22 4895 c.4799G>A c.(4798-4800)aGa>aAa p.R1600K GPR98_ENST00000450321.2_3'UTR NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1600 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) GAGAGAACCAGAGGAGCTCTG 0.373000 20 33 0 0 0.00152264 0 0 ADAM2 2515 broad.mit.edu 37 8 39613263 39613263 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr8:39613263G>A ENST00000265708.4 - 16 1884 c.1781C>T c.(1780-1782)tCt>tTt p.S594F ADAM2_ENST00000379853.2_Missense_Mutation_p.S438F|ADAM2_ENST00000347580.4_Missense_Mutation_p.S575F|ADAM2_ENST00000521880.1_Intron NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 594 Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TGAACCACAAGAAGTTCCATC 0.378000 16 6 0 0 0.00316338 0 0 SLFN5 162394 broad.mit.edu 37 17 33592878 33592878 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:33592878C>T ENST00000299977.4 + 5 2795 c.2647C>T c.(2647-2649)Cat>Tat p.H883Y SLFN5_ENST00000542451.1_3'UTR NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 883 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) GGCAAAAAGACATCTGTATAT 0.433000 23 41 0 0 0.00395357 0 0 SLC2A3 6515 broad.mit.edu 37 12 8086445 8086445 + Silent SNP T T C rs141677583 TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:8086445T>C ENST00000075120.7 - 2 309 c.69A>G c.(67-69)caA>caG p.Q23Q NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 23 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) TGTAGCCAAATTGGAAAGAGC 0.448000 OREG0021656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 24 0 0 6.4e-05 0 0 SLC7A10 56301 broad.mit.edu 37 19 33703343 33703343 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:33703343C>G ENST00000253188.4 - 5 789 c.643G>C c.(643-645)Gag>Cag p.E215Q NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) CTCAGCTCCTCGAAGTGTCCT 0.647000 6 24 0 0 0.00116845 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600899 41600899 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:41600899G>A ENST00000330436.3 + 8 1197 c.1197G>A c.(1195-1197)ctG>ctA p.L399L NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 399 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) GCTCCGTGCTGAGAGACCCCA 0.547000 42 37 0 0 0.00222228 0 0 KRTAP13-3 337960 broad.mit.edu 37 21 31798017 31798017 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr21:31798017C>T ENST00000390690.2 - 1 269 c.214G>A c.(214-216)Gag>Aag p.E72K NM_181622.1 NP_853653.1 Q3SY46 KR133_HUMAN keratin associated protein 13-3 72 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 14 GGGCTGGACTCAACACACAAT 0.567000 15 33 0 0 0.00244969 0 0 COL14A1 7373 broad.mit.edu 37 8 121216072 121216072 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr8:121216072C>T ENST00000297848.3 + 9 1272 c.1002C>T c.(1000-1002)ctC>ctT p.L334L COL14A1_ENST00000247781.3_Silent_p.L239L|COL14A1_ENST00000537875.1_Silent_p.L334L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.L334L NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 334 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CCAGGACTCTCTGCTCTAGAG 0.468000 27 15 0 0 0.00127121 0 0 RGL2 5863 broad.mit.edu 37 6 33264224 33264224 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr6:33264224G>C ENST00000497454.1 - 5 932 c.437C>G c.(436-438)tCt>tGt p.S146C RGL2_ENST00000444031.2_Missense_Mutation_p.S64C|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR NM_001243738.1|NM_004761.4 NP_001230667.1|NP_004752.1 O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 146 N-terminal Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 GGTAGGATGAGATTCAAGGGC 0.517000 46 5 0 0 0.00361006 0 0 SNHG14 104472715 broad.mit.edu 37 15 25415898 25415898 + RNA SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr15:25415898C>T ENST00000553149.1 + 0 290 SNORD115-1_ENST00000364961.1_RNA TTATATTATCCTGAAGAGAGG 0.537000 78 163 0 0 0.00361006 0 0 MYO3A 53904 broad.mit.edu 37 10 26414413 26414413 + Nonsense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr10:26414413C>T ENST00000265944.5 + 19 2156 c.1990C>T c.(1990-1992)Cga>Tga p.R664* MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 664 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.R664*(1) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AACAATTATACGACCCAATAC 0.418000 20 43 0 0 0.000958276 0 0 CDCP2 200008 broad.mit.edu 37 1 54610372 54610372 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:54610372C>T ENST00000371330.1 - 2 1041 c.194G>A c.(193-195)gGa>gAa p.G65E RP11-446E24.4_ENST00000525949.1_5'UTR|RP11-446E24.4_ENST00000311841.7_3'UTR NM_201546.2 NP_963840.2 Q5VXM1 CDCP2_HUMAN CUB domain containing protein 2 65 CUB 1. extracellular region kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1) 24 CACCGAGGATCCCTCGGCCAC 0.562000 18 8 0 0 0.00074312 0 0 CATSPER2P1 440278 broad.mit.edu 37 15 44036339 44036339 + RNA SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr15:44036339C>T ENST00000381680.2 - 0 578 NR_002318.2 CATACAATGTCAGTTCTCACG 0.483000 12 7 0 0 0.00136819 0 0 KLRC2 3822 broad.mit.edu 37 12 10583763 10583763 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:10583763C>T ENST00000381902.2 - 6 655 c.649G>A c.(649-651)Gcc>Acc p.A217T NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_Missense_Mutation_p.A158T|KLRC2_ENST00000381901.1_Missense_Mutation_p.A217T NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 217 C-type lectin. cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 CCACACTGGGCTGATTTAAGT 0.323000 33 1 0 0 0.000953801 0 0 C4orf40 401137 broad.mit.edu 37 4 71024438 71024438 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr4:71024438G>C ENST00000344526.5 + 3 658 c.469G>C c.(469-471)Gag>Cag p.E157Q C4orf40_ENST00000502294.1_Missense_Mutation_p.E157Q|C4orf40_ENST00000502441.2_3'UTR NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 157 Ala-rich. extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TGTTGCAGCTGAGCCTGCTGC 0.642000 32 46 0 0 0.001512 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869830 22869830 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr22:22869830C>G ENST00000302097.3 - 2 377 c.125G>C c.(124-126)aGa>aCa p.R42T NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 42 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TTCAGCATCTCTATGTACATG 0.408000 53 51 0 0 0.00361006 0 0 DOCK9 23348 broad.mit.edu 37 13 99481705 99481705 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr13:99481705C>G ENST00000376460.1 - 43 4832 c.4752G>C c.(4750-4752)caG>caC p.Q1584H DOCK9_ENST00000339416.2_Missense_Mutation_p.Q1585H|DOCK9_ENST00000448493.2_3'UTR NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1585 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCTCCTTCATCTGGGCGGTGG 0.552000 8 9 0 0 0.00448238 0 0 RCOR2 283248 broad.mit.edu 37 11 63681949 63681949 + Missense_Mutation SNP C C T rs140081088 TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:63681949C>T ENST00000301459.4 - 6 932 c.545G>A c.(544-546)cGa>cAa p.R182Q NM_173587.3 NP_775858.2 Q8IZ40 RCOR2_HUMAN REST corepressor 2 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R182Q(1) kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 17 CACACTAGTTCGGCTGCGGGT 0.597000 62 48 0 0 0.00361006 0 0 CELA3B 23436 broad.mit.edu 37 1 22307603 22307603 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:22307603C>T ENST00000337107.6 + 4 319 c.300C>T c.(298-300)atC>atT p.I100I NM_007352.2 NP_031378.1 P08861 CEL3B_HUMAN chymotrypsin-like elastase family, member 3B 100 Peptidase S1. cholesterol metabolic process|proteolysis extracellular region serine-type endopeptidase activity breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 AGCAGGTGATCCCCATCAACT 0.637000 OREG0013210 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 51 0 0 0.00278032 0 0 MUC17 140453 broad.mit.edu 37 7 100684456 100684456 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:100684456G>A ENST00000306151.4 + 3 9823 c.9759G>A c.(9757-9759)ttG>ttA p.L3253L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3253 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACACTCCTTTGACCACTTCTA 0.493000 99 113 0 0 0.00361006 0 0 ZNF551 90233 broad.mit.edu 37 19 58198719 58198719 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:58198719G>A ENST00000282296.5 + 3 1261 c.1076G>A c.(1075-1077)gGa>gAa p.G359E ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.G343E|AC003006.7_ENST00000599221.1_Intron Q7Z340 ZN551_HUMAN zinc finger protein 551 359 G -> E (in Ref. 1; BAC03625). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GTTCACACTGGAGAAAGGCCT 0.468000 13 57 0 0 0.00185496 0 0 TRRAP 8295 broad.mit.edu 37 7 98507927 98507927 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:98507927G>A ENST00000359863.4 + 15 1808 c.1599G>A c.(1597-1599)aaG>aaA p.K533K TRRAP_ENST00000446306.3_Silent_p.K533K|TRRAP_ENST00000355540.3_Silent_p.K533K NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 533 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AAGGAGAAAAGGACAAGGAAG 0.592000 16 22 0 0 0.00316338 0 0 CEP290 80184 broad.mit.edu 37 12 88496695 88496695 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:88496695C>T ENST00000552810.1 - 26 3254 c.2911G>A c.(2911-2913)Gaa>Aaa p.E971K CEP290_ENST00000397838.3_Missense_Mutation_p.E31K|CEP290_ENST00000547691.2_Missense_Mutation_p.E31K|CEP290_ENST00000309041.7_Missense_Mutation_p.E973K NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 971 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 GCAGTCAGTTCATTGTACTGT 0.363000 8 7 0 0 0.00448238 0 0 GNAS 2778 broad.mit.edu 37 20 57470707 57470707 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr20:57470707G>A ENST00000371100.4 + 2 2661 c.2109G>A c.(2107-2109)atG>atA p.M703I GNAS_ENST00000371081.1_Missense_Mutation_p.M60I|GNAS_ENST00000371098.2_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.M60I|GNAS_ENST00000306090.10_Missense_Mutation_p.M60I|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.M60I|GNAS_ENST00000371085.3_Missense_Mutation_p.M60I|GNAS_ENST00000371102.4_Missense_Mutation_p.M703I|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.M60I NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 60 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TGAAGCAGATGAGGATCCTGC 0.428000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 49 4 0 0 0.00361006 0 0 EP400 57634 broad.mit.edu 37 12 132466883 132466883 + Nonsense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:132466883C>T ENST00000333577.4 + 6 2006 c.1897C>T c.(1897-1899)Cag>Tag p.Q633* EP400_ENST00000389562.2_Nonsense_Mutation_p.Q596*|EP400_ENST00000332482.4_Nonsense_Mutation_p.Q560*|EP400_ENST00000330386.6_Nonsense_Mutation_p.Q597*|EP400_ENST00000389561.2_Nonsense_Mutation_p.Q597* Q96L91 EP400_HUMAN E1A binding protein p400 633 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGTGAAGACTCAGCAGCCCAA 0.632000 30 70 0 0 0.00127121 0 0 MCM3AP 8888 broad.mit.edu 37 21 47674319 47674319 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr21:47674319C>G ENST00000397708.1 - 20 4377 c.4123G>C c.(4123-4125)Gag>Cag p.E1375Q MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1375Q O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1375 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CCACAACTCTCTGGGGACTGC 0.612000 22 23 0 0 0.00188189 0 0 TRIM41 90933 broad.mit.edu 37 5 180661176 180661176 + Missense_Mutation SNP G G T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:180661176G>T ENST00000315073.5 + 6 2004 c.1294G>T c.(1294-1296)Gac>Tac p.D432Y TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Missense_Mutation_p.D432Y NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 432 B30.2/SPRY. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCCCAAGTGGACCTGACGCT 0.662000 16 7 1.5739e-10 3.72914e-10 0.00400662 1 0 KIAA1522 57648 broad.mit.edu 37 1 33237224 33237224 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:33237224C>T ENST00000401073.2 + 6 2514 c.2444C>T c.(2443-2445)cCg>cTg p.P815L KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P756L|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P767L NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 756 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) GTCAGCTCCCCGGCTGCTTCG 0.647000 6 24 0 0 0.00116845 0 0 DLGAP4 22839 broad.mit.edu 37 20 35128618 35128618 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr20:35128618C>T ENST00000373913.3 + 10 2587 c.2107C>T c.(2107-2109)Cac>Tac p.H703Y DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Missense_Mutation_p.H703Y|DLGAP4_ENST00000340491.4_Missense_Mutation_p.H167Y|DLGAP4_ENST00000373907.2_Missense_Mutation_p.H706Y|DLGAP4_ENST00000339266.5_Missense_Mutation_p.H706Y Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 706 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGTCCCCTCTCACAGTATGTC 0.607000 36 36 0 0 0.000953801 0 0 ATP5F1 515 broad.mit.edu 37 1 111999351 111999351 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:111999351C>T ENST00000369722.3 + 5 1093 c.487C>T c.(487-489)Cgc>Tgc p.R163C ATP5F1_ENST00000483994.1_Missense_Mutation_p.R102C|ATP5F1_ENST00000369721.4_3'UTR NM_001688.4 NP_001679.2 P24539 AT5F1_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 163 ATP catabolic process|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) GGTTCAGAAGCGCCATTACCT 0.403000 32 31 0 0 0.00375469 0 0 CDHR2 54825 broad.mit.edu 37 5 176005567 176005567 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:176005567C>T ENST00000510636.1 + 16 2050 c.1776C>T c.(1774-1776)atC>atT p.I592I CDHR2_ENST00000506348.1_Silent_p.I592I|CDHR2_ENST00000261944.5_Silent_p.I592I NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 592 Cadherin 6. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CCTACAACATCTTCGTCCAGG 0.617000 10 30 0 0 0.00185496 0 0 VCPIP1 80124 broad.mit.edu 37 8 67577453 67577453 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr8:67577453C>G ENST00000310421.4 - 1 1999 c.1741G>C c.(1741-1743)Gat>Cat p.D581H NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 581 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TCCTTACCATCCCAAAAGTGT 0.418000 118 94 0 0 0.00361006 0 0 KIF12 113220 broad.mit.edu 37 9 116854252 116854252 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:116854252C>G ENST00000374118.3 - 16 1668 c.1431G>C c.(1429-1431)caG>caC p.Q477H NM_138424.1 NP_612433.1 Q96FN5 KIF12_HUMAN kinesin family member 12 610 Pro-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 17 CCTCCAGTCTCTGGGCCAGGT 0.677000 13 12 0 0 0.00185496 0 0 RNF14 9604 broad.mit.edu 37 5 141359694 141359694 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:141359694G>C ENST00000394520.2 + 6 1150 c.841G>C c.(841-843)Gag>Cag p.E281Q RNF14_ENST00000394515.3_Missense_Mutation_p.E105Q|RNF14_ENST00000394519.1_Missense_Mutation_p.E281Q|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394514.2_Missense_Mutation_p.E155Q|RNF14_ENST00000356143.1_Missense_Mutation_p.E281Q|RNF14_ENST00000347642.3_Missense_Mutation_p.E281Q NM_001201365.1|NM_004290.4 NP_001188294.1|NP_004281.1 Q9UBS8 RNF14_HUMAN ring finger protein 14 281 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding p.E281Q(1) cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) CCAGGTCAAAGAGTTAGTGGA 0.507000 34 35 0 0 0.00209593 0 0 ZNF551 90233 broad.mit.edu 37 19 58198004 58198004 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:58198004G>A ENST00000282296.5 + 3 546 c.361G>A c.(361-363)Gag>Aag p.E121K ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000356715.4_Missense_Mutation_p.E105K|AC003006.7_ENST00000599221.1_Intron Q7Z340 ZN551_HUMAN zinc finger protein 551 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GCCTGCGGCTGAGCACCAAAC 0.483000 21 59 0 0 0.00188189 0 0 HIP1R 9026 broad.mit.edu 37 12 123345274 123345274 + Silent SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:123345274C>G ENST00000253083.4 + 28 2834 c.2709C>G c.(2707-2709)ctC>ctG p.L903L NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 903 I/LWEQ.|Important for actin binding. receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) ATGAGGAGCTCATCGTCTGCT 0.667000 OREG0022225 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 15 0 0 0.00229938 0 0 EP300 2033 broad.mit.edu 37 22 41521961 41521961 + Nonsense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr22:41521961C>T ENST00000263253.7 + 3 2042 c.823C>T c.(823-825)Cag>Tag p.Q275* NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 275 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 TCTCCAGATTCAGACAAAAAC 0.433000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 32 7 0 0 0.001512 0 0 STRBP 55342 broad.mit.edu 37 9 125941507 125941507 + Splice_Site SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:125941507C>T ENST00000447404.2 - 3 308 c.e3-1 STRBP_ENST00000348403.5_Splice_Site|STRBP_ENST00000360998.3_Splice_Site Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 GAATAGATCTCTGTTAGAAGG 0.368000 6 10 0 0 0.00116845 0 0 SMC1A 8243 broad.mit.edu 37 X 53432541 53432541 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chrX:53432541G>A ENST00000322213.4 - 11 1922 c.1795C>T c.(1795-1797)Cgc>Tgc p.R599C SMC1A_ENST00000375340.6_Missense_Mutation_p.R365C NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 599 Flexible hinge. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 GGCTCATAGCGAATCACATCA 0.532000 25 0 0 0 0.00465635 0 0 VCAM1 7412 broad.mit.edu 37 1 101203682 101203682 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:101203682G>C ENST00000294728.2 + 9 2164 c.2063G>C c.(2062-2064)aGa>aCa p.R688T VCAM1_ENST00000370119.4_Missense_Mutation_p.R626T|VCAM1_ENST00000347652.2_Missense_Mutation_p.R596T|VCAM1_ENST00000370115.1_Missense_Mutation_p.R489T NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 688 heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TTTCCAGGAAGAGAAAACAAC 0.313000 15 60 0 0 0.00316338 0 0 DIDO1 11083 broad.mit.edu 37 20 61537309 61537309 + Silent SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr20:61537309C>A ENST00000266070.4 - 6 1843 c.1518G>T c.(1516-1518)gcG>gcT p.A506A DIDO1_ENST00000395340.1_Silent_p.A506A|DIDO1_ENST00000370371.4_Silent_p.A506A|DIDO1_ENST00000395335.2_Silent_p.A506A|DIDO1_ENST00000370368.1_Silent_p.A506A|DIDO1_ENST00000395343.1_Silent_p.A506A|DIDO1_ENST00000354665.4_Silent_p.A506A|DIDO1_ENST00000370366.1_Silent_p.A506A|DIDO1_ENST00000266071.5_Silent_p.A506A NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 506 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TGTGATCGCTCGCCCACGACG 0.532000 6 182 0.00198382 0.00452379 0.00198382 1 0 ZSCAN25 221785 broad.mit.edu 37 7 99217242 99217242 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:99217242C>T ENST00000394152.2 + 4 340 c.13C>T c.(13-15)Cat>Tat p.H5Y ZSCAN25_ENST00000334715.3_Missense_Mutation_p.H5Y|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.H5Y NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 GCTTAAAGAGCATCCAGAGAT 0.522000 45 41 0 0 0.0025221 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146435248 146435248 + Missense_Mutation SNP G G T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:146435248G>T ENST00000394414.1 - 1 342 c.54C>A c.(52-54)ttC>ttA p.F18L PPP2R2B_ENST00000394410.2_Intron|PPP2R2B_ENST00000356826.3_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.S20Y|PPP2R2B_ENST00000504198.1_Intron|PPP2R2B_ENST00000394409.3_Intron Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 0 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGCTGGAAGAAAGGATGGT 0.463000 11 14 2.27111e-07 5.28586e-07 0.00136819 1 0 TRPC6 7225 broad.mit.edu 37 11 101359740 101359740 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:101359740G>A ENST00000344327.3 - 4 1645 c.1221C>T c.(1219-1221)ttC>ttT p.F407F TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Silent_p.F407F|TRPC6_ENST00000360497.4_Intron NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 407 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GGACCACAAGGAACTTGACCG 0.478000 30 16 0 0 0.00127121 0 0 FANCD2OS 115795 broad.mit.edu 37 3 10145993 10145993 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:10145993G>A ENST00000450660.2 - 2 682 c.466C>T c.(466-468)Ctg>Ttg p.L156L FANCD2OS_ENST00000524279.1_Silent_p.L156L NM_001164839.1 NP_001158311.1 FANCD2 opposite strand ATAGAGCGCAGCATCTGTTTG 0.473000 25 29 0 0 0.00395357 0 0 KANSL3 55683 broad.mit.edu 37 2 97285101 97285101 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr2:97285101C>T ENST00000599854.1 - 5 864 c.397G>A c.(397-399)Ggg>Agg p.G133R KANSL3_ENST00000431828.1_Missense_Mutation_p.G220R|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000435669.1_Missense_Mutation_p.G133R|KANSL3_ENST00000440133.1_Missense_Mutation_p.G14R|KANSL3_ENST00000441706.2_Missense_Mutation_p.G133R NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 220 CTTACCTTCCCCTTCAGCGTC 0.567000 7 11 0 0 0.00307968 0 0 EIF2B5 8893 broad.mit.edu 37 3 183859808 183859808 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:183859808G>C ENST00000273783.3 + 8 1374 c.1252G>C c.(1252-1254)Gag>Cag p.E418Q EIF2B5_ENST00000444495.1_Missense_Mutation_p.E418Q NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 418 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TGACAATGCTGAGGTCAAGGA 0.552000 17 41 0 0 0.00074312 0 0 TXNRD3NB 645840 broad.mit.edu 37 3 126291189 126291189 + Missense_Mutation SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:126291189C>A ENST00000383572.2 - 3 676 c.198G>T c.(196-198)aaG>aaT p.K66N TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.K66N NM_001039783.1 NP_001034872.1 Q6F5E7 TR3N_HUMAN thioredoxin reductase 3 neighbor 66 endometrium(1)|large_intestine(2)|skin(2) 5 TCAGTAGTCTCTTAATCTCTT 0.557000 19 40 3.51602e-12 8.38108e-12 0.00121646 1 0 FBF1 85302 broad.mit.edu 37 17 73916101 73916101 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:73916101C>T ENST00000586717.1 - 18 2149 c.1876G>A c.(1876-1878)Gag>Aag p.E626K FBF1_ENST00000319129.5_Missense_Mutation_p.E625K|FBF1_ENST00000389570.4_Missense_Mutation_p.E626K A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 625 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 TGTGCACTCTCGATGAGCTCC 0.642000 8 10 0 0 0.00307968 0 0 OR1L6 392390 broad.mit.edu 37 9 125512283 125512283 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:125512283G>A ENST00000373684.1 + 1 265 c.265G>A c.(265-267)Gac>Aac p.D89N OR1L6_ENST00000304720.2_Missense_Mutation_p.D53N Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 CATCTACTCTGACCCCAGGCT 0.493000 34 47 0 0 0.00283554 0 0 GABRA1 2554 broad.mit.edu 37 5 161318038 161318038 + Missense_Mutation SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:161318038C>A ENST00000428797.2 + 9 1193 c.838C>A c.(838-840)Cca>Aca p.P280T GABRA1_ENST00000420560.1_Missense_Mutation_p.P280T|GABRA1_ENST00000437025.2_Missense_Mutation_p.P280T|GABRA1_ENST00000023897.6_Missense_Mutation_p.P280T|GABRA1_ENST00000393943.4_Missense_Mutation_p.P280T|GABRA1_ENST00000444819.1_Missense_Mutation_p.P280T NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 280 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) 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;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) AGAGTCTGTACCAGCAAGAAC 0.408000 21 28 1.55795e-14 3.74762e-14 0.00188189 1 0 NNT 23530 broad.mit.edu 37 5 43644722 43644722 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:43644722C>G ENST00000264663.5 + 9 1329 c.1108C>G c.(1108-1110)Cac>Gac p.H370D NNT_ENST00000344920.4_Missense_Mutation_p.H370D|NNT_ENST00000512996.2_Missense_Mutation_p.H239D NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 370 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) GGGAATTACTCACATAGGCTA 0.418000 17 22 0 0 0.00400662 0 0 RSAD2 91543 broad.mit.edu 37 2 7027268 7027268 + Missense_Mutation SNP C C G rs143741204 TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr2:7027268C>G ENST00000382040.3 + 3 847 c.711C>G c.(709-711)atC>atG p.I237M RSAD2_ENST00000541728.1_Missense_Mutation_p.I130M NM_080657.4 NP_542388.2 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 2 237 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1) 20 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) CGGAACAGATCAAAGCACTAA 0.403000 9 20 0 0 0.000442599 0 0 MKRN2 23609 broad.mit.edu 37 3 12616308 12616308 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:12616308C>T ENST00000170447.7 + 5 797 c.660C>T c.(658-660)ttC>ttT p.F220F MKRN2_ENST00000448482.1_Silent_p.F218F|MKRN2_ENST00000411987.1_Silent_p.F177F NM_001271707.1|NM_014160.3 NP_001258636.1|NP_054879.3 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 220 Makorin-type Cys-His. intracellular ligase activity|nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3) 16 TGTTGACGTTCGAACACGAGA 0.542000 38 48 0 0 0.00148497 0 0 JMJD1C 221037 broad.mit.edu 37 10 64966700 64966700 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr10:64966700C>G ENST00000399262.2 - 10 4947 c.4729G>C c.(4729-4731)Gaa>Caa p.E1577Q JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1395Q|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E1358Q|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1358Q NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1577 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) TTAATAATTTCTGATACAGAA 0.313000 27 6 0 0 0.000878237 0 0 MRPL23 6150 broad.mit.edu 37 11 1973375 1973375 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:1973375C>T ENST00000381514.3 + 3 181 c.159C>T c.(157-159)ctC>ctT p.L53L MRPL23_ENST00000397297.3_Silent_p.L53L|MRPL23_ENST00000397298.3_Silent_p.L53L|MRPL23_ENST00000381519.1_Silent_p.L53L|MRPL23_ENST00000397294.3_Silent_p.L53L Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 53 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|lung(1)|ovary(1) 4 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) GGGTGGACCTCAGGAATTACC 0.547000 12 22 0 0 0.000978159 0 0 UBLCP1 134510 broad.mit.edu 37 5 158705341 158705341 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:158705341G>C ENST00000296786.6 + 9 1106 c.780G>C c.(778-780)atG>atC p.M260I NM_145049.3 NP_659486.2 Q8WVY7 UBCP1_HUMAN ubiquitin-like domain containing CTD phosphatase 1 260 FCP1 homology. nucleus phosphoprotein phosphatase activity endometrium(1)|kidney(3)|large_intestine(4)|ovary(1) 9 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATTTTCTAATGAACCCACAGA 0.368000 31 36 0 0 0.00283554 0 0 FGF9 2254 broad.mit.edu 37 13 22246302 22246302 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr13:22246302G>A ENST00000382353.5 + 1 781 c.251G>A c.(250-252)gGa>gAa p.G84E NM_002010.2 NP_002001.1 P31371 FGF9_HUMAN fibroblast growth factor 9 84 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) ACTATCCAGGGAACCAGGAAA 0.458000 30 50 0 0 0.00209593 0 0 NPAP1 23742 broad.mit.edu 37 15 24923370 24923370 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr15:24923370C>T ENST00000329468.2 + 1 2830 c.2356C>T c.(2356-2358)Ctc>Ttc p.L786F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GAAAACCTCTCTCCCCAGTGC 0.552000 61 130 0 0 0.00361006 0 0 PHF12 57649 broad.mit.edu 37 17 27251024 27251024 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:27251024C>T ENST00000577226.1 - 4 964 c.618G>A c.(616-618)ctG>ctA p.L206L PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.L206L|PHF12_ENST00000268756.3_Silent_p.L206L Q96QT6 PHF12_HUMAN PHD finger protein 12 206 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) AGGGCCGCCTCAGCTGGGGCT 0.562000 16 13 0 0 0.00400662 0 0 COL6A6 131873 broad.mit.edu 37 3 130285937 130285937 + Missense_Mutation SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:130285937C>A ENST00000358511.6 + 4 1705 c.1674C>A c.(1672-1674)aaC>aaA p.N558K COL6A6_ENST00000453409.2_Missense_Mutation_p.N558K NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 558 Nonhelical region.|VWFA 3. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AGCCTGCAAACAGACTGAGAG 0.463000 37 53 7.53189e-24 1.84555e-23 0.00170553 1 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 12 0 0 0 0.00185496 0 0 MSLNL 401827 broad.mit.edu 37 16 830500 830500 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr16:830500G>A ENST00000293892.3 - 3 500 c.501C>T c.(499-501)caC>caT p.H167H MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GGGCACGCATGTGTAGGTGAC 0.562000 81 13 0 0 0.00361006 0 0 CLK2 1196 broad.mit.edu 37 1 155233800 155233800 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:155233800C>G ENST00000368361.4 - 12 1573 c.1258G>C c.(1258-1260)Gat>Cat p.D420H CLK2_ENST00000355560.4_Missense_Mutation_p.D418H|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.D419H|CLK2_ENST00000536801.1_Missense_Mutation_p.D420H P49760 CLK2_HUMAN CDC-like kinase 2 420 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCATCCCAATCCAGGCGACCC 0.522000 Other conserved DNA damage response genes 26 127 0 0 0.001512 0 0 RASIP1 54922 broad.mit.edu 37 19 49230267 49230267 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:49230267C>G ENST00000222145.4 - 7 2224 c.2020G>C c.(2020-2022)Gag>Cag p.E674Q NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 674 Dilute. signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) AGCTCACCCTCTTGGTCAGCC 0.597000 39 17 0 0 0.00170553 0 0 CXXC1 30827 broad.mit.edu 37 18 47812480 47812480 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr18:47812480G>A ENST00000285106.6 - 4 1085 c.371C>T c.(370-372)tCa>tTa p.S124L CXXC1_ENST00000589940.1_Missense_Mutation_p.S124L|CXXC1_ENST00000412036.2_Missense_Mutation_p.S124L NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 124 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 CCCTGTCCCTGACCCTGCCCG 0.682000 38 67 0 0 0.00428921 0 0 LRRC17 10234 broad.mit.edu 37 7 102574390 102574390 + Silent SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:102574390C>G ENST00000249377.4 + 2 311 c.30C>G c.(28-30)ctC>ctG p.L10L FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000339431.4_Silent_p.L10L|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000455112.2_Intron NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 10 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 TAATCTTGCTCTGCTTTTGCA 0.532000 6 10 0 0 0.00116845 0 0 LEKR1 389170 broad.mit.edu 37 3 156711062 156711062 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:156711062G>A ENST00000470811.1 + 10 1528 c.193G>A c.(193-195)Gaa>Aaa p.E65K LEKR1_ENST00000356539.4_Missense_Mutation_p.E369K D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 74 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) ACTGAAAAATGAAAGGTGCAG 0.294000 8 19 0 0 0.00307968 0 0 SLC38A2 54407 broad.mit.edu 37 12 46756099 46756099 + Missense_Mutation SNP T T G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:46756099T>G ENST00000256689.5 - 15 1834 c.1390A>C c.(1390-1392)Aaa>Caa p.K464Q SLC38A2_ENST00000551374.1_Missense_Mutation_p.K302Q NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 464 cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) ATAGGTTCTTTCTTCACCAAC 0.313000 3 3 0 0 0.00024832 0 0 KDM2B 84678 broad.mit.edu 37 12 121932456 121932456 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:121932456C>G ENST00000377069.4 - 12 1973 c.1567G>C c.(1567-1569)Gag>Cag p.E523Q KDM2B_ENST00000377071.4_Missense_Mutation_p.E554Q|KDM2B_ENST00000538046.2_Missense_Mutation_p.E464Q|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000536437.1_Missense_Mutation_p.E437Q NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 554 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 TCTGCGTGCTCCTTCAGGACG 0.557000 OREG0022202 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 10 0 0 0.00307968 0 0 NECAP2 55707 broad.mit.edu 37 1 16767305 16767305 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:16767305C>T ENST00000337132.5 + 1 139 c.49C>T c.(49-51)Cac>Tac p.H17Y NECAP2_ENST00000457722.2_Intron|NECAP2_ENST00000443980.2_Missense_Mutation_p.H17Y|NECAP2_ENST00000504551.2_Missense_Mutation_p.H17Y|NECAP2_ENST00000406746.1_Missense_Mutation_p.H17Y|NECAP2_ENST00000486390.1_3'UTR NM_001145278.1|NM_018090.4 NP_001138750.1|NP_060560.1 Q9NVZ3 NECP2_HUMAN NECAP endocytosis associated 2 17 endocytosis|protein transport clathrin vesicle coat|coated pit|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649) GCCTGACGTCCACGTCTACCG 0.632000 OREG0013136 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 20 0 0 0.00116845 0 0 DONSON 29980 broad.mit.edu 37 21 34954538 34954538 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr21:34954538G>C ENST00000453626.1 - 6 983 c.979C>G c.(979-981)Ctg>Gtg p.L327V DONSON_ENST00000303113.6_Missense_Mutation_p.L313V|DONSON_ENST00000432378.1_Missense_Mutation_p.L327V|DONSON_ENST00000303071.5_Missense_Mutation_p.L327V Q9NYP3 DONS_HUMAN downstream neighbor of SON 327 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 ATTAAAGGCAGAGAAAATTCA 0.323000 26 19 0 0 0.00332997 0 0 BTF3L4 91408 broad.mit.edu 37 1 52530608 52530608 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:52530608G>C ENST00000313334.8 + 3 434 c.166G>C c.(166-168)Gag>Cag p.E56Q BTF3L4_ENST00000489308.2_Missense_Mutation_p.E56Q|BTF3L4_ENST00000484036.1_Missense_Mutation_p.E56Q|BTF3L4_ENST00000472944.2_5'UTR|BTF3L4_ENST00000533836.1_3'UTR NM_152265.4 NP_689478.1 Q96K17 BT3L4_HUMAN basic transcription factor 3-like 4 56 NAC-A/B. endometrium(2)|kidney(1)|large_intestine(2) 5 TGGTATTGAAGAGGTATGATC 0.358000 8 6 0 0 0.00448238 0 0 PRC1 9055 broad.mit.edu 37 15 91517446 91517446 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr15:91517446C>G ENST00000361188.5 - 11 2592 c.1381G>C c.(1381-1383)Gag>Cag p.E461Q PRC1_ENST00000394249.3_Missense_Mutation_p.E461Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.E461Q|PRC1_ENST00000442656.2_Missense_Mutation_p.E420Q O43663 PRC1_HUMAN protein regulator of cytokinesis 1 461 Spectrin-fold. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) TACAGCATCTCTGTCTCTGTC 0.512000 44 27 0 0 0.00361006 0 0 RASA3 22821 broad.mit.edu 37 13 114762072 114762072 + Silent SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr13:114762072C>A ENST00000334062.7 - 21 2197 c.2076G>T c.(2074-2076)ctG>ctT p.L692L RASA3_ENST00000389544.4_Silent_p.L660L NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 692 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) AGTGGCCGCTCAGGTAGGCGG 0.647000 24 19 2.70639e-06 6.26201e-06 0.00229938 1 0 CSRP2BP 57325 broad.mit.edu 37 20 18139778 18139778 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr20:18139778G>C ENST00000435364.3 + 4 892 c.551G>C c.(550-552)gGa>gCa p.G184A CSRP2BP_ENST00000377681.3_Missense_Mutation_p.G184A|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.G56A 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 CTCAGCGTGGGAAGTCCCATG 0.473000 11 40 0 0 0.000673444 0 0 GALNT7 51809 broad.mit.edu 37 4 174090010 174090010 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr4:174090010C>G ENST00000265000.4 + 1 107 c.24C>G c.(22-24)atC>atG p.I8M GALNT7_ENST00000512285.1_Missense_Mutation_p.I8M|RP11-10K16.1_ENST00000500914.2_RNA|RP11-10K16.1_ENST00000510523.1_RNA|RP11-10K16.1_ENST00000499322.2_RNA NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 8 protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) TTGGGTTCATCTTACGCAGTT 0.662000 5 19 0 0 0.000602214 0 0 LRRC8A 56262 broad.mit.edu 37 9 131671269 131671269 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:131671269C>T ENST00000259324.5 + 3 2349 c.1826C>T c.(1825-1827)tCc>tTc p.S609F LRRC8A_ENST00000372600.4_Missense_Mutation_p.S609F|LRRC8A_ENST00000372599.3_Missense_Mutation_p.S609F NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 609 pre-B cell differentiation integral to membrane p.S609C(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 ATCCCCCACTCCATCTTCAGC 0.567000 25 32 0 0 0.00332997 0 0 CNTRL 11064 broad.mit.edu 37 9 123911080 123911080 + Nonsense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:123911080C>G ENST00000373855.1 + 24 3850 c.3590C>G c.(3589-3591)tCa>tGa p.S1197* CNTRL_ENST00000238341.5_Nonsense_Mutation_p.S1197*|CNTRL_ENST00000373850.1_Nonsense_Mutation_p.S645*|CNTRL_ENST00000373847.1_Nonsense_Mutation_p.S645* Q7Z7A1 CNTRL_HUMAN centriolin 1197 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 CCCCCTGCCTCAGGATACTGG 0.498000 16 18 0 0 0.00400662 0 0 ACTN3 89 broad.mit.edu 37 11 66330698 66330698 + RNA SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:66330698G>A ENST00000513398.1 + 0 2837 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 GCAAGATGGAGAGAGGATGCA 0.582000 11 19 0 0 0.00185496 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 4 84 0 0 0.00198382 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 42 0 0 6.4e-05 0 0 DGCR14 8220 broad.mit.edu 37 22 19122640 19122640 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr22:19122640C>T ENST00000252137.6 - 9 1127 c.1084G>A c.(1084-1086)Gag>Aag p.E362K NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 362 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) GCAGCGGCCTCGTTGGCCATC 0.662000 38 69 0 0 0.00170553 0 0 CHI3L2 1117 broad.mit.edu 37 1 111784890 111784890 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:111784890C>G ENST00000445067.2 + 12 1848 c.1077C>G c.(1075-1077)atC>atG p.I359M CHI3L2_ENST00000524472.1_Missense_Mutation_p.I280M|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000466741.1_Missense_Mutation_p.I280M|CHI3L2_ENST00000369748.4_Missense_Mutation_p.I359M|CHI3L2_ENST00000369744.2_Missense_Mutation_p.I349M Q15782 CH3L2_HUMAN chitinase 3-like 2 359 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) GAGCCATGATCTGGTCTATTG 0.498000 23 46 0 0 0.00278032 0 0 UBR4 23352 broad.mit.edu 37 1 19411123 19411123 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:19411123G>C ENST00000375267.2 - 102 14886 c.14883C>G c.(14881-14883)atC>atG p.I4961M UBR4_ENST00000543981.1_Missense_Mutation_p.I625M|UBR4_ENST00000375217.2_Missense_Mutation_p.I4954M|UBR4_ENST00000375224.1_Missense_Mutation_p.I668M|UBR4_ENST00000429347.2_Missense_Mutation_p.I484M|UBR4_ENST00000375226.2_Missense_Mutation_p.I4937M|UBR4_ENST00000375254.3_Missense_Mutation_p.I4961M Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 4961 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGAGCAGTTTGATGTCATGGA 0.552000 17 11 0 0 0.000958276 0 0 TMEM55A 55529 broad.mit.edu 37 8 92052944 92052944 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr8:92052944G>C ENST00000285419.3 - 1 348 c.34C>G c.(34-36)Ctg>Gtg p.L12V NM_018710.2 NP_061180.1 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 12 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) GCTGACAGCAGAGGCGAGCGT 0.657000 26 28 0 0 0.000878237 0 0 KRT84 3890 broad.mit.edu 37 12 52775216 52775216 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:52775216C>T ENST00000257951.3 - 5 1072 c.1006G>A c.(1006-1008)Gag>Aag p.E336K RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 336 Coil 2.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GCCTTGACCTCAGCAATGATC 0.577000 79 66 0 0 0.00361006 0 0 LRRC8A 56262 broad.mit.edu 37 9 131671342 131671342 + Silent SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:131671342C>A ENST00000259324.5 + 3 2422 c.1899C>A c.(1897-1899)atC>atA p.I633I LRRC8A_ENST00000372600.4_Silent_p.I633I|LRRC8A_ENST00000372599.3_Silent_p.I633I NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 633 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 AGGAGATCATCAGCTTCCAGC 0.577000 14 18 0.00185496 0.00424221 0.00185496 1 0 ZNF263 10127 broad.mit.edu 37 16 3339669 3339669 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr16:3339669C>G ENST00000219069.5 + 6 2039 c.1163C>G c.(1162-1164)tCt>tGt p.S388C ZNF263_ENST00000538765.1_Missense_Mutation_p.S36C|ZNF263_ENST00000574253.1_Missense_Mutation_p.L222V NM_005741.4 NP_005732.2 O14978 ZN263_HUMAN zinc finger protein 263 388 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 AAAAATTTCTCTAACAACTCA 0.488000 42 9 0 0 0.00285205 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38645343 38645343 + RNA SNP C C T rs75687299 by1000genomes TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr10:38645343C>T ENST00000494540.1 + 0 36 NR_003086.1 AAAGCAGCGGCGGCGTTTGCT 0.597000 6 13 0 0 0.000442599 0 0 ZNF800 168850 broad.mit.edu 37 7 127013513 127013513 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:127013513G>A ENST00000393313.1 - 5 2468 c.1877C>T c.(1876-1878)gCa>gTa p.A626V ZNF800_ENST00000265827.3_Missense_Mutation_p.A626V|ZNF800_ENST00000485577.1_5'UTR|ZNF800_ENST00000393312.1_Missense_Mutation_p.A626V Q2TB10 ZN800_HUMAN zinc finger protein 800 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TTTGGCAAATGCCTTTCCACA 0.363000 18 14 0 0 0.00121646 0 0 DNAH5 1767 broad.mit.edu 37 5 13751269 13751269 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:13751269C>T ENST00000265104.4 - 65 11233 c.11129G>A c.(11128-11130)cGt>cAt p.R3710H NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3710 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GATGGAGGTACGGGCACTTAT 0.478000 Kartagener syndrome 30 40 0 0 0.00127121 0 0 FCGBP 8857 broad.mit.edu 37 19 40368625 40368625 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:40368625G>A ENST00000221347.6 - 28 12730 c.12723C>T c.(12721-12723)atC>atT p.I4241I NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4241 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGCCGCCCCAGATGGGTATGG 0.637000 34 136 0 0 0.00148497 0 0 NRXN2 9379 broad.mit.edu 37 11 64416272 64416272 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:64416272C>T ENST00000265459.6 - 16 3678 c.3217G>A c.(3217-3219)Gga>Aga p.G1073R NRXN2_ENST00000377559.3_Missense_Mutation_p.G1033R|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.G1066R|NRXN2_ENST00000377551.1_Missense_Mutation_p.G1073R NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1073 Laminin G-like 5. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GGGAGACGTCCGTTGAGGTCC 0.627000 25 39 0 0 0.00465635 0 0 TAOK3 51347 broad.mit.edu 37 12 118671555 118671555 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:118671555C>T ENST00000392533.3 - 9 1057 c.567G>A c.(565-567)gtG>gtA p.V189V TAOK3_ENST00000419821.2_Silent_p.V189V NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 189 Protein kinase. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TAGCTAAGATCACCTCTGGAG 0.363000 28 19 0 0 0.00209593 0 0 ITGA1 3672 broad.mit.edu 37 5 52216207 52216207 + Missense_Mutation SNP G G A rs140779034 TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:52216207G>A ENST00000282588.6 + 17 2659 c.2201G>A c.(2200-2202)cGa>cAa p.R734Q NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 734 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) CAAATATCACGAAGTTTTTTC 0.338000 15 15 0 0 0.00074312 0 0 TP53 7157 broad.mit.edu 37 17 7578290 7578290 + Splice_Site SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:7578290C>T ENST00000420246.2 - 6 692 c.e6-1 TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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) GGGGCCAGACCTAAGAGCAAT 0.552000 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) 39 3 0 0 0.00148497 0 0 LRFN5 145581 broad.mit.edu 37 14 42356711 42356711 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr14:42356711G>C ENST00000554171.1 + 5 3315 c.883G>C c.(883-885)Gag>Cag p.E295Q LRFN5_ENST00000298119.4_Missense_Mutation_p.E295Q|LRFN5_ENST00000554120.1_Missense_Mutation_p.E295Q Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 295 Ig-like. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TCATACACATGAGATGAGAGT 0.493000 HNSCC(30;0.082) 44 43 0 0 0.00195071 0 0 DNAJC13 23317 broad.mit.edu 37 3 132172488 132172488 + Nonsense_Mutation SNP G G T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:132172488G>T ENST00000260818.6 + 8 1038 c.790G>T c.(790-792)Gaa>Taa p.E264* DNAJC13_ENST00000486798.1_3'UTR NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 264 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 ATGTTTAGTAGAACGTGATCC 0.299000 41 50 2.43139e-17 5.88457e-17 0.00361006 1 0 ITGAM 3684 broad.mit.edu 37 16 31282368 31282368 + Nonsense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr16:31282368C>G ENST00000544665.3 + 6 592 c.521C>G c.(520-522)tCa>tGa p.S174* ITGAM_ENST00000287497.8_Nonsense_Mutation_p.S174* NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 174 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 GAGTTTGTCTCAACTGTGATG 0.517000 40 14 0 0 0.00128727 0 0 MYO18A 399687 broad.mit.edu 37 17 27424304 27424304 + Silent SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:27424304G>C ENST00000527372.1 - 27 4347 c.4167C>G c.(4165-4167)ctC>ctG p.L1389L MYO18A_ENST00000531253.1_Silent_p.L1389L|MYO18A_ENST00000354329.4_Silent_p.L1389L|MYO18A_ENST00000533112.1_Silent_p.L1389L NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 1389 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) ACTCCTGCTGGAGCCGTTTCT 0.632000 22 23 0 0 0.00152264 0 0 CNTN5 53942 broad.mit.edu 37 11 100141883 100141883 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:100141883G>A ENST00000524871.1 + 18 2514 c.2224G>A c.(2224-2226)Gtg>Atg p.V742M CNTN5_ENST00000418526.2_Missense_Mutation_p.V668M|CNTN5_ENST00000528682.1_Missense_Mutation_p.V742M|CNTN5_ENST00000527185.1_Missense_Mutation_p.V742M|CNTN5_ENST00000279463.3_Missense_Mutation_p.V742M|CNTN5_ENST00000524560.1_3'UTR NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 742 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AAATCCCTGGGTGGAATATGA 0.453000 4 34 0 0 0.000602214 0 0 BTBD11 121551 broad.mit.edu 37 12 108006637 108006637 + Silent SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:108006637G>C ENST00000280758.5 + 6 2418 c.1890G>C c.(1888-1890)ctG>ctC p.L630L BTBD11_ENST00000420571.2_Silent_p.L630L|BTBD11_ENST00000490090.2_Silent_p.L630L|BTBD11_ENST00000357167.4_Silent_p.L167L|RP11-128P10.1_ENST00000548473.1_RNA NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 630 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GAGCTGACCTGAATGTGGAGG 0.617000 14 7 0 0 0.00074312 0 0 BCL2L10 10017 broad.mit.edu 37 15 52404621 52404621 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr15:52404621C>T ENST00000260442.3 - 1 351 c.303G>A c.(301-303)gtG>gtA p.V101V BCL2L10_ENST00000561198.1_Silent_p.V101V NM_020396.2 NP_065129.1 Q9HD36 B2L10_HUMAN BCL2-like 10 (apoptosis facilitator) 91 activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all cancers(107;0.0148) CTGCGAAGGTCACGAGCGTCA 0.697000 4 15 0 0 0.00024832 0 0 SACS 26278 broad.mit.edu 37 13 23905211 23905211 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr13:23905211G>A ENST00000382298.3 - 10 13392 c.12804C>T c.(12802-12804)ttC>ttT p.F4268F SACS_ENST00000382292.3_Silent_p.F4268F|SACS_ENST00000402364.1_Silent_p.F3518F NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 4268 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) CAGGGGTGAGGAACTCAGTGG 0.463000 20 20 0 0 0.00152264 0 0 CCDC57 284001 broad.mit.edu 37 17 80059629 80059629 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:80059629G>A ENST00000389641.4 - 18 2716 c.2680C>T c.(2680-2682)Cgg>Tgg p.R894W CCDC57_ENST00000392347.1_Missense_Mutation_p.R894W Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 894 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) GGATGAGACCGGGAGGCTCCT 0.607000 5 75 0 0 0.000602214 0 0 SLA2 84174 broad.mit.edu 37 20 35261991 35261991 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr20:35261991C>G ENST00000262866.4 - 4 655 c.233G>C c.(232-234)aGa>aCa p.R78T SLA2_ENST00000360672.2_Missense_Mutation_p.R78T NM_032214.3|NM_175077.2 NP_115590.1|NP_778252.1 Q9H6Q3 SLAP2_HUMAN Src-like-adaptor 2 78 SH3. antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane protein N-terminus binding|SH3/SH2 adaptor activity endometrium(1)|lung(2)|skin(2) 5 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GTTATACTCTCTGCCTGAGAC 0.592000 67 47 0 0 0.00361006 0 0 PIGC 5279 broad.mit.edu 37 1 172411753 172411753 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:172411753G>C ENST00000367728.1 - 1 1473 c.10C>G c.(10-12)Caa>Gaa p.Q4E PIGC_ENST00000258324.1_Missense_Mutation_p.Q4E|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.Q4E|PIGC_ENST00000484368.1_Intron Q92535 PIGC_HUMAN phosphatidylinositol glycan anchor biosynthesis, class C 4 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 GTCACAGGTTGAGCATACATT 0.458000 33 22 0 0 0.00283554 0 0 CCDC141 285025 broad.mit.edu 37 2 179730512 179730512 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr2:179730512C>G ENST00000420890.2 - 17 2823 c.2706G>C c.(2704-2706)atG>atC p.M902I CCDC141_ENST00000295723.5_Missense_Mutation_p.M327I NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 327 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TCTCGTCTCTCATGGCGCAGT 0.522000 93 15 0 0 0.00361006 0 0 FAT3 120114 broad.mit.edu 37 11 92534424 92534424 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:92534424G>A ENST00000298047.6 + 9 8262 c.8245G>A c.(8245-8247)Gaa>Aaa p.E2749K FAT3_ENST00000525166.1_Missense_Mutation_p.E2599K|FAT3_ENST00000409404.2_Missense_Mutation_p.E2749K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2749 Cadherin 25. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGAACGGCCAGAAAATAACAA 0.468000 TCGA Ovarian(4;0.039) 6 14 0 0 0.00116845 0 0 S1PR4 8698 broad.mit.edu 37 19 3179294 3179294 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:3179294C>T ENST00000246115.3 + 1 559 c.504C>T c.(502-504)ctC>ctT p.L168L S1PR4_ENST00000591346.1_3'UTR NM_003775.3 NP_003766.1 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 168 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 TCATCGGCCTCTGCTGGCTGC 0.677000 68 9 0 0 0.00361006 0 0 KDM3B 51780 broad.mit.edu 37 5 137763680 137763680 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:137763680G>A ENST00000314358.5 + 20 4858 c.4658G>A c.(4657-4659)aGa>aAa p.R1553K KDM3B_ENST00000394866.1_Missense_Mutation_p.R1209K|KDM3B_ENST00000542866.1_Missense_Mutation_p.R585K NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1553 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GAAGATAGAAGAGTTGGTACA 0.423000 62 87 0 0 0.00361006 0 0 MFSD2A 84879 broad.mit.edu 37 1 40431188 40431188 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:40431188G>A ENST00000372809.5 + 5 705 c.562G>A c.(562-564)Gag>Aag p.E188K MFSD2A_ENST00000372811.5_Missense_Mutation_p.E175K|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Missense_Mutation_p.E19K NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 188 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CATCAGCACCGAGCAGACTGA 0.592000 53 39 0 0 0.00361006 0 0 LAMC3 10319 broad.mit.edu 37 9 133951317 133951317 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:133951317G>C ENST00000361069.4 + 21 3727 c.3594G>C c.(3592-3594)agG>agC p.R1198S LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1198 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TGGAGGGAAGGGTGGCCCTAG 0.642000 6 7 0 0 0.00116845 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2017164 2017164 + Nonsense_Mutation SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:2017164C>A ENST00000382722.5 - 5 888 c.526G>T c.(526-528)Gag>Tag p.E176* CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.E176*|CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.E176*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.E176*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.E112*|CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.E112* NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 176 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TTGCCCTTCTCGTCCCTCTCG 0.627000 37 19 3.43241e-23 8.38444e-23 0.00222228 1 0 PCDHB4 56131 broad.mit.edu 37 5 140502999 140502999 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:140502999C>G ENST00000194152.1 + 1 1419 c.1419C>G c.(1417-1419)agC>agG p.S473R NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 473 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGTGTCAGCGCCACAGACA 0.657000 88 129 0 0 0.00361006 0 0 UCHL5 51377 broad.mit.edu 37 1 192992088 192992088 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:192992088C>T ENST00000367455.4 - 9 1049 c.814G>A c.(814-816)Gaa>Aaa p.E272K UCHL5_ENST00000367451.4_Missense_Mutation_p.E298K|UCHL5_ENST00000367448.1_Missense_Mutation_p.E271K|UCHL5_ENST00000367454.1_Missense_Mutation_p.E271K|UCHL5_ENST00000367452.4_Missense_Mutation_p.E147K|UCHL5_ENST00000367449.1_Missense_Mutation_p.E271K|UCHL5_ENST00000530098.2_Missense_Mutation_p.E148K NM_001199261.1|NM_015984.3 NP_001186190.1|NP_057068.1 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1) 19 ACTTCTTCTTCAATAAGCATC 0.323000 29 29 0 0 0.00106085 0 0 TP53 7157 broad.mit.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:7578534C>G ENST00000420246.2 - 5 528 c.396G>C c.(394-396)aaG>aaC p.K132N TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 132 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; 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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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) GGCAAAACATCTTGTTGAGGG 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) 29 1 0 0 0.00178596 0 0 ANKZF1 55139 broad.mit.edu 37 2 220097343 220097343 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr2:220097343C>G ENST00000323348.5 + 5 670 c.496C>G c.(496-498)Ctt>Gtt p.L166V ANKZF1_ENST00000410034.3_Missense_Mutation_p.L166V|ANKZF1_ENST00000409849.1_5'UTR NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 166 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCATCGAGTTCTTTTCCAGAA 0.547000 29 6 0 0 0.00178596 0 0 HRNR 388697 broad.mit.edu 37 1 152187647 152187647 + Nonsense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:152187647G>C ENST00000368801.2 - 3 6533 c.6458C>G c.(6457-6459)tCa>tGa p.S2153* FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2153 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGACGAACCTGAGCTAGATCC 0.602000 203 2674 0 0 0.00361006 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142542441 142542441 + Silent SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:142542441C>A ENST00000295992.3 - 7 1188 c.882G>T c.(880-882)gtG>gtT p.V294V PCOLCE2_ENST00000485766.1_Intron NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 294 extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 GACACAAGGCCACGGTGGGTT 0.358000 17 30 8.00594e-06 1.84698e-05 0.000958276 1 0 BSN 8927 broad.mit.edu 37 3 49698132 49698132 + Nonsense_Mutation SNP G G T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:49698132G>T ENST00000296452.4 + 6 8968 c.8854G>T c.(8854-8856)Gag>Tag p.E2952* NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2952 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) GCGGCTGGTGGAGCATGAGTC 0.627000 12 21 2.80697e-09 6.59138e-09 0.000978159 1 0 CDH16 1014 broad.mit.edu 37 16 66947138 66947138 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr16:66947138G>A ENST00000299752.4 - 9 1143 c.950C>T c.(949-951)gCg>gTg p.A317V CDH16_ENST00000565796.1_Missense_Mutation_p.A317V|CDH16_ENST00000570262.1_Missense_Mutation_p.A237V|CDH16_ENST00000394055.3_Missense_Mutation_p.A317V|CDH16_ENST00000568632.1_Missense_Mutation_p.A220V NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 317 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A317V(1) endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CAGAGGGGCCGCATAGTCCTC 0.622000 4 70 0 0 0.000602214 0 0 VCAM1 7412 broad.mit.edu 37 1 101196923 101196923 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:101196923G>A ENST00000294728.2 + 6 1475 c.1374G>A c.(1372-1374)atG>atA p.M458I VCAM1_ENST00000370119.4_Missense_Mutation_p.M396I|VCAM1_ENST00000347652.2_Missense_Mutation_p.M366I|VCAM1_ENST00000370115.1_Intron NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 458 Ig-like C2-type 5. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ATACGGATATGAAATCTCTAG 0.413000 13 29 0 0 0.00185496 0 0 SOX5 6660 broad.mit.edu 37 12 23887679 23887679 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:23887679C>G ENST00000546136.1 - 5 712 c.710G>C c.(709-711)aGa>aCa p.R237T SOX5_ENST00000537393.1_Missense_Mutation_p.R215T|SOX5_ENST00000381381.2_Missense_Mutation_p.R237T|SOX5_ENST00000309359.1_Missense_Mutation_p.R237T|SOX5_ENST00000451604.2_Missense_Mutation_p.R250T|SOX5_ENST00000545921.1_Missense_Mutation_p.R240T|SOX5_ENST00000541536.1_Missense_Mutation_p.R237T P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 250 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 CTGCTGCTGTCTTGCAATCTG 0.353000 7 19 0 0 0.00307968 0 0 FBF1 85302 broad.mit.edu 37 17 73916369 73916369 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:73916369C>G ENST00000586717.1 - 17 2047 c.1774G>C c.(1774-1776)Gag>Cag p.E592Q FBF1_ENST00000319129.5_Missense_Mutation_p.E591Q|FBF1_ENST00000389570.4_Missense_Mutation_p.E592Q A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 591 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GCCTCCAGCTCTGCCAGCCGG 0.667000 9 14 0 0 0.000442599 0 0 TECPR1 25851 broad.mit.edu 37 7 97870221 97870221 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:97870221C>T ENST00000447648.2 - 8 1174 c.875G>A c.(874-876)gGg>gAg p.G292E TECPR1_ENST00000542604.1_Missense_Mutation_p.G222E|TECPR1_ENST00000379795.3_Missense_Mutation_p.G292E Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 292 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTGCATGACCCCGTTTTCAGA 0.622000 6 1 0 0 0.00198382 0 0 RGL2 5863 broad.mit.edu 37 6 33261808 33261808 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr6:33261808C>T ENST00000444031.2 - 11 1287 c.1143G>A c.(1141-1143)gtG>gtA p.V381V PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_Intron|RGL2_ENST00000497454.1_Intron O15211 RGL2_HUMAN ral guanine nucleotide dissociation stimulator-like 2 462 Ras-GEF. Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 34 ACACTCCGCTCACCTTCCTCC 0.527000 210 13 0 0 0.00361006 0 0 KDM4C 23081 broad.mit.edu 37 9 6984286 6984286 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:6984286C>T ENST00000381309.3 + 10 1801 c.1236C>T c.(1234-1236)gtC>gtT p.V412V KDM4C_ENST00000381306.3_Silent_p.V412V|KDM4C_ENST00000543771.1_Silent_p.V412V|KDM4C_ENST00000428870.2_Silent_p.V99V|KDM4C_ENST00000442236.2_Silent_p.V231V|KDM4C_ENST00000535193.1_Silent_p.V434V|KDM4C_ENST00000536108.1_Silent_p.V231V NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 412 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 ACCTCAAGGTCAGTGAAAAGT 0.498000 12 12 0 0 0.000978159 0 0 ZNF174 7727 broad.mit.edu 37 16 3452036 3452036 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr16:3452036C>G ENST00000268655.4 + 1 617 c.32C>G c.(31-33)tCc>tGc p.S11C ZNF174_ENST00000571936.1_Missense_Mutation_p.S11C|ZNF174_ENST00000572544.1_Missense_Mutation_p.S11C|ZNF174_ENST00000575752.1_Missense_Mutation_p.S11C|ZNF174_ENST00000344823.5_Missense_Mutation_p.S11C NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 11 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 ACTTTAAGCTCCAACACTGAA 0.478000 80 18 0 0 0.00361006 0 0 RBL1 5933 broad.mit.edu 37 20 35724307 35724307 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr20:35724307C>T ENST00000373664.3 - 1 91 c.25G>A c.(25-27)Gag>Aag p.E9K RBL1_ENST00000344359.3_Missense_Mutation_p.E9K|RBL1_ENST00000598590.1_Missense_Mutation_p.S40L NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 9 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) GCCGCCCCCTCAGCGTGGGGC 0.721000 5 18 0 0 0.00198382 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40665986 40665986 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:40665986C>T ENST00000343619.4 + 20 2361 c.2238C>T c.(2236-2238)ctC>ctT p.L746L ATP6V0A1_ENST00000537728.1_Silent_p.L697L|ATP6V0A1_ENST00000264649.6_Silent_p.L747L|ATP6V0A1_ENST00000585525.1_Silent_p.L703L|ATP6V0A1_ENST00000393829.2_Silent_p.L740L|ATP6V0A1_ENST00000544137.1_Silent_p.L392L|ATP6V0A1_ENST00000546249.1_Silent_p.L746L NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 746 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) CCCTCAGCCTCGCTCATGCGC 0.592000 81 76 0 0 0.00361006 0 0 CSMD2 114784 broad.mit.edu 37 1 34052107 34052107 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:34052107C>T ENST00000373381.4 - 46 7224 c.7048G>A c.(7048-7050)Gaa>Aaa p.E2350K NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2352 Sushi 13. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAATTACCTTCACATATCGGG 0.488000 5 13 0 0 0.000602214 0 0 BAIAP2L1 55971 broad.mit.edu 37 7 97949589 97949589 + Nonsense_Mutation SNP G G T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:97949589G>T ENST00000005260.8 - 4 451 c.236C>A c.(235-237)tCa>tAa p.S79* BAIAP2L1_ENST00000462558.1_5'UTR NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 79 IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) GTGGGTACTTGAAATCTCTAT 0.368000 11 6 2.80697e-09 6.59138e-09 0.000978159 1 0 PXDNL 137902 broad.mit.edu 37 8 52321569 52321569 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr8:52321569C>T ENST00000356297.4 - 17 2715 c.2615G>A c.(2614-2616)gGc>gAc p.G872D PXDNL_ENST00000543296.1_Missense_Mutation_p.G872D NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 872 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AGAGGGACGGCCGCTGGCACA 0.657000 22 49 0 0 0.00188189 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670664 131670664 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:131670664C>T ENST00000259324.5 + 3 1744 c.1221C>T c.(1219-1221)ctC>ctT p.L407L LRRC8A_ENST00000372600.4_Silent_p.L407L|LRRC8A_ENST00000372599.3_Silent_p.L407L NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 407 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 AGCTGAACCTCAACAACGAGT 0.587000 21 24 0 0 0.00121646 0 0 SPNS3 201305 broad.mit.edu 37 17 4356419 4356419 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:4356419C>G ENST00000355530.2 + 8 1312 c.1032C>G c.(1030-1032)atC>atG p.I344M SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.I217M NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 344 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 AGCCCCTCATCTGCGCCTCCA 0.612000 117 17 0 0 0.00361006 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95481376 95481376 + RNA SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr2:95481376C>T ENST00000432432.2 - 0 1984 NR_040113.1 TTTCTGTTTTCACACTTTCAC 0.358000 39 55 0 0 0.00111076 0 0 SSPO 23145 broad.mit.edu 37 7 149491884 149491884 + RNA SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:149491884G>C ENST00000378016.2 + 0 6085 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCCCACAGGAGAGAACCAGAC 0.602000 10 28 0 0 0.000673444 0 0 UVRAG 7405 broad.mit.edu 37 11 75672572 75672572 + Silent SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:75672572C>G ENST00000356136.3 + 7 919 c.678C>G c.(676-678)ctC>ctG p.L226L UVRAG_ENST00000528420.1_Silent_p.L125L|UVRAG_ENST00000533454.1_5'UTR NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 226 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 AACTAAGACTCACATCTACAA 0.323000 12 19 0 0 0.00185496 0 0 OR5F1 338674 broad.mit.edu 37 11 55761236 55761236 + Missense_Mutation SNP A A C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:55761236A>C ENST00000278409.1 - 1 865 c.866T>G c.(865-867)aTc>aGc p.I289S NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) GAGGCTGTAGATCAGAGGATT 0.423000 14 21 0 0 0.000566183 0 0 TAGLN2 8407 broad.mit.edu 37 1 159888643 159888643 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:159888643C>T ENST00000368097.4 - 5 857 c.547G>A c.(547-549)Ggg>Agg p.G183R TAGLN2_ENST00000368096.1_Missense_Mutation_p.G204R|TAGLN2_ENST00000320307.4_Missense_Mutation_p.G183R|TAGLN2_ENST00000478033.1_5'UTR NM_001277223.1|NM_003564.1 NP_001264152.1|NP_003555.1 P37802 TAGL2_HUMAN transgelin 2 183 muscle organ development nuclear membrane|plasma membrane protein binding endometrium(1)|large_intestine(2)|lung(6) 9 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.111) TGAGACGCCCCGCGGTTGGTG 0.577000 82 21 0 0 0.00361006 0 0 DAAM2 23500 broad.mit.edu 37 6 39828734 39828734 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr6:39828734G>A ENST00000538976.1 + 3 381 c.199G>A c.(199-201)Gag>Aag p.E67K DAAM2_ENST00000398904.2_Missense_Mutation_p.E67K|DAAM2_ENST00000274867.4_Missense_Mutation_p.E67K|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000405961.3_Missense_Mutation_p.E67K NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 67 GBD/FH3. 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) CAAAAACCGAGAGGCTATGTT 0.478000 6 16 0 0 0.00116845 0 0 SPTBN4 57731 broad.mit.edu 37 19 41019439 41019439 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:41019439G>A ENST00000352632.3 + 14 2829 c.2743G>A c.(2743-2745)Gac>Aac p.D915N SPTBN4_ENST00000598249.1_Missense_Mutation_p.D915N|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D915N|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D915N|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D915N Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 915 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTCACTCGACGACGTCGAGGT 0.617000 8 4 0 0 0.00307968 0 0 CASC5 57082 broad.mit.edu 37 15 40933206 40933206 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr15:40933206C>G ENST00000346991.5 + 15 6247 c.5857C>G c.(5857-5859)Cgt>Ggt p.R1953G CASC5_ENST00000399668.2_Missense_Mutation_p.R1927G Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 1953 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) TTGTGAGGCTCGTCGCCAAAA 0.373000 23 43 0 0 0.00127121 0 0 ZNF664 144348 broad.mit.edu 37 12 124497193 124497193 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:124497193G>C ENST00000539644.1 + 6 2332 c.502G>C c.(502-504)Gag>Cag p.E168Q ZNF664_ENST00000337815.4_Missense_Mutation_p.E168Q|ZNF664_ENST00000392404.3_Missense_Mutation_p.E168Q|ZNF664_ENST00000538932.2_Missense_Mutation_p.E168Q|FAM101A_ENST00000545615.1_Intron Q8N3J9 ZN664_HUMAN zinc finger protein 664 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) CCACACAGGAGAGAAACCCTA 0.512000 41 96 0 0 0.00170553 0 0 NR2F2 7026 broad.mit.edu 37 15 96880630 96880630 + Nonsense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr15:96880630C>T ENST00000394166.3 + 3 2413 c.1024C>T c.(1024-1026)Cag>Tag p.Q342* NR2F2_ENST00000421109.2_Nonsense_Mutation_p.Q209*|NR2F2_ENST00000453270.2_Nonsense_Mutation_p.Q189*|NR2F2_ENST00000394171.2_Nonsense_Mutation_p.Q189* NM_021005.3 NP_066285.1 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 342 Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) GGAAAAGTCTCAGTGTGCTTT 0.483000 43 39 0 0 0.00285205 0 0 NCF2 4688 broad.mit.edu 37 1 183536393 183536393 + Silent SNP G G T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:183536393G>T ENST00000413720.1 - 7 940 c.666C>A c.(664-666)gtC>gtA p.V222V NCF2_ENST00000367535.3_Silent_p.V267V|NCF2_ENST00000367536.1_Silent_p.V267V|NCF2_ENST00000418089.1_Silent_p.V186V NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 267 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 TCAAGACAAAGACAATGTTCC 0.552000 51 135 3.39706e-21 8.27246e-21 0.00361006 1 0 ARSD 414 broad.mit.edu 37 X 2835843 2835843 + Splice_Site SNP A A G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chrX:2835843A>G ENST00000381154.1 - 5 939 c.e5+1 ARSD_ENST00000217890.6_Splice_Site NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ATGGTTGCTTACCTTTCAATA 0.498000 10 8 0 0 0.000673444 0 0 VPS13C 54832 broad.mit.edu 37 15 62170822 62170822 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr15:62170822C>T ENST00000261517.5 - 74 10199 c.10126G>A c.(10126-10128)Gat>Aat p.D3376N VPS13C_ENST00000395898.3_Missense_Mutation_p.D3333N|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Missense_Mutation_p.D3376N|VPS13C_ENST00000249837.3_Missense_Mutation_p.D3333N NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3376 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ATAAGGTCATCCACATCAGTC 0.393000 15 14 0 0 0.000566183 0 0 TDRD7 23424 broad.mit.edu 37 9 100245328 100245328 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:100245328G>A ENST00000355295.4 + 15 2905 c.2610G>A c.(2608-2610)tcG>tcA p.S870S TDRD7_ENST00000422139.2_Silent_p.S796S|TDRD7_ENST00000540902.1_Silent_p.S190S NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 870 Interacts with CDK17 (By similarity). lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) TGCCCATGTCGGGCAACACTG 0.483000 12 16 0 0 0.000978159 0 0 ASTN2 23245 broad.mit.edu 37 9 120053704 120053704 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:120053704C>T ENST00000313400.4 - 2 631 c.531G>A c.(529-531)atG>atA p.M177I ASTN2_ENST00000373996.3_Missense_Mutation_p.M177I|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.M177I O75129 ASTN2_HUMAN astrotactin 2 177 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGAGCTGCTCATGGAGACGT 0.592000 30 45 0 0 0.00127121 0 0 CDSN 1041 broad.mit.edu 37 6 31084866 31084866 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr6:31084866G>C ENST00000376288.2 - 2 552 c.526C>G c.(526-528)Ctg>Gtg p.L176V PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR NM_001264.4 NP_001255 Q15517 CDSN_HUMAN corneodesmosin 176 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 TTGGTTGGCAGAGCAGAGCCA 0.547000 32 0 0 0 0.00209593 0 0 KMT2D 8085 broad.mit.edu 37 12 49448705 49448705 + Nonsense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:49448705G>A ENST00000301067.7 - 2 153 c.154C>T c.(154-156)Cag>Tag p.Q52* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGAGTCTCCTGAAGCCTGGGA 0.527000 54 42 0 0 0.00361006 0 0 TRMT2A 27037 broad.mit.edu 37 22 20102387 20102387 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr22:20102387C>T ENST00000252136.7 - 6 1406 c.1018G>A c.(1018-1020)Gag>Aag p.E340K TRMT2A_ENST00000403707.3_Missense_Mutation_p.E340K|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.E340K|TRMT2A_ENST00000439169.2_Missense_Mutation_p.E340K NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) 340 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 GCCAGCTCCTCAGGGCTCAGC 0.627000 6 9 0 0 0.00198382 0 0 NEK11 79858 broad.mit.edu 37 3 130887719 130887719 + Nonsense_Mutation SNP G G T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:130887719G>T ENST00000383366.4 + 13 1515 c.1222G>T c.(1222-1224)Gag>Tag p.E408* NEK11_ENST00000412440.2_Intron|NEK11_ENST00000507910.1_Nonsense_Mutation_p.E408*|NEK11_ENST00000356918.4_Nonsense_Mutation_p.E408*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.E408*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.E408*|NEK11_ENST00000510769.1_Nonsense_Mutation_p.E303*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.E408*|NEK11_ENST00000511262.1_Nonsense_Mutation_p.E408* NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 408 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 GGAGCAACCTGAGGGAAGACT 0.423000 14 26 3.27435e-08 7.66607e-08 0.00244969 1 0 VDAC2 7417 broad.mit.edu 37 10 76973799 76973799 + Translation_Start_Site SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr10:76973799G>A ENST00000535553.1 + 0 256 VDAC2_ENST00000332211.6_Missense_Mutation_p.D41N|VDAC2_ENST00000313132.4_Missense_Mutation_p.D56N|VDAC2_ENST00000543351.1_Missense_Mutation_p.D41N|VDAC2_ENST00000472137.1_3'UTR P45880 VDAC2_HUMAN voltage-dependent anion channel 2 mitochondrial nucleoid|mitochondrial outer membrane|pore complex nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 10 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) Dihydroxyaluminium(DB01375) GGTGAAACTGGATGTGAAAAC 0.328000 137 17 0 0 0.00361006 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120210 38120210 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr22:38120210C>T ENST00000406386.3 + 7 1902 c.1647C>T c.(1645-1647)ccC>ccT p.P549P NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 549 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAGACAACCCCACAACATCCT 0.602000 63 20 0 0 0.00361006 0 0 GINM1 116254 broad.mit.edu 37 6 149901764 149901764 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr6:149901764C>G ENST00000367419.5 + 6 743 c.622C>G c.(622-624)Ctt>Gtt p.L208V NM_138785.3 NP_620140.1 glycoprotein integral membrane 1 TAGCCAGTATCTTATCAGGAA 0.423000 36 9 0 0 0.00428921 0 0 RAB21 23011 broad.mit.edu 37 12 72163584 72163584 + Nonsense_Mutation SNP C C G rs79769755 TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:72163584C>G ENST00000261263.3 + 2 420 c.164C>G c.(163-165)tCa>tGa p.S55* NM_014999.2 NP_055814.1 Q9UL25 RAB21_HUMAN RAB21, member RAS oncogene family 55 protein transport|small GTPase mediated signal transduction cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane GDP binding|GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1) 6 TTTTAGGCATCATTCTTAACA 0.299000 7 19 0 0 0.00198382 0 0 C19orf73 55150 broad.mit.edu 37 19 49621933 49621933 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:49621933C>G ENST00000408991.2 - 1 464 c.347G>C c.(346-348)aGa>aCa p.R116T NM_018111.2 NP_060581.2 Q9NVV2 CS073_HUMAN chromosome 19 open reading frame 73 116 large_intestine(1)|lung(2) 3 CAGTCTGGGTCTGAGTGCTGG 0.622000 41 29 0 0 0.00170553 0 0 MAPK6 5597 broad.mit.edu 37 15 52338703 52338703 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr15:52338703C>T ENST00000261845.5 + 2 853 c.46C>T c.(46-48)Ctg>Ttg p.L16L NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 16 cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) TGGTTTTGATCTGGGTTCTAG 0.378000 26 57 0 0 0.00465635 0 0 NLRP1 22861 broad.mit.edu 37 17 5463250 5463250 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:5463250C>G ENST00000345221.3 - 4 1320 c.766G>C c.(766-768)Gag>Cag p.E256Q NLRP1_ENST00000269280.4_Missense_Mutation_p.E256Q|NLRP1_ENST00000577119.1_Missense_Mutation_p.E256Q|NLRP1_ENST00000572272.1_Missense_Mutation_p.E256Q|NLRP1_ENST00000262467.5_Missense_Mutation_p.E256Q|NLRP1_ENST00000354411.3_Missense_Mutation_p.E256Q|NLRP1_ENST00000571307.1_5'UTR NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 256 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) ACAGAAGGCTCCCATGGGTGG 0.552000 161 8 0 0 0.00361006 0 0 CXXC1 30827 broad.mit.edu 37 18 47811443 47811443 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr18:47811443C>G ENST00000285106.6 - 7 1555 c.841G>C c.(841-843)Gat>Cat p.D281H CXXC1_ENST00000589940.1_Missense_Mutation_p.D281H|CXXC1_ENST00000412036.2_Missense_Mutation_p.D281H NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 281 Asp/Glu-rich (acidic). histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 AGGTCCTCATCTGAGAGTGGC 0.567000 31 28 0 0 0.001512 0 0 AKNA 80709 broad.mit.edu 37 9 117119165 117119165 + Missense_Mutation SNP C C G rs150349533 byFrequency TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:117119165C>G ENST00000307564.4 - 13 2985 c.2824G>C c.(2824-2826)Gag>Cag p.E942Q AKNA_ENST00000223791.3_Missense_Mutation_p.E402Q|AKNA_ENST00000374088.3_Missense_Mutation_p.E942Q|AKNA_ENST00000374075.5_Missense_Mutation_p.E861Q NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 942 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 AGCCGGTGCTCTGGAGTCTGG 0.587000 28 58 0 0 0.001512 0 0 TAF4B 6875 broad.mit.edu 37 18 23873440 23873440 + Nonsense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr18:23873440C>T ENST00000269142.5 + 9 2775 c.1777C>T c.(1777-1779)Caa>Taa p.Q593* TAF4B_ENST00000578121.1_Nonsense_Mutation_p.Q598*|TAF4B_ENST00000400466.2_Nonsense_Mutation_p.Q593* NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa 593 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) TCTGTCACTTCAAGCATCTCC 0.284000 17 13 0 0 0.00121646 0 0 ZNF330 27309 broad.mit.edu 37 4 142151333 142151333 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr4:142151333C>G ENST00000262990.4 + 7 660 c.432C>G c.(430-432)ttC>ttG p.F144L ZNF330_ENST00000421169.2_Missense_Mutation_p.F84L NM_014487.4 NP_055302.1 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 144 chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(180;0.162) GCAGAATATTCAGTTGTTCTT 0.303000 13 47 0 0 0.00136819 0 0 AGAP3 116988 broad.mit.edu 37 7 150835370 150835370 + Missense_Mutation SNP A A G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:150835370A>G ENST00000397238.2 + 12 1636 c.1636A>G c.(1636-1638)Act>Gct p.T546A AGAP3_ENST00000463381.1_Intron NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 510 PH. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 TGAGGCCACCACTTCCCTGCC 0.697000 5 7 0 0 0.00116845 0 0 POGLUT1 56983 broad.mit.edu 37 3 119211213 119211213 + Missense_Mutation SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:119211213C>A ENST00000295588.4 + 11 1191 c.1107C>A c.(1105-1107)ttC>ttA p.F369L NM_152305.2 NP_689518.1 Q8NBL1 PGLT1_HUMAN protein O-glucosyltransferase 1 369 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 ACTCTAAATTCCTGTCTTATA 0.368000 25 31 4.47668e-21 1.0868e-20 0.00395357 1 0 SLITRK5 26050 broad.mit.edu 37 13 88327742 88327742 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr13:88327742C>T ENST00000325089.6 + 2 318 c.99C>T c.(97-99)ctC>ctT p.L33L SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 33 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TAACATCTCTCGTCCTTTCGT 0.453000 58 40 0 0 0.00361006 0 0 OSBP 5007 broad.mit.edu 37 11 59344284 59344284 + Nonsense_Mutation SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:59344284C>A ENST00000263847.1 - 13 2754 c.2275G>T c.(2275-2277)Gag>Tag p.E759* NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 759 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TTACCATCCTCTGTGGCTTTC 0.438000 49 55 6.17242e-35 1.52189e-34 0.00361006 1 0 BCAS1 8537 broad.mit.edu 37 20 52645461 52645461 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr20:52645461C>G ENST00000395961.3 - 4 359 c.193G>C c.(193-195)Gag>Cag p.E65Q BCAS1_ENST00000371440.3_Missense_Mutation_p.E65Q|BCAS1_ENST00000411563.1_5'UTR|BCAS1_ENST00000371435.2_Missense_Mutation_p.E65Q NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 65 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TCCGTTGTCTCGGGGGAAGAA 0.468000 46 6 0 0 0.00361006 0 0 ANXA13 312 broad.mit.edu 37 8 124701174 124701174 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr8:124701174C>G ENST00000262219.6 - 10 845 c.778G>C c.(778-780)Gac>Cac p.D260H ANXA13_ENST00000419625.1_Missense_Mutation_p.D219H NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 219 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) TCTTCTATGTCTTTGCCAATG 0.428000 31 98 0 0 0.00283554 0 0 MAN2B2 23324 broad.mit.edu 37 4 6588737 6588737 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr4:6588737C>T ENST00000285599.3 + 4 442 c.406C>T c.(406-408)Ctc>Ttc p.L136F MAN2B2_ENST00000504248.1_Missense_Mutation_p.L136F NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 136 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 ACACGGGTTTCTCTATGAAAC 0.627000 40 32 0 0 0.00222228 0 0 YIPF1 54432 broad.mit.edu 37 1 54348928 54348928 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:54348928G>A ENST00000072644.1 - 4 389 c.53C>T c.(52-54)tCt>tTt p.S18F YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.S43F|YIPF1_ENST00000469457.1_Intron NM_018982.4 NP_061855.1 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 18 integral to membrane|transport vesicle endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2) 19 TGCTGTCAGAGAAGTGGCTGC 0.453000 7 30 0 0 0.00198382 0 0 NEK11 79858 broad.mit.edu 37 3 130887755 130887755 + Nonsense_Mutation SNP G G T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:130887755G>T ENST00000383366.4 + 13 1551 c.1258G>T c.(1258-1260)Gaa>Taa p.E420* NEK11_ENST00000412440.2_Intron|NEK11_ENST00000507910.1_Nonsense_Mutation_p.E420*|NEK11_ENST00000356918.4_Nonsense_Mutation_p.E420*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.E420*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.E420*|NEK11_ENST00000510769.1_Nonsense_Mutation_p.E315*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.E420*|NEK11_ENST00000511262.1_Nonsense_Mutation_p.E420* NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 420 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 GGACGAGGATGAAGAGAGGTG 0.413000 11 27 1.61879e-10 3.82403e-10 0.00136819 1 0 MYO5C 55930 broad.mit.edu 37 15 52488553 52488553 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr15:52488553C>T ENST00000261839.7 - 39 5109 c.4948G>A c.(4948-4950)Gat>Aat p.D1650N RP11-430B1.2_ENST00000560518.1_lincRNA NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1650 Dilute. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TCCTTGGCATCACTGTCTGTG 0.522000 13 10 0 0 0.00185496 0 0 PTDSS1 9791 broad.mit.edu 37 8 97316381 97316381 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr8:97316381G>C ENST00000517309.1 + 7 1192 c.866G>C c.(865-867)gGa>gCa p.G289A PTDSS1_ENST00000522072.1_Missense_Mutation_p.G86A|PTDSS1_ENST00000455950.2_Missense_Mutation_p.G143A|PTDSS1_ENST00000518776.1_3'UTR NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 289 phosphatidylserine biosynthetic process integral to membrane transferase activity p.G289A(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) AGAGTAGCTGGAGTGTACCTT 0.413000 99 75 0 0 0.00361006 0 0 KLHL1 57626 broad.mit.edu 37 13 70549846 70549846 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr13:70549846C>T ENST00000377844.4 - 2 1345 c.586G>A c.(586-588)Gag>Aag p.E196K KLHL1_ENST00000545028.1_Intron NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 196 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.E196*(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) AAGGTTTGCTCAGCATGATGA 0.423000 34 47 0 0 0.00209593 0 0 ZNF646 9726 broad.mit.edu 37 16 31091412 31091412 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr16:31091412G>A ENST00000394979.2 + 1 4190 c.3767G>A c.(3766-3768)cGa>cAa p.R1256Q ZNF646_ENST00000300850.5_Missense_Mutation_p.R1256Q O15015 ZN646_HUMAN zinc finger protein 646 1256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 GCAGATCCCCGACGTTTCCGC 0.652000 28 9 0 0 0.00178596 0 0 ZNF568 374900 broad.mit.edu 37 19 37441869 37441869 + Missense_Mutation SNP T T C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:37441869T>C ENST00000415168.1 + 5 1998 c.1622T>C c.(1621-1623)aTg>aCg p.M541T ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.M605T NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 605 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) ATTATACATATGAGAAGTCAT 0.393000 12 36 0 0 0.00185496 0 0 DENND2A 27147 broad.mit.edu 37 7 140223167 140223167 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:140223167G>C ENST00000275884.6 - 16 3022 c.2605C>G c.(2605-2607)Ctg>Gtg p.L869V DENND2A_ENST00000537639.1_Missense_Mutation_p.L869V|DENND2A_ENST00000496613.1_Missense_Mutation_p.L869V Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 869 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) CTCTGTTCCAGAATGTGTTCC 0.602000 20 18 0 0 0.00121646 0 0 GLYCTK 132158 broad.mit.edu 37 3 52324464 52324464 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:52324464G>C ENST00000354773.4 + 2 202 c.106G>C c.(106-108)Gag>Cag p.E36Q GLYCTK_ENST00000436784.2_Missense_Mutation_p.E36Q|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000473032.1_Missense_Mutation_p.E36Q|GLYCTK_ENST00000305690.8_Missense_Mutation_p.E36Q|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000477382.1_Missense_Mutation_p.E36Q|GLYCTK_ENST00000471180.1_Intron NM_001144951.1 NP_001138423.1 Q8IVS8 GLCTK_HUMAN glycerate kinase 36 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) GGCCTTGGCAGAGCAGGCCAG 0.672000 26 26 0 0 0.000878237 0 0 KIAA0195 9772 broad.mit.edu 37 17 73482422 73482422 + Silent SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:73482422C>G ENST00000314256.7 + 5 718 c.324C>G c.(322-324)ctC>ctG p.L108L KIAA0195_ENST00000375248.5_Silent_p.L118L|KIAA0195_ENST00000579208.1_Intron NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 108 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TACTGCTTCTCAACCTTGTGC 0.627000 57 114 0 0 0.00361006 0 0 C11orf16 56673 broad.mit.edu 37 11 8947430 8947430 + Missense_Mutation SNP G G T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:8947430G>T ENST00000326053.5 - 5 890 c.784C>A c.(784-786)Cca>Aca p.P262T C11orf16_ENST00000525780.1_Missense_Mutation_p.P262T NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 262 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) CACAGGAATGGAGCATCCGGA 0.627000 41 56 2.19489e-29 5.39491e-29 0.00128727 1 0 CASC5 57082 broad.mit.edu 37 15 40933217 40933217 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr15:40933217G>C ENST00000346991.5 + 15 6258 c.5868G>C c.(5866-5868)aaG>aaC p.K1956N CASC5_ENST00000399668.2_Missense_Mutation_p.K1930N Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 1956 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) GTCGCCAAAAGATTGAAGAGT 0.373000 20 40 0 0 0.00465635 0 0 ZNF274 10782 broad.mit.edu 37 19 58723825 58723825 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:58723825G>A ENST00000326804.4 + 9 1734 c.1275G>A c.(1273-1275)gaG>gaA p.E425E ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.E393E|ZNF274_ENST00000424679.2_Silent_p.E320E NM_001278734.1|NM_133502.1 NP_001265663.1|NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 426 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) ACAACCCTGAGTCCCAGGCAA 0.463000 33 33 0 0 0.00375469 0 0 EGF 1950 broad.mit.edu 37 4 110925665 110925665 + Nonsense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr4:110925665C>T ENST00000265171.5 + 22 3623 c.3178C>T c.(3178-3180)Cag>Tag p.Q1060* EGF_ENST00000503392.1_Nonsense_Mutation_p.Q1019*|EGF_ENST00000509793.1_Nonsense_Mutation_p.Q1018* NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 1060 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TCACAGGACTCAGAAGCTGCT 0.453000 46 55 0 0 0.00361006 0 0 ITPR2 3709 broad.mit.edu 37 12 26781039 26781039 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:26781039C>G ENST00000381340.3 - 23 3407 c.2991G>C c.(2989-2991)aaG>aaC p.K997N ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 997 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CAAACTCCTTCTTATATATTG 0.358000 82 67 0 0 0.00361006 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151209106 151209106 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:151209106G>C ENST00000409426.1 + 8 1421 c.976G>C c.(976-978)Gag>Cag p.E326Q PIP5K1A_ENST00000414290.2_Missense_Mutation_p.E39Q|PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.E326Q|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.E325Q|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.E338Q Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 338 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) TGCACAACGAGAGCCCTTAAG 0.458000 9 40 0 0 0.00448238 0 0 SOX12 6666 broad.mit.edu 37 20 306653 306653 + Nonsense_Mutation SNP G G T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr20:306653G>T ENST00000342665.2 + 1 415 c.85G>T c.(85-87)Gag>Tag p.E29* SOX12_ENST00000544632.1_Nonsense_Mutation_p.E29*|RP5-1103G7.4_ENST00000442637.1_RNA NM_006943.2 NP_008874.2 O15370 SOX12_HUMAN SRY (sex determining region Y)-box 12 29 cell fate commitment|spinal cord development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) gggggcgcgcgagcccggcTG 0.746000 4 6 0.00024832 0.000571208 0.00024832 1 0 PIK3R1 5295 broad.mit.edu 37 5 67576355 67576355 + Splice_Site SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:67576355G>A ENST00000521381.1 + 6 1250 c.e6-1 PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TAAACTTGTAGAAGTACAAAG 0.343000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 35 79 0 0 0.00195071 0 0 INPP5E 56623 broad.mit.edu 37 9 139325493 139325493 + Silent SNP C C T rs150464071 TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:139325493C>T ENST00000371712.3 - 8 2028 c.1626G>A c.(1624-1626)acG>acA p.T542T NM_019892.4 NP_063945.2 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase, 72 kDa 542 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) TGCTGTCGTACGTGTCCTTCC 0.617000 13 18 0 0 0.00244969 0 0 PHF11 51131 broad.mit.edu 37 13 50102700 50102700 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr13:50102700G>C ENST00000357596.3 + 11 1054 c.778G>C c.(778-780)Gag>Cag p.E260Q PHF11_ENST00000378319.3_Missense_Mutation_p.E299Q|PHF11_ENST00000488958.1_Missense_Mutation_p.E260Q NM_001040444.1 NP_001035534.1 Q9UIL8 PHF11_HUMAN PHD finger protein 11 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding large_intestine(3)|lung(1) 4 Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.38e-09) GTTGAAGGAAGAGATTGAGCT 0.318000 44 3 0 0 0.00361006 0 0 POGLUT1 56983 broad.mit.edu 37 3 119211250 119211250 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:119211250C>G ENST00000295588.4 + 11 1228 c.1144C>G c.(1144-1146)Caa>Gaa p.Q382E NM_152305.2 NP_689518.1 Q8NBL1 PGLT1_HUMAN protein O-glucosyltransferase 1 382 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 AGGTTATGATCAAATTATTCC 0.388000 25 30 0 0 0.00395357 0 0 VTRNA2-1 100126299 broad.mit.edu 37 5 135416238 135416238 + RNA SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:135416238G>C ENST00000602301.1 - 0 48 NR_030583.2 GAGATGGACAGATAGAAAGTC 0.483000 17 20 0 0 0.000566183 0 0 EVC2 132884 broad.mit.edu 37 4 5624326 5624326 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr4:5624326G>A ENST00000310917.2 - 14 2930 c.2199C>T c.(2197-2199)gaC>gaT p.D733D EVC2_ENST00000344408.5_Silent_p.D813D|EVC2_ENST00000344938.1_Silent_p.D813D NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 813 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 CCTCAGGAGCGTCATCCTTCA 0.637000 5 21 0 0 0.000602214 0 0 WDR6 11180 broad.mit.edu 37 3 49051149 49051149 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:49051149G>A ENST00000395474.3 + 2 2552 c.2272G>A c.(2272-2274)Gat>Aat p.D758N WDR6_ENST00000448293.1_Missense_Mutation_p.D677N|WDR6_ENST00000608424.1_Missense_Mutation_p.D728N|WDR6_ENST00000415265.2_Missense_Mutation_p.D176N NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 728 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) CATGCAGCCTGATGACCTGGA 0.562000 OREG0015565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 25 0 0 0.00074312 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57867948 57867948 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:57867948C>T ENST00000393797.2 - 19 2257 c.2065G>A c.(2065-2067)Gat>Aat p.D689N ARHGAP9_ENST00000424809.2_Missense_Mutation_p.D599N|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.D599N|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.D415N|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.D678N|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.D618N Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 618 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CTGTCCAAATCTAACCGACCT 0.517000 10 23 0 0 0.000673444 0 0 OR1J2 26740 broad.mit.edu 37 9 125273430 125273430 + Nonsense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:125273430C>G ENST00000335302.5 + 1 350 c.350C>G c.(349-351)tCa>tGa p.S117* NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CTTATTACATCAATGGCATAT 0.403000 19 39 0 0 0.00074312 0 0 LRRC8A 56262 broad.mit.edu 37 9 131671306 131671306 + Silent SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:131671306C>T ENST00000259324.5 + 3 2386 c.1863C>T c.(1861-1863)ctC>ctT p.L621L LRRC8A_ENST00000372600.4_Silent_p.L621L|LRRC8A_ENST00000372599.3_Silent_p.L621L NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 621 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 AGATTGACCTCAAGGACAACA 0.562000 14 23 0 0 0.00185496 0 0 UPRT 139596 broad.mit.edu 37 X 74494354 74494354 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chrX:74494354G>A ENST00000373379.1 + 1 430 c.265G>A c.(265-267)Gac>Aac p.D89N UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373383.4_Missense_Mutation_p.D89N Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 89 nucleoside metabolic process cytoplasm|nucleus breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4) 18 TAGCAGCTATGACGCACCAGC 0.612000 8 1 0 0 0.00307968 0 0 GBP1 2633 broad.mit.edu 37 1 89522815 89522815 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:89522815G>C ENST00000370473.4 - 7 1096 c.877C>G c.(877-879)Cta>Gta p.L293V NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 293 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) AGGCTCTCTAGACCTGCATAT 0.473000 12 33 0 0 0.00185496 0 0 FAM189A2 9413 broad.mit.edu 37 9 71998867 71998867 + Missense_Mutation SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:71998867C>A ENST00000257515.8 + 8 1049 c.629C>A c.(628-630)tCt>tAt p.S210Y FAM189A2_ENST00000303068.7_Missense_Mutation_p.S45Y|FAM189A2_ENST00000455972.1_Missense_Mutation_p.S210Y NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 210 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 ATGCAGGGATCTTCATTCCAA 0.443000 12 12 2.68362e-12 6.41629e-12 0.00136819 1 0 HRNR 388697 broad.mit.edu 37 1 152188442 152188442 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:152188442C>T ENST00000368801.2 - 3 5738 c.5663G>A c.(5662-5664)gGa>gAa p.G1888E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1888 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGCCAGATCCATGCTGAGT 0.537000 211 1672 0 0 0.00361006 0 0 CEP350 9857 broad.mit.edu 37 1 179966254 179966254 + Nonsense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:179966254C>G ENST00000367607.3 + 6 1380 c.962C>G c.(961-963)tCa>tGa p.S321* NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 321 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 GTTGATAACTCAGTAACAGCA 0.428000 33 58 0 0 0.00178596 0 0 NOC2L 26155 broad.mit.edu 37 1 894355 894355 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:894355C>G ENST00000327044.6 - 2 182 c.133G>C c.(133-135)Gag>Cag p.E45Q NOC2L_ENST00000487214.1_5'UTR NM_015658.3 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 45 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CGGGCAGCCTCGCGTGCTTCC 0.642000 15 29 0 0 0.00244969 0 0 C6orf203 51250 broad.mit.edu 37 6 107365497 107365497 + Silent SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr6:107365497C>G ENST00000443043.1 + 4 1194 c.519C>G c.(517-519)ctC>ctG p.L173L C6orf203_ENST00000405204.2_Silent_p.L168L|C6orf203_ENST00000311381.5_Silent_p.L168L NM_001142470.1 NP_001135942.1 Q9P0P8 CF203_HUMAN chromosome 6 open reading frame 203 168 large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1) 8 Breast(9;0.00124)|all_epithelial(6;0.0729) all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23) BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244) BRCA - Breast invasive adenocarcinoma(108;0.117) AAGGTGAACTCAGGCTGAATG 0.393000 33 10 0 0 0.00428921 0 0 KLHL17 339451 broad.mit.edu 37 1 899321 899321 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:899321G>A ENST00000338591.3 + 9 1484 c.1377G>A c.(1375-1377)ctG>ctA p.L459L NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch-like family member 17 459 Interaction with F-actin (By similarity). actin cytoskeleton organization actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane protein complex scaffold central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACGACCCCCTGACCGGAACGT 0.697000 89 48 0 0 0.00361006 0 0 CYP51A1 1595 broad.mit.edu 37 7 91752451 91752451 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:91752451G>A ENST00000003100.8 - 7 1234 c.1069C>T c.(1069-1071)Cct>Tct p.P357S LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.P252S NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 351 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) TAAGTTAAAGGAGGCAGATTC 0.363000 16 29 0 0 0.00316338 0 0 TOP3A 7156 broad.mit.edu 37 17 18178247 18178247 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:18178247C>G ENST00000321105.5 - 19 3089 c.2875G>C c.(2875-2877)Gag>Cag p.E959Q TOP3A_ENST00000542570.1_Missense_Mutation_p.E864Q|TOP3A_ENST00000540524.1_Missense_Mutation_p.E489Q NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 959 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 GCTTCCGACTCCAGGGTTCTT 0.597000 27 38 0 0 0.000878237 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559508 140559508 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:140559508G>A ENST00000239444.2 + 1 2138 c.1893G>A c.(1891-1893)ctG>ctA p.L631L NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 631 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCAGGCTGCTGAGCGAGCGCG 0.692000 39 52 0 0 0.00361006 0 0 ANXA13 312 broad.mit.edu 37 8 124714888 124714888 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr8:124714888G>A ENST00000262219.6 - 4 370 c.303C>T c.(301-303)taC>taT p.Y101Y ANXA13_ENST00000419625.1_Silent_p.Y60Y NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 60 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding p.Y101*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) TCACCTTGCCGTACGTTGCCT 0.507000 43 87 0 0 0.00285205 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563415 140563415 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:140563415G>A ENST00000361016.2 + 1 2436 c.1281G>A c.(1279-1281)ggG>ggA p.G427G NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 427 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGATATGGGGACTCCAAGGC 0.473000 43 53 0 0 0.00148497 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34113464 34113464 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:34113464G>A ENST00000341394.4 + 15 1755 c.1566G>A c.(1564-1566)atG>atA p.M522I CAPRIN1_ENST00000532820.1_Missense_Mutation_p.M522I|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.M441I|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.M522I|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.M522I NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 522 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) TGTTCAATATGAATGCCCCAG 0.378000 21 21 0 0 0.00152264 0 0 ATP8B4 79895 broad.mit.edu 37 15 50189653 50189653 + Missense_Mutation SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr15:50189653C>A ENST00000284509.6 - 23 2674 c.2533G>T c.(2533-2535)Gac>Tac p.D845Y ATP8B4_ENST00000559829.1_Missense_Mutation_p.D845Y NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 845 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AATGAATAGTCGCTGGCTAAG 0.438000 4 98 0.000602214 0.00138124 0.000602214 1 0 TEX264 51368 broad.mit.edu 37 3 51733523 51733523 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr3:51733523G>A ENST00000415259.1 + 4 1663 c.582G>A c.(580-582)gaG>gaA p.E194E TEX264_ENST00000341333.5_Silent_p.E194E|TEX264_ENST00000416589.1_Silent_p.E194E|TEX264_ENST00000395057.1_Silent_p.E194E|TEX264_ENST00000457573.1_Silent_p.E194E|TEX264_ENST00000463857.1_3'UTR Q9Y6I9 TX264_HUMAN testis expressed 264 194 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) ATGTGCCTGAGATGAAGGAGA 0.577000 47 63 0 0 0.00361006 0 0 ME3 10873 broad.mit.edu 37 11 86209145 86209145 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr11:86209145C>T ENST00000543262.1 - 6 891 c.565G>A c.(565-567)Gag>Aag p.E189K ME3_ENST00000393324.3_Missense_Mutation_p.E189K|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000525957.1_5'UTR|ME3_ENST00000323418.6_Missense_Mutation_p.E127K|ME3_ENST00000359636.2_Missense_Mutation_p.E189K NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 189 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) AGGATGCGCTCCCCATCAGTC 0.627000 25 53 0 0 0.00127121 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475342 50475342 + RNA SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:50475342C>T ENST00000602139.1 + 0 1288 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 GCGTCTCTCTCAGCTTCTCCG 0.667000 8 30 0 0 0.000442599 0 0 PAPPA 5069 broad.mit.edu 37 9 119033631 119033631 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:119033631G>C ENST00000328252.3 + 9 3258 c.2889G>C c.(2887-2889)atG>atC p.M963I PAPPA_ENST00000534838.1_Start_Codon_SNP_p.M1I NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 963 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GCGACGACATGAATAAGATCA 0.428000 31 49 0 0 0.00327116 0 0 AVPR1B 553 broad.mit.edu 37 1 206225233 206225233 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:206225233C>T ENST00000367126.4 + 1 1258 c.793C>T c.(793-795)Cgg>Tgg p.R265W NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 265 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity p.R265W(1) 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) GCTGCCATCTCGGGTCAGCAG 0.607000 18 40 0 0 0.000566183 0 0 C17orf102 400591 broad.mit.edu 37 17 32906018 32906018 + Silent SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:32906018G>C ENST00000357754.1 - 1 370 c.282C>G c.(280-282)ctC>ctG p.L94L NM_207454.2 NP_997337.2 A2RUQ5 CQ102_HUMAN chromosome 17 open reading frame 102 94 central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1) 9 CGCGGCCCGAGAGGAGCTGGG 0.677000 56 82 0 0 0.00361006 0 0 SERPINB7 8710 broad.mit.edu 37 18 61471647 61471647 + Silent SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr18:61471647C>G ENST00000398019.2 + 8 1246 c.921C>G c.(919-921)ctC>ctG p.L307L SERPINB7_ENST00000336429.2_Silent_p.L307L|SERPINB7_ENST00000546027.1_Silent_p.L307L|SERPINB7_ENST00000540675.1_Silent_p.L290L NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 307 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) AAGCAGATCTCTCTGGGATTG 0.428000 18 14 0 0 0.00121646 0 0 SLC7A9 11136 broad.mit.edu 37 19 33355210 33355210 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr19:33355210G>A ENST00000023064.4 - 4 461 c.270C>T c.(268-270)atC>atT p.I90I SLC7A9_ENST00000590341.1_Silent_p.I90I|SLC7A9_ENST00000587772.1_Silent_p.I90I NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 90 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) CTGACTTGGTGATCATTGTGC 0.627000 7 17 0 0 0.00198382 0 0 TSPYL1 7259 broad.mit.edu 37 6 116600526 116600526 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr6:116600526C>G ENST00000368608.3 - 1 540 c.468G>C c.(466-468)aaG>aaC p.K156N DSE_ENST00000540275.1_Intron NM_003309.3 NP_003300.1 Q9H0U9 TSYL1_HUMAN TSPY-like 1 156 nucleosome assembly nucleolus breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094) ACTTTCCTGTCTTCACCTCCT 0.642000 39 11 0 0 0.00128727 0 0 ACAD10 80724 broad.mit.edu 37 12 112171868 112171868 + Silent SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:112171868G>C ENST00000455480.2 + 12 1806 c.1629G>C c.(1627-1629)ctG>ctC p.L543L ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.L512L|ACAD10_ENST00000392636.2_Silent_p.L114L|ACAD10_ENST00000313698.4_Silent_p.L512L NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 512 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 TTCCCGTGCTGAGAGGTAGGA 0.562000 13 24 0 0 0.00185496 0 0 SEC14L1 6397 broad.mit.edu 37 17 75205486 75205486 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr17:75205486G>C ENST00000413679.2 + 14 1842 c.1539G>C c.(1537-1539)gaG>gaC p.E513D SEC14L1_ENST00000585618.1_Missense_Mutation_p.E513D|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E513D|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E479D|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E513D|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E479D|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E513D|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E513D NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470|NP_001137471|NP_002994 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 513 transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 AGGAGCTGGAGAACGAAGACC 0.557000 17 13 0 0 0.00074312 0 0 ZFP36L1 677 broad.mit.edu 37 14 69262806 69262806 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr14:69262806C>T ENST00000408913.2 - 1 384 c.206G>A c.(205-207)gGa>gAa p.G69E Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 330 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) ACTGCCGCTTCCGACCGGGAG 0.751000 8 15 0 0 0.00307968 0 0 LRP1 4035 broad.mit.edu 37 12 57585154 57585154 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr12:57585154G>A ENST00000243077.3 + 44 7754 c.7288G>A c.(7288-7290)Gag>Aag p.E2430K NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2430 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CGTGTATGGGGAGCACATTTT 0.622000 13 11 0 0 0.00185496 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135103335 135103335 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr10:135103335G>A ENST00000368563.2 - 9 1709 c.1353C>T c.(1351-1353)ctC>ctT p.L451L TUBGCP2_ENST00000417178.2_Silent_p.L321L|TUBGCP2_ENST00000543663.1_Silent_p.L479L|TUBGCP2_ENST00000252936.3_Silent_p.L451L|TUBGCP2_ENST00000368562.1_Silent_p.L44L NM_001256617.1|NM_006659.3 NP_001243546.1|NP_006650.1 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 451 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CACCTGTGCTGAGGATCTTGT 0.642000 7 2 0 0 0.000978159 0 0 ERO1L 30001 broad.mit.edu 37 14 53119019 53119019 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr14:53119019G>A ENST00000395686.3 - 13 1286 c.1063C>T c.(1063-1065)Cct>Tct p.P355S NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) 355 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) AAATGCAAAGGAAATGACCTG 0.279000 31 26 0 0 0.0024448 0 0 MICAL3 57553 broad.mit.edu 37 22 18385442 18385442 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr22:18385442C>T ENST00000441493.2 - 4 896 c.544G>A c.(544-546)Gaa>Aaa p.E182K MICAL3_ENST00000585038.1_Missense_Mutation_p.E182K|MICAL3_ENST00000400561.2_Missense_Mutation_p.E182K|MICAL3_ENST00000444520.1_Missense_Mutation_p.E182K|MICAL3_ENST00000207726.7_Missense_Mutation_p.E182K|MICAL3_ENST00000414725.2_Missense_Mutation_p.E182K|MICAL3_ENST00000429452.1_Missense_Mutation_p.E182K|MICAL3_ENST00000383094.3_Missense_Mutation_p.E182K NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 182 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) CCTTGGAATTCCACATTGACG 0.458000 3 9 0 0 6.4e-05 0 0 VCP 7415 broad.mit.edu 37 9 35061056 35061056 + Missense_Mutation SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:35061056C>A ENST00000358901.6 - 11 2210 c.1315G>T c.(1315-1317)Gcc>Tcc p.A439S NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 439 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ATGACCTCGGCATCAATGGTC 0.537000 78 115 5.88917e-42 1.46118e-41 0.00361006 1 0 VCAM1 7412 broad.mit.edu 37 1 101200190 101200190 + Missense_Mutation SNP G G C TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:101200190G>C ENST00000294728.2 + 8 2026 c.1925G>C c.(1924-1926)gGa>gCa p.G642A VCAM1_ENST00000370119.4_Missense_Mutation_p.G580A|VCAM1_ENST00000347652.2_Missense_Mutation_p.G550A|VCAM1_ENST00000370115.1_Missense_Mutation_p.G443A NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 642 Ig-like C2-type 7. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GCGGAGACAGGAGACACAGTA 0.423000 6 22 0 0 0.00116845 0 0 ATMIN 23300 broad.mit.edu 37 16 81076045 81076045 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr16:81076045C>G ENST00000566488.1 + 2 1117 c.154C>G c.(154-156)Cac>Gac p.H52D ATMIN_ENST00000564241.1_Missense_Mutation_p.H52D|ATMIN_ENST00000299575.4_Missense_Mutation_p.H208D|ATMIN_ENST00000539819.1_Intron O43313 ATMIN_HUMAN ATM interactor 208 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 ACTGCAGTCTCACATCTACCG 0.512000 18 1 0 0 0.000566183 0 0 ITGA10 8515 broad.mit.edu 37 1 145539074 145539074 + Missense_Mutation SNP C C A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:145539074C>A ENST00000369304.3 + 25 3189 c.3014C>A c.(3013-3015)tCt>tAt p.S1005Y ITGA10_ENST00000538811.1_Missense_Mutation_p.S874Y|ITGA10_ENST00000539363.1_Missense_Mutation_p.S862Y NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 1005 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTATCACTGTCTCAAGTCATC 0.537000 10 50 1.58986e-06 3.68942e-06 0.000673444 1 0 PLEKHG5 57449 broad.mit.edu 37 1 6529426 6529426 + Missense_Mutation SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr1:6529426C>G ENST00000377748.1 - 19 2746 c.2249G>C c.(2248-2250)cGt>cCt p.R750P PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R742P|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R673P|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R729P|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R673P|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R673P|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R673P|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R673P|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R673P|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R752P|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.R750P|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R710P NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 729 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CACCCAGCCACGGCACAAGGC 0.567000 42 128 0 0 0.00361006 0 0 LCN15 389812 broad.mit.edu 37 9 139658199 139658199 + Silent SNP C C G TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr9:139658199C>G ENST00000316144.5 - 3 297 c.273G>C c.(271-273)ctG>ctC p.L91L LCN15_ENST00000482511.1_5'UTR NM_203347.1 NP_976222.1 Q6UWW0 LCN15_HUMAN lipocalin 15 91 lipid metabolic process extracellular region binding|transporter activity endometrium(1)|lung(1) 2 AGCCCACCTTCAGGTACTCGG 0.672000 34 30 0 0 0.00283554 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44807139 44807139 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:44807139G>A ENST00000309315.4 + 19 2803 c.2680G>A c.(2680-2682)Gat>Aat p.D894N ZMIZ2_ENST00000413916.1_Missense_Mutation_p.D836N|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.D894N|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.D862N|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.D868N NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 894 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GACCAACCCTGATGAGCTACT 0.522000 27 15 0 0 0.00178596 0 0 DNAH8 1769 broad.mit.edu 37 6 38835879 38835879 + Silent SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr6:38835879G>A ENST00000359357.3 + 46 6338 c.6084G>A c.(6082-6084)ttG>ttA p.L2028L DNAH8_ENST00000449981.2_Silent_p.L2245L|DNAH8_ENST00000441566.1_Silent_p.L1992L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGTCTGTATTGAGGACTCTTG 0.368000 14 64 0 0 0.00316338 0 0 PAPSS1 9061 broad.mit.edu 37 4 108603247 108603247 + Frame_Shift_Del DEL G G - TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr4:108603247delG ENST00000265174.4 - 5 865 c.593delC c.(592-594)cctfs p.P198fs PAPSS1_ENST00000511304.1_5'UTR NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 198 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) CACCAACTCAGGGGCCTCTGG 0.398 23 33 --- --- --- --- CDKL3 51265 broad.mit.edu 37 5 133695761 133695761 + Frame_Shift_Del DEL C C - TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr5:133695761delC ENST00000521118.1 - 3 301 c.187delG c.(187-189)gtcfs p.V63fs CDKL3_ENST00000435211.1_Frame_Shift_Del_p.V63fs|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000522501.1_Intron|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000265334.4_Frame_Shift_Del_p.V63fs|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000536186.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000523832.1_Frame_Shift_Del_p.V63fs|CDKL3_ENST00000435240.2_Intron Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 63 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATCAGATTGACCAGGTTTTCG 0.274 2 4 --- --- --- --- BPGM 669 broad.mit.edu 37 7 134346669 134346671 + In_Frame_Del DEL ACA ACA - TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr7:134346669_134346671delACA ENST00000393132.2 + 3 899_901 c.410_412delACA c.(409-414)tacaac>tac p.N138del BPGM_ENST00000344924.3_In_Frame_Del_p.N138del|BPGM_ENST00000418040.1_In_Frame_Del_p.N138del NM_199186.2 NP_954655.1 P07738 PMGE_HUMAN 2,3-bisphosphoglycerate mutase 138 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity breast(1)|endometrium(1)|lung(2)|stomach(1) 5 CAAGAAATCTACAACGACCGGAG 0.473 9 19 --- --- --- --- SPOCK2 9806 broad.mit.edu 37 10 73831966 73831967 + Frame_Shift_Del DEL TG TG - TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr10:73831966_73831967delTG ENST00000373109.2 - 4 738_739 c.294_295delCA c.(292-297)cacaagfs p.HK98fs SPOCK2_ENST00000536168.1_Frame_Shift_Del_p.HK98fs|SPOCK2_ENST00000317376.4_Frame_Shift_Del_p.HK98fs NM_001244950.1 NP_001231879.1 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 98 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 ATGCACACCTTGTGGCGGCTGC 0.634 2 4 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gaggcg>gcg p.E38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del NM_001284230.1 NP_001271159.1 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 4 7 --- --- --- --- C16orf71 146562 broad.mit.edu 37 16 4796953 4796955 + In_Frame_Del DEL GAG GAG - TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90c32ed7-8501-4559-b746-0e58f73fc66e e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa g.chr16:4796953_4796955delGAG ENST00000299320.5 + 8 1685_1687 c.1207_1209delGAG c.(1207-1209)gagdel p.E409del RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 409 p.E403delE(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 CTCTGACAGTGAGGAGGAGGAGG 0.611 2 4 --- --- --- ---