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 FASTKD5 60493 broad.mit.edu 37 20 3128108 3128108 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr20:3128108G>A ENST00000380266.3 - 2 1930 c.1609C>T c.(1609-1611)Ctt>Ttt p.L537F UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 537 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 TCTTGCTGAAGGTGAGTACTA 0.423000 19 26 0 0 0.007413 0 0 MBD6 114785 broad.mit.edu 37 12 57919940 57919940 + Nonsense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:57919940C>T ENST00000355673.3 + 6 1545 c.1189C>T c.(1189-1191)Caa>Taa p.Q397* MBD6_ENST00000431731.2_Nonsense_Mutation_p.Q397* NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 397 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 TCCTGTCCCCCAACCCTTTTC 0.622000 23 41 0 0 0.002780 0 0 CASR 846 broad.mit.edu 37 3 122003488 122003488 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:122003488G>A ENST00000498619.1 + 7 3155 c.2717G>A c.(2716-2718)cGc>cAc p.R906H CASR_ENST00000490131.1_Missense_Mutation_p.R896H|CASR_ENST00000296154.5_Missense_Mutation_p.R896H NM_001178065.1 NP_001171536 P41180 CASR_HUMAN calcium-sensing receptor 896 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) AACGTCTCCCGCAAGCGGTCC 0.657000 12 23 0 0 0.001855 0 0 TCP1 6950 broad.mit.edu 37 6 160205095 160205095 + Missense_Mutation SNP C C A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:160205095C>A ENST00000321394.7 - 7 955 c.675G>T c.(673-675)atG>atT p.M225I TCP1_ENST00000544255.1_Start_Codon_SNP_p.M1I|TCP1_ENST00000392168.2_Missense_Mutation_p.M70I|TCP1_ENST00000420894.2_Missense_Mutation_p.M225I NM_030752.2 NP_110379.2 P17987 TCPA_HUMAN t-complex 1 225 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(2) 10 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TTCTCTTGGGCATGCCTACAA 0.348000 13 19 2.27111e-07 2.46358e-07 0.013537 1 0 TGFBI 7045 broad.mit.edu 37 5 135385267 135385267 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:135385267G>A ENST00000442011.2 + 7 1072 c.911G>A c.(910-912)aGa>aAa p.R304K TGFBI_ENST00000305126.8_Missense_Mutation_p.R304K NM_000358.2 NP_000349.1 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 304 FAS1 2. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAAGCCCTGAGAGGTGAGCAT 0.557000 5 7 0 0 0.000602 0 0 PRKDC 5591 broad.mit.edu 37 8 48740849 48740849 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr8:48740849C>T ENST00000314191.2 - 63 8510 c.8454G>A c.(8452-8454)gaG>gaA p.E2818E PRKDC_ENST00000338368.3_Silent_p.E2818E|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2819 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATTTATCCATCTCTTTCAAAA 0.338000 Non-homologous end-joining 10 20 0 0 0.006214 0 0 SERPINC1 462 broad.mit.edu 37 1 173884047 173884047 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:173884047G>C ENST00000367698.3 - 2 170 c.52C>G c.(52-54)Ctt>Gtt p.L18V SERPINC1_ENST00000494024.1_5'UTR NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 18 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) AAGGACAAAAGATAAACCTTC 0.557000 OREG0013990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 38 0 0 0.003163 0 0 INTS8 55656 broad.mit.edu 37 8 95888700 95888700 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr8:95888700G>C ENST00000523731.1 + 26 2987 c.2854G>C c.(2854-2856)Gat>Cat p.D952H INTS8_ENST00000447247.1_Missense_Mutation_p.D935H NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 952 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) AGGAGAAACAGATAAAAGACA 0.284000 6 14 0 0 0.001984 0 0 FAM217A 222826 broad.mit.edu 37 6 4069100 4069100 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:4069100C>T ENST00000274673.3 - 7 1760 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K FAM217A_ENST00000380188.2_5'UTR NM_173563.2 NP_775834.2 Q8IXS0 CF146_HUMAN family with sequence similarity 217, member A 453 TTCTGATTTTCGGGAAAAGTC 0.388000 32 66 0 0 0.010818 0 0 EML5 161436 broad.mit.edu 37 14 89130890 89130890 + Missense_Mutation SNP C C A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr14:89130890C>A ENST00000554922.1 - 23 3604 c.3356G>T c.(3355-3357)gGa>gTa p.G1119V EML5_ENST00000352093.5_Missense_Mutation_p.G1081V|EML5_ENST00000380664.5_Missense_Mutation_p.G1119V NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1119 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TTTGCATATTCCTACTCGTTT 0.308000 16 22 2.32078e-09 2.54623e-09 0.003163 1 0 MKI67 4288 broad.mit.edu 37 10 129908693 129908693 + Nonsense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:129908693G>A ENST00000368654.3 - 12 2740 c.2365C>T c.(2365-2367)Caa>Taa p.Q789* MKI67_ENST00000368653.3_Nonsense_Mutation_p.Q429* NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 789 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCAGTTCCTTGAAACTGTTTT 0.433000 19 57 0 0 0.007413 0 0 LRRC36 55282 broad.mit.edu 37 16 67405141 67405141 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr16:67405141G>C ENST00000329956.6 + 9 1509 c.1490G>C c.(1489-1491)aGc>aCc p.S497T LRRC36_ENST00000541146.1_Missense_Mutation_p.Q21H|LRRC36_ENST00000290940.7_Missense_Mutation_p.S229T|LRRC36_ENST00000435835.3_Missense_Mutation_p.S376T|LRRC36_ENST00000563189.1_Missense_Mutation_p.S376T NM_018296.5 NP_060766.5 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 497 endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) GCTACAGGCAGCGAGGCAAGT 0.483000 19 52 0 0 0.014323 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229089 8229089 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:8229089C>T ENST00000539824.1 + 12 1814 c.1440C>T c.(1438-1440)ctC>ctT p.L480L SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Silent_p.L556L Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 556 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CTGGCCTCCTCATGGCCCTGG 0.697000 16 34 0 0 0.003163 0 0 POLR1A 25885 broad.mit.edu 37 2 86266558 86266558 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr2:86266558G>C ENST00000263857.6 - 26 4146 c.3768C>G c.(3766-3768)agC>agG p.S1256R POLR1A_ENST00000409681.1_Missense_Mutation_p.S1256R O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1256 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 TGATGTTGGCGCTGGCCACCA 0.522000 61 159 0 0 0.014410 0 0 CLOCK 9575 broad.mit.edu 37 4 56329885 56329885 + Nonsense_Mutation SNP C C A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:56329885C>A ENST00000309964.4 - 8 776 c.526G>T c.(526-528)Gaa>Taa p.E176* CLOCK_ENST00000513440.1_Nonsense_Mutation_p.E176*|CLOCK_ENST00000381322.1_Nonsense_Mutation_p.E176* NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 176 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) GAATCACTTTCCAGCAGATGA 0.318000 15 31 2.48551e-13 2.78261e-13 0.004990 1 0 KLHL23 151230 broad.mit.edu 37 2 170592674 170592674 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr2:170592674G>A ENST00000392647.2 + 2 1394 c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K KLHL23_ENST00000272797.4_Missense_Mutation_p.E384K|KLHL23_ENST00000602521.1_Intron NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 384 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 GGCTCCAGCAGAAGAGGCTGA 0.398000 32 105 0 0 0.009535 0 0 SPRY1 10252 broad.mit.edu 37 4 124322828 124322828 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:124322828G>C ENST00000394339.2 + 2 422 c.82G>C c.(82-84)Gac>Cac p.D28H SPRY1_ENST00000339241.1_Missense_Mutation_p.D28H NM_001258039.1|NM_005841.2 NP_001244968.1|NP_005832.1 O43609 SPY1_HUMAN sprouty homolog 1, antagonist of FGF signaling (Drosophila) 28 epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane p.D28N(1) NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 TCAGAGATTAGACTATGAGAG 0.468000 5 140 0 0 0.001168 0 0 MBD6 114785 broad.mit.edu 37 12 57918741 57918741 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:57918741C>T ENST00000355673.3 + 5 578 c.222C>T c.(220-222)ttC>ttT p.F74F MBD6_ENST00000431731.2_Silent_p.F74F NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 74 MBD. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 TACAGGTTTTCAACTTTGACC 0.567000 26 85 0 0 0.003954 0 0 SMARCA4 6597 broad.mit.edu 37 19 11096931 11096931 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:11096931C>T ENST00000358026.2 + 4 706 c.422C>T c.(421-423)tCg>tTg p.S141L SMARCA4_ENST00000589677.1_Missense_Mutation_p.S141L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S141L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S141L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S141L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S141L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S141L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S141L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S141L NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 141 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGCCCGTCTTCGGGGCCCCAG 0.662000 """F, N, Mis""" NSCLC 13 35 0 0 0.002450 0 0 KANK1 23189 broad.mit.edu 37 9 742241 742241 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr9:742241G>A ENST00000382303.1 + 14 4385 c.3733G>A c.(3733-3735)Gga>Aga p.G1245R KANK1_ENST00000382293.3_Missense_Mutation_p.G1087R|KANK1_ENST00000382297.2_Missense_Mutation_p.G1245R|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1245 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) GGTCAGTCACGGACGGATAGA 0.602000 4 62 0 0 0.000602 0 0 KCTD10 83892 broad.mit.edu 37 12 109895444 109895444 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:109895444G>A ENST00000228495.6 - 5 799 c.518C>T c.(517-519)tCa>tTa p.S173L KCTD10_ENST00000540411.1_Missense_Mutation_p.S170L|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_5'UTR|KCTD10_ENST00000424763.2_5'UTR NM_031954.3 NP_114160.1 Q9H3F6 BACD3_HUMAN potassium channel tetramerization domain containing 10 173 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 10 CCTGGTATATGAGTATTTGTT 0.468000 13 38 0 0 0.013537 0 0 USH2A 7399 broad.mit.edu 37 1 215972398 215972398 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:215972398C>T ENST00000366943.2 - 50 10195 c.9809G>A c.(9808-9810)aGa>aAa p.R3270K USH2A_ENST00000307340.3_Missense_Mutation_p.R3270K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3270 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.R3270K(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTACGGCATTCTGCCACAGCA 0.478000 HNSCC(13;0.011) 11 20 0 0 0.008291 0 0 KDM6A 7403 broad.mit.edu 37 X 44948995 44948995 + Missense_Mutation SNP T T A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chrX:44948995T>A ENST00000377967.4 + 25 3597 c.3556T>A c.(3556-3558)Ttg>Atg p.L1186M KDM6A_ENST00000536777.1_Missense_Mutation_p.L1141M|KDM6A_ENST00000543216.1_Missense_Mutation_p.L1107M|KDM6A_ENST00000382899.4_Missense_Mutation_p.L1193M NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1186 JmjC. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CAGAAATAATTTGAATTTCCT 0.328000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 9 7 0 0 0.006214 0 0 MED13 9969 broad.mit.edu 37 17 60062137 60062137 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:60062137C>G ENST00000397786.2 - 14 2642 c.2566G>C c.(2566-2568)Gaa>Caa p.E856Q NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 856 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTACCATATTCTTTATTATTC 0.358000 19 33 0 0 0.006122 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585273 70585273 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr8:70585273C>G ENST00000260126.4 - 10 3084 c.2378G>C c.(2377-2379)aGa>aCa p.R793T SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R738T NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TGGGCAAGATCTAGTCCGGGC 0.572000 15 41 0 0 0.002450 0 0 ZNF587 84914 broad.mit.edu 37 19 58370346 58370346 + Missense_Mutation SNP A A C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:58370346A>C ENST00000339656.5 + 3 748 c.566A>C c.(565-567)gAa>gCa p.E189A ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.E188A|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Silent_p.L14L|ZNF587_ENST00000419854.1_Missense_Mutation_p.E146A NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E189A(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(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;0.0264) TGCCAAGAAGAAGCTGCTGTA 0.478000 3 38 0 0 0.009096 0 0 RCBTB2 1102 broad.mit.edu 37 13 49076927 49076927 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr13:49076927G>A ENST00000544904.1 - 8 1013 c.835C>T c.(835-837)Ctc>Ttc p.L279F RCBTB2_ENST00000430805.2_Silent_p.F355F|RCBTB2_ENST00000344532.3_Silent_p.F350F|RCBTB2_ENST00000544492.1_Silent_p.F76F O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 0 Ran guanyl-nucleotide exchange factor activity breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) CAGTGCAGGAGAAGTGGGTGA 0.647000 14 64 0 0 0.002450 0 0 CORO2B 10391 broad.mit.edu 37 15 69006944 69006944 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr15:69006944C>T ENST00000543950.1 + 7 1151 c.797C>T c.(796-798)tCt>tTt p.S266F CORO2B_ENST00000540068.1_Missense_Mutation_p.S266F|CORO2B_ENST00000261861.5_Missense_Mutation_p.S266F|CORO2B_ENST00000566799.1_Missense_Mutation_p.S271F NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 271 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GATGGGCTCTCTGGCCTCCTG 0.602000 43 97 0 0 0.014410 0 0 ZFP69B 65243 broad.mit.edu 37 1 40928710 40928710 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:40928710C>G ENST00000411995.2 + 6 1429 c.1054C>G c.(1054-1056)Caa>Gaa p.Q352E ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.Q250E NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B ATCGCTTACTCAACATGTTAG 0.428000 13 28 0 0 0.013537 0 0 TMOD2 29767 broad.mit.edu 37 15 52058762 52058762 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr15:52058762G>C ENST00000249700.4 + 2 345 c.124G>C c.(124-126)Gag>Cag p.E42Q TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.E42Q NM_001142885.1|NM_014548.3 NP_001136357.1|NP_055363.1 Q9NZR1 TMOD2_HUMAN tropomodulin 2 (neuronal) 42 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 all cancers(107;0.00435) CCTAGATCCTGAGGTTAGTGA 0.408000 45 74 0 0 0.014410 0 0 BCO2 83875 broad.mit.edu 37 11 112086988 112086988 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:112086988C>T ENST00000357685.5 + 11 1696 c.1561C>T c.(1561-1563)Cca>Tca p.P521S BCO2_ENST00000393032.2_Missense_Mutation_p.P487S|BCO2_ENST00000531169.1_Missense_Mutation_p.P487S|BCO2_ENST00000438022.1_Missense_Mutation_p.P487S|BCO2_ENST00000361053.4_Missense_Mutation_p.P448S|BCO2_ENST00000526088.1_Missense_Mutation_p.P481S|BCO2_ENST00000532593.1_Missense_Mutation_p.P416S Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 521 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 TGTTTTTGTTCCAGCACCAGG 0.413000 15 20 0 0 0.004007 0 0 F8 2157 broad.mit.edu 37 X 154156856 154156856 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chrX:154156856G>C ENST00000360256.4 - 14 5409 c.5209C>G c.(5209-5211)Cta>Gta p.L1737V NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1737 F5/8 type A 3.|Plastocyanin-like 5. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CTGTTTCTTAGAACATGTGGG 0.428000 9 3 0 0 0.008291 0 0 PLCL2 23228 broad.mit.edu 37 3 17052496 17052496 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:17052496C>T ENST00000418129.2 + 2 1745 c.1280C>T c.(1279-1281)tCt>tTt p.S427F PLCL2_ENST00000432376.1_Missense_Mutation_p.S427F|PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000396755.2_Missense_Mutation_p.S427F NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 553 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GTTGAGGAATCTTATCTACCA 0.398000 11 19 0 0 0.001855 0 0 SAMM50 25813 broad.mit.edu 37 22 44377326 44377326 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr22:44377326C>T ENST00000350028.4 + 11 1149 c.992C>T c.(991-993)tCa>tTa p.S331L SAMM50_ENST00000396202.3_Missense_Mutation_p.S121L NM_015380.4 NP_056195.3 Q9Y512 SAM50_HUMAN SAMM50 sorting and assembly machinery component 331 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex protein binding endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GATAAGCCGTCAAGCATTGCT 0.358000 23 45 0 0 0.003330 0 0 OBSCN 84033 broad.mit.edu 37 1 228401894 228401894 + Silent SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:228401894C>G ENST00000570156.2 + 4 1352 c.1278C>G c.(1276-1278)ctC>ctG p.L426L OBSCN_ENST00000422127.1_Silent_p.L426L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L426L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 426 Ig-like 5. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCCGAAAGCTCCCTCGGAAGA 0.697000 28 74 0 0 0.012213 0 0 NBPF1 55672 broad.mit.edu 37 1 16918399 16918399 + Nonsense_Mutation SNP C C A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:16918399C>A ENST00000430580.2 - 7 1005 c.118G>T c.(118-120)Gag>Tag p.E40* NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 40 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AAACATTTCTCTTTGAGGTTT 0.458000 34 789 2.29192e-23 2.60383e-23 0.014410 1 0 UACA 55075 broad.mit.edu 37 15 70960310 70960310 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr15:70960310C>T ENST00000322954.6 - 16 2898 c.2713G>A c.(2713-2715)Gaa>Aaa p.E905K UACA_ENST00000560441.1_Missense_Mutation_p.E890K|UACA_ENST00000379983.2_Missense_Mutation_p.E892K|UACA_ENST00000539319.1_Missense_Mutation_p.E796K NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 905 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 TTTAATATTTCATTCTTATCT 0.338000 9 25 0 0 0.004482 0 0 RBM10 8241 broad.mit.edu 37 X 47041576 47041576 + Nonsense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chrX:47041576C>T ENST00000377604.3 + 17 2543 c.1801C>T c.(1801-1803)Cag>Tag p.Q601* RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q524*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q523* NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 601 Tyr-rich. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CTACAATGCTCAGAGCCAGCA 0.592000 12 9 0 0 0.013537 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869859 22869859 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr22:22869859C>T ENST00000302097.3 - 2 348 c.96G>A c.(94-96)ctG>ctA p.L32L NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 32 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) CAACATAGATCAGATCTGGAT 0.383000 41 84 0 0 0.007835 0 0 NDST3 9348 broad.mit.edu 37 4 118975893 118975893 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:118975893G>A ENST00000296499.5 + 2 1231 c.828G>A c.(826-828)ttG>ttA p.L276L NDST3_ENST00000433996.2_Silent_p.L276L NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 276 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 GCAACAACTTGAACTTTTGGC 0.423000 32 103 0 0 0.012213 0 0 DENND2C 163259 broad.mit.edu 37 1 115168413 115168413 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:115168413C>G ENST00000393274.1 - 4 818 c.193G>C c.(193-195)Gag>Cag p.E65Q DENND2C_ENST00000393277.1_Missense_Mutation_p.E65Q|DENND2C_ENST00000393276.3_Missense_Mutation_p.E65Q NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 65 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCTTTCTCTCAGCTATAGGA 0.368000 50 113 0 0 0.014410 0 0 EXO1 9156 broad.mit.edu 37 1 242042635 242042635 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:242042635C>T ENST00000366548.3 + 13 2692 c.2099C>T c.(2098-2100)tCt>tTt p.S700F EXO1_ENST00000348581.5_Missense_Mutation_p.S700F|EXO1_ENST00000518483.1_Missense_Mutation_p.S700F NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 700 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) AGTAAGGACTCTGATTCAGAG 0.378000 Editing and processing nucleases 8 25 0 0 0.003080 0 0 KIAA1033 23325 broad.mit.edu 37 12 105514927 105514927 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:105514927G>A ENST00000332180.5 + 9 697 c.610G>A c.(610-612)Gat>Aat p.D204N NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 204 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 GCTCACCCTGGATGAAATTAT 0.318000 12 28 0 0 0.010729 0 0 SERPINA6 866 broad.mit.edu 37 14 94780574 94780574 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr14:94780574C>T ENST00000341584.3 - 2 558 c.412G>A c.(412-414)Gag>Aag p.E138K NM_001756.3 NP_001747 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 138 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TCCAGCAACTCCAGGCTGCCA 0.498000 11 21 0 0 0.008291 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156632145 156632145 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:156632145G>A ENST00000296518.7 + 6 1037 c.828G>A c.(826-828)gtG>gtA p.V276V GUCY1A3_ENST00000506455.1_Silent_p.V276V|GUCY1A3_ENST00000393832.3_Silent_p.V18V|GUCY1A3_ENST00000455639.2_Silent_p.V276V|GUCY1A3_ENST00000511108.1_Silent_p.V276V|GUCY1A3_ENST00000513574.1_Silent_p.V276V|GUCY1A3_ENST00000511507.1_Silent_p.V276V Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 276 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) CCTCGCTGGTGATTCCCACAT 0.463000 23 51 0 0 0.002780 0 0 MMP10 4319 broad.mit.edu 37 11 102649448 102649448 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:102649448C>T ENST00000279441.4 - 4 565 c.529G>A c.(529-531)Gga>Aga p.G177R NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 177 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) AAACTGTGTCCTGGGCCATCA 0.403000 18 51 0 0 0.008871 0 0 ODF2 4957 broad.mit.edu 37 9 131219695 131219695 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr9:131219695C>T ENST00000434106.3 + 2 374 c.11C>T c.(10-12)tCa>tTa p.S4L ODF2_ENST00000372814.3_Intron|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000351030.3_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372791.3_Missense_Mutation_p.S4L|ODF2_ENST00000604420.1_Missense_Mutation_p.S4L|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000393527.3_5'UTR NM_153433.1 NP_702911.1 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity p.S4L(1) autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 ATGTCTGCCTCATCCTCAGGC 0.662000 34 41 0 0 0.006230 0 0 PLCE1 51196 broad.mit.edu 37 10 96006249 96006249 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:96006249G>A ENST00000371380.3 + 7 3202 c.2967G>A c.(2965-2967)gtG>gtA p.V989V PLCE1_ENST00000260766.3_Silent_p.V989V|PLCE1_ENST00000371375.1_Silent_p.V681V|PLCE1_ENST00000371385.3_Silent_p.V681V Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGCACTTCGTGGCACCAAAGC 0.468000 26 69 0 0 0.003954 0 0 MPEG1 219972 broad.mit.edu 37 11 58978635 58978635 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:58978635G>A ENST00000361050.3 - 1 1789 c.1704C>T c.(1702-1704)atC>atT p.I568I NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 568 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) ATCCATCGCTGATGAGGGCTG 0.607000 28 62 0 0 0.004656 0 0 ARID1B 57492 broad.mit.edu 37 6 157150475 157150475 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:157150475C>T ENST00000346085.5 + 2 1658 c.1657C>T c.(1657-1659)Cca>Tca p.P553S ARID1B_ENST00000275248.4_Missense_Mutation_p.P495S|ARID1B_ENST00000367148.1_Missense_Mutation_p.P553S|ARID1B_ENST00000350026.5_Missense_Mutation_p.P553S NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 553 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CTATGGCCCTCCAGGCCCACA 0.597000 12 19 0 0 0.013537 0 0 ZNF841 284371 broad.mit.edu 37 19 52568727 52568727 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:52568727C>G ENST00000389534.4 - 7 2867 c.2408G>C c.(2407-2409)aGa>aCa p.R803T ZNF841_ENST00000359973.2_Missense_Mutation_p.R379T|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.R803T|ZNF841_ENST00000426391.2_Missense_Mutation_p.R687T NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 687 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 TGAACGTACTCTAAAGGCTTT 0.403000 6 38 0 0 0.001168 0 0 AGPAT3 56894 broad.mit.edu 37 21 45390599 45390599 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr21:45390599G>A ENST00000398063.2 + 5 1068 c.576G>A c.(574-576)gcG>gcA p.A192A AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Silent_p.A192A|AGPAT3_ENST00000327505.2_Silent_p.A192A|AGPAT3_ENST00000398061.1_Silent_p.A192A|AGPAT3_ENST00000398058.1_Silent_p.A192A|AGPAT3_ENST00000291572.8_Silent_p.A192A NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 192 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TGGAGGTGGCGGCTGCTAAGG 0.622000 15 15 0 0 0.004007 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40630571 40630571 + Missense_Mutation SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:40630571G>T ENST00000343619.4 + 7 720 c.597G>T c.(595-597)caG>caT p.Q199H ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.Q199H|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.Q206H|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.Q156H|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.Q156H|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.Q199H NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 199 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) TCCTGCGACAGGCTGAAATCG 0.547000 8 48 7.48243e-07 8.09367e-07 0.006214 1 0 NKAPL 222698 broad.mit.edu 37 6 28227544 28227544 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:28227544G>C ENST00000343684.3 + 1 447 c.395G>C c.(394-396)gGa>gCa p.G132A NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 132 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GGGGAATTGGGAGCGCCTGAA 0.537000 38 86 0 0 0.004289 0 0 ZNF337 26152 broad.mit.edu 37 20 25656944 25656944 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr20:25656944C>T ENST00000376436.1 - 4 1519 c.980G>A c.(979-981)cGa>cAa p.R327Q ZNF337_ENST00000252979.5_Missense_Mutation_p.R327Q|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R295Q zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGTATAGCCTCGCCCACACTC 0.488000 25 80 0 0 0.003330 0 0 RFTN2 130132 broad.mit.edu 37 2 198495939 198495939 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr2:198495939C>T ENST00000295049.4 - 5 1260 c.724G>A c.(724-726)Gat>Aat p.D242N NM_144629.2 NP_653230.2 Q52LD8 RFTN2_HUMAN raftlin family member 2 plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3) 30 AATTTGTTATCTGAGGCTAGG 0.348000 18 39 0 0 0.007413 0 0 NUP155 9631 broad.mit.edu 37 5 37294509 37294509 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:37294509G>A ENST00000231498.3 - 33 4055 c.3852C>T c.(3850-3852)ttC>ttT p.F1284F NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Silent_p.F1225F|NUP155_ENST00000513532.1_Silent_p.F1220F NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1284 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCTGTATTACGAAGCCCACAT 0.333000 5 20 0 0 0.000602 0 0 ZNF841 284371 broad.mit.edu 37 19 52569455 52569455 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:52569455C>G ENST00000389534.4 - 7 2139 c.1680G>C c.(1678-1680)atG>atC p.M560I ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.M560I|ZNF841_ENST00000426391.2_Missense_Mutation_p.M444I NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 TATGACATCTCATATGAACCG 0.403000 23 35 0 0 0.012319 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75560414 75560414 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:75560414G>C ENST00000604729.1 + 24 5316 c.5019G>C c.(5017-5019)gaG>gaC p.E1673D RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.E1676D|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.E1494D|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.E1635D|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.E1681D zinc finger, SWIM-type containing 8 TGGCACTGGAGATGCTGGGTC 0.567000 14 41 0 0 0.002450 0 0 TAS2R4 50832 broad.mit.edu 37 7 141478837 141478837 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr7:141478837G>C ENST00000247881.2 + 1 596 c.549G>C c.(547-549)ttG>ttC p.L183F SSBP1_ENST00000465582.1_Intron NM_016944.1 NP_058640.1 Q9NYW5 TA2R4_HUMAN taste receptor, type 2, member 4 183 sensory perception of taste cilium membrane taste receptor activity endometrium(1)|large_intestine(4)|lung(2) 7 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) CTTTGGTCTTGAGCTCATCTC 0.403000 64 248 0 0 0.014410 0 0 HSPG2 3339 broad.mit.edu 37 1 22216603 22216603 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:22216603C>T ENST00000374695.3 - 6 524 c.445G>A c.(445-447)Gat>Aat p.D149N NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 149 SEA. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GAGCCCACATCCAGCTCCACA 0.607000 21 78 0 0 0.002780 0 0 TBCE 6905 broad.mit.edu 37 1 235611678 235611678 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:235611678C>G ENST00000543662.1 + 17 1673 c.1567C>G c.(1567-1569)Caa>Gaa p.Q523E TBCE_ENST00000406207.1_Missense_Mutation_p.Q472E|TBCE_ENST00000366601.3_Missense_Mutation_p.Q472E|TBCE_ENST00000472011.1_3'UTR Q15813 TBCE_HUMAN tubulin folding cofactor E 472 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) CATGACAATTCAAAAGGTGAA 0.408000 20 44 0 0 0.008871 0 0 MPEG1 219972 broad.mit.edu 37 11 58978681 58978681 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:58978681G>C ENST00000361050.3 - 1 1743 c.1658C>G c.(1657-1659)tCt>tGt p.S553C NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 553 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) CTTTTTCAGAGACGGTGCCCC 0.572000 24 57 0 0 0.004656 0 0 BTG1 694 broad.mit.edu 37 12 92539287 92539287 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:92539287C>T ENST00000256015.3 - 1 386 c.25G>A c.(25-27)Gcc>Acc p.A9T NM_001731.2 NP_001722.1 P62324 BTG1_HUMAN B-cell translocation gene 1, anti-proliferative 9 cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|transcription cofactor activity haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2) 16 Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09) ATCATGGTGGCGGCCCGGGTG 0.731000 T MYC BCLL 12 26 0 0 0.001855 0 0 JAK2 3717 broad.mit.edu 37 9 5126756 5126756 + Nonsense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr9:5126756C>T ENST00000381652.3 + 25 3858 c.3364C>T c.(3364-3366)Cga>Tga p.R1122* JAK2_ENST00000544510.1_Nonsense_Mutation_p.R973*|JAK2_ENST00000539801.1_Nonsense_Mutation_p.R1122*|JAK2_ENST00000487310.1_3'UTR NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 1122 Protein kinase 2. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TCTAGCTCTTCGAGTGGATCA 0.353000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 8 10 0 0 0.003080 0 0 KCNB1 3745 broad.mit.edu 37 20 47989977 47989977 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr20:47989977C>G ENST00000371741.4 - 2 2286 c.2120G>C c.(2119-2121)gGa>gCa p.G707A NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 707 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ACACTCCAGTCCAGCGACAGC 0.597000 4 46 0 0 0.009096 0 0 C10orf118 55088 broad.mit.edu 37 10 115894769 115894769 + Missense_Mutation SNP A A T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:115894769A>T ENST00000369287.3 - 10 1824 c.1558T>A c.(1558-1560)Tca>Aca p.S520T C10orf118_ENST00000543782.1_Missense_Mutation_p.S118T NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 520 NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) TTATATTTTGATAATTCATCT 0.323000 12 29 0 0 0.013537 0 0 MBD6 114785 broad.mit.edu 37 12 57919725 57919725 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:57919725C>G ENST00000355673.3 + 6 1330 c.974C>G c.(973-975)tCt>tGt p.S325C MBD6_ENST00000431731.2_Missense_Mutation_p.S325C NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 325 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 AGCCTACTCTCTGCAGCGGCC 0.687000 10 40 0 0 0.010729 0 0 GOLGB1 2804 broad.mit.edu 37 3 121414199 121414199 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:121414199G>A ENST00000393667.3 - 13 5281 c.5171C>T c.(5170-5172)tCt>tTt p.S1724F GOLGB1_ENST00000340645.5_Missense_Mutation_p.S1719F NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1719 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GGCATTGGAAGAAAGAAGTGT 0.433000 39 90 0 0 0.004878 0 0 SYNJ2 8871 broad.mit.edu 37 6 158487635 158487635 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:158487635C>T ENST00000355585.4 + 12 1760 c.1685C>T c.(1684-1686)tCg>tTg p.S562L SYNJ2_ENST00000367122.2_Missense_Mutation_p.S562L|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S562L|SYNJ2_ENST00000449859.2_Missense_Mutation_p.S490L NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 562 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CTGCTCGACTCGCCCCAGCTC 0.597000 19 26 0 0 0.007413 0 0 MTIF3 219402 broad.mit.edu 37 13 28014539 28014539 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr13:28014539G>A ENST00000381116.1 - 5 281 c.47C>T c.(46-48)tCt>tTt p.S16F MTIF3_ENST00000431572.2_Missense_Mutation_p.S16F|MTIF3_ENST00000405591.2_Missense_Mutation_p.S16F|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Missense_Mutation_p.S16F Q9H2K0 IF3M_HUMAN mitochondrial translational initiation factor 3 16 regulation of translational initiation|ribosome disassembly mitochondrion ribosomal small subunit binding|translation initiation factor activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157) ACTATTTTCAGACTTTACAGT 0.388000 6 35 0 0 0.001168 0 0 RHD 6007 broad.mit.edu 37 1 25599098 25599098 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:25599098G>A ENST00000328664.4 + 1 215 c.60G>A c.(58-60)ctG>ctA p.L20L RHD_ENST00000568195.1_Silent_p.L20L|RHD_ENST00000342055.5_Silent_p.L20L|RHD_ENST00000423810.2_Silent_p.L20L|RHD_ENST00000357542.4_Silent_p.L20L|RHD_ENST00000417538.2_Silent_p.L20L|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Silent_p.L20L NM_001282867.1|NM_016124.3 NP_001269796.1|NP_057208 Q02161 RHD_HUMAN Rh blood group, D antigen 20 integral to plasma membrane breast(2)|large_intestine(4)|lung(7)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCCTAACACTGGAAGCAGCTC 0.552000 16 42 0 0 0.004007 0 0 DCAF15 90379 broad.mit.edu 37 19 14065241 14065241 + Silent SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:14065241C>G ENST00000254337.6 + 2 243 c.222C>G c.(220-222)ctC>ctG p.L74L NM_138353.2 NP_612362.2 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 74 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1) 11 AGGACTTCCTCTATGCAGGGT 0.667000 5 23 0 0 0.000602 0 0 TECTA 7007 broad.mit.edu 37 11 121032972 121032972 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:121032972G>C ENST00000392793.1 + 16 5436 c.5165G>C c.(5164-5166)tGc>tCc p.C1722S TECTA_ENST00000264037.2_Missense_Mutation_p.C1722S O75443 TECTA_HUMAN tectorin alpha 1722 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGGACGGCTGCTACAGCCAC 0.612000 14 14 0 0 0.002450 0 0 COL7A1 1294 broad.mit.edu 37 3 48611123 48611123 + Splice_Site SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:48611123C>T ENST00000328333.8 - 81 6680 c.6573G>A c.(6571-6573)ccG>ccA p.P2191P COL7A1_ENST00000454817.1_Splice_Site_p.P2159P NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2191 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGTCACTCACCGGGGCACCAG 0.592000 4 10 0 0 0.000602 0 0 AP3D1 8943 broad.mit.edu 37 19 2132479 2132479 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:2132479G>A ENST00000355272.6 - 5 659 c.453C>T c.(451-453)atC>atT p.I151I AP3D1_ENST00000345016.5_Silent_p.I151I|AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000356926.4_Silent_p.I151I NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 151 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGTGTCATGATGTCATTTG 0.567000 29 73 0 0 0.006320 0 0 FNIP2 57600 broad.mit.edu 37 4 159789595 159789595 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:159789595G>C ENST00000264433.6 + 13 1882 c.1807G>C c.(1807-1809)Gag>Cag p.E603Q FNIP2_ENST00000379346.3_Missense_Mutation_p.E626Q NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 603 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) TGAGTGCCCAGAGGGCACTGA 0.597000 9 33 0 0 0.004482 0 0 SV2C 22987 broad.mit.edu 37 5 75428132 75428132 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:75428132C>G ENST00000502798.2 + 2 999 c.557C>G c.(556-558)cCa>cGa p.P186R SV2C_ENST00000322285.7_Missense_Mutation_p.P186R NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 186 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CTCTGCATCCCAAATTCAGGA 0.483000 6 23 0 0 0.003080 0 0 AHR 196 broad.mit.edu 37 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr7:17375399G>C ENST00000242057.4 + 9 1792 c.1149G>C c.(1147-1149)caG>caC p.Q383H AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 383 PAC. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.Q383H(2) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) TTGTAACTCAGAGACCACTAA 0.348000 6 16 0 0 0.001984 0 0 SLC35D1 23169 broad.mit.edu 37 1 67519607 67519607 + Silent SNP C C A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:67519607C>A ENST00000235345.5 - 1 175 c.90G>T c.(88-90)ggG>ggT p.G30G NM_015139.2 NP_055954.1 Q9NTN3 S35D1_HUMAN solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 30 chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process integral to endoplasmic reticulum membrane UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(3)|lung(4) 10 Lorazepam(DB00186) CCGACGCCATCCCCAGCTCCT 0.602000 8 28 5.18039e-06 5.54114e-06 0.003080 1 0 IFNK 56832 broad.mit.edu 37 9 27524619 27524619 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr9:27524619C>T ENST00000276943.2 + 1 308 c.285C>T c.(283-285)ttC>ttT p.F95F MOB3B_ENST00000262244.5_Intron NM_020124.2 NP_064509.2 Q9P0W0 IFNK_HUMAN interferon, kappa 95 cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus extracellular space cytokine activity|interferon-alpha/beta receptor binding large_intestine(1) 1 all_neural(11;7.9e-11) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158) TACAGGCCTTCAACATCTTCA 0.428000 7 98 0 0 0.004482 0 0 GDE1 51573 broad.mit.edu 37 16 19519095 19519095 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr16:19519095C>T ENST00000353258.3 - 4 730 c.550G>A c.(550-552)Gag>Aag p.E184K NM_016641.3 NP_057725.1 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 184 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 13 TTTAGAGCCTCAGTAGCCTGT 0.328000 10 45 0 0 0.006214 0 0 HSPG2 3339 broad.mit.edu 37 1 22158275 22158275 + Nonsense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:22158275G>C ENST00000374695.3 - 82 11301 c.11222C>G c.(11221-11223)tCa>tGa p.S3741* NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3741 Laminin G-like 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGCCATGCCTGAGCCTGCATC 0.657000 7 18 0 0 0.004482 0 0 ZSCAN16 80345 broad.mit.edu 37 6 28097711 28097711 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:28097711G>A ENST00000340487.4 + 4 1179 c.1030G>A c.(1030-1032)Gca>Aca p.A344T ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA NM_025231.1 NP_079507.1 Q9H4T2 ZSC16_HUMAN zinc finger and SCAN domain containing 16 344 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 AATTCATACCGCAAATAAACT 0.363000 3 34 0 0 0.004672 0 0 EDC4 23644 broad.mit.edu 37 16 67915970 67915970 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr16:67915970G>C ENST00000358933.5 + 23 3357 c.3118G>C c.(3118-3120)Gag>Cag p.E1040Q NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 1040 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) TGGGCGGCTAGAGCGCAGCAT 0.597000 8 15 0 0 0.004482 0 0 CEP55 55165 broad.mit.edu 37 10 95287814 95287814 + Silent SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:95287814C>G ENST00000371485.3 + 9 1603 c.1299C>G c.(1297-1299)ctC>ctG p.L433L NM_001127182.1|NM_018131.4 NP_001120654|NP_060601 Q53EZ4 CEP55_HUMAN centrosomal protein 55kDa 433 Required for localization to the interphase centrosome and to the midbody during cytokinesis. cell division|mitosis centriole|cleavage furrow|midbody kidney(1)|large_intestine(5)|lung(6)|stomach(1) 13 Colorectal(252;0.207) CTGCTGCACTCAATGAAAGCC 0.458000 25 51 0 0 0.002780 0 0 C5orf28 64417 broad.mit.edu 37 5 43446647 43446647 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:43446647G>C ENST00000500337.2 - 5 656 c.325C>G c.(325-327)Ctc>Gtc p.L109V C5orf28_ENST00000510130.1_Missense_Mutation_p.L7V|C5orf28_ENST00000537319.1_5'UTR|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000397080.3_Missense_Mutation_p.L109V|C5orf28_ENST00000512085.1_Missense_Mutation_p.L109V Q0VDI3 CE028_HUMAN chromosome 5 open reading frame 28 109 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(5) 9 Lung NSC(6;2.07e-05) CTTCGCGGGAGAGTCAAAGCA 0.388000 6 32 0 0 0.004482 0 0 TECPR1 25851 broad.mit.edu 37 7 97862900 97862900 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr7:97862900G>A ENST00000447648.2 - 11 1804 c.1505C>T c.(1504-1506)tCg>tTg p.S502L TECPR1_ENST00000542604.1_Missense_Mutation_p.S432L|TECPR1_ENST00000379795.3_Missense_Mutation_p.S502L Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 502 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 GCCAGCGGCCGAGTGGCTGGG 0.692000 8 2 0 0 0.010729 0 0 FBXO47 494188 broad.mit.edu 37 17 37099876 37099876 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:37099876C>G ENST00000378079.2 - 8 1106 c.907G>C c.(907-909)Gat>Cat p.D303H NM_001008777.2 NP_001008777.2 Q5MNV8 FBX47_HUMAN F-box protein 47 303 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 ATAACATCATCTGCTGTCCAC 0.308000 7 60 0 0 0.001984 0 0 CCT8 10694 broad.mit.edu 37 21 30428810 30428810 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr21:30428810C>T ENST00000286788.4 - 15 1839 c.1633G>A c.(1633-1635)Gac>Aac p.D545N CCT8_ENST00000540844.1_Missense_Mutation_p.D472N|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.D526N NM_006585.2 NP_006576.2 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 545 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3) 14 TCATTTTGGTCATCATCCCAG 0.383000 44 23 0 0 0.014410 0 0 CIDECP 152302 broad.mit.edu 37 3 10059481 10059481 + RNA SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:10059481G>T ENST00000432401.1 - 0 505 CCTGTGTGGTGAGGGAGGTGT 0.627000 5 17 3.59834e-05 3.8065e-05 0.001168 1 0 ZFP69B 65243 broad.mit.edu 37 1 40928311 40928311 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:40928311C>G ENST00000411995.2 + 6 1030 c.655C>G c.(655-657)Cag>Gag p.Q219E ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.Q117E NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B AACATTCACTCAGGAGAGAGG 0.403000 36 114 0 0 0.003755 0 0 DHX30 22907 broad.mit.edu 37 3 47890700 47890700 + Nonsense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:47890700C>G ENST00000446256.2 + 20 3403 c.2831C>G c.(2830-2832)tCa>tGa p.S944* DHX30_ENST00000445061.1_Nonsense_Mutation_p.S983*|DHX30_ENST00000457607.1_Nonsense_Mutation_p.S1011*|DHX30_ENST00000348968.4_Nonsense_Mutation_p.S955* NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 983 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AAGCAGTTCTCAGAGAACATT 0.592000 20 71 0 0 0.010504 0 0 ATP1A2 477 broad.mit.edu 37 1 160109760 160109760 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:160109760G>A ENST00000361216.3 + 22 3109 c.3020G>A c.(3019-3021)cGg>cAg p.R1007Q ATP1A2_ENST00000459972.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.R996Q NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 1007 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.R1007P(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CTCATCCTGCGGCGGTATCCT 0.587000 30 53 0 0 0.009535 0 0 CASC3 22794 broad.mit.edu 37 17 38324653 38324653 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:38324653C>G ENST00000264645.7 + 11 2174 c.1948C>G c.(1948-1950)Ctg>Gtg p.L650V NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 650 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 ACCGCCTCATCTGTATCCTAA 0.463000 OREG0024392 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 72 0 0 0.001984 0 0 SIK1 150094 broad.mit.edu 37 21 44845317 44845317 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr21:44845317C>T ENST00000270162.6 - 3 375 c.243G>A c.(241-243)ctG>ctA p.L81L NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 81 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 GTGGATGGTTCAGAAGCTTCA 0.353000 8 14 0 0 0.004482 0 0 ERCC4 2072 broad.mit.edu 37 16 14042115 14042115 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr16:14042115C>T ENST00000311895.7 + 11 2671 c.2662C>T c.(2662-2664)Ctg>Ttg p.L888L NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 888 Interaction with EME1 and ERCC1. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 CACGAGTATTCTGGGGAATGC 0.458000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 23 52 0 0 0.012319 0 0 RPS18 6222 broad.mit.edu 37 6 33244237 33244237 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:33244237G>C ENST00000439602.2 + 6 563 c.453G>C c.(451-453)aaG>aaC p.K151N RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_Missense_Mutation_p.K81N P62269 RS18_HUMAN ribosomal protein S18 151 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 9 TGTCCAAGAAGAAATAAGTCT 0.488000 6 18 0 0 0.001168 0 0 TMEM132E 124842 broad.mit.edu 37 17 32957083 32957083 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:32957083C>T ENST00000321639.5 + 6 1453 c.1125C>T c.(1123-1125)gtC>gtT p.V375V NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 375 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CCATCCCTGTCAAGGTCATTG 0.572000 8 30 0 0 0.003080 0 0 AGPAT9 84803 broad.mit.edu 37 4 84457852 84457852 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:84457852C>T ENST00000395226.2 + 2 295 c.77C>T c.(76-78)tCg>tTg p.S26L AGPAT9_ENST00000264409.4_Missense_Mutation_p.S26L NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 26 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) CTTTTACCTTCGGTCTTCGGA 0.582000 7 26 0 0 0.001984 0 0 ZBTB45 84878 broad.mit.edu 37 19 59027763 59027763 + Splice_Site SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:59027763C>T ENST00000594051.1 - 2 1758 c.1278G>A c.(1276-1278)tcG>tcA p.S426S ZBTB45_ENST00000600990.1_Splice_Site_p.S426S|ZBTB45_ENST00000354590.3_Splice_Site_p.S426S Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 426 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) CTGGCTCACCCGAGTGGATGA 0.567000 10 21 0 0 0.006214 0 0 DHX37 57647 broad.mit.edu 37 12 125451354 125451354 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:125451354C>G ENST00000308736.2 - 12 1673 c.1575G>C c.(1573-1575)aaG>aaC p.K525N DHX37_ENST00000544745.1_Missense_Mutation_p.K312N NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 525 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CCCGCGCCTTCTTGGCCCTGG 0.602000 24 57 0 0 0.003330 0 0 ZNF574 64763 broad.mit.edu 37 19 42584283 42584283 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:42584283C>T ENST00000600245.1 + 2 2180 c.1525C>T c.(1525-1527)Cac>Tac p.H509Y ZNF574_ENST00000222339.7_Missense_Mutation_p.H599Y|ZNF574_ENST00000359044.4_Missense_Mutation_p.H509Y Q6ZN55 ZN574_HUMAN zinc finger protein 574 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) GAAGAAGTCTCACGTGCGTAA 0.602000 93 222 0 0 0.014410 0 0 DDOST 1650 broad.mit.edu 37 1 20980159 20980159 + Missense_Mutation SNP C C G rs144834631 TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:20980159C>G ENST00000375048.3 - 8 1059 c.954G>C c.(952-954)gaG>gaC p.E318D DDOST_ENST00000602624.2_Missense_Mutation_p.E301D|DDOST_ENST00000415136.2_Missense_Mutation_p.E281D NM_005216.4 NP_005207 P39656 OST48_HUMAN dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic) 318 innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation integral to membrane|microsome|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1) 13 all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GTGGGGCTGTCTCGCCCACCC 0.592000 4 35 0 0 0.009096 0 0 IL12RB1 3594 broad.mit.edu 37 19 18172996 18172996 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:18172996C>T ENST00000600835.2 - 15 2008 c.1710G>A c.(1708-1710)ctG>ctA p.L570L IL12RB1_ENST00000593993.2_Silent_p.L570L P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 GTTACCTGTTCAGGCCAAGGT 0.562000 8 21 0 0 0.004482 0 0 CASC3 22794 broad.mit.edu 37 17 38323834 38323834 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:38323834C>T ENST00000264645.7 + 9 1846 c.1620C>T c.(1618-1620)atC>atT p.I540I NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 540 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 CAGTGCATATCAGTATCATGG 0.517000 5 61 0 0 0.001168 0 0 BBS2 583 broad.mit.edu 37 16 56518757 56518757 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr16:56518757C>T ENST00000245157.5 - 17 2502 c.2082G>A c.(2080-2082)gtG>gtA p.V694V BBS2_ENST00000568104.1_Silent_p.V648V NM_031885.3 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 694 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 AAGCAGTGATCACCTGGTTCT 0.388000 Bardet-Biedl syndrome 13 30 0 0 0.002450 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5186179 5186179 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:5186179C>T ENST00000274181.7 + 5 916 c.778C>T c.(778-780)Ccc>Tcc p.P260S ADAMTS16_ENST00000511368.1_Missense_Mutation_p.P260S NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 260 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GCCCCAGCCTCCCAAGGAAGA 0.483000 6 197 0 0 0.001984 0 0 ZBTB2 57621 broad.mit.edu 37 6 151687168 151687168 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:151687168C>T ENST00000325144.4 - 3 1173 c.1033G>A c.(1033-1035)Gac>Aac p.D345N NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) TTGTCAATGTCAGCAATGTCT 0.542000 32 65 0 0 0.008361 0 0 TNIP3 79931 broad.mit.edu 37 4 122085298 122085298 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:122085298G>C ENST00000507879.1 - 4 252 c.193C>G c.(193-195)Cca>Gca p.P65A TNIP3_ENST00000057513.3_5'UTR|TNIP3_ENST00000509841.1_Missense_Mutation_p.P72A|TNIP3_ENST00000454328.1_5'UTR NM_001128843.2 NP_001122315.2 Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 77 NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2) 24 GTTTTTCCTGGAGTCTTGGAA 0.378000 22 37 0 0 0.010504 0 0 POMZP3 22932 broad.mit.edu 37 7 76254892 76254892 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr7:76254892C>T ENST00000310842.4 - 3 858 c.174G>A c.(172-174)agG>agA p.R58R UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Silent_p.R58R|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA NM_012230.3 NP_036362.3 Q6PJE2 POZP3_HUMAN POM121 and ZP3 fusion 58 kidney(3)|lung(2) 5 Myeloproliferative disorder(862;0.204) CCTCCACTGTCCTTTTCTTCT 0.463000 56 146 0 0 0.014410 0 0 CCDC50 152137 broad.mit.edu 37 3 191107383 191107383 + Missense_Mutation SNP C C G rs146128834 TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:191107383C>G ENST00000392455.3 + 10 1491 c.893C>G c.(892-894)tCt>tGt p.S298C CCDC50_ENST00000392456.3_Missense_Mutation_p.S474C NM_174908.3 NP_777568.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 298 cytoplasm protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) TCAGAGTCCTCTCATAAAGGT 0.398000 26 99 0 0 0.005443 0 0 SPTBN2 6712 broad.mit.edu 37 11 66454989 66454989 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:66454989G>C ENST00000533211.1 - 35 6962 c.6631C>G c.(6631-6633)Cga>Gga p.R2211G SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2211G|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2211G O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 2211 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TCTGGGCCTCGAGGCGGCAGG 0.677000 26 42 0 0 0.006320 0 0 MTOR 2475 broad.mit.edu 37 1 11319377 11319377 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:11319377C>G ENST00000361445.4 - 2 166 c.90G>C c.(88-90)aaG>aaC p.K30N NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 30 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CATTCCGGCTCTTTAGGCCAC 0.597000 40 88 0 0 0.008740 0 0 USMG5 84833 broad.mit.edu 37 10 105152202 105152202 + Missense_Mutation SNP C C G rs144686863 TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:105152202C>G ENST00000369825.1 - 3 495 c.13G>C c.(13-15)Gaa>Caa p.E5Q USMG5_ENST00000309579.3_Missense_Mutation_p.E5Q|USMG5_ENST00000369811.1_Missense_Mutation_p.E5Q|USMG5_ENST00000337003.4_Missense_Mutation_p.E5Q|USMG5_ENST00000369815.1_Missense_Mutation_p.E5Q Q96IX5 USMG5_HUMAN up-regulated during skeletal muscle growth 5 homolog (mouse) 5 integral to membrane breast(1) 1 Colorectal(252;0.142) Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197) GCATCACTTTCTGGACCTGCC 0.289000 8 32 0 0 0.006214 0 0 TMEM206 55248 broad.mit.edu 37 1 212558699 212558699 + Missense_Mutation SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:212558699G>T ENST00000261455.4 - 4 549 c.412C>A c.(412-414)Ctg>Atg p.L138M TMEM206_ENST00000535273.1_Missense_Mutation_p.L199M|TMEM206_ENST00000471937.1_5'UTR NM_018252.2 NP_060722.2 Q9H813 TM206_HUMAN transmembrane protein 206 138 integral to membrane breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) GGGCTTGTCAGAGGAGGAATG 0.547000 16 54 6.31663e-08 6.87134e-08 0.003163 1 0 BMP1 649 broad.mit.edu 37 8 22058657 22058657 + Missense_Mutation SNP C C T rs145042921 TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr8:22058657C>T ENST00000306349.8 + 16 2288 c.2134C>T c.(2134-2136)Cgg>Tgg p.R712W BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306385.5_Intron NM_001199.3 NP_001190.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 556 EGF-like 2; calcium-binding (Potential). cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding p.R712W(1) breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GCAGCCCCCTCGGGGACGCCC 0.627000 54 56 0 0 0.014410 0 0 TBKBP1 9755 broad.mit.edu 37 17 45774088 45774088 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:45774088C>T ENST00000361722.3 + 2 1086 c.237C>T c.(235-237)atC>atT p.I79I NM_014726.2 NP_055541.1 A7MCY6 TBKB1_HUMAN TBK1 binding protein 1 79 innate immune response endometrium(5)|kidney(1)|lung(1) 7 ACCCACTGATCAGTGACTTTG 0.597000 7 45 0 0 0.001984 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 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 5 15 0 0 0.001984 0 0 GTF2E1 2960 broad.mit.edu 37 3 120499998 120499998 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:120499998C>G ENST00000283875.5 + 5 1094 c.1001C>G c.(1000-1002)tCt>tGt p.S334C NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 334 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) AAGACTTCCTCTGCCATGGCT 0.552000 9 21 0 0 0.004482 0 0 ZFP69B 65243 broad.mit.edu 37 1 40929091 40929091 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:40929091C>G ENST00000411995.2 + 6 1810 c.1435C>G c.(1435-1437)Cat>Gat p.H479D ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.H377D NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B TGAATGCAGTCATTGTGGGAA 0.378000 22 56 0 0 0.010504 0 0 TLCD1 116238 broad.mit.edu 37 17 27051776 27051776 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:27051776G>C ENST00000292090.3 - 4 606 c.496C>G c.(496-498)Ctc>Gtc p.L166V TLCD1_ENST00000394933.3_Missense_Mutation_p.L119V NM_138463.3 NP_612472.1 Q96CP7 TLCD1_HUMAN TLC domain containing 1 166 TLC. integral to membrane breast(2)|endometrium(1)|kidney(2)|lung(2) 7 Lung NSC(42;0.00431) CGGTAGAGGAGATGATCCTGG 0.488000 30 91 0 0 0.013726 0 0 SLC25A41 284427 broad.mit.edu 37 19 6426429 6426429 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:6426429C>T ENST00000321510.6 - 7 1152 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K NM_173637.3 NP_775908.2 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 362 transmembrane transport integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 6 TTCATGGCTTCGTACACCACA 0.592000 15 28 0 0 0.003163 0 0 CSNK1G3 1456 broad.mit.edu 37 5 122923805 122923805 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:122923805C>T ENST00000395412.1 + 7 1436 c.717C>T c.(715-717)ttC>ttT p.F239F CSNK1G3_ENST00000361991.2_Silent_p.F239F|CSNK1G3_ENST00000512718.3_Silent_p.F164F|CSNK1G3_ENST00000395411.1_Silent_p.F239F|CSNK1G3_ENST00000345990.4_Silent_p.F239F|CSNK1G3_ENST00000510842.2_Silent_p.F239F|CSNK1G3_ENST00000521364.1_Silent_p.F239F|CSNK1G3_ENST00000360683.2_Silent_p.F239F|CSNK1G3_ENST00000511130.2_Silent_p.F126F Q9Y6M4 KC1G3_HUMAN casein kinase 1, gamma 3 239 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) GTCATATGTTCATGTATTTTC 0.294000 30 38 0 0 0.012213 0 0 FBXO40 51725 broad.mit.edu 37 3 121345706 121345706 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:121345706G>A ENST00000338040.4 + 4 2493 c.2079G>A c.(2077-2079)gaG>gaA p.E693E NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 693 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) AGGCCCGAGAGAGCTTAGTCT 0.483000 18 41 0 0 0.004990 0 0 MBD6 114785 broad.mit.edu 37 12 57919626 57919626 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:57919626C>T ENST00000355673.3 + 6 1231 c.875C>T c.(874-876)tCa>tTa p.S292L MBD6_ENST00000431731.2_Missense_Mutation_p.S292L NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 292 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CCAGTGTCTTCAGCCACTATG 0.662000 25 34 0 0 0.003954 0 0 RANBP1 5902 broad.mit.edu 37 22 20109874 20109874 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr22:20109874C>G ENST00000402752.1 + 3 466 c.240C>G c.(238-240)caC>caG p.H80Q RANBP1_ENST00000331821.3_Missense_Mutation_p.H80Q|RANBP1_ENST00000430524.1_5'UTR NM_001278640.1 NP_001265569.1 P43487 RANG_HUMAN RAN binding protein 1 80 RanBD1. intracellular transport|signal transduction|viral reproduction nuclear envelope GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding p.K81fs*27(1) breast(1)|large_intestine(1)|lung(1)|ovary(1) 4 Colorectal(54;0.0993) TCCTGAAGCACAAGGAGAAAG 0.557000 20 39 0 0 0.010504 0 0 NOB1 28987 broad.mit.edu 37 16 69783014 69783014 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr16:69783014C>G ENST00000268802.5 - 6 562 c.533G>C c.(532-534)aGa>aCa p.R178T NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 178 nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GTCCTCACCTCTGTCAATCTG 0.517000 20 46 0 0 0.012319 0 0 INTS5 80789 broad.mit.edu 37 11 62414680 62414680 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:62414680G>C ENST00000330574.2 - 2 2924 c.2872C>G c.(2872-2874)Cag>Gag p.Q958E NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 958 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 ATGAACTTCTGAGGCAAGGGC 0.567000 75 149 0 0 0.014410 0 0 MYC 4609 broad.mit.edu 37 8 128750924 128750924 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr8:128750924C>G ENST00000377970.2 + 2 971 c.461C>G c.(460-462)tCg>tGg p.S154W MYC_ENST00000524013.1_Missense_Mutation_p.S153W|MYC_ENST00000259523.6_Missense_Mutation_p.S139W NM_002467.4 NP_002458 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 139 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) AGCGGCTTCTCGGCCGCCGCC 0.622000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 25 0 0 0.004482 0 0 BMP5 653 broad.mit.edu 37 6 55684502 55684502 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:55684502C>T ENST00000370830.3 - 2 1332 c.634G>A c.(634-636)Gaa>Aaa p.E212K BMP5_ENST00000446683.2_Missense_Mutation_p.E212K NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 212 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TTAATTGTTTCATTTTCAAAT 0.323000 15 27 0 0 0.003163 0 0 EVPL 2125 broad.mit.edu 37 17 74005100 74005100 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:74005100C>G ENST00000301607.3 - 22 4439 c.4186G>C c.(4186-4188)Gat>Cat p.D1396H EVPL_ENST00000586740.1_Missense_Mutation_p.D1418H NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1396 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 ACCTCCTCATCCAGGCTCCCG 0.697000 41 111 0 0 0.007835 0 0 ATG14 22863 broad.mit.edu 37 14 55862701 55862701 + Splice_Site SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr14:55862701C>G ENST00000247178.5 - 3 320 c.e3-1 NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 TTTTAACACTCTGTGAGGAAA 0.294000 9 16 0 0 0.004482 0 0 PPAT 5471 broad.mit.edu 37 4 57265347 57265347 + Nonsense_Mutation SNP C C A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:57265347C>A ENST00000264220.2 - 9 1371 c.1234G>T c.(1234-1236)Gag>Tag p.E412* NM_002703.4 NP_002694.3 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 412 glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 20 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) TTACTTACCTCTTTTGCACCA 0.313000 23 40 9.95505e-16 1.11776e-15 0.014323 1 0 ZNF451 26036 broad.mit.edu 37 6 57013278 57013278 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:57013278C>T ENST00000370706.4 + 10 2639 c.2395C>T c.(2395-2397)Cat>Tat p.H799Y ZNF451_ENST00000491832.2_Missense_Mutation_p.H799Y|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.H799Y|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 799 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CAAAGCATTTCATGATCCTGA 0.423000 15 33 0 0 0.003163 0 0 RANBP17 64901 broad.mit.edu 37 5 170341202 170341202 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:170341202C>T ENST00000523189.1 + 8 956 c.792C>T c.(790-792)ttC>ttT p.F264F NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 264 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGGATCTTTTCTTCAATTTGT 0.308000 T TRD@ ALL 17 14 0 0 0.008871 0 0 FAM83H 286077 broad.mit.edu 37 8 144810877 144810877 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr8:144810877C>G ENST00000388913.3 - 5 879 c.754G>C c.(754-756)Gag>Cag p.E252Q NM_198488.3 NP_940890 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 252 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TGGATCTTCTCAAAGGACCAC 0.657000 13 22 0 0 0.001855 0 0 SLC35B3 51000 broad.mit.edu 37 6 8422706 8422706 + Nonsense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:8422706G>A ENST00000379660.4 - 5 1020 c.571C>T c.(571-573)Caa>Taa p.Q191* SLC35B3_ENST00000339306.5_Nonsense_Mutation_p.Q191* NM_001142540.1|NM_001142541.1|NM_015948.3 NP_001136012.1|NP_001136013.1|NP_057032.2 Q9H1N7 S35B3_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 191 transmembrane transport Golgi membrane|integral to membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1) 15 Ovarian(93;0.0569) ACTATACCTTGAATAAAAACT 0.333000 12 28 0 0 0.010729 0 0 IL5RA 3568 broad.mit.edu 37 3 3133952 3133952 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:3133952C>T ENST00000446632.2 - 9 1524 c.950G>A c.(949-951)aGa>aAa p.R317K IL5RA_ENST00000438560.1_Missense_Mutation_p.R317K|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000311981.8_Missense_Mutation_p.R317K|IL5RA_ENST00000430514.2_Missense_Mutation_p.R317K|IL5RA_ENST00000383846.1_Missense_Mutation_p.R317K|IL5RA_ENST00000456302.1_Missense_Mutation_p.R317K|IL5RA_ENST00000256452.3_Missense_Mutation_p.R317K NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 317 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) CCCTGCCTCTCTGCACATGGA 0.403000 13 48 0 0 0.001855 0 0 ZNF700 90592 broad.mit.edu 37 19 12059200 12059200 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:12059200C>G ENST00000482090.1 + 3 725 c.307C>G c.(307-309)Cct>Gct p.P103A ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.P121A|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA Q9H0M5 ZN700_HUMAN zinc finger protein 700 121 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 GAAAGCTTCTCCTGAAGTAAA 0.403000 55 133 0 0 0.014410 0 0 EP400 57634 broad.mit.edu 37 12 132547066 132547066 + Silent SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:132547066C>G ENST00000333577.4 + 48 8371 c.8262C>G c.(8260-8262)ctC>ctG p.L2754L EP400_ENST00000389561.2_Silent_p.L2718L|EP400_ENST00000332482.4_Silent_p.L2681L|EP400_ENST00000330386.6_Silent_p.L2637L|EP400_ENST00000389562.2_Silent_p.L2717L Q96L91 EP400_HUMAN E1A binding protein p400 2754 Interaction with ZNF42 (By similarity). 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) TCCAGCTTCTCAGgcagcagc 0.567000 22 42 0 0 0.003330 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149003653 149003653 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:149003653C>T ENST00000333677.6 + 10 1577 c.1414C>T c.(1414-1416)Cgc>Tgc p.R472C NM_001001669.2 NP_001001669.2 A1IGU5 ARH37_HUMAN Rho guanine nucleotide exchange factor (GEF) 37 472 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 TAACCAGCTTCGCTCCTTTCA 0.582000 22 24 0 0 0.010504 0 0 STAU2 27067 broad.mit.edu 37 8 74601043 74601043 + Missense_Mutation SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr8:74601043G>T ENST00000355780.5 - 4 242 c.24C>A c.(22-24)ttC>ttA p.F8L STAU2_ENST00000522509.1_Missense_Mutation_p.F8L|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000519961.1_Missense_Mutation_p.F40L|STAU2_ENST00000517542.1_Missense_Mutation_p.F2L|STAU2_ENST00000521727.1_Missense_Mutation_p.F20L|STAU2_ENST00000521210.1_Intron|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000522695.1_Missense_Mutation_p.F8L|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521419.1_Missense_Mutation_p.F2L|RP11-463D19.2_ENST00000358757.5_3'UTR|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000524104.1_Missense_Mutation_p.F8L|STAU2_ENST00000524300.1_Missense_Mutation_p.F40L NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 40 DRBM 1. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) GCTGCACTGAGAACATCTTAG 0.373000 47 72 2.24722e-20 2.54552e-20 0.014410 1 0 ATP13A3 79572 broad.mit.edu 37 3 194159590 194159590 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:194159590C>G ENST00000439040.1 - 17 2613 c.1822G>C c.(1822-1824)Gaa>Caa p.E608Q ATP13A3_ENST00000256031.4_Missense_Mutation_p.E608Q Q9H7F0 AT133_HUMAN ATPase type 13A3 608 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CTCACCATTTCTTGGTTTCCT 0.348000 20 58 0 0 0.012319 0 0 C12orf5 57103 broad.mit.edu 37 12 4446328 4446328 + Splice_Site SNP T T C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:4446328T>C ENST00000179259.4 + 3 259 c.e3+2 C12orf5_ENST00000537251.1_Splice_Site NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 intracellular fructose-2,6-bisphosphate 2-phosphatase activity endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) ACAAAGCAGGTACatttattt 0.433000 9 25 0 0 0.004482 0 0 C11orf30 56946 broad.mit.edu 37 11 76253250 76253250 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:76253250C>T ENST00000533248.1 + 15 2314 c.2275C>T c.(2275-2277)Cta>Tta p.L759L C11orf30_ENST00000529032.1_Intron|C11orf30_ENST00000525038.1_Intron|C11orf30_ENST00000525919.1_Intron|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000524767.1_Intron|C11orf30_ENST00000334736.3_Intron|C11orf30_ENST00000524490.1_Intron Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 745 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 ATCACCTCCTCTATTTTCAGT 0.493000 41 105 0 0 0.006230 0 0 HUS1B 135458 broad.mit.edu 37 6 656236 656236 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:656236G>C ENST00000380907.2 - 1 727 c.709C>G c.(709-711)Ctg>Gtg p.L237V EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron NM_148959.3 NP_683762.2 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint homolog b (S. pombe) 237 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) AAAAACTGCAGAAGCTTCCGA 0.483000 46 112 0 0 0.014410 0 0 PTPRC 5788 broad.mit.edu 37 1 198725306 198725306 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:198725306C>T ENST00000367376.2 + 33 4082 c.3911C>T c.(3910-3912)tCa>tTa p.S1304L PTPRC_ENST00000594404.1_Missense_Mutation_p.S1143L|PTPRC_ENST00000442510.2_Missense_Mutation_p.S1306L|PTPRC_ENST00000352140.3_Missense_Mutation_p.S1256L|PTPRC_ENST00000348564.6_Missense_Mutation_p.S1145L NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1304 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AATCAAGGTTCATAGGAAAAG 0.413000 12 39 0 0 0.002450 0 0 NDUFV1 4723 broad.mit.edu 37 11 67378662 67378662 + Silent SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:67378662G>C ENST00000322776.6 + 6 1050 c.897G>C c.(895-897)ctG>ctC p.L299L NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000532303.1_Silent_p.L198L|NDUFV1_ENST00000415352.2_Silent_p.L292L|NDUFV1_ENST00000529927.1_Silent_p.L290L NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 299 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) TGAAAGAACTGATTGAGAAGC 0.592000 14 37 0 0 0.002450 0 0 SLC4A7 9497 broad.mit.edu 37 3 27418302 27418302 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:27418302C>G ENST00000295736.5 - 25 3668 c.3598G>C c.(3598-3600)Gaa>Caa p.E1200Q SLC4A7_ENST00000435667.2_Missense_Mutation_p.E1121Q|SLC4A7_ENST00000446700.1_Missense_Mutation_p.E1192Q|SLC4A7_ENST00000445684.1_Missense_Mutation_p.E1196Q|SLC4A7_ENST00000455077.1_Missense_Mutation_p.E1117Q|SLC4A7_ENST00000440156.1_Missense_Mutation_p.E1232Q|SLC4A7_ENST00000454389.1_Missense_Mutation_p.E1245Q|SLC4A7_ENST00000428386.1_Missense_Mutation_p.E1076Q|SLC4A7_ENST00000388777.4_Missense_Mutation_p.E786Q|SLC4A7_ENST00000437179.1_Missense_Mutation_p.E1081Q|SLC4A7_ENST00000425128.2_3'UTR NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 1200 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GGTTCATCTTCAAAACTTATT 0.264000 11 38 0 0 0.013537 0 0 KIF1B 23095 broad.mit.edu 37 1 10380107 10380107 + Nonsense_Mutation SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:10380107G>T ENST00000377086.1 + 23 2324 c.2122G>T c.(2122-2124)Gag>Tag p.E708* KIF1B_ENST00000263934.6_Nonsense_Mutation_p.E662*|KIF1B_ENST00000377081.1_Nonsense_Mutation_p.E708* O60333 KIF1B_HUMAN kinesin family member 1B 708 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) tCAGGACTATGAGAGTAAATT 0.438000 10 22 0.000673444 0.000706564 0.008291 1 0 MYH13 8735 broad.mit.edu 37 17 10247123 10247123 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:10247123C>G ENST00000418404.3 - 15 2051 c.1888G>C c.(1888-1890)Gag>Cag p.E630Q MYH13_ENST00000252172.4_Missense_Mutation_p.E630Q Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 630 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTACCTGTCTCTGCACCAGCA 0.468000 5 16 0 0 0.000602 0 0 NME1 4830 broad.mit.edu 37 17 49239126 49239126 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:49239126G>C ENST00000336097.3 + 6 690 c.454G>C c.(454-456)Gag>Cag p.E152Q NME1_ENST00000393196.3_Missense_Mutation_p.E127Q|NME1_ENST00000511355.1_3'UTR|NME2_ENST00000376392.6_Intron|NME1-NME2_ENST00000393198.3_Intron|NME2_ENST00000393193.2_Intron|NME1-NME2_ENST00000608447.1_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.E152Q|NME2_ENST00000555572.1_Intron NM_198175.1 NP_937818.1 NME/NM23 nucleoside diphosphate kinase 1 endometrium(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) GGAGAGTGCAGAGAAGGAGAT 0.483000 17 61 0 0 0.014323 0 0 LPP 4026 broad.mit.edu 37 3 188242483 188242483 + Missense_Mutation SNP A A G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:188242483A>G ENST00000312675.4 + 5 583 c.337A>G c.(337-339)Agg>Ggg p.R113G LPP_ENST00000543006.1_Missense_Mutation_p.R113G|LPP_ENST00000448637.1_Missense_Mutation_p.R113G NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 113 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) ACTTGAGGAGAGGCGCTCCAG 0.502000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 34 62 0 0 0.010818 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95191898 95191898 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:95191898C>G ENST00000354268.4 + 11 1574 c.1501C>G c.(1501-1503)Cag>Gag p.Q501E SMARCAD1_ENST00000457823.2_Missense_Mutation_p.Q501E|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.Q71E Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 501 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) CAAGCCCTATCAGAAGGTTGG 0.328000 26 51 0 0 0.005443 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31973474 31973474 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr20:31973474C>T ENST00000357886.4 - 7 1011 c.858G>A c.(856-858)gtG>gtA p.V286V CDK5RAP1_ENST00000473997.1_Silent_p.V196V|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000544843.1_Silent_p.V286V|CDK5RAP1_ENST00000346416.2_Silent_p.V286V|CDK5RAP1_ENST00000339269.5_Silent_p.V286V Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 286 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 AAAGCTTCTTCACTTCCTCTA 0.498000 20 56 0 0 0.014323 0 0 RPL23 9349 broad.mit.edu 37 17 37008985 37008985 + Splice_Site SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:37008985C>T ENST00000479035.2 - 3 230 c.98G>A c.(97-99)gGa>gAa p.G33E RPL23_ENST00000394332.1_Splice_Site_p.G33E|RPL23_ENST00000394333.1_Splice_Site_p.G33E|RPL23_ENST00000245857.5_5'UTR|RPL23_ENST00000577407.1_Splice_Site_p.G33E NM_000978.3 NP_000969.1 P62829 RL23_HUMAN ribosomal protein L23 33 endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome endometrium(2)|large_intestine(1) 3 GTTTTTGGCTCCTACAAAAGA 0.473000 43 44 0 0 0.007835 0 0 STAG2 10735 broad.mit.edu 37 X 123196764 123196764 + Nonsense_Mutation SNP A A T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chrX:123196764A>T ENST00000371160.1 + 18 1941 c.1651A>T c.(1651-1653)Aag>Tag p.K551* STAG2_ENST00000371145.3_Nonsense_Mutation_p.K551*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.K551*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.K551*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.K551*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.K482* NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 551 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 GCTTACAGCAAAGGAGAAGAA 0.358000 19 12 0 0 0.007413 0 0 PHLDA3 23612 broad.mit.edu 37 1 201437606 201437606 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:201437606G>A ENST00000367311.3 - 1 706 c.309C>T c.(307-309)gtC>gtT p.V103V PHLDA3_ENST00000367309.1_Silent_p.V103V|PHLDA3_ENST00000485436.1_5'UTR NM_012396.3 NP_036528.1 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, member 3 103 PH. anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding lung(1)|prostate(1) 2 TCTTGAACTTGACCAGGCCTA 0.637000 30 69 0 0 0.008361 0 0 ZNF365 22891 broad.mit.edu 37 10 64159292 64159292 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:64159292G>A ENST00000395254.3 + 5 1248 c.968G>A c.(967-969)cGa>cAa p.R323Q ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR|ZNF365_ENST00000410046.3_Intron NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 p.R323L(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) TGTAGAAGCCGAGGGCACCCG 0.483000 7 59 0 0 0.001984 0 0 B2M 567 broad.mit.edu 37 15 45003774 45003774 + Silent SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr15:45003774C>G ENST00000558401.1 + 1 100 c.30C>G c.(28-30)ctC>ctG p.L10L B2M_ENST00000559916.1_Silent_p.L10L|B2M_ENST00000544417.1_Silent_p.L10L NM_004048.2 NP_004039.1 P61769 B2MG_HUMAN beta-2-microglobulin 10 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) TAGCTGTGCTCGCGCTACTCT 0.617000 9 42 0 0 0.010729 0 0 PSAT1 29968 broad.mit.edu 37 9 80919828 80919828 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr9:80919828C>T ENST00000376588.3 + 4 437 c.369C>T c.(367-369)atC>atT p.I123I PSAT1_ENST00000347159.2_Silent_p.I123I NM_058179.2 NP_478059.1 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 123 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 20 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) CTATAAATATCGTTCACCCTA 0.502000 9 24 0 0 0.006214 0 0 CDON 50937 broad.mit.edu 37 11 125830980 125830980 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:125830980C>T ENST00000392693.3 - 20 3848 c.3721G>A c.(3721-3723)Gaa>Aaa p.E1241K CDON_ENST00000263577.7_Missense_Mutation_p.E1218K|CDON_ENST00000531738.1_Missense_Mutation_p.E595K NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 1241 cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) ATCTCTGTTTCTGAATGGGCA 0.443000 7 13 0 0 0.003080 0 0 CEACAM18 729767 broad.mit.edu 37 19 51984907 51984907 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:51984907C>T ENST00000396477.4 + 3 682 c.661C>T c.(661-663)Ctg>Ttg p.L221L CEACAM18_ENST00000451626.1_Silent_p.L282L NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 282 L -> H (in dbSNP:rs8106673). integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) ACGCATCTCTCTGACTGTGGC 0.527000 11 18 0 0 0.010729 0 0 MDN1 23195 broad.mit.edu 37 6 90374212 90374212 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:90374212C>T ENST00000369393.3 - 85 14345 c.14230G>A c.(14230-14232)Gaa>Aaa p.E4744K MDN1_ENST00000428876.1_Missense_Mutation_p.E4744K Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4744 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.E4744Q(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AAACCTTGTTCTTCAAGCTCC 0.353000 32 93 0 0 0.003271 0 0 COL19A1 1310 broad.mit.edu 37 6 70886415 70886415 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:70886415G>A ENST00000322773.4 + 42 2728 c.2626G>A c.(2626-2628)Gat>Aat p.D876N COL19A1_ENST00000393344.1_Missense_Mutation_p.D498N NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 876 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging p.D876N(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CCAACAGGGAGATCGAGGCCC 0.378000 7 26 0 0 0.001984 0 0 RASAL3 64926 broad.mit.edu 37 19 15562912 15562912 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:15562912C>G ENST00000343625.7 - 17 2921 c.2836G>C c.(2836-2838)Gag>Cag p.E946Q NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 GAATCAAACTCTGAGCTCCTG 0.607000 31 70 0 0 0.008361 0 0 ZNF440 126070 broad.mit.edu 37 19 11943141 11943141 + Nonsense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:11943141C>T ENST00000304060.5 + 4 1314 c.1150C>T c.(1150-1152)Cga>Tga p.R384* NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CAGTTCCCTTCGATATCATGA 0.433000 26 56 0 0 0.003954 0 0 LRCH2 57631 broad.mit.edu 37 X 114357122 114357122 + Missense_Mutation SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chrX:114357122G>T ENST00000317135.8 - 20 2176 c.2146C>A c.(2146-2148)Ctt>Att p.L716I LRCH2_ENST00000538422.1_Missense_Mutation_p.L699I NM_020871.3 NP_065922.3 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 2 716 CH. breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 CAAGCATCAAGAAAATTTTCT 0.323000 4 7 1.23904e-05 1.32164e-05 0.000602 1 0 SEMA3A 10371 broad.mit.edu 37 7 83636753 83636753 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr7:83636753G>A ENST00000265362.4 - 10 1370 c.1056C>T c.(1054-1056)ttC>ttT p.F352F SEMA3A_ENST00000436949.1_Silent_p.F352F NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 ATGGACCAAGGAACACCCTTC 0.453000 16 43 0 0 0.003163 0 0 NBEAL1 65065 broad.mit.edu 37 2 204075686 204075686 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr2:204075686G>C ENST00000449802.1 + 53 8037 c.7704G>C c.(7702-7704)aaG>aaC p.K2568N NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2568 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TTCAGGATAAGAATGCATTAC 0.289000 8 20 0 0 0.003080 0 0 UNC5C 8633 broad.mit.edu 37 4 96123972 96123972 + Silent SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:96123972G>C ENST00000453304.1 - 12 2394 c.2046C>G c.(2044-2046)ctC>ctG p.L682L NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 682 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TGGCCAGCTTGAGGCGCTTCG 0.587000 15 51 0 0 0.003163 0 0 GAS8 2622 broad.mit.edu 37 16 90103657 90103657 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr16:90103657G>A ENST00000268699.4 + 7 896 c.774G>A c.(772-774)atG>atA p.M258I GAS8_ENST00000536122.1_Missense_Mutation_p.M233I|GAS8_ENST00000540721.1_3'UTR NM_001481.2 NP_001472.1 O95995 GAS8_HUMAN growth arrest-specific 8 258 Microtubule-binding. negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) TGGAGGACATGCGGAAGAAGG 0.637000 9 15 0 0 0.006214 0 0 UBE2L3 7332 broad.mit.edu 37 22 21975863 21975863 + Missense_Mutation SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr22:21975863G>T ENST00000342192.4 + 4 568 c.370G>T c.(370-372)Gac>Tac p.D124Y UBE2L3_ENST00000545681.1_Missense_Mutation_p.D92Y|UBE2L3_ENST00000458578.2_Missense_Mutation_p.D182Y NM_003347.3 NP_003338.1 P68036 UB2L3_HUMAN ubiquitin-conjugating enzyme E2L 3 124 cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity UBE2L3/KRAS(2) large_intestine(4) 4 Colorectal(54;0.105) GCTTCGGGCTGACCTAGCTGA 0.473000 8 21 5.18039e-06 5.54114e-06 0.003080 1 0 TRRAP 8295 broad.mit.edu 37 7 98581745 98581745 + Missense_Mutation SNP C C A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr7:98581745C>A ENST00000359863.4 + 60 9273 c.9064C>A c.(9064-9066)Cag>Aag p.Q3022K TRRAP_ENST00000446306.3_Missense_Mutation_p.Q2993K|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q2993K NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3022 FAT. 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) GAATAGCTCTCAGCATGATCC 0.453000 21 60 3.62473e-10 3.98824e-10 0.012319 1 0 DPYS 1807 broad.mit.edu 37 8 105456483 105456483 + Missense_Mutation SNP C C A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr8:105456483C>A ENST00000351513.2 - 4 918 c.786G>T c.(784-786)agG>agT p.R262S NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 262 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TACCATCTCTCCTTGCATCCG 0.483000 8 26 5.18039e-06 5.54114e-06 0.003080 1 0 KRTAP24-1 643803 broad.mit.edu 37 21 31655195 31655195 + Nonsense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr21:31655195G>C ENST00000340345.4 - 1 81 c.56C>G c.(55-57)tCa>tGa p.S19* NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 19 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 AGTTCTGTATGATGTGGTACT 0.493000 10 52 0 0 0.008291 0 0 MAP2K5 5607 broad.mit.edu 37 15 68040934 68040934 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr15:68040934G>A ENST00000178640.5 + 19 1756 c.1129G>A c.(1129-1131)Gat>Aat p.D377N MAP2K5_ENST00000354498.5_Missense_Mutation_p.D341N|MAP2K5_ENST00000395476.2_Missense_Mutation_p.D367N|MAP2K5_ENST00000340972.4_Missense_Mutation_p.D187N NM_145160.2 NP_660143.1 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 377 Protein kinase. nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1) 16 GTGCATTGTTGATGAGGTGAG 0.403000 14 34 0 0 0.002450 0 0 TCHH 7062 broad.mit.edu 37 1 152081424 152081424 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:152081424C>T ENST00000368804.1 - 2 4268 c.4269G>A c.(4267-4269)ctG>ctA p.L1423L NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1423 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTGGCGGCTCAGCTGCTGTT 0.582000 OREG0031687 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 44 97 0 0 0.009718 0 0 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:153247289G>C ENST00000281708.4 - 10 2742 c.1513C>G c.(1513-1515)Cgc>Ggc p.R505G FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 41 82 0 0 0.006999 0 0 TMEFF2 23671 broad.mit.edu 37 2 193049155 193049155 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr2:193049155C>T ENST00000409056.3 - 3 336 c.337G>A c.(337-339)Gag>Aag p.E113K TMEFF2_ENST00000392314.1_Missense_Mutation_p.E113K|TMEFF2_ENST00000272771.5_Missense_Mutation_p.E113K Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 113 Kazal-like 1. extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) AGGTAACACTCATTCTGGTAG 0.468000 14 27 0 0 0.001855 0 0 CACNA1S 779 broad.mit.edu 37 1 201038623 201038623 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:201038623G>A ENST00000362061.3 - 18 2693 c.2467C>T c.(2467-2469)Cgg>Tgg p.R823W CACNA1S_ENST00000367338.3_Missense_Mutation_p.R823W NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 823 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GAATCAGCCCGGATGGGGTCT 0.597000 8 7 0 0 0.004482 0 0 STOM 2040 broad.mit.edu 37 9 124115566 124115566 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr9:124115566G>C ENST00000286713.2 - 4 270 c.253C>G c.(253-255)Ctg>Gtg p.L85V STOM_ENST00000538954.1_Missense_Mutation_p.L34V|STOM_ENST00000347359.2_Intron NM_001270526.1|NM_004099.5 NP_001257455.1|NP_004090.4 P27105 STOM_HUMAN stomatin 85 protein homooligomerization cytoskeleton|integral to plasma membrane|melanosome|membrane raft protein binding endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137) GTGCATGGCAGAATAAAAAAC 0.368000 10 12 0 0 0.006214 0 0 LRP1B 53353 broad.mit.edu 37 2 141359179 141359179 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr2:141359179G>C ENST00000389484.3 - 42 7800 c.6829C>G c.(6829-6831)Cac>Gac p.H2277D NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2277 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGGCTCTGTGATAGGCAAGT 0.448000 TSP Lung(27;0.18) 13 21 0 0 0.013537 0 0 NOTCH4 4855 broad.mit.edu 37 6 32170312 32170312 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:32170312C>T ENST00000375023.3 - 21 3434 c.3296G>A c.(3295-3297)gGa>gAa p.G1099E NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1099 EGF-like 28. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.G1099E(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 ACACAGGCCTCCGTGGTGGCA 0.627000 10 21 0 0 0.010729 0 0 NEU3 10825 broad.mit.edu 37 11 74716489 74716489 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:74716489C>T ENST00000294064.4 + 3 1265 c.338C>T c.(337-339)aCa>aTa p.T113I NEU3_ENST00000531619.1_3'UTR|NEU3_ENST00000529024.1_Silent_p.H42H|NEU3_ENST00000545272.1_Missense_Mutation_p.T4I|NEU3_ENST00000531509.1_Missense_Mutation_p.T113I|NEU3_ENST00000544263.1_Missense_Mutation_p.T80I|NEU3_ENST00000532963.1_Silent_p.H42H NM_006656.5 NP_006647.3 A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 113 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 ATGGAAGCCACACTACCGGGG 0.507000 8 18 0 0 0.003080 0 0 TAS2R5 54429 broad.mit.edu 37 7 141491028 141491028 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr7:141491028G>C ENST00000247883.4 + 1 1012 c.867G>C c.(865-867)aaG>aaC p.K289N NM_018980.2 NP_061853.1 Q9NYW4 TA2R5_HUMAN taste receptor, type 2, member 5 289 chemosensory behavior|sensory perception of taste taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 Melanoma(164;0.0171) TCCTGTGGAAGACAGTGTGTG 0.498000 52 86 0 0 0.014410 0 0 TSEN54 283989 broad.mit.edu 37 17 73515090 73515090 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:73515090G>A ENST00000333213.6 + 6 519 c.483G>A c.(481-483)ctG>ctA p.L161L TSEN54_ENST00000580013.1_3'UTR NM_207346.2 NP_997229.2 Q7Z6J9 SEN54_HUMAN TSEN54 tRNA splicing endonuclease subunit 161 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2) 13 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TCAGCCACCTGAAGAGGTTGG 0.468000 101 117 0 0 0.014410 0 0 DDX42 11325 broad.mit.edu 37 17 61895410 61895410 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:61895410G>C ENST00000578681.1 + 19 3070 c.2469G>C c.(2467-2469)gaG>gaC p.E823D DDX42_ENST00000582985.1_Intron|DDX42_ENST00000583590.1_Missense_Mutation_p.E823D|DDX42_ENST00000359353.5_Missense_Mutation_p.E704D|DDX42_ENST00000457800.2_Missense_Mutation_p.E823D|DDX42_ENST00000389924.2_Missense_Mutation_p.E823D NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 823 Gly-rich.|His-rich.|Necessary for interaction with TP53BP2. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 GTCACGGAGAGACTGGCAATC 0.572000 15 62 0 0 0.002450 0 0 PSG1 5669 broad.mit.edu 37 19 43372456 43372456 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:43372456C>T ENST00000244296.2 - 5 1177 c.1040G>A c.(1039-1041)gGa>gAa p.G347E PSG1_ENST00000595356.1_Missense_Mutation_p.G347E|PSG1_ENST00000403380.3_Missense_Mutation_p.G254E|PSG1_ENST00000436291.2_Missense_Mutation_p.G347E|PSG1_ENST00000595124.1_Missense_Mutation_p.G254E|PSG1_ENST00000312439.6_Missense_Mutation_p.G347E NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) GAGGACTTCTCCTGAACGGTA 0.468000 5 122 0 0 0.003080 0 0 HAUS3 79441 broad.mit.edu 37 4 2242511 2242511 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:2242511C>G ENST00000243706.4 - 2 392 c.163G>C c.(163-165)Gaa>Caa p.E55Q HAUS3_ENST00000443786.2_Missense_Mutation_p.E55Q|HAUS3_ENST00000506763.1_Missense_Mutation_p.E55Q|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 55 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 AATTCTCTTTCAGACAACACG 0.408000 44 74 0 0 0.013114 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20236925 20236925 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chrX:20236925G>C ENST00000379548.4 - 1 54 c.32C>G c.(31-33)tCt>tGt p.S11C RPS6KA3_ENST00000540702.1_Intron|RPS6KA3_ENST00000544447.1_Intron|RPS6KA3_ENST00000379565.3_Intron P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 0 axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 TACCTGTATAGAGCGAACACG 0.313000 14 8 0 0 0.004007 0 0 NOD1 10392 broad.mit.edu 37 7 30485766 30485766 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr7:30485766G>A ENST00000222823.4 - 9 2969 c.2444C>T c.(2443-2445)tCt>tTt p.S815F NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 815 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CCCAACCTCAGAGATTGATTT 0.488000 24 42 0 0 0.006320 0 0 CTSF 8722 broad.mit.edu 37 11 66332410 66332410 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:66332410C>G ENST00000310325.5 - 9 1222 c.1113G>C c.(1111-1113)gaG>gaC p.E371D NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F 371 proteolysis lysosome cysteine-type endopeptidase activity endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CCTTGGCCTTCTCTGCTGAGA 0.607000 34 51 0 0 0.013726 0 0 PREPL 9581 broad.mit.edu 37 2 44549007 44549007 + Nonsense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr2:44549007G>A ENST00000541738.1 - 13 2172 c.1786C>T c.(1786-1788)Cag>Tag p.Q596* PREPL_ENST00000378520.3_Nonsense_Mutation_p.Q619*|PREPL_ENST00000378511.3_Nonsense_Mutation_p.Q623*|PREPL_ENST00000409411.1_Nonsense_Mutation_p.Q596*|PREPL_ENST00000409957.1_Nonsense_Mutation_p.Q596*|PREPL_ENST00000409936.1_Nonsense_Mutation_p.Q685*|PREPL_ENST00000410081.1_Nonsense_Mutation_p.Q685*|PREPL_ENST00000409272.1_Nonsense_Mutation_p.Q685*|PREPL_ENST00000260648.6_Nonsense_Mutation_p.Q685* NM_001171617.1 NP_001165088.1 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like 685 proteolysis cytosol serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCTCCAGGCTGAATATCTAGA 0.393000 17 33 0 0 0.004990 0 0 SVIL 6840 broad.mit.edu 37 10 29752455 29752455 + Missense_Mutation SNP C C A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:29752455C>A ENST00000375398.2 - 37 6692 c.6243G>T c.(6241-6243)aaG>aaT p.K2081N SVIL_ENST00000535393.1_Missense_Mutation_p.K995N|SVIL_ENST00000375400.3_Missense_Mutation_p.K1655N|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.K2081N|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000455774.1_RNA O95425 SVIL_HUMAN supervillin 2081 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CCATCGCACTCTTCCGGTCGG 0.602000 6 17 3.59834e-05 3.8065e-05 0.001168 1 0 PCDHB2 56133 broad.mit.edu 37 5 140475929 140475929 + Missense_Mutation SNP C C A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:140475929C>A ENST00000194155.4 + 1 1703 c.1555C>A c.(1555-1557)Cag>Aag p.Q519K NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 519 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCGCTCTCCAGTCGCTGGA 0.716000 4 119 0.000602214 0.000635303 0.000602 1 0 TMEM63C 57156 broad.mit.edu 37 14 77706871 77706871 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr14:77706871C>T ENST00000298351.4 + 13 1128 c.984C>T c.(982-984)ttC>ttT p.F328F NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 328 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CGGACGAGTTCAACGCCGAGC 0.637000 7 11 0 0 0.001984 0 0 IQSEC1 9922 broad.mit.edu 37 3 12949940 12949940 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:12949940C>T ENST00000273221.4 - 12 2922 c.2706G>A c.(2704-2706)ctG>ctA p.L902L NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 902 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGGCCCGGCTCAGTGTTCCGT 0.647000 24 30 0 0 0.014323 0 0 ARID2 196528 broad.mit.edu 37 12 46211536 46211536 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:46211536G>A ENST00000334344.6 + 5 674 c.502G>A c.(502-504)Gga>Aga p.G168R ARID2_ENST00000422737.1_Missense_Mutation_p.G19R NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 168 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ACTGTTATCTGGACTCCCAAA 0.358000 """N, S, F""" hepatocellular carcinoma 13 37 0 0 0.001855 0 0 SNX19 399979 broad.mit.edu 37 11 130784459 130784459 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:130784459C>T ENST00000265909.4 - 1 1945 c.1376G>A c.(1375-1377)gGa>gAa p.G459E SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.G459E|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron NM_014758.2 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 459 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) GGTAACATCTCCTTGTTCTAT 0.537000 20 45 0 0 0.008871 0 0 SENP5 205564 broad.mit.edu 37 3 196650364 196650364 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:196650364C>G ENST00000323460.5 + 7 2213 c.1964C>G c.(1963-1965)tCt>tGt p.S655C SENP5_ENST00000419026.1_Missense_Mutation_p.S145C|SENP5_ENST00000445299.2_Intron NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 655 Protease. cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) GTGACACTCTCTAATCGAATT 0.318000 26 63 0 0 0.003330 0 0 CDRT1 374286 broad.mit.edu 37 17 15522516 15522516 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:15522516G>A ENST00000395906.3 - 1 310 c.311C>T c.(310-312)tCc>tTc p.S104F RP11-385D13.1_ENST00000455584.2_Intron NM_006382.3 NP_006373.2 O95170 CDRT1_HUMAN CMT1A duplicated region transcript 1 104 endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) GTTCAAGGAGGACTTCACAAC 0.428000 47 57 0 0 0.014410 0 0 INTS8 55656 broad.mit.edu 37 8 95888689 95888689 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr8:95888689G>C ENST00000523731.1 + 26 2976 c.2843G>C c.(2842-2844)aGa>aCa p.R948T INTS8_ENST00000447247.1_Missense_Mutation_p.R931T NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 948 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) CATCATAAAAGAGGAGAAACA 0.289000 7 16 0 0 0.003080 0 0 TTC40 54777 broad.mit.edu 37 10 134623964 134623964 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:134623964C>T ENST00000368586.5 - 57 7713 c.7613G>A c.(7612-7614)aGa>aAa p.R2538K TTC40_ENST00000263170.5_Missense_Mutation_p.R699K NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 699 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CGCACTGTTTCTCCAATTGGC 0.627000 29 58 0 0 0.008361 0 0 MIR1179 100302235 broad.mit.edu 37 15 89151351 89151351 + RNA SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr15:89151351G>A ENST00000408703.1 + 0 14 NR_031590.1 TGGAAAGGAAGAAGCATTCTT 0.378000 6 141 0 0 0.001984 0 0 POLR1A 25885 broad.mit.edu 37 2 86266519 86266519 + Silent SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr2:86266519G>C ENST00000263857.6 - 26 4185 c.3807C>G c.(3805-3807)ctC>ctG p.L1269L POLR1A_ENST00000409681.1_Silent_p.L1269L O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 1269 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 TCTTGGTGTTGAGCACGGGCA 0.542000 70 182 0 0 0.014410 0 0 MLH1 4292 broad.mit.edu 37 3 37042445 37042445 + Splice_Site SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:37042445G>A ENST00000231790.2 + 3 423 c.e3-1 MLH1_ENST00000458205.2_Splice_Site|MLH1_ENST00000435176.1_Splice_Site|MLH1_ENST00000536378.1_Splice_Site|MLH1_ENST00000492474.1_Splice_Site|MLH1_ENST00000455445.2_Splice_Site|MLH1_ENST00000539477.1_Splice_Site NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 GTATCTAACAGAAAGAAGATC 0.338000 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 8 26 0 0 0.004482 0 0 MFAP5 8076 broad.mit.edu 37 12 8802152 8802152 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:8802152G>C ENST00000359478.2 - 9 541 c.354C>G c.(352-354)atC>atG p.I118M MFAP5_ENST00000433590.2_Missense_Mutation_p.I93M|MFAP5_ENST00000396549.2_Missense_Mutation_p.I108M|MFAP5_ENST00000540087.1_Missense_Mutation_p.I108M|MFAP5_ENST00000543369.1_Missense_Mutation_p.I96M|MFAP5_ENST00000535336.1_Intron NM_003480.2 NP_003471.1 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 118 microfibril extracellular matrix structural constituent breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1) 13 Lung SC(5;0.184) CCTTGTTGACGATGTACATAC 0.468000 3 52 0 0 0.004672 0 0 ITGB1 3688 broad.mit.edu 37 10 33218789 33218789 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:33218789G>C ENST00000396033.2 - 4 472 c.337C>G c.(337-339)Cag>Gag p.Q113E ITGB1_ENST00000374956.4_Missense_Mutation_p.Q113E|ITGB1_ENST00000302278.3_Missense_Mutation_p.Q113E|ITGB1_ENST00000423113.1_Missense_Mutation_p.Q113E|ITGB1_ENST00000484088.1_5'UTR NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 113 axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) GGTTGGATCTGAGTAATATCC 0.423000 65 148 0 0 0.014410 0 0 NUP155 9631 broad.mit.edu 37 5 37294435 37294435 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:37294435G>A ENST00000231498.3 - 33 4129 c.3926C>T c.(3925-3927)tCa>tTa p.S1309L NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.S1250L|NUP155_ENST00000513532.1_Missense_Mutation_p.S1245L NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1309 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCTTACCCGTGATTTGAACAA 0.303000 4 8 0 0 0.009096 0 0 MAP3K11 4296 broad.mit.edu 37 11 65375760 65375760 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:65375760G>A ENST00000309100.3 - 2 1384 c.899C>T c.(898-900)tCt>tTt p.S300F MAP3K11_ENST00000530153.1_Missense_Mutation_p.S43F NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 300 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 ACTGCCCTTAGAGAAGGTGGA 0.632000 9 19 0 0 0.004482 0 0 EYA1 2138 broad.mit.edu 37 8 72128960 72128960 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr8:72128960C>G ENST00000340726.3 - 14 1966 c.1327G>C c.(1327-1329)Gag>Cag p.E443Q EYA1_ENST00000303824.7_Missense_Mutation_p.E437Q|EYA1_ENST00000419131.1_Missense_Mutation_p.E408Q|EYA1_ENST00000388743.2_Missense_Mutation_p.E442Q|EYA1_ENST00000388742.4_Missense_Mutation_p.E443Q|EYA1_ENST00000388740.3_Missense_Mutation_p.E410Q|EYA1_ENST00000388741.2_Missense_Mutation_p.E409Q NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 443 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TTGTAGATCTCTTTTACCCGT 0.463000 28 59 0 0 0.010818 0 0 SVIL 6840 broad.mit.edu 37 10 29752505 29752505 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:29752505C>T ENST00000375398.2 - 37 6642 c.6193G>A c.(6193-6195)Gag>Aag p.E2065K SVIL_ENST00000535393.1_Missense_Mutation_p.E979K|SVIL_ENST00000375400.3_Missense_Mutation_p.E1639K|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.E2065K|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000455774.1_RNA O95425 SVIL_HUMAN supervillin 2065 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) ATCTTGTTCTCGATGGGCCAC 0.587000 13 22 0 0 0.013537 0 0 ZNF845 91664 broad.mit.edu 37 19 53855148 53855148 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:53855148G>C ENST00000458035.1 + 4 1337 c.1220G>C c.(1219-1221)gGa>gCa p.G407A ZNF845_ENST00000595091.1_Missense_Mutation_p.G407A NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 407 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 CTTCATACTGGAGAGAAACCT 0.413000 35 104 0 0 0.012213 0 0 NDUFV1 4723 broad.mit.edu 37 11 67378957 67378957 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:67378957G>A ENST00000322776.6 + 7 1150 c.997G>A c.(997-999)Gag>Aag p.E333K NDUFV1_ENST00000526169.1_Intron|NDUFV1_ENST00000532303.1_Missense_Mutation_p.E232K|NDUFV1_ENST00000415352.2_Missense_Mutation_p.E326K|NDUFV1_ENST00000529927.1_Missense_Mutation_p.E324K NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 333 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) GTCTGTGTGTGAGACGGTGCT 0.642000 8 15 0 0 0.006214 0 0 KATNB1 10300 broad.mit.edu 37 16 57775676 57775676 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr16:57775676G>A ENST00000379661.3 + 3 510 c.118G>A c.(118-120)Ggg>Agg p.G40R NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 40 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) GGCTACAGGCGGGGATGACTG 0.642000 13 13 0 0 0.002450 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133661493 133661493 + Silent SNP C C G rs145832999 byFrequency TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:133661493C>G ENST00000310926.4 - 11 1854 c.1581G>C c.(1579-1581)ctG>ctC p.L527L SLCO2A1_ENST00000493729.1_Silent_p.L451L NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 527 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 TGCAGGCTATCAGGGACACGA 0.602000 14 23 0 0 0.004990 0 0 FCN1 2219 broad.mit.edu 37 9 137804865 137804865 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr9:137804865C>G ENST00000371806.3 - 6 556 c.465G>C c.(463-465)tgG>tgC p.W155C NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 155 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) CACTCACGGTCCAGCCCCCTC 0.637000 6 5 0 0 0.001168 0 0 MDN1 23195 broad.mit.edu 37 6 90374320 90374320 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:90374320C>G ENST00000369393.3 - 85 14237 c.14122G>C c.(14122-14124)Gaa>Caa p.E4708Q MDN1_ENST00000428876.1_Missense_Mutation_p.E4708Q Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4708 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTGTCTTTTTCTTGACCCTTC 0.353000 15 47 0 0 0.004007 0 0 TCHH 7062 broad.mit.edu 37 1 152080535 152080535 + Missense_Mutation SNP C C G rs71585886 TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:152080535C>G ENST00000368804.1 - 2 5157 c.5158G>C c.(5158-5160)Gaa>Caa p.E1720Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1720 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCCAGTTCCTGGCGGCGC 0.552000 32 69 0 0 0.010818 0 0 FLI1 2313 broad.mit.edu 37 11 128638117 128638117 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:128638117C>T ENST00000527786.2 + 3 824 c.335C>T c.(334-336)cCc>cTc p.P112L FLI1_ENST00000281428.8_Missense_Mutation_p.P46L|FLI1_ENST00000534087.2_Missense_Mutation_p.P79L|FLI1_ENST00000344954.6_Missense_Mutation_p.P79L|FLI1_ENST00000525560.1_Intron NM_001271010.1|NM_002017.4 NP_001257939.1|NP_002008.2 Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor PNT. hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) AAGAATGGCCCCCCTCCTCCC 0.582000 T EWSR1 Ewing sarcoma 7 11 0 0 0.003080 0 0 TRIAP1 51499 broad.mit.edu 37 12 120884103 120884103 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:120884103C>T ENST00000546954.1 - 1 112 c.73G>A c.(73-75)Gag>Aag p.E25K TRIAP1_ENST00000302432.3_5'UTR|AL021546.6_ENST00000551806.1_Intron NM_016399.2 NP_057483.1 O43715 TRIA1_HUMAN TP53 regulated inhibitor of apoptosis 1 25 anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest mitochondrion|perinuclear region of cytoplasm caspase inhibitor activity|protein binding all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGAAATTTCTCGGCGAACCAG 0.627000 26 40 0 0 0.003330 0 0 MIR99AHG 388815 broad.mit.edu 37 21 17443667 17443667 + RNA SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr21:17443667C>T ENST00000458468.1 + 0 261 NR_027790.1 AGCAGCCAATCCGGCCATGCT 0.478000 18 13 0 0 0.004990 0 0 UNC13B 10497 broad.mit.edu 37 9 35310672 35310672 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr9:35310672G>C ENST00000378495.3 + 9 1192 c.970G>C c.(970-972)Gag>Cag p.E324Q UNC13B_ENST00000378496.4_Missense_Mutation_p.E324Q|UNC13B_ENST00000396787.1_Missense_Mutation_p.E336Q NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 324 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) AGGTCAAGCAGAGAAGGAGGC 0.532000 26 27 0 0 0.004656 0 0 OR52D1 390066 broad.mit.edu 37 11 5510080 5510080 + Silent SNP C C A rs138095953 by1000genomes TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:5510080C>A ENST00000322641.5 + 1 166 c.144C>A c.(142-144)ctC>ctA p.L48L AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGCTGCCCTCATCCTGGTCA 0.522000 22 27 2.89027e-11 3.21699e-11 0.014323 1 0 RFC5 5985 broad.mit.edu 37 12 118463596 118463596 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:118463596C>G ENST00000392542.2 + 8 1096 c.563C>G c.(562-564)tCc>tGc p.S188C RFC5_ENST00000229043.3_Missense_Mutation_p.S124C|RFC5_ENST00000454402.2_Missense_Mutation_p.S209C NM_181578.3 NP_853556.2 P40937 RFC5_HUMAN replication factor C (activator 1) 5, 36.5kDa 209 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTCACTCTTTCCAGTGGAGAC 0.418000 19 88 0 0 0.014323 0 0 PRKAR1A 5573 broad.mit.edu 37 17 66526542 66526542 + Silent SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:66526542C>G ENST00000589228.1 + 11 1226 c.1098C>G c.(1096-1098)ctC>ctG p.L366L PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000392711.1_Silent_p.L366L|PRKAR1A_ENST00000358598.2_Silent_p.L366L|PRKAR1A_ENST00000536854.2_Silent_p.L366L|PRKAR1A_ENST00000586397.1_Silent_p.L366L NM_001276289.1|NM_001278433.1 NP_001263218.1|NP_001265362.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha 366 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) CAGACATCCTCAAACGAAACA 0.517000 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 26 102 0 0 0.003954 0 0 HSPH1 10808 broad.mit.edu 37 13 31727035 31727035 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr13:31727035C>G ENST00000320027.5 - 5 827 c.483G>C c.(481-483)caG>caC p.Q161H HSPH1_ENST00000380406.5_Missense_Mutation_p.Q120H|HSPH1_ENST00000380405.4_Missense_Mutation_p.Q161H|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000445273.2_Missense_Mutation_p.Q163H NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 161 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCCAACAATCTGTGCAGCAT 0.363000 73 182 0 0 0.014410 0 0 NPR3 4883 broad.mit.edu 37 5 32712443 32712443 + Missense_Mutation SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:32712443G>T ENST00000265074.8 + 1 904 c.561G>T c.(559-561)atG>atT p.M187I NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.M187I NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 187 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) TGGGCGAGATGATGCTCGCCC 0.667000 19 44 7.45023e-12 8.31653e-12 0.010504 1 0 NDE1 54820 broad.mit.edu 37 16 15785075 15785075 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr16:15785075G>A ENST00000396355.1 + 7 1424 c.598G>A c.(598-600)Gag>Aag p.E200K NDE1_ENST00000396353.2_Missense_Mutation_p.E200K|NDE1_ENST00000342673.5_Missense_Mutation_p.E200K|NDE1_ENST00000396354.1_Missense_Mutation_p.E200K NM_001143979.1 NP_001137451.1 Q9NXR1 NDE1_HUMAN nudE neurodevelopment protein 1 200 Interaction with CENPF (By similarity). cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome microtubule binding endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 AGTGGAAGCTGAGAGGACAGA 0.587000 13 33 0 0 0.001855 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499919 59499919 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr15:59499919G>A ENST00000307144.4 + 1 878 c.780G>A c.(778-780)ttG>ttA p.L260L MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 260 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) GTGTCCCTTTGAAGGATCTGA 0.433000 15 33 0 0 0.002450 0 0 NKX2-1 7080 broad.mit.edu 37 14 36988528 36988528 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr14:36988528G>A ENST00000518149.1 - 2 640 c.35C>T c.(34-36)tCa>tTa p.S12L NKX2-1_ENST00000354822.5_Missense_Mutation_p.S42L|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.S12L|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000522719.2_Missense_Mutation_p.S12L P43699 NKX21_HUMAN NK2 homeobox 1 12 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) GTCAGACACTGAGAACGGAGT 0.612000 A NSCLC 7 2 0 0 0.003080 0 0 BMP10 27302 broad.mit.edu 37 2 69093615 69093615 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr2:69093615G>A ENST00000295379.1 - 2 581 c.423C>T c.(421-423)atC>atT p.I141I NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 141 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 GTTCAGCCATGATGACCTCTT 0.443000 15 31 0 0 0.004007 0 0 NUDT7 283927 broad.mit.edu 37 16 77775671 77775671 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr16:77775671G>C ENST00000268533.5 + 4 610 c.541G>C c.(541-543)Gaa>Caa p.E181Q NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.E128Q|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564085.1_3'UTR NM_001105663.2 NP_001099133.1 P0C024 NUDT7_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 7 181 E -> G (in dbSNP:rs16946429). nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1) 18 CACAAACCCTGAAGACGGTGT 0.448000 21 42 0 0 0.008871 0 0 APLP1 333 broad.mit.edu 37 19 36370101 36370101 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:36370101C>G ENST00000221891.4 + 16 2031 c.1839C>G c.(1837-1839)atC>atG p.I613M APLP1_ENST00000537454.2_Missense_Mutation_p.I573M|APLP1_ENST00000586861.1_Missense_Mutation_p.I606M NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 612 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACGGGGCTATCAGCCATGGCG 0.652000 17 41 0 0 0.004990 0 0 PET112 5188 broad.mit.edu 37 4 152625030 152625030 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:152625030C>G ENST00000263985.6 - 8 1020 c.980G>C c.(979-981)aGa>aCa p.R327T PET112_ENST00000512306.1_Missense_Mutation_p.R327T|PET112_ENST00000515812.1_Missense_Mutation_p.R286T NM_004564.2 NP_004555.1 O75879 GATB_HUMAN PET112 homolog (yeast) 327 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 23 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTCTTTGTCTCTCATTGACAT 0.428000 29 49 0 0 0.003755 0 0 SNX19 399979 broad.mit.edu 37 11 130784943 130784943 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:130784943C>G ENST00000265909.4 - 1 1461 c.892G>C c.(892-894)Gag>Cag p.E298Q SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E298Q|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000539184.1_Intron NM_014758.2 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 298 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) GGAAGCTGCTCTACCTCAGCA 0.577000 23 65 0 0 0.002780 0 0 KIZ-AS1 101929591 broad.mit.edu 37 20 21195243 21195243 + RNA SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr20:21195243C>T ENST00000591761.1 - 0 119 PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000443753.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA AGTAGTGAATCATCTTGCAGC 0.418000 4 20 0 0 0.009096 0 0 MPP6 51678 broad.mit.edu 37 7 24690309 24690309 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr7:24690309G>C ENST00000222644.5 + 5 879 c.629G>C c.(628-630)aGa>aCa p.R210T MPP6_ENST00000409761.1_Missense_Mutation_p.R98T|MPP6_ENST00000396475.2_Missense_Mutation_p.R210T Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 CCAAGTTATAGAGATACCATT 0.308000 18 23 0 0 0.006122 0 0 ABCA7 10347 broad.mit.edu 37 19 1062220 1062220 + Nonsense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:1062220C>T ENST00000263094.6 + 42 5851 c.5620C>T c.(5620-5622)Caa>Taa p.Q1874* ABCA7_ENST00000435683.2_Nonsense_Mutation_p.Q1736*|ABCA7_ENST00000433129.1_Nonsense_Mutation_p.Q1874* NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1874 ABC transporter 2. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATACTGCCCTCAATCCGATGC 0.687000 56 151 0 0 0.014410 0 0 ACTR1A 10121 broad.mit.edu 37 10 104241854 104241854 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:104241854C>T ENST00000369905.4 - 8 892 c.829G>A c.(829-831)Gag>Aag p.E277K ACTR1A_ENST00000545684.1_Missense_Mutation_p.E203K|ACTR1A_ENST00000446605.2_Missense_Mutation_p.E230K|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000487599.1_Missense_Mutation_p.E277K NM_005736.3 NP_005727.1 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) 277 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 13 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) ACCAGGACCTCGTGGATGCCT 0.552000 36 107 0 0 0.007835 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308510 140308510 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:140308510C>T ENST00000253807.2 + 1 2033 c.2033C>T c.(2032-2034)tCt>tTt p.S678F PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S678F|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCAGCTTTCTGCCCAGAAC 0.473000 40 61 0 0 0.008740 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1817296 1817296 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr16:1817296G>C ENST00000250894.4 + 26 3389 c.3232G>C c.(3232-3234)Gag>Cag p.E1078Q MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E1072Q NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 1078 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 CATGCAGATAGAGGCGAGTGC 0.642000 13 34 0 0 0.001855 0 0 USP20 10868 broad.mit.edu 37 9 132642525 132642525 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr9:132642525G>A ENST00000315480.4 + 25 2876 c.2718G>A c.(2716-2718)aaG>aaA p.K906K USP20_ENST00000358355.1_Silent_p.K906K|USP20_ENST00000472108.1_3'UTR|USP20_ENST00000372429.3_Silent_p.K906K Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 906 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) GGGAGCAGAAGATCGAAGCCG 0.647000 8 6 0 0 0.003080 0 0 GRIP1 23426 broad.mit.edu 37 12 66788018 66788018 + Nonsense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:66788018G>C ENST00000359742.4 - 17 2339 c.2099C>G c.(2098-2100)tCa>tGa p.S700* GRIP1_ENST00000398016.3_Nonsense_Mutation_p.S648*|GRIP1_ENST00000286445.7_Nonsense_Mutation_p.S700* Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 700 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) AGTGAGGCTTGAAATGATTAT 0.438000 48 82 0 0 0.014410 0 0 MUC17 140453 broad.mit.edu 37 7 100679285 100679285 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr7:100679285G>A ENST00000306151.4 + 3 4652 c.4588G>A c.(4588-4590)Gaa>Aaa p.E1530K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1530 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) GGCCAGTTCTGAAATCAACAG 0.483000 7 458 0 0 0.001984 0 0 NQO2 4835 broad.mit.edu 37 6 3010384 3010384 + Missense_Mutation SNP A A G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:3010384A>G ENST00000338130.2 + 6 845 c.133A>G c.(133-135)Atg>Gtg p.M45V NQO2_ENST00000380455.4_Missense_Mutation_p.M45V|NQO2_ENST00000380454.4_Missense_Mutation_p.M45V|NQO2_ENST00000606474.1_3'UTR|NQO2_ENST00000380441.1_Missense_Mutation_p.M45V|NQO2_ENST00000380430.1_Missense_Mutation_p.M45V P16083 NQO2_HUMAN NAD(P)H dehydrogenase, quinone 2 45 cytoplasm|nucleus coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(93;0.0412) all_hematologic(90;0.0895) Menadione(DB00170)|NADH(DB00157) TTTGTATGCCATGAACCTTGA 0.428000 8 26 0 0 0.003080 0 0 FLNC 2318 broad.mit.edu 37 7 128491402 128491402 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr7:128491402G>A ENST00000325888.8 + 34 5917 c.5656G>A c.(5656-5658)Gat>Aat p.D1886N RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.D1853N NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1886 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGTCACCAAAGATGCTGGAGA 0.602000 9 45 0 0 0.006214 0 0 MB21D2 151963 broad.mit.edu 37 3 192635536 192635536 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:192635536G>A ENST00000392452.2 - 1 414 c.94C>T c.(94-96)Cgg>Tgg p.R32W NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 32 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 TCCTCCACCCGAGCTCCCGAC 0.552000 18 41 0 0 0.006122 0 0 CATSPERD 257062 broad.mit.edu 37 19 5778417 5778417 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:5778417C>G ENST00000381624.3 + 22 2188 c.2127C>G c.(2125-2127)atC>atG p.I709M CATSPERD_ENST00000309164.7_3'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 709 integral to membrane TCTTTAGCATCTACGTGTATG 0.572000 13 49 0 0 0.001855 0 0 NDUFV1 4723 broad.mit.edu 37 11 67378666 67378666 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:67378666G>A ENST00000322776.6 + 6 1054 c.901G>A c.(901-903)Gag>Aag p.E301K NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000532303.1_Missense_Mutation_p.E200K|NDUFV1_ENST00000415352.2_Missense_Mutation_p.E294K|NDUFV1_ENST00000529927.1_Missense_Mutation_p.E292K NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 301 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) AGAACTGATTGAGAAGCATGC 0.587000 14 35 0 0 0.002450 0 0 CAMK1G 57172 broad.mit.edu 37 1 209782353 209782353 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:209782353G>A ENST00000009105.1 + 8 909 c.664G>A c.(664-666)Gaa>Aaa p.E222K CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Missense_Mutation_p.E222K Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 222 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) ATTCTATGAAGAAACGGAGTC 0.517000 24 60 0 0 0.003330 0 0 RHD 6007 broad.mit.edu 37 1 25599156 25599156 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:25599156G>A ENST00000328664.4 + 1 273 c.118G>A c.(118-120)Gat>Aat p.D40N RHD_ENST00000568195.1_Missense_Mutation_p.D40N|RHD_ENST00000342055.5_Missense_Mutation_p.D40N|RHD_ENST00000423810.2_Missense_Mutation_p.D40N|RHD_ENST00000357542.4_Missense_Mutation_p.D40N|RHD_ENST00000417538.2_Missense_Mutation_p.D40N|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.D40N NM_001282867.1|NM_016124.3 NP_001269796.1|NP_057208 Q02161 RHD_HUMAN Rh blood group, D antigen 40 integral to plasma membrane breast(2)|large_intestine(4)|lung(7)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TTCCTTAGAGGATCAAAAGGG 0.557000 29 73 0 0 0.009535 0 0 CLVS2 134829 broad.mit.edu 37 6 123332160 123332160 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:123332160C>G ENST00000275162.5 + 3 1755 c.420C>G c.(418-420)atC>atG p.I140M CLVS2_ENST00000368438.1_5'UTR NM_001010852.3 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 TGCGTGCCATCTTACTTTCTT 0.378000 21 75 0 0 0.012319 0 0 TANC2 26115 broad.mit.edu 37 17 61278301 61278301 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:61278301G>C ENST00000424789.2 + 5 534 c.530G>C c.(529-531)aGa>aCa p.R177T TANC2_ENST00000389520.4_Missense_Mutation_p.R177T|AC037445.1_ENST00000581421.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 177 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CTTGAAAGCAGAGATAGTGGC 0.388000 19 63 0 0 0.007413 0 0 NSMAF 8439 broad.mit.edu 37 8 59548076 59548076 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr8:59548076G>A ENST00000038176.3 - 3 391 c.179C>T c.(178-180)tCa>tTa p.S60L NSMAF_ENST00000427130.2_Missense_Mutation_p.S91L NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 60 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) CACCGATTTTGAACATATTTT 0.313000 6 108 0 0 0.001984 0 0 ZMYND11 10771 broad.mit.edu 37 10 292745 292745 + Silent SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:292745C>G ENST00000397962.3 + 11 1418 c.990C>G c.(988-990)gtC>gtG p.V330V ZMYND11_ENST00000381591.1_Silent_p.V330V|ZMYND11_ENST00000381584.1_Silent_p.V313V|ZMYND11_ENST00000535374.1_Silent_p.V125V|ZMYND11_ENST00000381604.4_Silent_p.V290V|ZMYND11_ENST00000381607.4_Silent_p.V236V|ZMYND11_ENST00000509513.2_Silent_p.V329V|ZMYND11_ENST00000397959.3_Silent_p.V245V|ZMYND11_ENST00000402736.1_Silent_p.V299V|ZMYND11_ENST00000381602.4_Silent_p.V290V|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000403354.1_Silent_p.V250V|ZMYND11_ENST00000602682.1_Silent_p.V245V|ZMYND11_ENST00000558098.2_Silent_p.V330V|ZMYND11_ENST00000545619.1_Silent_p.V210V|ZMYND11_ENST00000309776.4_Silent_p.V290V Q15326 ZMY11_HUMAN zinc finger, MYND-type containing 11 290 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 24 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) ATATCACAGTCAACATTCATC 0.453000 4 25 0 0 0.000602 0 0 ZFP69B 65243 broad.mit.edu 37 1 40928688 40928688 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:40928688C>T ENST00000411995.2 + 6 1407 c.1032C>T c.(1030-1032)ttC>ttT p.F344F ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Silent_p.F242F NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B GGAAAACCTTCAGACATCCTT 0.428000 14 28 0 0 0.002450 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68150714 68150714 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr8:68150714G>A ENST00000262215.3 - 22 3542 c.3153C>T c.(3151-3153)atC>atT p.I1051I ARFGEF1_ENST00000518230.1_5'UTR|ARFGEF1_ENST00000520381.1_Silent_p.I505I NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1051 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CCAACTGACTGATGCACTTCA 0.363000 18 33 0 0 0.006122 0 0 NRSN1 140767 broad.mit.edu 37 6 24134710 24134710 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:24134710G>C ENST00000378491.4 + 3 456 c.155G>C c.(154-156)aGa>aCa p.R52T NRSN1_ENST00000378478.1_Missense_Mutation_p.R52T|NRSN1_ENST00000378475.1_Missense_Mutation_p.R52T NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 52 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 CAGATCCAAAGATCACCTAAC 0.453000 3 57 0 0 0.009096 0 0 UBTF 7343 broad.mit.edu 37 17 42294012 42294012 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:42294012G>C ENST00000302904.4 - 3 611 c.119C>G c.(118-120)tCc>tGc p.S40C UBTF_ENST00000436088.1_Missense_Mutation_p.S40C|UBTF_ENST00000529383.1_Missense_Mutation_p.S40C|UBTF_ENST00000393606.3_Missense_Mutation_p.S40C|UBTF_ENST00000343638.5_Missense_Mutation_p.S40C|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000526094.1_Missense_Mutation_p.S40C|UBTF_ENST00000533177.1_Missense_Mutation_p.S40C|UBTF_ENST00000527034.1_Missense_Mutation_p.S40C P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 40 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) GCTGTCATTGGATGGAAGGTT 0.468000 55 164 0 0 0.014410 0 0 MED24 9862 broad.mit.edu 37 17 38179630 38179630 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:38179630C>T ENST00000394126.1 - 19 2497 c.2079G>A c.(2077-2079)tcG>tcA p.S693S MED24_ENST00000356271.3_Silent_p.S655S|MED24_ENST00000394128.2_Silent_p.S668S|MED24_ENST00000501516.3_Silent_p.S687S|MED24_ENST00000394127.2_Silent_p.S655S O75448 MED24_HUMAN mediator complex subunit 24 668 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) GCTCCAGGATCGAGTTCATGA 0.617000 5 53 0 0 0.001168 0 0 CCNG2 901 broad.mit.edu 37 4 78081929 78081929 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:78081929G>C ENST00000316355.5 + 4 688 c.332G>C c.(331-333)aGa>aCa p.R111T CCNG2_ENST00000502280.1_Missense_Mutation_p.R111T|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Missense_Mutation_p.R111T|CCNG2_ENST00000354403.5_Missense_Mutation_p.R111T|CCNG2_ENST00000509972.1_Missense_Mutation_p.R111T NM_004354.2 NP_004345.1 Q16589 CCNG2_HUMAN cyclin G2 111 cell cycle checkpoint|cell division|mitosis cytoplasm breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 CTGGCTGCTAGAATAGTTGAA 0.373000 34 110 0 0 0.013726 0 0 GABRD 2563 broad.mit.edu 37 1 1961619 1961619 + Silent SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:1961619C>G ENST00000378585.4 + 9 1340 c.1257C>G c.(1255-1257)ctC>ctG p.L419L NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid (GABA) A receptor, delta 419 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GTGCCCGGCTCAGGCCCATCG 0.652000 23 66 0 0 0.014323 0 0 TEAD3 7005 broad.mit.edu 37 6 35454317 35454317 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:35454317C>G ENST00000338863.7 - 2 350 c.123G>C c.(121-123)caG>caC p.Q41H TEAD3_ENST00000402886.3_Missense_Mutation_p.R24T NM_003214.3 NP_003205 Q99594 TEAD3_HUMAN TEA domain family member 3 41 female pregnancy|hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 10 CCTGGAAGCTCTGCTCGATGT 0.716000 14 34 0 0 0.002450 0 0 MYH9 4627 broad.mit.edu 37 22 36691013 36691013 + Nonsense_Mutation SNP C C A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr22:36691013C>A ENST00000216181.5 - 27 3825 c.3595G>T c.(3595-3597)Gag>Tag p.E1199* NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1199 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCCAGCTCCTCCACGGCCTGT 0.652000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 46 119 3.77016e-25 4.29597e-25 0.013114 1 0 CCDC88B 283234 broad.mit.edu 37 11 64112210 64112210 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:64112210G>C ENST00000356786.5 + 14 2241 c.2197G>C c.(2197-2199)Gag>Cag p.E733Q CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 733 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCTCAGGGAGGAGGTGGCACA 0.647000 8 18 0 0 0.010729 0 0 ANP32A 8125 broad.mit.edu 37 15 69080163 69080163 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr15:69080163G>C ENST00000465139.2 - 2 293 c.150C>G c.(148-150)atC>atG p.I50M ANP32A_ENST00000560303.1_Missense_Mutation_p.I50M|ANP32A_ENST00000483551.2_5'UTR NM_006305.3 NP_006296.1 P39687 AN32A_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member A 50 intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm protein binding endometrium(1)|large_intestine(1)|lung(2) 4 GGCCTACGTTGATTGTACTTA 0.458000 42 99 0 0 0.007835 0 0 FANCD2 2177 broad.mit.edu 37 3 10089677 10089677 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:10089677C>T ENST00000287647.3 + 16 1448 c.1355C>T c.(1354-1356)tCa>tTa p.S452L FANCD2_ENST00000383806.1_Missense_Mutation_p.S452L|FANCD2_ENST00000383807.1_Missense_Mutation_p.S452L|FANCD2_ENST00000419585.1_Missense_Mutation_p.S452L NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 452 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) AGTATAATTTCATTTGGCAGT 0.403000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 38 97 0 0 0.003755 0 0 MAP1B 4131 broad.mit.edu 37 5 71490800 71490800 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:71490800G>A ENST00000296755.7 + 5 1916 c.1618G>A c.(1618-1620)Gat>Aat p.D540N NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 540 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) ACAGAGGGCTGATAGCCGAGA 0.498000 11 17 0 0 0.008291 0 0 ST3GAL6 10402 broad.mit.edu 37 3 98489773 98489773 + Nonsense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr3:98489773C>G ENST00000394162.1 + 4 607 c.140C>G c.(139-141)tCa>tGa p.S47* ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000483910.1_Nonsense_Mutation_p.S47*|ST3GAL6_ENST00000468553.1_Nonsense_Mutation_p.S47*|ST3GAL6_ENST00000265261.6_5'UTR NM_001271145.1|NM_006100.3 NP_001258074.1|NP_006091.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 47 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 CCTTGTTTATCAAAGCCAGCT 0.408000 21 48 0 0 0.010504 0 0 MARS2 92935 broad.mit.edu 37 2 198570227 198570227 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr2:198570227C>T ENST00000282276.6 + 1 141 c.98C>T c.(97-99)tCc>tTc p.S33F AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 33 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) AGTTCGGGCTCCCTCAGTGCC 0.622000 10 28 0 0 0.013537 0 0 CCDC88B 283234 broad.mit.edu 37 11 64112132 64112132 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:64112132G>C ENST00000356786.5 + 14 2163 c.2119G>C c.(2119-2121)Gag>Cag p.E707Q CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 707 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AGGGGCTCTTGAGGTCCAGGT 0.622000 7 13 0 0 0.003080 0 0 EYA4 2070 broad.mit.edu 37 6 133802638 133802638 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:133802638C>G ENST00000367895.5 + 12 1472 c.1008C>G c.(1006-1008)atC>atG p.I336M EYA4_ENST00000355286.6_Missense_Mutation_p.I313M|EYA4_ENST00000431403.2_Missense_Mutation_p.I336M|EYA4_ENST00000430974.2_Missense_Mutation_p.I288M|EYA4_ENST00000452339.2_Missense_Mutation_p.I282M|EYA4_ENST00000525849.1_Missense_Mutation_p.I313M|EYA4_ENST00000355167.3_Missense_Mutation_p.I336M|EYA4_ENST00000531901.1_Missense_Mutation_p.I342M NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 336 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CCACACCCATCAAAGATCTTG 0.458000 39 96 0 0 0.007835 0 0 DDRGK1 65992 broad.mit.edu 37 20 3183980 3183980 + Silent SNP C C T rs147853986 TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr20:3183980C>T ENST00000354488.3 - 2 231 c.174G>A c.(172-174)ccG>ccA p.P58P DDRGK1_ENST00000380201.2_Silent_p.P58P NM_023935.1 NP_076424.1 Q96HY6 DDRGK_HUMAN DDRGK domain containing 1 58 endoplasmic reticulum protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1) 7 CTCCAGCTCTCGGCTCCTCAG 0.697000 3 13 0 0 0.004672 0 0 LINC00674 100499466 broad.mit.edu 37 17 66110653 66110653 + RNA SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:66110653G>T ENST00000435469.2 + 0 207 CCTTGACTACGGAGGGGTTGC 0.393000 7 29 5.18039e-06 5.54114e-06 0.003080 1 0 KRT19 3880 broad.mit.edu 37 17 39681484 39681484 + Silent SNP C C T rs150617585 TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:39681484C>T ENST00000361566.3 - 2 522 c.462G>A c.(460-462)caG>caA p.Q154Q NM_002276.4 NP_002267.2 keratin 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Breast(137;0.00038) CATTGTCGATCTGCAGGACAA 0.567000 31 129 0 0 0.004289 0 0 PLXNA2 5362 broad.mit.edu 37 1 208390179 208390179 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:208390179G>C ENST00000367033.3 - 2 1846 c.1089C>G c.(1087-1089)atC>atG p.I363M NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 363 Sema. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) TCTGCAAGTTGATGGCCCGGA 0.607000 16 30 0 0 0.004007 0 0 AKAP6 9472 broad.mit.edu 37 14 33004931 33004931 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr14:33004931C>G ENST00000280979.4 + 3 666 c.496C>G c.(496-498)Ctg>Gtg p.L166V AKAP6_ENST00000557354.1_Missense_Mutation_p.L166V|AKAP6_ENST00000557272.1_Missense_Mutation_p.L166V NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 166 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GGAGCGCATTCTGCAAGGTCT 0.527000 19 31 0 0 0.007413 0 0 ZFP69B 65243 broad.mit.edu 37 1 40928940 40928940 + Missense_Mutation SNP C C A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:40928940C>A ENST00000411995.2 + 6 1659 c.1284C>A c.(1282-1284)ttC>ttA p.F428L ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.F326L NM_023070.2 NP_075558.2 ZFP69 zinc finger protein B GTAAAACCTTCAGCCATAGTA 0.378000 24 44 9.95505e-16 1.11776e-15 0.014323 1 0 SELO 83642 broad.mit.edu 37 22 50654297 50654297 + Splice_Site SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr22:50654297G>T ENST00000380903.2 + 6 1560 c.e6+1 SELO_ENST00000492092.1_Splice_Site NM_031454.1 NP_113642.1 Q9BVL4 SELO_HUMAN all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) TGGATCCCCGGTGGGTACTCA 0.582000 10 36 0.000673444 0.000706564 0.008291 1 0 PLCB4 5332 broad.mit.edu 37 20 9319664 9319664 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr20:9319664G>A ENST00000378501.2 + 4 364 c.349G>A c.(349-351)Gaa>Aaa p.E117K PLCB4_ENST00000414679.2_Missense_Mutation_p.E117K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E117K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.E117K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E117K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E117K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 117 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CATGGTGGCTGAAAATCCAGA 0.393000 18 32 0 0 0.006122 0 0 SUPT16H 11198 broad.mit.edu 37 14 21838582 21838582 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr14:21838582C>G ENST00000216297.2 - 4 734 c.396G>C c.(394-396)aaG>aaC p.K132N NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 132 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CTCCAATCTTCTTGCCATTCT 0.378000 43 53 0 0 0.007835 0 0 ZNF285 26974 broad.mit.edu 37 19 44891762 44891762 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:44891762C>T ENST00000330997.4 - 4 709 c.645G>A c.(643-645)atG>atA p.M215I CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.M222I|ZNF285_ENST00000544719.2_Missense_Mutation_p.M215I NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 CCGTTGATTTCATACCCAAGT 0.463000 30 85 0 0 0.007291 0 0 SVIL 6840 broad.mit.edu 37 10 29752497 29752497 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:29752497C>G ENST00000375398.2 - 37 6650 c.6201G>C c.(6199-6201)aaG>aaC p.K2067N SVIL_ENST00000535393.1_Missense_Mutation_p.K981N|SVIL_ENST00000375400.3_Missense_Mutation_p.K1641N|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.K2067N|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000455774.1_RNA O95425 SVIL_HUMAN supervillin 2067 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) AACCAGTGATCTTGTTCTCGA 0.592000 11 21 0 0 0.008291 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26032042 26032042 + Missense_Mutation SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:26032042G>T ENST00000244661.2 - 1 246 c.247C>A c.(247-249)Ctt>Att p.L83I NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 83 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 TGGAAGCGAAGATCGGTCTTG 0.577000 29 56 1.2476e-16 1.40905e-16 0.006320 1 0 CCDC180 100499483 broad.mit.edu 37 9 100080814 100080814 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr9:100080814G>C ENST00000375202.2 + 24 2513 c.1161G>C c.(1159-1161)aaG>aaC p.K387N CCDC180_ENST00000357054.1_Missense_Mutation_p.K526N|CCDC180_ENST00000411667.2_Missense_Mutation_p.K384N|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.K387N|CCDC180_ENST00000395220.1_Intron coiled-coil domain containing 180 TCATGCTGAAGACCCAGAACG 0.587000 13 16 0 0 0.001855 0 0 MIR1179 100302235 broad.mit.edu 37 15 89151343 89151343 + RNA SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr15:89151343G>T ENST00000408703.1 + 0 6 NR_031590.1 TTATTGGCTGGAAAGGAAGAA 0.373000 6 138 0.00198382 0.00207571 0.001984 1 0 UQCRFS1 7386 broad.mit.edu 37 19 29698512 29698512 + Silent SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:29698512G>C ENST00000304863.4 - 2 1190 c.768C>G c.(766-768)ctC>ctG p.L256L NM_006003.2 NP_005994.2 P47985 UCRI_HUMAN ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 256 Rieske. respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) CTTCAAGGTTGAGAGGAGCAG 0.463000 13 16 0 0 0.003163 0 0 NCOA1 8648 broad.mit.edu 37 2 24888754 24888754 + Nonsense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr2:24888754C>T ENST00000405141.1 + 7 937 c.226C>T c.(226-228)Cag>Tag p.Q76* NCOA1_ENST00000407230.1_Intron|NCOA1_ENST00000348332.3_Nonsense_Mutation_p.Q76*|NCOA1_ENST00000395856.3_Nonsense_Mutation_p.Q76*|NCOA1_ENST00000538539.1_Nonsense_Mutation_p.Q76*|NCOA1_ENST00000406961.1_Nonsense_Mutation_p.Q76*|NCOA1_ENST00000288599.5_Nonsense_Mutation_p.Q76* Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 76 Helix-loop-helix motif. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AACAGTCGATCAGATACAGCT 0.338000 T PAX3 alveolar rhadomyosarcoma 29 54 0 0 0.012213 0 0 PTPRB 5787 broad.mit.edu 37 12 70925883 70925883 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:70925883C>T ENST00000334414.6 - 32 6480 c.6436G>A c.(6436-6438)Gac>Aac p.D2146N RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1928N|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1838N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1838N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D2058N|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1838N NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1928 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCCACAGAGTCTTTGGAGTCT 0.473000 12 26 0 0 0.002450 0 0 PPP1R8 5511 broad.mit.edu 37 1 28165337 28165337 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:28165337G>C ENST00000311772.5 + 3 303 c.245G>C c.(244-246)aGa>aCa p.R82T PPP1R8_ENST00000236412.7_5'UTR|PPP1R8_ENST00000373931.4_5'UTR NM_014110.4 NP_054829.2 Q12972 PP1R8_HUMAN protein phosphatase 1, regulatory subunit 8 82 FHA.|Interaction with CDC5L, SF3B1 and MELK. mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent cytoplasm|nuclear speck|spliceosomal complex DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) CATCTGAAGAGAGTTTTCCTG 0.413000 23 34 0 0 0.003330 0 0 EMILIN3 90187 broad.mit.edu 37 20 39991162 39991162 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr20:39991162C>T ENST00000332312.3 - 4 1239 c.1047G>A c.(1045-1047)cgG>cgA p.R349R NM_052846.1 NP_443078.1 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 349 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) GGTGCAGCCTCCGGCTGGCGG 0.672000 3 17 0 0 0.004672 0 0 DEFB129 140881 broad.mit.edu 37 20 210144 210144 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr20:210144G>C ENST00000246105.4 + 2 315 c.284G>C c.(283-285)aGa>aCa p.R95T NM_080831.3 NP_543021.1 Q9H1M3 DB129_HUMAN defensin, beta 129 95 defense response to bacterium extracellular region endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1) 9 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) GTGATACAAAGAAAACATATT 0.368000 26 41 0 0 0.007291 0 0 SOS1 6654 broad.mit.edu 37 2 39283887 39283887 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr2:39283887C>G ENST00000426016.1 - 5 552 c.466G>C c.(466-468)Gaa>Caa p.E156Q SOS1_ENST00000428721.2_Missense_Mutation_p.E99Q|SOS1_ENST00000402219.2_Missense_Mutation_p.E156Q|SOS1_ENST00000395038.2_Missense_Mutation_p.E156Q Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 156 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) TTTGTAATTTCATAATGCCGT 0.318000 Noonan syndrome 54 161 0 0 0.014410 0 0 ACOX3 8310 broad.mit.edu 37 4 8372712 8372712 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:8372712C>T ENST00000356406.5 - 17 1983 c.1906G>A c.(1906-1908)Gat>Aat p.D636N ACOX3_ENST00000503233.1_Missense_Mutation_p.D636N|ACOX3_ENST00000413009.2_Missense_Mutation_p.R613Q|ACOX3_ENST00000515797.1_5'UTR NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 636 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 GCAACTGCATCGTCTTTCAGC 0.567000 12 25 0 0 0.013537 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296403 145296403 + Silent SNP C C T rs4996269 by1000genomes TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:145296403C>T ENST00000342960.5 + 3 360 c.325C>T c.(325-327)Cta>Tta p.L109L NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 109 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCTGACCCAGCTAAGGGAGAA 0.517000 5 247 0 0 0.000602 0 0 CHAD 1101 broad.mit.edu 37 17 48542794 48542794 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:48542794C>T ENST00000508540.1 - 3 1097 c.945G>A c.(943-945)ctG>ctA p.L315L ACSF2_ENST00000504392.1_Intron|CHAD_ENST00000258969.4_Silent_p.L315L|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron NM_001267.2 NP_001258.2 O15335 CHAD_HUMAN chondroadherin 315 LRRCT. regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2) 15 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CCTTGGCTTCCAGCCACCTGG 0.622000 10 33 0 0 0.008291 0 0 NOTCH4 4855 broad.mit.edu 37 6 32181995 32181995 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:32181995C>G ENST00000375023.3 - 13 2197 c.2059G>C c.(2059-2061)Gag>Cag p.E687Q NOTCH4_ENST00000465528.1_5'UTR NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 687 EGF-like 17. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GCCTCACACTCTGGCCCCGTC 0.592000 44 95 0 0 0.014410 0 0 CUBN 8029 broad.mit.edu 37 10 17171672 17171672 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:17171672C>G ENST00000377833.4 - 1 158 c.93G>C c.(91-93)caG>caC p.Q31H CUBN_ENST00000377823.1_Missense_Mutation_p.Q31H NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 31 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTTTTTGTCTCTGCAGCTCAA 0.413000 23 68 0 0 0.003954 0 0 PCDH18 54510 broad.mit.edu 37 4 138451460 138451460 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr4:138451460C>T ENST00000344876.4 - 1 2169 c.1783G>A c.(1783-1785)Gaa>Aaa p.E595K PCDH18_ENST00000507846.1_Missense_Mutation_p.E375K|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E595K|PCDH18_ENST00000511115.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 595 Cadherin 6. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AAGCCACTTTCAGCCCCTTTG 0.453000 77 171 0 0 0.014410 0 0 POLG 5428 broad.mit.edu 37 15 89866111 89866111 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr15:89866111C>T ENST00000268124.5 - 14 2621 c.2288G>A c.(2287-2289)gGa>gAa p.G763E POLG_ENST00000442287.2_Missense_Mutation_p.G763E NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 763 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) AAAGGGGCTTCCCACATTACA 0.597000 DNA polymerases (catalytic subunits) 35 76 0 0 0.004289 0 0 RIMS1 22999 broad.mit.edu 37 6 72892108 72892108 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:72892108G>A ENST00000264839.7 + 6 934 c.934G>A c.(934-936)Gaa>Aaa p.E312K RIMS1_ENST00000348717.5_Missense_Mutation_p.E312K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E312K|RIMS1_ENST00000517960.1_Missense_Mutation_p.E312K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E312K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E312K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E312K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E312K Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 312 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GGAGCGCAAAGAAAGGCGGGA 0.602000 10 31 0 0 0.006214 0 0 SVIL 6840 broad.mit.edu 37 10 29819560 29819560 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:29819560G>A ENST00000375398.2 - 13 2531 c.2082C>T c.(2080-2082)gtC>gtT p.V694V SVIL_ENST00000375400.3_Silent_p.V300V|SVIL_ENST00000355867.4_Silent_p.V694V O95425 SVIL_HUMAN supervillin 694 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TCTTGGCGGCGACGCTCAGCT 0.473000 5 130 0 0 0.001984 0 0 EIF3A 8661 broad.mit.edu 37 10 120824916 120824916 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr10:120824916C>T ENST00000369144.3 - 7 1244 c.1117G>A c.(1117-1119)Gat>Aat p.D373N EIF3A_ENST00000541549.1_Missense_Mutation_p.D339N NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 373 PCI. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CTAACCATATCATTAATAAGG 0.388000 18 59 0 0 0.006122 0 0 DNAH11 8701 broad.mit.edu 37 7 21721170 21721170 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr7:21721170C>G ENST00000328843.6 + 31 5381 c.5350C>G c.(5350-5352)Cag>Gag p.Q1784E DNAH11_ENST00000409508.3_Missense_Mutation_p.Q1779E Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1784 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTAGATTTCTCAGCTGAATAC 0.378000 Kartagener syndrome 4 15 0 0 0.009096 0 0 ZNF844 284391 broad.mit.edu 37 19 12187310 12187310 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:12187310C>T ENST00000439326.3 + 4 1550 c.1375C>T c.(1375-1377)Ctg>Ttg p.L459L ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GCCTTCAGATCTGCCTCACAC 0.428000 22 71 0 0 0.014323 0 0 LATS2 26524 broad.mit.edu 37 13 21555655 21555655 + Nonsense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr13:21555655G>C ENST00000382592.4 - 6 3020 c.2615C>G c.(2614-2616)tCa>tGa p.S872* LATS2_ENST00000542899.1_Nonsense_Mutation_p.S872* NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 872 Protein kinase. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CCCCACCAGTGAATGTGCCAG 0.612000 3 27 0 0 0.009096 0 0 EXOC2 55770 broad.mit.edu 37 6 617745 617745 + Silent SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:617745G>C ENST00000230449.4 - 6 762 c.627C>G c.(625-627)ctC>ctG p.L209L EXOC2_ENST00000448181.3_Intron NM_018303.5 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 209 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) AGAATGTACTGAGACCGCCTT 0.537000 14 31 0 0 0.001855 0 0 CEP85L 387119 broad.mit.edu 37 6 118790255 118790255 + Nonsense_Mutation SNP G G T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:118790255G>T ENST00000368491.3 - 12 2855 c.2234C>A c.(2233-2235)tCa>tAa p.S745* CEP85L_ENST00000368488.5_Nonsense_Mutation_p.S748* NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 745 centrosome CAGTAATAATGAAAGATTAGG 0.383000 15 30 6.31663e-08 6.87134e-08 0.003163 1 0 SAA2 6289 broad.mit.edu 37 11 18267568 18267568 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:18267568G>C ENST00000414546.2 - 3 163 c.119C>G c.(118-120)tCt>tGt p.S40C SAA2_ENST00000256733.4_Missense_Mutation_p.S40C|SAA2_ENST00000528349.1_Missense_Mutation_p.S40C|SAA2_ENST00000529528.1_Missense_Mutation_p.S40C|SAA2_ENST00000530400.1_Missense_Mutation_p.S40C|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000526900.1_Missense_Mutation_p.S40C NM_001127380.2 NP_001120852.1 serum amyloid A2 central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6 TCTCATGTCAGAGTAGGCTCT 0.527000 8 26 0 0 0.001855 0 0 KDM2A 22992 broad.mit.edu 37 11 66975111 66975111 + Silent SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr11:66975111C>G ENST00000529006.2 + 6 884 c.438C>G c.(436-438)ctC>ctG p.L146L KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.L146L NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm 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|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 TCATCAGCCTCGAGTTTAGCC 0.463000 6 14 0 0 0.001168 0 0 CHGB 1114 broad.mit.edu 37 20 5905672 5905672 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr20:5905672G>C ENST00000378961.4 + 5 2215 c.2011G>C c.(2011-2013)Gag>Cag p.E671Q NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 671 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAAGATAGCTGAGAAATTCAG 0.448000 8 21 0 0 0.004482 0 0 DUSP27 92235 broad.mit.edu 37 1 167096804 167096804 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:167096804C>T ENST00000361200.2 + 6 2602 c.2436C>T c.(2434-2436)tgC>tgT p.C812C DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.C812C|DUSP27_ENST00000443333.1_Silent_p.C812C Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 812 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CGGAAAGTTGCAGAAGCAAAG 0.567000 21 42 0 0 0.008871 0 0 FER1L5 90342 broad.mit.edu 37 2 97369346 97369346 + RNA SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr2:97369346G>C ENST00000457909.1 + 0 5281 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 AACCCAACCAGTACCCCACAC 0.557000 8 29 0 0 0.003080 0 0 CENPH 64946 broad.mit.edu 37 5 68498364 68498364 + Missense_Mutation SNP G G C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr5:68498364G>C ENST00000283006.2 + 6 490 c.403G>C c.(403-405)Gag>Cag p.E135Q CENPH_ENST00000515001.1_Missense_Mutation_p.E116Q NM_022909.3 NP_075060.1 Q9H3R5 CENPH_HUMAN centromere protein H 135 cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm kinetochore binding|protein binding kidney(15)|large_intestine(2)|lung(3) 20 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178) ACACCTATTAGAGCTAAATAA 0.294000 20 25 0 0 0.008871 0 0 ZNF649 65251 broad.mit.edu 37 19 52393872 52393872 + Silent SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr19:52393872C>T ENST00000354957.3 - 5 1801 c.1517G>A c.(1516-1518)tGa>tAa p.*506* ZNF649_ENST00000600738.1_Silent_p.*478*|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) aactgtttatcatgaatgcag 0.468000 24 57 0 0 0.014323 0 0 PNPLA8 50640 broad.mit.edu 37 7 108154679 108154679 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr7:108154679C>G ENST00000426128.2 - 3 1240 c.1115G>C c.(1114-1116)aGa>aCa p.R372T PNPLA8_ENST00000388728.5_Missense_Mutation_p.R372T|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R272T|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R372T|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R372T|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R372T NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 372 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 GTCAGTTGTTCTTCTTAATGC 0.373000 9 342 0 0 0.004482 0 0 MIA3 375056 broad.mit.edu 37 1 222801874 222801874 + Missense_Mutation SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr1:222801874G>A ENST00000344922.5 + 4 1337 c.1312G>A c.(1312-1314)Gac>Aac p.D438N MIA3_ENST00000344507.1_Missense_Mutation_p.D438N|MIA3_ENST00000344441.6_Missense_Mutation_p.D438N|MIA3_ENST00000470521.1_3'UTR NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 438 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TAGTGACCCTGACAATGTAGA 0.388000 6 126 0 0 0.001984 0 0 FAN1 22909 broad.mit.edu 37 15 31210496 31210496 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr15:31210496G>A ENST00000362065.4 + 6 2232 c.1941G>A c.(1939-1941)ctG>ctA p.L647L NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 647 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 ACCCTTCTCTGAGGTGAGAGT 0.413000 Direct reversal of damage 29 56 0 0 0.005443 0 0 GYS2 2998 broad.mit.edu 37 12 21689962 21689962 + Missense_Mutation SNP T T G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr12:21689962T>G ENST00000261195.2 - 16 2292 c.2038A>C c.(2038-2040)Aat>Cat p.N680H NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 680 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GACTTGATATTTAACCGATCC 0.463000 22 59 0 0 0.012319 0 0 FGF11 2256 broad.mit.edu 37 17 7344850 7344850 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr17:7344850C>T ENST00000293829.4 + 2 848 c.254C>T c.(253-255)gCg>gTg p.A85V FGF11_ENST00000575082.1_5'UTR|RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000575398.1_5'UTR|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000572907.1_5'UTR|FGF11_ENST00000575235.1_5'UTR NM_004112.2 NP_004103.1 Q92914 FGF11_HUMAN fibroblast growth factor 11 85 cell-cell signaling|nervous system development|signal transduction growth factor activity central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1) 6 Prostate(122;0.157) TACCTCCAGGCGAATCCCGAC 0.572000 11 18 0 0 0.010729 0 0 TNFRSF6B 8771 broad.mit.edu 37 20 62329778 62329778 + Silent SNP G G A TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr20:62329778G>A ENST00000369996.1 + 3 865 c.765G>A c.(763-765)ctG>ctA p.L255L RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR NM_003823.3 NP_003814.1 O95407 TNF6B_HUMAN tumor necrosis factor receptor superfamily, member 6b, decoy 255 anti-apoptosis|apoptosis extracellular region|soluble fraction protein binding|receptor activity central_nervous_system(1)|lung(2)|skin(1) 4 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) CCTTGCAGCTGAAGCTGCGTC 0.746000 3 5 0 0 0.004672 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313296 1313297 + Frame_Shift_Ins INS - - C TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr6:1313296_1313297insC ENST00000296839.2 + 1 622_623 c.357_358insC c.(358-360)cccfs p.P120fs NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 120 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) GGCGGCCCAAGCCCCCCTACTC 0.733 7 38 --- --- --- --- CCT8 10694 broad.mit.edu 37 21 30442607 30442608 + Frame_Shift_Ins INS - - CT TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 918997c8-256c-4084-a84e-e153eff11666 4194d054-f831-45e3-881f-4cd762bb72c5 g.chr21:30442607_30442608insCT ENST00000286788.4 - 2 317_318 c.111_112insAG c.(109-114)aaggagfs p.E38fs CCT8_ENST00000540844.1_5'UTR|CCT8_ENST00000542732.1_Frame_Shift_Ins_p.E19fs|CCT8_ENST00000470450.1_5'UTR NM_006585.2 NP_006576.2 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 38 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3) 14 TGGGCAAGCTCCTTGCAAGCTT 0.356 13 51 --- --- --- ---