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 DCTN4 51164 broad.mit.edu 37 5 150099298 150099298 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:150099298G>A ENST00000447998.2 - 10 1058 c.943C>T c.(943-945)Ccc>Tcc p.P315S DCTN4_ENST00000424236.1_Missense_Mutation_p.P258S|DCTN4_ENST00000446090.2_Missense_Mutation_p.P322S NM_016221.3 NP_057305.1 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) 315 centrosome|nucleus protein N-terminus binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 10 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGAAGGTTGGGAATTGACATG 0.333000 19 2 0 0 0.575678 0 0 KIF5C 3800 broad.mit.edu 37 2 149861968 149861968 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:149861968G>A ENST00000435030.1 + 22 2803 c.2435G>A c.(2434-2436)cGa>cAa p.R812Q KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R717Q|KIF5C_ENST00000397413.1_Missense_Mutation_p.R580Q O60282 KIF5C_HUMAN kinesin family member 5C 812 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CTGACCACCCGAGTTAAAAAA 0.403000 3 16 0 0 0.115264 0 0 ZBTB12 221527 broad.mit.edu 37 6 31868680 31868680 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr6:31868680C>G ENST00000375527.2 - 2 578 c.403G>C c.(403-405)Gag>Cag p.E135Q C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 ACCCCATCCTCTTTGAGGCCT 0.602000 22 48 0 0 0.654019 0 0 NOL6 65083 broad.mit.edu 37 9 33464905 33464905 + Silent SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr9:33464905G>C ENST00000379471.2 - 21 2838 c.2751C>G c.(2749-2751)ctC>ctG p.L917L NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.L865L Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 917 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GGTTGACAAAGAGGGGGTTGT 0.483000 13 27 0 0 0.500413 0 0 TOB1 10140 broad.mit.edu 37 17 48940765 48940765 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:48940765G>A ENST00000499247.2 - 2 1047 c.614C>T c.(613-615)tCt>tTt p.S205F TOB1_ENST00000268957.3_Missense_Mutation_p.S205F|TOB1_ENST00000509385.1_5'UTR NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 205 negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GTTGATGGGAGAAGTACGTGC 0.493000 14 72 0 0 0.457914 0 0 MAP3K13 9175 broad.mit.edu 37 3 185181390 185181390 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:185181390G>A ENST00000265026.3 + 8 1665 c.1331G>A c.(1330-1332)gGa>gAa p.G444E MAP3K13_ENST00000443863.1_Missense_Mutation_p.G300E|MAP3K13_ENST00000424227.1_Missense_Mutation_p.G444E|MAP3K13_ENST00000446828.1_Missense_Mutation_p.G237E|MAP3K13_ENST00000535426.1_Missense_Mutation_p.G300E NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 444 Leucine-zipper 1. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAAGTGAAGGAACTTGTATA 0.443000 7 74 0 0 0.248553 0 0 PHOX2A 401 broad.mit.edu 37 11 71950871 71950871 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:71950871G>A ENST00000298231.5 - 3 948 c.777C>T c.(775-777)tcC>tcT p.S259S NM_005169.3 NP_005160.2 O14813 PHX2A_HUMAN paired-like homeobox 2a 259 noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 5 GCCCGGGGCCGGACTCCGCCG 0.726000 11 2 0 0 0.387290 0 0 OR8J3 81168 broad.mit.edu 37 11 55904466 55904466 + Silent SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:55904466C>A ENST00000301529.1 - 1 728 c.729G>T c.(727-729)tcG>tcT p.S243S NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S243S(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) CTATCATATGCGAAGCGCAGG 0.403000 17 18 1.99824e-07 2.09865e-07 0.520397 1 0 RABGAP1L 9910 broad.mit.edu 37 1 174210653 174210653 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:174210653C>T ENST00000251507.4 + 5 749 c.575C>T c.(574-576)gCa>gTa p.A192V RABGAP1L_ENST00000357444.6_Missense_Mutation_p.A155V|RABGAP1L_ENST00000367689.3_5'UTR NM_014857.4 NP_055672.3 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 192 PID. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 GTGGAGATAGCATCTTTTCCA 0.363000 10 23 0 0 0.411799 0 0 GPR141 353345 broad.mit.edu 37 7 37780343 37780343 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr7:37780343C>G ENST00000447769.1 + 4 637 c.348C>G c.(346-348)atC>atG p.I116M EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.I116M|GPR141_ENST00000461610.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 116 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GATACCTCATCTTCTTCAAGT 0.493000 13 91 0 0 0.479597 0 0 GPR133 283383 broad.mit.edu 37 12 131490586 131490586 + Missense_Mutation SNP A A C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:131490586A>C ENST00000261654.5 + 12 1884 c.1325A>C c.(1324-1326)cAc>cCc p.H442P GPR133_ENST00000535015.1_Missense_Mutation_p.H474P|GPR133_ENST00000376682.4_Missense_Mutation_p.H128P NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 442 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TGGCCCGCCCACACCAAGTGA 0.647000 23 47 0 0 0.654019 0 0 KCNA6 3742 broad.mit.edu 37 12 4920778 4920778 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:4920778G>C ENST00000433855.1 + 1 2437 c.1571G>C c.(1570-1572)aGa>aCa p.R524T KCNA6_ENST00000280684.3_Missense_Mutation_p.R524T NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 524 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 GCAGAGAAAAGAATGCTCACG 0.562000 HNSCC(72;0.22) 20 66 0 0 0.624587 0 0 FGFR4 2264 broad.mit.edu 37 5 176523291 176523291 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:176523291C>T ENST00000292408.4 + 15 2193 c.1948C>T c.(1948-1950)Cgc>Tgc p.R650C FGFR4_ENST00000502906.1_Missense_Mutation_p.R650C|FGFR4_ENST00000393637.1_Missense_Mutation_p.R610C|FGFR4_ENST00000393648.2_Missense_Mutation_p.R582C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R610C NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 650 Protein kinase. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CCTCCAGGGCCGCCTGCCTGT 0.672000 TSP Lung(9;0.080) 13 42 0 0 0.500413 0 0 COG3 83548 broad.mit.edu 37 13 46039343 46039343 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:46039343G>A ENST00000349995.5 + 1 284 c.172G>A c.(172-174)Gag>Aag p.E58K NM_031431.3 NP_113619 Q96JB2 COG3_HUMAN component of oligomeric golgi complex 3 58 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1) 24 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) GGTGCCAGCTGAGGTGAGGTG 0.692000 15 35 0 0 0.520397 0 0 OR5H6 79295 broad.mit.edu 37 3 97983269 97983269 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:97983269C>G ENST00000383696.2 + 1 182 c.141C>G c.(139-141)ttC>ttG p.F47L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TCCTGGCATTCTTGGTAATAT 0.413000 70 187 0 0 0.870114 0 0 SCN1A 6323 broad.mit.edu 37 2 166850686 166850686 + Missense_Mutation SNP C C T rs121917915 TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:166850686C>T ENST00000423058.2 - 25 4839 c.4822G>A c.(4822-4824)Gat>Aat p.D1608N SCN1A_ENST00000303395.4_Missense_Mutation_p.D1608N|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1597N|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1580N NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1608 D -> Y (in SMEI; dbSNP:rs121917915). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ACCACAAAATCAAAAATATTC 0.318000 5 7 0 0 0.217242 0 0 SDK2 54549 broad.mit.edu 37 17 71386527 71386527 + Missense_Mutation SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:71386527C>A ENST00000392650.3 - 29 4091 c.4091G>T c.(4090-4092)gGc>gTc p.G1364V SDK2_ENST00000388726.3_Missense_Mutation_p.G1364V NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1364 Fibronectin type-III 8. cell adhesion integral to membrane p.G1364V(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGGCTTGAGGCCCGTGGCTGT 0.647000 4 23 0.00909568 0.00927316 0.150653 1 0 ST18 9705 broad.mit.edu 37 8 53084772 53084772 + Missense_Mutation SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:53084772T>C ENST00000276480.7 - 10 1332 c.649A>G c.(649-651)Aga>Gga p.R217G NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 217 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTTGGGACTCTAGGTGGTTTG 0.413000 24 24 0 0 0.654019 0 0 GPR119 139760 broad.mit.edu 37 X 129518617 129518617 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chrX:129518617C>T ENST00000276218.2 - 1 894 c.805G>A c.(805-807)Gtg>Atg p.V269M NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 269 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 GAGTTGCCCACGCCGAGCAGC 0.577000 63 1 0 0 0.870114 0 0 MYO3A 53904 broad.mit.edu 37 10 26462805 26462805 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr10:26462805C>T ENST00000265944.5 + 30 3778 c.3612C>T c.(3610-3612)ttC>ttT p.F1204F MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1204 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AGCAAGAATTCTACCTTGTAG 0.423000 9 47 0 0 0.307466 0 0 HDAC5 10014 broad.mit.edu 37 17 42165952 42165952 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:42165952G>A ENST00000225983.6 - 12 1728 c.1405C>T c.(1405-1407)Cag>Tag p.Q469* HDAC5_ENST00000393622.2_Nonsense_Mutation_p.Q468*|HDAC5_ENST00000336057.5_Nonsense_Mutation_p.Q468*|HDAC5_ENST00000586802.1_Nonsense_Mutation_p.Q468* Q9UQL6 HDAC5_HUMAN histone deacetylase 5 468 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) AGTGGGGACTGCCCGTGGAGT 0.652000 3 41 0 0 0.150653 0 0 ANKHD1 54882 broad.mit.edu 37 5 139889761 139889761 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:139889761C>T ENST00000297183.6 + 22 4223 c.4099C>T c.(4099-4101)Cgc>Tgc p.R1367C ANKHD1_ENST00000360839.2_Missense_Mutation_p.R1367C|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1367C NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCAGCATTTCGCAAGGTAAT 0.388000 4 23 0 0 0.184627 0 0 KIF26B 55083 broad.mit.edu 37 1 245849192 245849192 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:245849192G>A ENST00000366518.4 + 9 1868 c.1764G>A c.(1762-1764)gcG>gcA p.A588A KIF26B_ENST00000407071.2_Silent_p.A969A Q2KJY2 KI26B_HUMAN kinesin family member 26B 969 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCCAAGCAGCGGGGGCAAGCC 0.587000 3 16 0 0 0.150653 0 0 DCST2 127579 broad.mit.edu 37 1 155001803 155001803 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:155001803G>A ENST00000368424.3 - 8 1306 c.1248C>T c.(1246-1248)ctC>ctT p.L416L DCST2_ENST00000295536.5_Silent_p.L416L NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 416 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCACGAGGAGGAGGTGTCGGA 0.547000 36 94 0 0 0.804634 0 0 LLGL1 3996 broad.mit.edu 37 17 18137636 18137636 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:18137636C>T ENST00000316843.4 + 7 860 c.764C>T c.(763-765)tCa>tTa p.S255L NM_004140.3 NP_004131 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 255 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) GTGGTCAGCTCACACAGCGAT 0.647000 9 4 0 0 0.307466 0 0 LSM1 27257 broad.mit.edu 37 8 38021254 38021254 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:38021254C>T ENST00000311351.4 - 4 731 c.336G>A c.(334-336)ttG>ttA p.L112L RP11-90P5.2_ENST00000520598.1_RNA|LSM1_ENST00000522515.1_5'UTR|LSM1_ENST00000520755.1_3'UTR NM_014462.2 NP_055277.1 O15116 LSM1_HUMAN LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae) 112 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions cytosol|nucleus|ribonucleoprotein complex protein binding|RNA binding kidney(2)|large_intestine(3)|lung(2) 7 Colorectal(12;0.000442) CCTGCACTTTCAACTTCTCTG 0.478000 9 31 0 0 0.335167 0 0 FAM73A 374986 broad.mit.edu 37 1 78267138 78267138 + Silent SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:78267138A>G ENST00000370791.3 + 3 350 c.318A>G c.(316-318)ccA>ccG p.P106P FAM73A_ENST00000443751.2_Silent_p.P68P NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 106 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) AAATATTACCATGGGAACCAG 0.353000 14 26 0 0 0.435327 0 0 PCNX 22990 broad.mit.edu 37 14 71443817 71443817 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr14:71443817C>T ENST00000304743.2 + 6 1209 c.763C>T c.(763-765)Ctg>Ttg p.L255L PCNX_ENST00000238570.5_Silent_p.L255L|PCNX_ENST00000439984.3_Silent_p.L255L NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 255 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TGATCAGTCTCTGTCCAGCGC 0.502000 10 23 0 0 0.335167 0 0 FAM213A 84293 broad.mit.edu 37 10 82187195 82187195 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr10:82187195C>G ENST00000372181.1 + 4 989 c.519C>G c.(517-519)aaC>aaG p.N173K FAM213A_ENST00000372188.1_Missense_Mutation_p.N173K|FAM213A_ENST00000372187.5_Missense_Mutation_p.N173K|FAM213A_ENST00000372185.1_Missense_Mutation_p.N162K NM_001243778.1|NM_001243782.1 NP_001230707.1|NP_001230711.1 Q9BRX8 CJ058_HUMAN family with sequence similarity 213, member A 173 extracellular region TCTCTGGAAACCTGGAAGGAG 0.502000 38 27 0 0 0.812448 0 0 TBL1X 6907 broad.mit.edu 37 X 9659696 9659696 + Nonsense_Mutation SNP G G T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chrX:9659696G>T ENST00000217964.7 + 8 1334 c.694G>T c.(694-696)Gag>Tag p.E232* TBL1X_ENST00000407597.2_Nonsense_Mutation_p.E232*|TBL1X_ENST00000380961.1_Nonsense_Mutation_p.E181*|TBL1X_ENST00000536365.1_Nonsense_Mutation_p.E181*|TBL1X_ENST00000424279.1_Nonsense_Mutation_p.E181* NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 232 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) TCGGGGCCATGAGTCTGAGGT 0.527000 30 5 1.13719e-10 1.23147e-10 0.729181 1 0 DDX54 79039 broad.mit.edu 37 12 113596723 113596723 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:113596723C>G ENST00000314045.7 - 20 2635 c.2608G>C c.(2608-2610)Ggt>Cgt p.G870R DDX54_ENST00000306014.5_Missense_Mutation_p.G869R|DDX54_ENST00000549271.1_5'UTR|CCDC42B_ENST00000335621.6_3'UTR NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 869 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GAGCGGGCACCCCGGCCGAAG 0.672000 6 34 0 0 0.307466 0 0 ITGBL1 9358 broad.mit.edu 37 13 102106412 102106412 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:102106412G>A ENST00000376180.3 + 2 496 c.277G>A c.(277-279)Gag>Aag p.E93K ITGBL1_ENST00000545560.2_Intron NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 93 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGAGTGCCATGAGTGGGTGTG 0.667000 4 10 0 0 0.248553 0 0 CELF2 10659 broad.mit.edu 37 10 11060098 11060098 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr10:11060098G>A ENST00000450189.1 + 1 206 c.46G>A c.(46-48)Gag>Aag p.E16K CELF2_ENST00000379261.4_Intron|CELF2_ENST00000542579.1_Missense_Mutation_p.E16K|CELF2_ENST00000416382.2_Intron NM_006561.3 NP_006552.3 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 0 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CATGATGGTCGAGGGCCGCCT 0.721000 33 97 0 0 0.812448 0 0 LPPR4 9890 broad.mit.edu 37 1 99771891 99771891 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:99771891G>C ENST00000370185.3 + 7 2114 c.1617G>C c.(1615-1617)gaG>gaC p.E539D LPPR4_ENST00000457765.1_Missense_Mutation_p.E481D|LPPR4_ENST00000370184.1_Missense_Mutation_p.E381D NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 539 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TCCCTGAGGAGACTCAGGAAA 0.557000 40 126 0 0 0.834066 0 0 NGLY1 55768 broad.mit.edu 37 3 25761126 25761126 + Splice_Site SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:25761126T>C ENST00000428257.1 - 12 1843 c.1736A>G c.(1735-1737)gAt>gGt p.D579G NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Splice_Site_p.I538V|NGLY1_ENST00000280700.5_Splice_Site_p.D597G|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000417874.2_Splice_Site_p.D555G NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 597 PAW. glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 AAGACTGTTATCTGTTAGAGG 0.343000 19 26 0 0 0.557998 0 0 SPTBN4 57731 broad.mit.edu 37 19 41040194 41040194 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr19:41040194G>C ENST00000352632.3 + 20 4389 c.4303G>C c.(4303-4305)Gac>Cac p.D1435H SPTBN4_ENST00000598249.1_Missense_Mutation_p.D1435H|SPTBN4_ENST00000392023.1_Missense_Mutation_p.D111H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D1435H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.D178H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D1435H Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1435 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCAGCTGCAAGACGTGGACCC 0.582000 8 46 0 0 0.335167 0 0 SEL1L2 80343 broad.mit.edu 37 20 13847482 13847482 + Missense_Mutation SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr20:13847482A>G ENST00000284951.5 - 15 1344 c.1270T>C c.(1270-1272)Tgg>Cgg p.W424R SEL1L2_ENST00000378072.5_Missense_Mutation_p.W424R|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 424 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 TAATCCTTCCATATTCCAGAG 0.363000 6 61 0 0 0.217242 0 0 CAND1 55832 broad.mit.edu 37 12 67703818 67703818 + Nonsense_Mutation SNP G G T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:67703818G>T ENST00000545606.1 + 12 3600 c.3163G>T c.(3163-3165)Gaa>Taa p.E1055* NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 1055 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TCTTTACAATGAAACAAAAGT 0.348000 18 47 1.67942e-08 1.78172e-08 0.539581 1 0 ZNF335 63925 broad.mit.edu 37 20 44578441 44578441 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr20:44578441G>A ENST00000322927.2 - 24 3767 c.3667C>T c.(3667-3669)Cag>Tag p.Q1223* ZNF335_ENST00000426788.1_Nonsense_Mutation_p.Q1068* NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1223 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TAGCTCACCTGGTTGTCGGAG 0.562000 7 65 0 0 0.278610 0 0 FARP2 9855 broad.mit.edu 37 2 242373632 242373632 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:242373632C>T ENST00000264042.3 + 10 1097 c.927C>T c.(925-927)ttC>ttT p.F309F FARP2_ENST00000545004.1_Silent_p.F309F|FARP2_ENST00000373287.4_Silent_p.F309F NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 309 FERM. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GTAAGAACTTCTGGAAGATTT 0.398000 27 52 0 0 0.729181 0 0 MYOD1 4654 broad.mit.edu 37 11 17741681 17741681 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:17741681G>C ENST00000250003.3 + 1 567 c.352G>C c.(352-354)Gag>Cag p.E118Q NM_002478.4 NP_002469.2 P15172 MYOD1_HUMAN myogenic differentiation 1 118 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 17 CACCATGCGCGAGCGGCGCCG 0.662000 3 5 0 0 0.115264 0 0 PPP3CC 5533 broad.mit.edu 37 8 22332514 22332514 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:22332514G>C ENST00000240139.5 + 2 424 c.97G>C c.(97-99)Gag>Cag p.E33Q PPP3CC_ENST00000289963.8_Missense_Mutation_p.E33Q|PPP3CC_ENST00000397775.3_Missense_Mutation_p.E33Q|PPP3CC_ENST00000518852.1_Missense_Mutation_p.E33Q NM_005605.4 NP_005596.2 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma isozyme 33 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) GGAAGTATTTGAGAATGGGAA 0.338000 10 20 0 0 0.361761 0 0 SCN8A 6334 broad.mit.edu 37 12 52200276 52200276 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:52200276G>A ENST00000354534.6 + 27 5184 c.5006G>A c.(5005-5007)gGg>gAg p.G1669E SCN8A_ENST00000545061.1_Missense_Mutation_p.G1628E NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCCATTTTTGGGATGTCCAAT 0.458000 12 90 0 0 0.387290 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17143877 17143877 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:17143877C>T ENST00000265970.7 - 14 2514 c.2515G>A c.(2515-2517)Gat>Aat p.D839N PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.D459N NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 839 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity p.D839H(1) central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) GAAGGAAAATCAACCTTTAAA 0.303000 6 31 0 0 0.248553 0 0 HMGXB4 10042 broad.mit.edu 37 22 35660675 35660675 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:35660675G>C ENST00000216106.5 + 5 422 c.294G>C c.(292-294)aaG>aaC p.K98N HMGXB4_ENST00000444518.2_5'UTR NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 98 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGAAGAAAAAGAAAAAGTCCA 0.438000 24 53 0 0 0.639603 0 0 MTMR3 8897 broad.mit.edu 37 22 30403146 30403146 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:30403146G>C ENST00000333027.3 + 10 1043 c.715G>C c.(715-717)Gag>Cag p.E239Q MTMR3_ENST00000406629.1_Missense_Mutation_p.E239Q|MTMR3_ENST00000351488.3_Missense_Mutation_p.E239Q|MTMR3_ENST00000401950.2_Missense_Mutation_p.E239Q|MTMR3_ENST00000323630.5_Missense_Mutation_p.E103Q NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 239 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TGGACAGCCAGAGGTTAGCTG 0.537000 16 53 0 0 0.520397 0 0 STT3B 201595 broad.mit.edu 37 3 31638349 31638349 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:31638349C>T ENST00000295770.2 + 4 980 c.771C>T c.(769-771)ttC>ttT p.F257F STT3B_ENST00000453168.1_3'UTR NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 257 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 TATCCTATTTCTATATGGTAA 0.313000 13 43 0 0 0.479597 0 0 BMP1 649 broad.mit.edu 37 8 22033756 22033756 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:22033756G>A ENST00000306385.5 + 3 1033 c.363G>A c.(361-363)gcG>gcA p.A121A BMP1_ENST00000397816.3_Silent_p.A121A|BMP1_ENST00000306349.8_Silent_p.A121A|BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000397814.3_Silent_p.A121A|BMP1_ENST00000354870.5_Silent_p.A121A NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 121 Metalloprotease. 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 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) GCCGGCGGGCGGCGACGTCCC 0.622000 22 41 0 0 0.654019 0 0 SYNE1 23345 broad.mit.edu 37 6 152461088 152461088 + Silent SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr6:152461088G>C ENST00000367255.5 - 140 26056 c.25455C>G c.(25453-25455)ctC>ctG p.L8485L SYNE1_ENST00000448038.1_Silent_p.L8437L|SYNE1_ENST00000423061.1_Silent_p.L8437L|SYNE1_ENST00000539504.1_Silent_p.L640L|SYNE1_ENST00000354674.4_Silent_p.L663L|SYNE1_ENST00000356820.4_Silent_p.L3009L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.L8097L|SYNE1_ENST00000265368.4_Silent_p.L8485L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8485 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAGCTACCTTGAGCTTTTTGA 0.587000 HNSCC(10;0.0054) 9 45 0 0 0.307466 0 0 GABRB3 2562 broad.mit.edu 37 15 26792968 26792968 + Nonsense_Mutation SNP A A T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr15:26792968A>T ENST00000541819.2 - 10 1664 c.1562T>A c.(1561-1563)tTa>tAa p.L521* GABRB3_ENST00000545868.1_Nonsense_Mutation_p.L380*|GABRB3_ENST00000311550.5_Nonsense_Mutation_p.L465*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.L394*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.L465* P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 465 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCAGTAAACTAAGTTGAAAAG 0.353000 22 32 0 0 0.624587 0 0 TRPV5 56302 broad.mit.edu 37 7 142626153 142626153 + Nonsense_Mutation SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr7:142626153C>A ENST00000265310.1 - 5 898 c.550G>T c.(550-552)Gag>Tag p.E184* TRPV5_ENST00000442623.1_Nonsense_Mutation_p.E184* NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 184 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GCTCCATGCTCAATGAGCAGC 0.612000 12 30 2.23348e-06 2.33399e-06 0.500413 1 0 STRBP 55342 broad.mit.edu 37 9 125898322 125898322 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr9:125898322G>A ENST00000447404.2 - 15 2075 c.1771C>T c.(1771-1773)Cag>Tag p.Q591* STRBP_ENST00000348403.5_Nonsense_Mutation_p.Q591*|STRBP_ENST00000360998.3_Nonsense_Mutation_p.Q577* Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 591 multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 ACTCATACCTGAGGGATAATC 0.378000 8 20 0 0 0.307466 0 0 MTUS2 23281 broad.mit.edu 37 13 29600135 29600135 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:29600135G>A ENST00000431530.3 + 1 1388 c.1330G>A c.(1330-1332)Gac>Aac p.D444N NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 434 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TTCACCAGGTGACAGTCATGT 0.488000 9 44 0 0 0.361761 0 0 ANKRD28 23243 broad.mit.edu 37 3 15720866 15720866 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:15720866C>T ENST00000399451.2 - 23 2780 c.2413G>A c.(2413-2415)Gag>Aag p.E805K ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.E838K NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 805 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 ATTAACATCTCAGCAGCACCT 0.378000 43 143 0 0 0.870114 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105900801 105900801 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:105900801G>A ENST00000393359.2 - 5 1519 c.1093C>T c.(1093-1095)Cag>Tag p.Q365* TGFBRAP1_ENST00000258449.1_Nonsense_Mutation_p.Q365* Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 365 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 TCCAGGAACTGAAGTTGTGCA 0.468000 23 66 0 0 0.693898 0 0 SALL3 27164 broad.mit.edu 37 18 76753543 76753543 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr18:76753543G>A ENST00000536229.3 + 1 1862 c.1153G>A c.(1153-1155)Gtg>Atg p.V385M SALL3_ENST00000537592.2_Missense_Mutation_p.V518M|SALL3_ENST00000575389.2_Missense_Mutation_p.V518M Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 518 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CAGCAAGCCCGTGCTGCCCAC 0.721000 4 7 0 0 0.184627 0 0 SPEF2 79925 broad.mit.edu 37 5 35709167 35709167 + Missense_Mutation SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:35709167T>C ENST00000440995.2 + 19 2768 c.2768T>C c.(2767-2769)aTt>aCt p.I923T CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.I928T|SPEF2_ENST00000509059.1_Missense_Mutation_p.I923T Q9C093 SPEF2_HUMAN sperm flagellar 2 928 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAGAAGGAAATTCATCAAAGC 0.423000 6 82 0 0 0.217242 0 0 PARP4 143 broad.mit.edu 37 13 25021310 25021310 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:25021310C>T ENST00000381989.3 - 26 3234 c.3129G>A c.(3127-3129)atG>atA p.M1043I NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1043 VWFA. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity p.M1043I(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) ATAGCCTGGTCATTTGGTCTT 0.433000 5 41 0 0 0.217242 0 0 MCTP2 55784 broad.mit.edu 37 15 94913372 94913372 + Silent SNP T T G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr15:94913372T>G ENST00000357742.4 + 11 1545 c.1545T>G c.(1543-1545)gtT>gtG p.V515V MCTP2_ENST00000331706.4_Silent_p.V103V|MCTP2_ENST00000557742.1_Silent_p.V103V|MCTP2_ENST00000451018.3_Silent_p.V515V NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 515 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AAGTGAAGGTTTTAAAGGCAG 0.373000 7 26 0 0 0.307466 0 0 PDXK 8566 broad.mit.edu 37 21 45170412 45170412 + Nonsense_Mutation SNP G G T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr21:45170412G>T ENST00000291565.4 + 7 679 c.496G>T c.(496-498)Gag>Tag p.E166* PDXK_ENST00000467908.1_Nonsense_Mutation_p.E126*|PDXK_ENST00000468090.1_Nonsense_Mutation_p.E138* NM_003681.4 NP_003672.1 O00764 PDXK_HUMAN pyridoxal (pyridoxine, vitamin B6) kinase 166 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) CCACAGCCAGGAGGAAGCCTT 0.652000 6 27 5.18039e-06 5.35991e-06 0.278610 1 0 EMX1 2016 broad.mit.edu 37 2 73160942 73160942 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:73160942G>A ENST00000258106.6 + 3 1110 c.732G>A c.(730-732)agG>agA p.R244R EMX1_ENST00000394111.5_3'UTR NM_004097.2 NP_004088.2 Q04741 EMX1_HUMAN empty spiracles homeobox 1 211 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(2)|lung(3) 6 AGAACCGGAGGACAAAGTACA 0.607000 28 10 0 0 0.706142 0 0 LATS1 9113 broad.mit.edu 37 6 150001017 150001017 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr6:150001017G>C ENST00000543571.1 - 5 3134 c.2587C>G c.(2587-2589)Cag>Gag p.Q863E LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.Q863E NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 863 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TTACCACTCTGATAGTACTTA 0.313000 15 21 0 0 0.479597 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 2 14 0 0 0.115264 0 0 BFAR 51283 broad.mit.edu 37 16 14748942 14748942 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr16:14748942G>A ENST00000261658.2 + 5 935 c.658G>A c.(658-660)Gag>Aag p.E220K BFAR_ENST00000563971.1_Missense_Mutation_p.E95K|BFAR_ENST00000426842.2_Missense_Mutation_p.E92K NM_016561.2 NP_057645.1 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 220 SAM. anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 AACTTTGACAGAGGAAGAATT 0.443000 19 101 0 0 0.592651 0 0 FAM189B 10712 broad.mit.edu 37 1 155218018 155218018 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:155218018C>G ENST00000361361.2 - 11 2165 c.1656G>C c.(1654-1656)gaG>gaC p.E552D FAM189B_ENST00000368368.3_Missense_Mutation_p.E534D|FAM189B_ENST00000350210.2_Missense_Mutation_p.E456D NM_006589.2 NP_006580.2 P81408 F189B_HUMAN family with sequence similarity 189, member B 552 integral to membrane WW domain binding breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGCGCCGTTTCTCGGCTGACC 0.652000 14 12 0 0 0.479597 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886493 228886493 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:228886493C>T ENST00000392056.3 - 6 677 c.631G>A c.(631-633)Gag>Aag p.E211K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E211K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 211 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AAGTCTTCCTCGATTGAAGAT 0.468000 26 33 0 0 0.693898 0 0 CYP2F1 1572 broad.mit.edu 37 19 41631523 41631523 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr19:41631523C>T ENST00000331105.2 + 9 1350 c.1278C>T c.(1276-1278)ttC>ttT p.F426F NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 426 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 GTCCAGCCTTCATGCCCTTCT 0.527000 10 95 0 0 0.729181 0 0 TTN 7273 broad.mit.edu 37 2 179438341 179438341 + Missense_Mutation SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:179438341A>G ENST00000589042.1 - 326 72742 c.72518T>C c.(72517-72519)gTa>gCa p.V24173A TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V21605A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V15233A|TTN_ENST00000342175.6_Missense_Mutation_p.V15300A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V22532A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V15108A|TTN-AS1_ENST00000586707.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22532 Ig-like 121. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCTGAGGCTACATTTGTCCA 0.408000 137 51 0 0 0.870114 0 0 FAM71F2 346653 broad.mit.edu 37 7 128317840 128317840 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr7:128317840G>A ENST00000480462.1 + 3 694 c.588G>A c.(586-588)aaG>aaA p.K196K FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Silent_p.K187K Q6NXP2 F71F2_HUMAN family with sequence similarity 71, member F2 196 p.K196N(1) NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2) 7 TGGTGCCCAAGATGCCCACCA 0.453000 23 21 0 0 0.654019 0 0 USH2A 7399 broad.mit.edu 37 1 215955497 215955497 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:215955497G>A ENST00000366943.2 - 54 11013 c.10627C>T c.(10627-10629)Cgt>Tgt p.R3543C USH2A_ENST00000307340.3_Missense_Mutation_p.R3543C O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3543 Fibronectin type-III 20. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCCCGAAAACGTTCAATTCCA 0.373000 HNSCC(13;0.011) 6 32 0 0 0.217242 0 0 AAK1 22848 broad.mit.edu 37 2 69759277 69759277 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:69759277C>T ENST00000409085.4 - 6 928 c.552G>A c.(550-552)ttG>ttA p.L184L AAK1_ENST00000406297.3_Silent_p.L184L|AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000409068.1_Silent_p.L184L NM_014911.3 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 184 Protein kinase. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1) 17 CTCGGTCATGCAAGAGGATGT 0.413000 10 25 0 0 0.335167 0 0 COPB2 9276 broad.mit.edu 37 3 139085454 139085454 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:139085454G>A ENST00000333188.5 - 15 2021 c.1840C>T c.(1840-1842)Cca>Tca p.P614S COPB2_ENST00000507777.1_Missense_Mutation_p.P585S NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) 614 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 TGTTCTTTTGGAATGGTAGGA 0.403000 6 34 0 0 0.248553 0 0 CCNK 8812 broad.mit.edu 37 14 99967695 99967695 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr14:99967695G>C ENST00000389879.5 + 6 643 c.520G>C c.(520-522)Gat>Cat p.D174H CCNK_ENST00000557165.1_Intron|CCNK_ENST00000555049.1_Missense_Mutation_p.D174H NM_001099402.1 NP_001092872.1 O75909 CCNK_HUMAN cyclin K 174 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding NS(1)|endometrium(2)|lung(3) 6 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) ATTTCTAGGTGATAAAAACAA 0.313000 9 15 0 0 0.335167 0 0 POMGNT2 84892 broad.mit.edu 37 3 43122017 43122017 + Nonsense_Mutation SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:43122017C>A ENST00000344697.2 - 2 1252 c.907G>T c.(907-909)Gag>Tag p.E303* POMGNT2_ENST00000441964.1_Nonsense_Mutation_p.E303* NM_032806.5 NP_116195.2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) AGCTCTGCCTCATTCAGAATG 0.552000 23 80 6.44725e-10 6.94575e-10 0.624587 1 0 OR51S1 119692 broad.mit.edu 37 11 4869844 4869844 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:4869844C>G ENST00000322101.2 - 1 670 c.595G>C c.(595-597)Gaa>Caa p.E199Q MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CCCCAAGCTTCTGGGCAGGCC 0.542000 29 36 0 0 0.750413 0 0 RSRC2 65117 broad.mit.edu 37 12 123005942 123005942 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:123005942C>G ENST00000331738.7 - 3 342 c.197G>C c.(196-198)aGa>aCa p.R66T RSRC2_ENST00000354654.2_Missense_Mutation_p.E11Q NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 66 Ser-rich. breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) CTCTTTGCTTCTGCTCCGGCT 0.318000 16 32 0 0 0.539581 0 0 YY1AP1 55249 broad.mit.edu 37 1 155646459 155646459 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:155646459C>G ENST00000368340.5 - 4 726 c.618G>C c.(616-618)aaG>aaC p.K206N YY1AP1_ENST00000368339.5_Missense_Mutation_p.K206N|YY1AP1_ENST00000311573.5_Missense_Mutation_p.K57N|YY1AP1_ENST00000438245.2_Missense_Mutation_p.K68N|YY1AP1_ENST00000359205.5_Missense_Mutation_p.K57N|YY1AP1_ENST00000355499.4_Missense_Mutation_p.K68N|YY1AP1_ENST00000368330.2_Missense_Mutation_p.K68N|YY1AP1_ENST00000404643.1_Missense_Mutation_p.K68N|YY1AP1_ENST00000535662.1_5'UTR|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000405763.3_Missense_Mutation_p.K206N|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.K68N|YY1AP1_ENST00000407221.1_Missense_Mutation_p.K57N|YY1AP1_ENST00000361831.5_Missense_Mutation_p.K57N|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000295566.4_Missense_Mutation_p.K134N NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CTGAAGGTTTCTTCATCTTCA 0.458000 18 59 0 0 0.592651 0 0 DCT 1638 broad.mit.edu 37 13 95114290 95114290 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:95114290G>A ENST00000377028.5 - 5 1430 c.1017C>T c.(1015-1017)ttC>ttT p.F339F DCT_ENST00000446125.1_Silent_p.F339F NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 339 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) AGTTCTGGAAGAAGGGAGGAT 0.448000 12 37 0 0 0.387290 0 0 KLHL40 131377 broad.mit.edu 37 3 42727789 42727789 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:42727789C>T ENST00000287777.4 + 1 779 c.679C>T c.(679-681)Cgc>Tgc p.R227C NM_152393.2 NP_689606.2 kelch-like family member 40 CGTGCGCTGCCGCTTGCTGCC 0.706000 7 4 0 0 0.248553 0 0 SCUBE3 222663 broad.mit.edu 37 6 35207570 35207570 + Missense_Mutation SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr6:35207570A>G ENST00000274938.7 + 8 871 c.871A>G c.(871-873)Att>Gtt p.I291V SCUBE3_ENST00000394681.1_Missense_Mutation_p.I307V NM_152753.2 NP_689966.2 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 291 EGF-like 7; calcium-binding (Potential). protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 CTGTGACCATATTTGCCGCAA 0.463000 3 75 0 0 0.150653 0 0 OSBP 5007 broad.mit.edu 37 11 59376031 59376031 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:59376031C>T ENST00000263847.1 - 3 1227 c.748G>A c.(748-750)Gag>Aag p.E250K NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 250 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TCATTGCTCTCAGCAGGCAAC 0.488000 38 45 0 0 0.812448 0 0 NR4A3 8013 broad.mit.edu 37 9 102590691 102590691 + Missense_Mutation SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr9:102590691C>A ENST00000330847.1 + 2 444 c.400C>A c.(400-402)Ccg>Acg p.P134T NR4A3_ENST00000395097.2_Missense_Mutation_p.P123T|NR4A3_ENST00000338488.4_Missense_Mutation_p.P123T Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) AGCCTCCAGCCCGGAGGACGA 0.672000 T EWSR1 extraskeletal myxoid chondrosarcoma 38 0 1.52319e-26 1.66673e-26 0.840704 1 0 RGPD4 285190 broad.mit.edu 37 2 108487551 108487551 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:108487551G>A ENST00000408999.3 + 20 3168 c.3091G>A c.(3091-3093)Gag>Aag p.E1031K RGPD4_ENST00000354986.4_Missense_Mutation_p.E1031K NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1031 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 CTATAAGACTGAGGACAGCGA 0.393000 60 148 0 0 0.870114 0 0 CYP46A1 10858 broad.mit.edu 37 14 100157446 100157446 + Missense_Mutation SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr14:100157446T>C ENST00000261835.3 + 2 252 c.148T>C c.(148-150)Tgg>Cgg p.W50R CYP46A1_ENST00000423126.2_5'UTR NM_006668.1 NP_006659.1 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 50 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) CCCCTGCTTTTGGAAAAAGGA 0.483000 38 58 0 0 0.834066 0 0 FLG 2312 broad.mit.edu 37 1 152286242 152286242 + Nonsense_Mutation SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:152286242C>A ENST00000368799.1 - 3 1155 c.1120G>T c.(1120-1122)Gaa>Taa p.E374* FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 374 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTGCCTGTTCATGGGATGAT 0.567000 Ichthyosis 143 385 1.02779e-63 1.13056e-63 0.870114 1 0 FARP2 9855 broad.mit.edu 37 2 242373728 242373728 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:242373728C>G ENST00000264042.3 + 10 1193 c.1023C>G c.(1021-1023)ttC>ttG p.F341L FARP2_ENST00000545004.1_Missense_Mutation_p.F341L|FARP2_ENST00000373287.4_Missense_Mutation_p.F341L NM_014808.2 NP_055623.1 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 341 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GCTCCTCCTTCAGATACAGGT 0.458000 11 23 0 0 0.361761 0 0 SEMA5A 9037 broad.mit.edu 37 5 9190451 9190451 + Missense_Mutation SNP G G A rs141668225 TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:9190451G>A ENST00000382496.5 - 11 1866 c.1201C>T c.(1201-1203)Cgc>Tgc p.R401C NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 401 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 TGGGAAAAGCGGCTATTGTCC 0.567000 26 69 0 0 0.693898 0 0 PXDN 7837 broad.mit.edu 37 2 1652232 1652232 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:1652232C>G ENST00000252804.4 - 17 3370 c.3320G>C c.(3319-3321)cGg>cCg p.R1107P NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1107 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ATTCACAATCCGGAAGGGAGA 0.587000 14 22 0 0 0.457914 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351556 89351556 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr16:89351556C>T ENST00000301030.4 - 9 1854 c.1394G>A c.(1393-1395)aGa>aAa p.R465K ANKRD11_ENST00000378330.2_Missense_Mutation_p.R465K NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 465 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCGAACCTCTCTGCCTtttgt 0.502000 7 26 0 0 0.248553 0 0 ANO1 55107 broad.mit.edu 37 11 70007754 70007754 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:70007754G>C ENST00000355303.5 + 18 2112 c.1807G>C c.(1807-1809)Gag>Cag p.E603Q ANO1_ENST00000398543.2_Missense_Mutation_p.E457Q|ANO1_ENST00000531349.1_Missense_Mutation_p.E312Q|ANO1_ENST00000538023.1_Missense_Mutation_p.E603Q|ANO1_ENST00000530676.1_Missense_Mutation_p.E457Q|ANO1_ENST00000316296.5_Missense_Mutation_p.E545Q NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 603 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 GAAAAGCTTTGAGGAGAGGCT 0.537000 24 93 0 0 0.717897 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432662 73432662 + Missense_Mutation SNP C C T rs146957114 TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:73432662C>T ENST00000263666.4 - 10 3169 c.3055G>A c.(3055-3057)Gaa>Aaa p.E1019K PDZRN3_ENST00000462146.2_Missense_Mutation_p.E676K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E676K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E736K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E741K NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 1019 ubiquitin-protein ligase activity|zinc ion binding p.E1019K(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TGGCTCAGTTCGAGAATGTTC 0.498000 6 315 0 0 0.217242 0 0 PDXK 8566 broad.mit.edu 37 21 45170387 45170387 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr21:45170387G>A ENST00000291565.4 + 7 654 c.471G>A c.(469-471)ctG>ctA p.L157L PDXK_ENST00000467908.1_Silent_p.L117L|PDXK_ENST00000468090.1_Silent_p.L129L NM_003681.4 NP_003672.1 O00764 PDXK_HUMAN pyridoxal (pyridoxine, vitamin B6) kinase 157 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) CCAGGTTACTGAGTGGCCGGA 0.652000 4 21 0 0 0.217242 0 0 SPACA7 122258 broad.mit.edu 37 13 113052394 113052394 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:113052394G>A ENST00000375699.3 + 2 262 c.90G>A c.(88-90)ctG>ctA p.L30L SPACA7_ENST00000283550.3_Silent_p.L61L Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 61 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 TTTTAGATCTGAATAAAACAA 0.473000 29 100 0 0 0.760397 0 0 CDH8 1006 broad.mit.edu 37 16 61851482 61851482 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr16:61851482G>A ENST00000577390.1 - 7 2132 c.1178C>T c.(1177-1179)tCa>tTa p.S393L CDH8_ENST00000299345.6_Missense_Mutation_p.S393L|CDH8_ENST00000577730.1_Missense_Mutation_p.S393L|CDH8_ENST00000584337.1_Missense_Mutation_p.S393L NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 393 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GTAAGTCGGTGAAGAGAAGAC 0.498000 19 44 0 0 0.575678 0 0 TSC1 7248 broad.mit.edu 37 9 135797300 135797300 + Missense_Mutation SNP C C G rs118203401 TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr9:135797300C>G ENST00000298552.3 - 7 790 c.569G>C c.(568-570)cGc>cCc p.R190P TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Missense_Mutation_p.R190P|TSC1_ENST00000545250.1_Missense_Mutation_p.R139P|TSC1_ENST00000403810.1_Missense_Mutation_p.R190P NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 190 R -> S. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TCCATAAAGGCGATGAAAGAG 0.458000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 32 7 0 0 0.804634 0 0 ATL3 25923 broad.mit.edu 37 11 63438838 63438838 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:63438838G>A ENST00000332645.4 - 2 125 c.126C>T c.(124-126)ccC>ccT p.P42P ATL3_ENST00000535789.1_5'UTR|ATL3_ENST00000398868.3_5'UTR|ATL3_ENST00000538786.1_Intron Q6DD88 ATLA3_HUMAN atlastin GTPase 3 0 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 11 AGAAGCAGCAGGGGTGCAGAG 0.632000 3 4 0 0 0.217242 0 0 FAM83C 128876 broad.mit.edu 37 20 33879831 33879831 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr20:33879831C>T ENST00000374408.3 - 1 373 c.277G>A c.(277-279)Gag>Aag p.E93K NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 93 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) CCCTGAGCCTCGCTGAGCTCA 0.662000 11 41 0 0 0.387290 0 0 SNORA71C 677839 broad.mit.edu 37 20 37058338 37058338 + RNA SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr20:37058338G>A ENST00000364642.1 - 0 108 NR_003017.2 GGGTTTGGAAGAGACAGGAGT 0.577000 18 50 0 0 0.520397 0 0 GBP7 388646 broad.mit.edu 37 1 89598973 89598973 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:89598973C>G ENST00000294671.2 - 10 1768 c.1630G>C c.(1630-1632)Gaa>Caa p.E544Q NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 544 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TTTCTCAGTTCTCTCATATAG 0.448000 33 61 0 0 0.834066 0 0 ACR 49 broad.mit.edu 37 22 51182532 51182532 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:51182532C>T ENST00000216139.5 + 4 649 c.609C>T c.(607-609)ctC>ctT p.L203L NM_001097.2 NP_001088.2 P10323 ACRO_HUMAN acrosin 203 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) GTGTGGATCTCATCGACCTGG 0.567000 43 108 0 0 0.870114 0 0 KMT2C 58508 broad.mit.edu 37 7 151834007 151834007 + Silent SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr7:151834007G>C ENST00000355193.2 - 60 15035 c.14817C>G c.(14815-14817)ctC>ctG p.L4939L KMT2C_ENST00000262189.6_Silent_p.L4882L|KMT2C_ENST00000485655.2_Silent_p.L87L lysine (K)-specific methyltransferase 2C AGTCATAGCAGAGCTGCCCAC 0.473000 18 54 0 0 0.539581 0 0 SORCS3 22986 broad.mit.edu 37 10 106916944 106916944 + Nonsense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr10:106916944C>T ENST00000369701.3 + 10 1758 c.1531C>T c.(1531-1533)Cag>Tag p.Q511* NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 511 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGTGGACGACCAGGTGAAGAC 0.522000 26 35 0 0 0.693898 0 0 HERC2P2 400322 broad.mit.edu 37 15 23300033 23300033 + RNA SNP T T C rs1058831 by1000genomes TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr15:23300033T>C ENST00000560464.1 - 0 4254 CGGGAACGGGTGACTGCTTGC 0.592000 5 38 0 0 0.335167 0 0 PDGFB 5155 broad.mit.edu 37 22 39626222 39626222 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:39626222G>A ENST00000331163.6 - 5 1255 c.468C>T c.(466-468)atC>atT p.I156I PDGFB_ENST00000381551.4_Silent_p.I141I NM_002608.2 NP_002599.1 P01127 PDGFB_HUMAN platelet-derived growth factor beta polypeptide 156 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(429) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Melanoma(58;0.04) Becaplermin(DB00102) GCACAATCTCGATCTTTCTCA 0.582000 T COL1A1 DFSP 16 37 0 0 0.539581 0 0 VPS13D 55187 broad.mit.edu 37 1 12463960 12463960 + Silent SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:12463960C>G ENST00000358136.3 + 63 12094 c.11964C>G c.(11962-11964)ctC>ctG p.L3988L VPS13D_ENST00000356315.4_Silent_p.L3963L|VPS13D_ENST00000496628.1_3'UTR NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3987 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTGAAAATCTCAAAATCAGCA 0.388000 11 30 0 0 0.411799 0 0 SMAP2 64744 broad.mit.edu 37 1 40882742 40882742 + Nonsense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:40882742C>T ENST00000539317.1 + 9 1091 c.898C>T c.(898-900)Cag>Tag p.Q300* NM_001198980.1 NP_001185909.1 Q8WU79 SMAP2_HUMAN small ArfGAP2 380 Met-rich. regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) CCAGCCAGCTCAGCAGCTGCA 0.522000 10 27 0 0 0.435327 0 0 CDK19 23097 broad.mit.edu 37 6 110943360 110943360 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr6:110943360G>A ENST00000368911.3 - 11 1220 c.1041C>T c.(1039-1041)gcC>gcT p.A347A CDK19_ENST00000413605.2_Silent_p.A223A|CDK19_ENST00000323817.3_Silent_p.A287A NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 347 ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 TCTGGCAGCCGGCAAATACAC 0.318000 3 73 0 0 0.150653 0 0 GLYCTK 132158 broad.mit.edu 37 3 52325777 52325777 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:52325777C>G ENST00000436784.2 + 4 604 c.544C>G c.(544-546)Ctg>Gtg p.L182V GLYCTK_ENST00000477382.1_Intron|GLYCTK_ENST00000471180.1_Missense_Mutation_p.L55V|GLYCTK_ENST00000473032.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000461183.1_Missense_Mutation_p.L98V|GLYCTK_ENST00000305690.8_Missense_Mutation_p.L182V|GLYCTK_ENST00000354773.4_Intron Q8IVS8 GLCTK_HUMAN glycerate kinase 182 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) GGGTTCAGCTCTGCTGCCTGC 0.577000 OREG0015611 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 83 0 0 0.639603 0 0 CEND1 51286 broad.mit.edu 37 11 788279 788279 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:788279C>T ENST00000330106.4 - 2 473 c.298G>A c.(298-300)Ggg>Agg p.G100R CEND1_ENST00000524587.1_5'UTR NM_016564.3 NP_057648.2 Q8N111 CEND_HUMAN cell cycle exit and neuronal differentiation 1 100 integral to membrane prostate(1) 1 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCCTCCGCCCCGTCCCCAGGA 0.692000 6 8 0 0 0.217242 0 0 PRAMEF20 645425 broad.mit.edu 37 1 13743051 13743051 + Silent SNP T T A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:13743051T>A ENST00000316412.5 + 2 339 c.240T>A c.(238-240)gcT>gcA p.A80A PRAMEF20_ENST00000602960.1_Silent_p.A80A NM_001099852.1 NP_001093322.1 Q5VT98 PRA20_HUMAN PRAME family member 20 80 endometrium(1)|kidney(1)|large_intestine(1)|ovary(1) 4 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTTCCAAGCTGTGCTCGATG 0.607000 26 31 0 0 0.693898 0 0 GRM2 2912 broad.mit.edu 37 3 51746586 51746586 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:51746586G>A ENST00000395052.3 + 3 782 c.548G>A c.(547-549)cGc>cAc p.R183H GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R183H NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 183 synaptic transmission integral to plasma membrane p.R183H(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TACTTTGCCCGCACAGTGCCT 0.542000 4 177 0 0 0.150653 0 0 ZNF208 7757 broad.mit.edu 37 19 22155504 22155504 + Missense_Mutation SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr19:22155504T>C ENST00000397126.4 - 4 2480 c.2332A>G c.(2332-2334)Aaa>Gaa p.K778E ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TCTTCACATTTGTAGGGTTTC 0.368000 3 26 0 0 0.115264 0 0 OTX1 5013 broad.mit.edu 37 2 63282824 63282824 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:63282824C>T ENST00000282549.2 + 5 714 c.438C>T c.(436-438)tcC>tcT p.S146S OTX1_ENST00000366671.3_Silent_p.S146S NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 146 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) CCAGCTCTTCCGCCAACCCAG 0.677000 14 22 0 0 0.500413 0 0 ERC2 26059 broad.mit.edu 37 3 56026169 56026169 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:56026169G>A ENST00000288221.6 - 11 2426 c.2171C>T c.(2170-2172)gCg>gTg p.A724V NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 724 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTCCACTTCCGCTTGGGCCTT 0.478000 98 103 0 0 0.870114 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 2 14 0 0 0.115264 0 0 MBD6 114785 broad.mit.edu 37 12 57918191 57918191 + Silent SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:57918191C>G ENST00000355673.3 + 3 461 c.105C>G c.(103-105)ctC>ctG p.L35L MBD6_ENST00000431731.2_Silent_p.L35L|MBD6_ENST00000549231.1_3'UTR NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 35 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 GTGCTGTGCTCTACATCAGGT 0.587000 6 41 0 0 0.248553 0 0 EIF3I 8668 broad.mit.edu 37 1 32691917 32691917 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:32691917G>C ENST00000373586.1 + 5 468 c.396G>C c.(394-396)caG>caC p.Q132H EIF3I_ENST00000471486.1_3'UTR NM_003757.2 NP_003748.1 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, subunit I 132 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) ATCCGAGCCAGATTGGTGAGG 0.542000 24 72 0 0 0.667858 0 0 MLEC 9761 broad.mit.edu 37 12 121132930 121132930 + Silent SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:121132930C>G ENST00000228506.3 + 4 1052 c.624C>G c.(622-624)ctC>ctG p.L208L MLEC_ENST00000412616.2_Intron NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 208 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 TCTGTGCACTCTACATCATGG 0.498000 27 231 0 0 0.667858 0 0 EIF3I 8668 broad.mit.edu 37 1 32692108 32692108 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:32692108G>C ENST00000373586.1 + 6 577 c.505G>C c.(505-507)Gag>Cag p.E169Q EIF3I_ENST00000471486.1_3'UTR NM_003757.2 NP_003748.1 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, subunit I 169 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) TGAGAGTGGAGAGCTCAACCA 0.473000 52 155 0 0 0.870114 0 0 MAN1C1 57134 broad.mit.edu 37 1 25944326 25944326 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:25944326C>T ENST00000374332.4 + 1 368 c.38C>T c.(37-39)tCc>tTc p.S13F NM_020379.2 NP_065112.1 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 13 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) GTCCCGGCCTCCCCGTGGGGG 0.701000 10 14 0 0 0.387290 0 0 STK10 6793 broad.mit.edu 37 5 171472003 171472003 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:171472003C>G ENST00000176763.5 - 19 3133 c.2790G>C c.(2788-2790)caG>caC p.Q930H NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 930 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCCGCTTCTTCTGGTTCAGAT 0.587000 13 35 0 0 0.435327 0 0 CDK15 65061 broad.mit.edu 37 2 202698639 202698639 + Silent SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:202698639G>C ENST00000450471.2 + 7 761 c.675G>C c.(673-675)ctG>ctC p.L225L CDK15_ENST00000434439.1_Silent_p.L225L|CDK15_ENST00000260967.2_Silent_p.L174L|CDK15_ENST00000374598.4_Silent_p.L225L|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000410091.3_Silent_p.L174L NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 225 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) ACAGGGACCTGAAACCTCAGA 0.493000 27 55 0 0 0.750413 0 0 STAG3L1 54441 broad.mit.edu 37 7 75023531 75023531 + RNA SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr7:75023531C>T ENST00000402225.5 + 0 811 AC006014.8_ENST00000275590.5_RNA P0CL83 ST3L1_HUMAN nucleus binding AGCTCCTACTCTGAATTTACC 0.458000 5 17 0 0 0.335167 0 0 ROBO1 6091 broad.mit.edu 37 3 78666910 78666910 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:78666910C>T ENST00000436010.2 - 25 5037 c.4040G>A c.(4039-4041)gGa>gAa p.G1347E ROBO1_ENST00000495273.1_Missense_Mutation_p.G1341E|ROBO1_ENST00000464233.1_Missense_Mutation_p.G1386E|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1286E Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1386 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) ACTGGAGCGTCCGCTGGAAAT 0.577000 9 30 0 0 0.335167 0 0 SLC1A4 6509 broad.mit.edu 37 2 65245358 65245358 + Silent SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:65245358C>G ENST00000234256.3 + 6 1431 c.1188C>G c.(1186-1188)ctC>ctG p.L396L SLC1A4_ENST00000531327.1_Silent_p.L98L NM_003038.4 NP_003029.2 P43007 SATT_HUMAN solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 396 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1) 13 L-Alanine(DB00160) TTGCGCAACTCAACAACGTAG 0.498000 11 96 0 0 0.411799 0 0 AHDC1 27245 broad.mit.edu 37 1 27876618 27876618 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:27876618C>T ENST00000374011.2 - 6 2977 c.2009G>A c.(2008-2010)gGc>gAc p.G670D AHDC1_ENST00000247087.5_Missense_Mutation_p.G670D NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 670 Gly-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GCCTGCTTTGCCCCCACGCCG 0.642000 3 50 0 0 0.150653 0 0 CHRM1 1128 broad.mit.edu 37 11 62677566 62677566 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:62677566C>T ENST00000306960.3 - 2 1548 c.1007G>A c.(1006-1008)cGa>cAa p.R336Q AP000438.2_ENST00000543624.1_RNA NM_000738.2 NP_000729.2 P11229 ACM1_HUMAN cholinergic receptor, muscarinic 1 336 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding large_intestine(5)|lung(3)|stomach(1) 9 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209) CTTGCCAGCTCGATCACGCCC 0.627000 12 15 0 0 0.435327 0 0 SCN8A 6334 broad.mit.edu 37 12 52200727 52200727 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:52200727C>T ENST00000354534.6 + 27 5635 c.5457C>T c.(5455-5457)ctC>ctT p.L1819L SCN8A_ENST00000545061.1_Silent_p.L1778L NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AGCATCCTCTCCGAGTGCCCA 0.527000 42 47 0 0 0.834066 0 0 MECOM 2122 broad.mit.edu 37 3 169099220 169099220 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:169099220G>A ENST00000494292.1 - 2 227 c.130C>T c.(130-132)Caa>Taa p.Q44* MECOM_ENST00000485957.1_5'UTR NM_004991.3 NP_004982.2 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 44 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CATGGCTCTTGAATATTGAGG 0.473000 4 35 0 0 0.150653 0 0 ADARB2 105 broad.mit.edu 37 10 1405390 1405390 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr10:1405390G>A ENST00000381312.1 - 3 1235 c.910C>T c.(910-912)Cgg>Tgg p.R304W NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 304 DRBM 2. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) ACGAAGCTCCGCGCGCGCCGC 0.756000 7 7 0 0 0.278610 0 0 CCT8 10694 broad.mit.edu 37 21 30435690 30435690 + Silent SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr21:30435690A>G ENST00000286788.4 - 8 1130 c.924T>C c.(922-924)taT>taC p.Y308Y CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.Y289Y|CCT8_ENST00000540844.1_Silent_p.Y235Y NM_006585.2 NP_006576.2 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 308 '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 ACATGATATTATATTTATTTG 0.348000 25 32 0 0 0.693898 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072820 17072820 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:17072820C>T ENST00000359963.3 - 1 880 c.621G>A c.(619-621)gcG>gcA p.A207A NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 207 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.A207A(2) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCCCGGGCAGCGCGCACACCC 0.617000 37 63 0 0 0.812448 0 0 ATRX 546 broad.mit.edu 37 X 76939532 76939532 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chrX:76939532G>C ENST00000373344.5 - 9 1430 c.1216C>G c.(1216-1218)Cat>Gat p.H406D ATRX_ENST00000395603.3_Missense_Mutation_p.H368D|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 406 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AATGCAAGATGAGCCTTCTTA 0.358000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 71 87 0 0 0.870114 0 0 MBOAT7 79143 broad.mit.edu 37 19 54692145 54692145 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr19:54692145G>A ENST00000431666.2 - 3 679 c.40C>T c.(40-42)Cac>Tac p.H14Y MBOAT7_ENST00000391754.1_Silent_p.F44F|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Missense_Mutation_p.H14Y|MBOAT7_ENST00000245615.1_Silent_p.F44F NM_001146083.1 NP_001139555.1 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 0 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGCCACAGGTGAACAGGGTGA 0.627000 15 44 0 0 0.457914 0 0 TTN 7273 broad.mit.edu 37 2 179456530 179456530 + Missense_Mutation SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:179456530C>A ENST00000589042.1 - 303 60240 c.60016G>T c.(60016-60018)Ggt>Tgt p.G20006C TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17438C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11066C|TTN_ENST00000342175.6_Missense_Mutation_p.G11133C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G18365C|TTN_ENST00000460472.2_Missense_Mutation_p.G10941C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18365 Fibronectin type-III 44. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTGGAGAACCACCATCACGA 0.458000 7 24 0.0381472 0.0387028 0.278610 1 0 TBCE 6905 broad.mit.edu 37 1 235577915 235577915 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:235577915C>G ENST00000543662.1 + 4 459 c.353C>G c.(352-354)tCt>tGt p.S118C TBCE_ENST00000406207.1_Missense_Mutation_p.S118C|TBCE_ENST00000366601.3_Missense_Mutation_p.S118C|TBCE_ENST00000472011.1_3'UTR Q15813 TBCE_HUMAN tubulin folding cofactor E 118 '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) GGTTTTGACTCTATTATGAAA 0.358000 15 20 0 0 0.500413 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19473505 19473505 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:19473505G>C ENST00000538714.1 + 15 2033 c.2029G>C c.(2029-2031)Gat>Cat p.D677H PLEKHA5_ENST00000429027.2_Missense_Mutation_p.D722H|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.D619H|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.D677H|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.D619H|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.D377H|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.D550H|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.D619H|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.D538H NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 665 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GCTGTCACAAGATGAAGGTAG 0.264000 14 126 0 0 0.435327 0 0 MROH8 140699 broad.mit.edu 37 20 35766314 35766314 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr20:35766314G>A ENST00000400441.3 - 13 1547 c.1548C>T c.(1546-1548)gtC>gtT p.V516V MROH8_ENST00000441008.2_Silent_p.V502V|MROH8_ENST00000217333.8_Silent_p.V345V maestro heat-like repeat family member 8 TTTGTTGGCGGACTCTAGGCT 0.408000 5 16 0 0 0.184627 0 0 B4GALNT4 338707 broad.mit.edu 37 11 380870 380870 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:380870C>G ENST00000329962.6 + 19 2915 c.2915C>G c.(2914-2916)tCg>tGg p.S972W NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 972 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATCTACAAGTCGGACTTTGAC 0.612000 9 19 0 0 0.307466 0 0 CARF 79800 broad.mit.edu 37 2 203831743 203831743 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:203831743G>A ENST00000402905.3 + 9 1196 c.875G>A c.(874-876)aGa>aAa p.R292K CARF_ENST00000414439.1_Missense_Mutation_p.R190K|CARF_ENST00000545262.1_Missense_Mutation_p.R216K|CARF_ENST00000428585.1_Missense_Mutation_p.R216K|CARF_ENST00000320443.8_Missense_Mutation_p.R292K|WDR12_ENST00000477723.1_Intron|CARF_ENST00000456821.2_3'UTR|CARF_ENST00000438828.2_Missense_Mutation_p.R292K|CARF_ENST00000545253.1_Missense_Mutation_p.R204K NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1 NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1 calcium responsive transcription factor GGGCCAAGAAGAAAAGGTTTC 0.408000 27 59 0 0 0.740014 0 0 PXDN 7837 broad.mit.edu 37 2 1652231 1652231 + Silent SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:1652231C>A ENST00000252804.4 - 17 3371 c.3321G>T c.(3319-3321)cgG>cgT p.R1107R NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1107 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CATTCACAATCCGGAAGGGAG 0.587000 13 21 1.5842e-08 1.68927e-08 0.435327 1 0 MAGEC1 9947 broad.mit.edu 37 X 140993970 140993970 + Silent SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chrX:140993970T>C ENST00000285879.4 + 4 1066 c.780T>C c.(778-780)ttT>ttC p.F260F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 260 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGAGTACTTTTGAGGGTTTTG 0.498000 HNSCC(15;0.026) 5 87 0 0 0.217242 0 0 CECR2 27443 broad.mit.edu 37 22 17976471 17976471 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:17976471C>T ENST00000400573.5 + 3 199 c.192C>T c.(190-192)atC>atT p.I64I CECR2_ENST00000262608.8_Silent_p.I45I|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000342247.5_Silent_p.I44I Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AGGACATCATCAACTACCGCT 0.522000 4 22 0 0 0.150653 0 0 POGK 57645 broad.mit.edu 37 1 166819004 166819004 + Silent SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:166819004G>C ENST00000367875.1 + 5 1548 c.1188G>C c.(1186-1188)ctG>ctC p.L396L POGK_ENST00000367876.4_Silent_p.L396L|POGK_ENST00000536514.1_Silent_p.L311L|POGK_ENST00000537173.1_Silent_p.L278L Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 396 DDE. multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 GGGAAAAACTGAAAATCACAG 0.498000 12 34 0 0 0.411799 0 0 VPS53 55275 broad.mit.edu 37 17 465901 465901 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:465901G>A ENST00000437048.2 - 14 1544 c.1398C>T c.(1396-1398)gcC>gcT p.A466A VPS53_ENST00000446250.2_Silent_p.A268A|VPS53_ENST00000291074.5_Silent_p.A437A|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Silent_p.A189A|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000571805.1_Silent_p.A466A NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 466 A -> T (in Ref. 2; AAK27973). protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) TGGGGAGCACGGCACCCCCTT 0.552000 23 5 0 0 0.667858 0 0 TRIM71 131405 broad.mit.edu 37 3 32932410 32932410 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:32932410G>C ENST00000383763.5 + 4 1777 c.1714G>C c.(1714-1716)Gag>Cag p.E572Q NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCAGCACATTGAGAACAGCCC 0.582000 21 86 0 0 0.608945 0 0 TMEM71 137835 broad.mit.edu 37 8 133726281 133726281 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:133726281G>C ENST00000356838.3 - 9 917 c.775C>G c.(775-777)Ctc>Gtc p.L259V TMEM71_ENST00000377901.4_Missense_Mutation_p.L215V|TMEM71_ENST00000523829.1_Intron NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 278 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GCAAGGCTGAGAAACAATGAT 0.363000 4 34 0 0 0.184627 0 0 CLCNKB 1188 broad.mit.edu 37 1 16375547 16375547 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:16375547G>A ENST00000375667.3 + 1 264 c.81G>A c.(79-81)tgG>tgA p.W27* CLCNKB_ENST00000375679.4_Intron NM_001165945.2 NP_001159417.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) AGGTGACATGGGGAGGGGGTC 0.672000 3 46 0 0 0.150653 0 0 ZNF829 374899 broad.mit.edu 37 19 37383084 37383084 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr19:37383084C>G ENST00000520965.1 - 6 918 c.852G>C c.(850-852)caG>caC p.Q284H ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.Q203H NM_001171979.1 NP_001165450.1 Q3KNS6 ZN829_HUMAN zinc finger protein 829 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGTGAATCCTCTGATGTCGAG 0.383000 14 43 0 0 0.479597 0 0 FBXO42 54455 broad.mit.edu 37 1 16641859 16641859 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:16641859C>G ENST00000375592.3 - 2 271 c.55G>C c.(55-57)Gaa>Caa p.E19Q FBXO42_ENST00000478089.1_5'UTR NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 19 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) AGCACAGTTTCTTCCTGGTCC 0.483000 12 28 0 0 0.435327 0 0 ASB17 127247 broad.mit.edu 37 1 76397769 76397769 + Missense_Mutation SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:76397769A>G ENST00000284142.6 - 1 347 c.208T>C c.(208-210)Tac>Cac p.Y70H NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 70 intracellular signal transduction breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 AATGCAATGTAATCTGTGAGT 0.388000 11 61 0 0 0.435327 0 0 CCDC65 85478 broad.mit.edu 37 12 49315100 49315100 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:49315100C>G ENST00000266984.5 + 8 1556 c.1329C>G c.(1327-1329)atC>atG p.I443M RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.I443M Q8IXS2 CCD65_HUMAN coiled-coil domain containing 65 443 breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 15 TGGATGGCATCTCAGTGAGTG 0.498000 14 49 0 0 0.479597 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28520378 28520378 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:28520378C>G ENST00000383768.2 + 5 754 c.566C>G c.(565-567)tCt>tGt p.S189C ZCWPW2_ENST00000421010.1_Missense_Mutation_p.S189C Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 189 zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2) 17 TATGGATATTCTCATGAGCAA 0.294000 7 40 0 0 0.307466 0 0 KRT37 8688 broad.mit.edu 37 17 39580632 39580632 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:39580632G>A ENST00000225550.3 - 1 143 c.144C>T c.(142-144)aaC>aaT p.N48N AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 48 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CGTGTGCCACGTTGGCCAAGA 0.617000 4 92 0 0 0.150653 0 0 PPP1R3B 79660 broad.mit.edu 37 8 8998846 8998846 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:8998846C>G ENST00000310455.3 - 2 466 c.316G>C c.(316-318)Gag>Cag p.E106Q PPP1R3B_ENST00000519699.1_Missense_Mutation_p.E106Q NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 106 glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) CTCTCGCTCTCTGCTGTCGTC 0.483000 33 58 0 0 0.760397 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44612265 44612265 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:44612265G>A ENST00000273320.3 + 6 2092 c.1663G>A c.(1663-1665)Gaa>Aaa p.E555K RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.E555K|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 TGAGTGTAGTGAATGTGGCAA 0.438000 13 82 0 0 0.411799 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153309655 153309655 + Splice_Site SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:153309655A>G ENST00000368739.3 - 8 1290 c.e8+1 PGLYRP4_ENST00000359650.5_Splice_Site Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GCATCCACTTACCTGTGAAGG 0.507000 46 31 0 0 0.870114 0 0 TM6SF1 53346 broad.mit.edu 37 15 83776474 83776474 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr15:83776474C>T ENST00000322019.9 + 1 316 c.42C>T c.(40-42)ctC>ctT p.L14L TM6SF1_ENST00000565774.1_Silent_p.L14L|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379386.4_Silent_p.L14L|TM6SF1_ENST00000379390.6_Silent_p.L14L Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 14 integral to membrane endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 TGCTGTCCCTCTCGGCCATCC 0.736000 6 12 0 0 0.217242 0 0 ARID1A 8289 broad.mit.edu 37 1 27099981 27099981 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:27099981G>C ENST00000324856.7 + 15 4231 c.3860G>C c.(3859-3861)aGa>aCa p.R1287T ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1287T|ARID1A_ENST00000374152.2_Missense_Mutation_p.R904T NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1287 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Y1285fs*2(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCTTATGACAGAGTGAGGTAA 0.582000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 5 19 0 0 0.184627 0 0 ZMYND8 23613 broad.mit.edu 37 20 45850114 45850114 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr20:45850114G>A ENST00000311275.7 - 20 3461 c.3208C>T c.(3208-3210)Cag>Tag p.Q1070* ZMYND8_ENST00000352431.2_Nonsense_Mutation_p.Q1044*|ZMYND8_ENST00000446994.2_Nonsense_Mutation_p.Q961*|ZMYND8_ENST00000458360.2_Nonsense_Mutation_p.Q938*|ZMYND8_ENST00000372023.3_Nonsense_Mutation_p.Q992*|ZMYND8_ENST00000471951.2_Nonsense_Mutation_p.Q1090*|ZMYND8_ENST00000536340.1_Nonsense_Mutation_p.Q1097*|ZMYND8_ENST00000355972.4_Nonsense_Mutation_p.Q1070*|ZMYND8_ENST00000540497.1_Nonsense_Mutation_p.Q1018*|ZMYND8_ENST00000262975.4_Nonsense_Mutation_p.Q1024*|ZMYND8_ENST00000461685.1_Nonsense_Mutation_p.Q1044*|ZMYND8_ENST00000396281.4_Nonsense_Mutation_p.Q1070*|ZMYND8_ENST00000360911.3_Nonsense_Mutation_p.Q1019* NM_001281772.1|NM_001281778.1|NM_001281783.1 NP_001268701.1|NP_001268707.1|NP_001268712.1 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 1070 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GCTTCCTGCTGAGGAGCAGTA 0.547000 7 25 0 0 0.248553 0 0 HTRA3 94031 broad.mit.edu 37 4 8307709 8307709 + Missense_Mutation SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr4:8307709A>G ENST00000307358.2 + 9 1412 c.1208A>G c.(1207-1209)cAa>cGa p.Q403R NM_053044.3 NP_444272.1 P83110 HTRA3_HUMAN HtrA serine peptidase 3 403 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 GGCGGCATCCAAGATGGTGAC 0.647000 4 79 0 0 0.184627 0 0 HDAC11 79885 broad.mit.edu 37 3 13544448 13544448 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:13544448G>A ENST00000295757.3 + 8 800 c.617G>A c.(616-618)cGc>cAc p.R206H HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Missense_Mutation_p.R127H|HDAC11_ENST00000433119.1_Missense_Mutation_p.A164T|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000437379.2_Missense_Mutation_p.R178H|HDAC11_ENST00000522202.1_Missense_Mutation_p.R155H|HDAC11_ENST00000446613.2_Missense_Mutation_p.R14H|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404040.1_Missense_Mutation_p.R106H|HDAC11_ENST00000495099.2_3'UTR NM_024827.3 NP_079103.2 Q96DB2 HDA11_HUMAN histone deacetylase 11 206 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 GTCTACAACCGCCACATCTAC 0.577000 25 210 0 0 0.693898 0 0 PRODH 5625 broad.mit.edu 37 22 18918708 18918708 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:18918708G>A ENST00000357068.6 - 2 542 c.277C>T c.(277-279)Ctg>Ttg p.L93L PRODH_ENST00000334029.2_5'UTR|PRODH_ENST00000420436.1_Intron NM_016335.4 NP_057419 O43272 PROD_HUMAN proline dehydrogenase (oxidase) 1 93 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1) 9 L-Proline(DB00172) GAAACATACAGCAGCTGAAAG 0.547000 13 33 0 0 0.457914 0 0 LIMK1 3984 broad.mit.edu 37 7 73513430 73513430 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr7:73513430C>T ENST00000418310.1 + 5 662 c.560C>T c.(559-561)tCc>tTc p.S187F LIMK1_ENST00000538333.3_Missense_Mutation_p.S123F|LIMK1_ENST00000336180.2_Missense_Mutation_p.S157F|LIMK1_ENST00000491052.1_3'UTR P53667 LIMK1_HUMAN LIM domain kinase 1 157 PDZ. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) TCCCCTGGCTCCCACCTGCCC 0.647000 53 226 0 0 0.870114 0 0 KDM3A 55818 broad.mit.edu 37 2 86678259 86678259 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:86678259G>A ENST00000409556.1 + 5 741 c.376G>A c.(376-378)Gga>Aga p.G126R KDM3A_ENST00000542128.1_Missense_Mutation_p.G74R|KDM3A_ENST00000409064.1_Missense_Mutation_p.G126R|KDM3A_ENST00000312912.5_Missense_Mutation_p.G126R Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 126 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 AGCTGGTTTGGGATCCATAAC 0.368000 31 7 0 0 0.812448 0 0 NLRP8 126205 broad.mit.edu 37 19 56466904 56466904 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr19:56466904C>T ENST00000291971.3 + 3 1551 c.1480C>T c.(1480-1482)Cgg>Tgg p.R494W NLRP8_ENST00000590542.1_Missense_Mutation_p.R494W NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 494 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAGTATTCTTCGGAGAATTGC 0.468000 14 159 0 0 0.457914 0 0 STUB1 10273 broad.mit.edu 37 16 732417 732417 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr16:732417C>T ENST00000565677.1 + 7 1231 c.624C>T c.(622-624)ctC>ctT p.L208L JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000412368.2_3'UTR|STUB1_ENST00000564370.1_Silent_p.L208L|STUB1_ENST00000219548.4_Silent_p.L280L|JMJD8_ENST00000293882.4_3'UTR|JMJD8_ENST00000609261.1_3'UTR Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 280 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) AGGAACAGCTCATCCCCAACT 0.587000 21 52 0 0 0.575678 0 0 SCAP 22937 broad.mit.edu 37 3 47470073 47470073 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:47470073C>T ENST00000265565.5 - 4 752 c.340G>A c.(340-342)Gta>Ata p.V114I SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 114 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GAACGAAATACATCTACTGCC 0.547000 61 88 0 0 0.870114 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42848536 42848536 + Missense_Mutation SNP G G T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr21:42848536G>T ENST00000398585.3 - 8 866 c.806C>A c.(805-807)tCt>tAt p.S269Y TMPRSS2_ENST00000458356.1_Missense_Mutation_p.S232Y|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.S232Y NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 232 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) TGCTTTTGAAGAACAGGCATC 0.428000 T """ERG, ETV1, ETV4, ETV5""" prostate 10 57 3.07112e-06 3.19335e-06 0.387290 1 0 KIAA1033 23325 broad.mit.edu 37 12 105527601 105527601 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:105527601C>G ENST00000332180.5 + 14 1340 c.1253C>G c.(1252-1254)tCt>tGt p.S418C NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 418 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 AAAATGGAATCTATTTTGTCT 0.343000 22 49 0 0 0.592651 0 0 MYOF 26509 broad.mit.edu 37 10 95072942 95072942 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr10:95072942G>A ENST00000371501.4 - 51 5846 c.5724C>T c.(5722-5724)caC>caT p.H1908H MYOF_ENST00000371502.4_Silent_p.H1898H|MYOF_ENST00000359263.4_Silent_p.H1908H|MYOF_ENST00000358334.5_Silent_p.H1895H Q9NZM1 MYOF_HUMAN myoferlin 1908 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GAATGATCGTGTGACGCAAGT 0.458000 30 53 0 0 0.729181 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36064860 36064860 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr14:36064860C>G ENST00000258840.6 - 37 6202 c.5812G>C c.(5812-5814)Gat>Cat p.D1938H RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1891H|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D1891H|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1904H NM_001283044.1 NP_001269973.1 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1891 Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP. activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AAAGAATCATCAGAATCAGAA 0.338000 6 59 0 0 0.307466 0 0 TTN 7273 broad.mit.edu 37 2 179596192 179596192 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:179596192G>A ENST00000589042.1 - 59 17525 c.17301C>T c.(17299-17301)agC>agT p.S5767S TTN_ENST00000342992.6_Silent_p.S4523S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.S5450S|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5450 Ig-like 38. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATTTCATCGCTGTCTTTTA 0.483000 3 36 0 0 0.115264 0 0 TOB1 10140 broad.mit.edu 37 17 48941123 48941123 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:48941123G>A ENST00000499247.2 - 2 689 c.256C>T c.(256-258)Ctg>Ttg p.L86L TOB1_ENST00000268957.3_Silent_p.L86L|TOB1_ENST00000509385.1_5'UTR NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 86 negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TCCTGTGGCAGATTGCCACGA 0.433000 33 90 0 0 0.788014 0 0 FOXO1 2308 broad.mit.edu 37 13 41133687 41133687 + Silent SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:41133687T>C ENST00000379561.5 - 2 2325 c.1941A>G c.(1939-1941)acA>acG p.T647T NM_002015.3 NP_002006.2 Q12778 FOXO1_HUMAN forkhead box O1 647 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) TATGTGTCGTTGTCTTGACAC 0.428000 40 56 0 0 0.870114 0 0 TTN 7273 broad.mit.edu 37 2 179501130 179501130 + Missense_Mutation SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:179501130A>G ENST00000589042.1 - 225 41548 c.41324T>C c.(41323-41325)gTa>gCa p.V13775A TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11207A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4835A|TTN_ENST00000342175.6_Missense_Mutation_p.V4902A|TTN_ENST00000591111.1_Missense_Mutation_p.V12134A|TTN_ENST00000460472.2_Missense_Mutation_p.V4710A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12134 Ig-like 94. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTACCTTCTACAACAAGTTT 0.343000 7 3 0 0 0.278610 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681289 125681289 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr9:125681289G>A ENST00000373656.3 - 2 998 c.925C>T c.(925-927)Cag>Tag p.Q309* ZBTB26_ENST00000373654.1_Nonsense_Mutation_p.Q309* NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 TTGCCTTTCTGAGTGAAAGTC 0.443000 24 35 0 0 0.639603 0 0 BPIFB4 149954 broad.mit.edu 37 20 31671341 31671341 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr20:31671341G>A ENST00000375483.3 + 3 338 c.338G>A c.(337-339)gGa>gAa p.G113E NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 113 cytoplasm|extracellular region lipid binding GAGTCCGAGGGAAGCATCAGG 0.552000 4 73 0 0 0.150653 0 0 DUS2 54920 broad.mit.edu 37 16 68071989 68071989 + Silent SNP G G T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr16:68071989G>T ENST00000565263.1 + 3 557 c.63G>T c.(61-63)cgG>cgT p.R21R DUS2_ENST00000432752.1_Silent_p.R21R|DUS2_ENST00000358896.6_Silent_p.R21R NM_017803.3 NP_060273.1 dihydrouridine synthase 2 21 CAATGGTTCGGGTAGGGACTC 0.473000 20 36 4.26978e-12 4.64783e-12 0.654019 1 0 FBN2 2201 broad.mit.edu 37 5 127638767 127638767 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:127638767C>T ENST00000508053.1 - 52 6789 c.5815G>A c.(5815-5817)Gag>Aag p.E1939K FBN2_ENST00000262464.4_Missense_Mutation_p.E1939K P35556 FBN2_HUMAN fibrillin 2 1939 EGF-like 32; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGATGCCGCTCGCACTCATCA 0.348000 31 6 0 0 0.760397 0 0 ROPN1L 83853 broad.mit.edu 37 5 10450167 10450167 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:10450167G>C ENST00000503804.1 + 4 880 c.359G>C c.(358-360)tGt>tCt p.C120S ROPN1L_ENST00000274134.4_Missense_Mutation_p.C120S|ROPN1L_ENST00000510520.1_3'UTR Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 120 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 CTGGATCCTTGTGAAAACAAA 0.408000 20 103 0 0 0.608945 0 0 MAEL 84944 broad.mit.edu 37 1 166974581 166974581 + Frame_Shift_Del DEL T T - TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:166974581delT ENST00000367872.4 + 8 1036 c.792delT c.(790-792)actfs p.T264fs MAEL_ENST00000367870.2_Frame_Shift_Del_p.T233fs|MAEL_ENST00000491055.1_3'UTR NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 264 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 CCTCTAAGACTTGGATTCGAA 0.398 22 22 --- --- --- --- AFF3 3899 broad.mit.edu 37 2 100218011 100218013 + In_Frame_Del DEL GCT GCT - TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:100218011_100218013delGCT ENST00000409236.2 - 12 1367_1369 c.1255_1257delAGC c.(1255-1257)agcdel p.S419del AFF3_ENST00000317233.4_In_Frame_Del_p.S419del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del P51826 AFF3_HUMAN AF4/FMR2 family, member 3 Poly-Ser. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 tgctgctgccgctgctgctgctg 0.685 3 6 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36652011 36652012 + Frame_Shift_Ins INS - - C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr6:36652011_36652012insC ENST00000405375.1 + 2 368_369 c.133_134insC c.(133-135)gccfs p.A45fs CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.A45fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.A79fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.A45fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 45 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 CATCCAGGAGGCCCGTGAGCGA 0.658 20 23 --- --- --- --- AC073316.1 0 broad.mit.edu 37 7 3311196 3311198 + RNA DEL TGG TGG - rs77310567 by1000genomes TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr7:3311196_3311198delTGG ENST00000437354.1 - 0 224 gtggtgatgatggtggtggtggt 0.448 3 6 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65493618 65493620 + In_Frame_Del DEL GGC GGC - TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:65493618_65493620delGGC ENST00000321870.1 + 1 805_807 c.271_273delGGC c.(271-273)ggcdel p.G97del RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 97 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 cgcgggaagtggcggcggcggcg 0.783 2 4 --- --- --- --- RIMS2 9699 broad.mit.edu 37 8 104933968 104933968 + Frame_Shift_Del DEL G G - TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:104933968delG ENST00000507740.1 + 8 1812 c.1576delG c.(1576-1578)ggafs p.G526fs RIMS2_ENST00000436393.2_Frame_Shift_Del_p.G496fs|RIMS2_ENST00000262231.10_Frame_Shift_Del_p.G573fs|RIMS2_ENST00000406091.3_Frame_Shift_Del_p.G718fs NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 796 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CATGAGTCCTGGAATGTTGAG 0.348 HNSCC(12;0.0054) 30 54 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142444233 142444234 + RNA INS - - GGC rs142460453 by1000genomes TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:142444233_142444234insGGC ENST00000430863.1 - 0 3937 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CAGGTGTTGGGGGGGTGGGGGG 0.644 3 5 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93398816 93398818 + In_Frame_Del DEL GAG GAG - TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr14:93398816_93398818delGAG ENST00000216492.5 + 7 1190_1192 c.910_912delGAG c.(910-912)gagdel p.E308del CHGA_ENST00000334654.4_In_Frame_Del_p.E157del NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 308 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) CCAGCAGAAAGAGGAGGAGGAGG 0.655 2 4 --- --- --- --- UNC13C 440279 broad.mit.edu 37 15 54825189 54825189 + Frame_Shift_Del DEL C C - TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr15:54825189delC ENST00000545554.1 + 25 5621 c.5621delC c.(5620-5622)accfs p.T1875fs UNC13C_ENST00000260323.11_Frame_Shift_Del_p.T1875fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.T1873fs Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1875 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AATGGAAACACCACATCTAAT 0.313 7 4 --- --- --- ---