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 COL6A3 1293 broad.mit.edu 37 2 238270405 238270405 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:238270405G>A ENST00000295550.4 - 15 6585 c.6133C>T c.(6133-6135)Ccc>Tcc p.P2045S COL6A3_ENST00000353578.4_Missense_Mutation_p.P1839S|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1839S|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1844S|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1438S|COL6A3_ENST00000346358.4_Missense_Mutation_p.P1845S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2045 Collagen-like 1.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGCCGATGGGCCCGCGGTCT 0.562000 18 127 0 0 0.000175454 0 0 PACS2 23241 broad.mit.edu 37 14 105814892 105814892 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:105814892C>T ENST00000447393.1 + 2 357 c.182C>T c.(181-183)tCc>tTc p.S61F PACS2_ENST00000547217.1_Missense_Mutation_p.S61F|PACS2_ENST00000458164.2_Missense_Mutation_p.S61F|PACS2_ENST00000325438.8_Missense_Mutation_p.S61F|PACS2_ENST00000430725.2_5'UTR NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 61 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) GAGCTGATCTCCGTGGTGATC 0.617000 11 97 0 0 6.40141e-05 0 0 CITED1 4435 broad.mit.edu 37 X 71521587 71521587 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:71521587G>A ENST00000246139.5 - 3 1143 c.568C>T c.(568-570)Cca>Tca p.P190S CITED1_ENST00000373619.3_Missense_Mutation_p.P190S|CITED1_ENST00000445983.1_Missense_Mutation_p.P190S|CITED1_ENST00000431381.1_Missense_Mutation_p.P216S NM_004143.3 NP_004134.2 Q99966 CITE1_HUMAN Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 190 apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway cytosol|nucleus chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding skin(1) 1 Renal(35;0.156) CAGCTAGATGGAAAGTCCGCA 0.483000 18 28 0 0 0.000295444 0 0 MUC16 94025 broad.mit.edu 37 19 9068756 9068756 + Silent SNP T T A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:9068756T>A ENST00000397910.4 - 3 18893 c.18690A>T c.(18688-18690)acA>acT p.T6230T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6232 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGGTGAGGTTGTCACAAGGA 0.488000 8 51 0 0 0.000274275 0 0 GTF3C1 2975 broad.mit.edu 37 16 27499675 27499675 + Nonsense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:27499675C>T ENST00000356183.4 - 23 3588 c.3573G>A c.(3571-3573)tgG>tgA p.W1191* GTF3C1_ENST00000561623.1_Nonsense_Mutation_p.W1191* NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1191 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 ACTGCTCTTCCCAGCCAGCAC 0.562000 36 190 0 0 0.000228196 0 0 DRP2 1821 broad.mit.edu 37 X 100505941 100505941 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:100505941C>T ENST00000395209.3 + 16 2261 c.1734C>T c.(1732-1734)ttC>ttT p.F578F DRP2_ENST00000538510.1_Silent_p.F578F|DRP2_ENST00000402866.1_Silent_p.F578F|DRP2_ENST00000541709.1_Silent_p.F500F NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 578 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 CATCCCAGTTCCTGGAGTGGG 0.537000 20 41 0 0 0.000175454 0 0 FAM114A2 10827 broad.mit.edu 37 5 153414364 153414364 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:153414364C>T ENST00000351797.4 - 2 226 c.150G>A c.(148-150)cgG>cgA p.R50R FAM114A2_ENST00000520667.1_Silent_p.R50R|FAM114A2_ENST00000522858.1_Silent_p.R50R|FAM114A2_ENST00000520313.1_Intron NM_018691.2 NP_061161.2 Q9NRY5 F1142_HUMAN family with sequence similarity 114, member A2 50 purine nucleotide binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1) 18 CTGGTCTTTTCCGAGTGGAAA 0.433000 16 89 0 0 0.000958276 0 0 SEMA3E 9723 broad.mit.edu 37 7 83029395 83029395 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:83029395C>T ENST00000307792.3 - 11 1782 c.1315G>A c.(1315-1317)Gat>Aat p.D439N SEMA3E_ENST00000427262.1_Missense_Mutation_p.D379N NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 439 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TCCACTCGATCTACTGCTATT 0.368000 5 38 0 0 0.000602214 0 0 EVX2 344191 broad.mit.edu 37 2 176948300 176948300 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:176948300C>T ENST00000308618.4 - 1 341 c.205G>A c.(205-207)Ggc>Agc p.G69S NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 69 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) TCGAATTTGCCCTTGGCGGGG 0.632000 31 70 0 0 0.000339439 0 0 IGSF9B 22997 broad.mit.edu 37 11 133791039 133791039 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:133791039C>T ENST00000321016.8 - 18 2811 c.2581G>A c.(2581-2583)Gac>Aac p.D861N IGSF9B_ENST00000533871.2_Missense_Mutation_p.D861N Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 861 integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TCGGCAGGGTCCATCACGAAG 0.657000 25 46 0 0 0.000878237 0 0 DNAJC10 54431 broad.mit.edu 37 2 183621054 183621054 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:183621054C>T ENST00000264065.6 + 18 2082 c.1667C>T c.(1666-1668)cCt>cTt p.P556L NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 556 apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CTTATGAATCCTTCAGTGGTC 0.383000 10 33 0 0 6.40141e-05 0 0 SPI1 6688 broad.mit.edu 37 11 47399874 47399874 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:47399874G>A ENST00000378538.3 - 1 253 c.31C>T c.(31-33)Ccc>Tcc p.P11S SPI1_ENST00000533968.1_Missense_Mutation_p.P11S|SPI1_ENST00000227163.4_Missense_Mutation_p.P11S|SPI1_ENST00000533030.1_Missense_Mutation_p.P11S NM_001080547.1|NM_003120.2 NP_001074016.1|NP_003111.2 P17947 SPI1_HUMAN spleen focus forming virus (SFFV) proviral integration oncogene 11 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation nucleus protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1) 8 Lung(87;0.0967) GGGACGAGGGGAAACCCTTCC 0.682000 8 13 0 0 0.000274275 0 0 POLR2B 5431 broad.mit.edu 37 4 57876933 57876933 + Missense_Mutation SNP T T A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:57876933T>A ENST00000381227.1 + 13 1981 c.1568T>A c.(1567-1569)gTg>gAg p.V523E POLR2B_ENST00000441246.2_Missense_Mutation_p.V516E|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Missense_Mutation_p.V448E|POLR2B_ENST00000314595.5_Missense_Mutation_p.V523E P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 523 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) GTAGGACTTGTGAAGAATTTA 0.328000 15 101 0 0 0.000422831 0 0 HAL 3034 broad.mit.edu 37 12 96387588 96387588 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:96387588C>T ENST00000261208.3 - 7 881 c.513G>A c.(511-513)ggG>ggA p.G171G HAL_ENST00000538703.1_Silent_p.G171G|HAL_ENST00000541929.1_Intron NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 171 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) TGGCAAATTTCCCAAAACCTG 0.284000 5 42 0 0 0.000157383 0 0 SLC16A14 151473 broad.mit.edu 37 2 230902209 230902209 + Missense_Mutation SNP A A T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:230902209A>T ENST00000295190.4 - 5 1878 c.1420T>A c.(1420-1422)Ttc>Atc p.F474I NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 474 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) CATATGTAGAAGGAAAAATCA 0.328000 10 44 0 0 0.000442599 0 0 PTCH2 8643 broad.mit.edu 37 1 45295698 45295698 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:45295698G>A ENST00000447098.2 - 7 829 c.818C>T c.(817-819)cCc>cTc p.P273L PTCH2_ENST00000372192.3_Missense_Mutation_p.P273L NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 273 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) AGCCACATTGGGAGCCTGGAG 0.607000 Basal Cell Nevus syndrome 42 46 0 0 0.000781405 0 0 ATP7B 540 broad.mit.edu 37 13 52539038 52539038 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:52539038G>A ENST00000242839.4 - 5 1995 c.1839C>T c.(1837-1839)atC>atT p.I613I ATP7B_ENST00000344297.5_Silent_p.I613I|ATP7B_ENST00000400366.3_Silent_p.I502I|ATP7B_ENST00000448424.2_Silent_p.I613I|ATP7B_ENST00000418097.2_Silent_p.I613I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000482841.1_5'UTR NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 613 HMA 6. ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCCGTGGACCGATAATTTCCG 0.368000 Wilson disease 20 89 0 0 0.000229342 0 0 STARD13 90627 broad.mit.edu 37 13 33681026 33681026 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:33681026G>A ENST00000336934.5 - 13 3209 c.3093C>T c.(3091-3093)tcC>tcT p.S1031S STARD13_ENST00000255486.4_Silent_p.S1023S|STARD13_ENST00000399365.3_Silent_p.S913S NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 1031 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CCACGGAGAGGGACACCAGGG 0.532000 8 64 0 0 0.000442599 0 0 HOXB6 3216 broad.mit.edu 37 17 46673918 46673918 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:46673918C>T ENST00000484302.2 - 3 1154 c.532G>A c.(532-534)Gag>Aag p.E178K HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.E178K|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000477144.1_RNA P17509 HXB6_HUMAN homeobox B6 178 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(4) 7 TGCGCGATCTCGATGCGCCGC 0.602000 16 235 0 0 0.000132079 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28327101 28327101 + Missense_Mutation SNP T T G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:28327101T>G ENST00000284987.5 - 2 1315 c.1194A>C c.(1192-1194)gaA>gaC p.E398D NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 398 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GGCCATCGTCTTCAATCACAG 0.517000 5 22 0 0 3.59834e-05 0 0 ALDH3B2 222 broad.mit.edu 37 11 67430814 67430814 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:67430814G>A ENST00000349015.3 - 10 1468 c.1030C>T c.(1030-1032)Cac>Tac p.H344Y ALDH3B2_ENST00000530069.1_Missense_Mutation_p.H344Y NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 344 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) CAGGTGCGGTGGTGGGAGAAG 0.612000 12 28 0 0 0.000151284 0 0 MTNR1B 4544 broad.mit.edu 37 11 92715239 92715239 + Nonsense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:92715239C>T ENST00000257068.2 + 2 856 c.850C>T c.(850-852)Cag>Tag p.Q284* NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 284 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) AATGGCTCCCCAGATCCCTGA 0.502000 140 236 0 0 0.000781405 0 0 FAM179A 165186 broad.mit.edu 37 2 29256429 29256429 + Splice_Site SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:29256429G>A ENST00000379558.4 + 16 2576 c.2225_splice c.e16+1 p.G742_splice FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Splice_Site_p.G687_splice NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 742 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATCAAGGAGGGGTATGGCTGC 0.537000 8 20 0 0 0.000274275 0 0 DSP 1832 broad.mit.edu 37 6 7585419 7585419 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:7585419G>A ENST00000379802.3 + 24 8265 c.7924G>A c.(7924-7926)Gtt>Att p.V2642I DSP_ENST00000418664.2_Missense_Mutation_p.V2043I NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2642 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GCGGGGCATCGTTGACAGCAT 0.537000 26 100 0 0 0.000184323 0 0 LRRC8A 56262 broad.mit.edu 37 9 131670604 131670604 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:131670604C>T ENST00000259324.5 + 3 1684 c.1161C>T c.(1159-1161)tcC>tcT p.S387S LRRC8A_ENST00000372599.3_Silent_p.S387S|LRRC8A_ENST00000372600.4_Silent_p.S387S NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 387 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 CGCTCTACTCCAAGCGCTTCG 0.587000 27 48 0 0 0.000491102 0 0 MYH4 4622 broad.mit.edu 37 17 10360795 10360795 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:10360795C>T ENST00000255381.2 - 16 1949 c.1839G>A c.(1837-1839)caG>caA p.Q613Q CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 613 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTGCAGACTTCTGGTACAGCC 0.498000 5 15 0 0 0.000602214 0 0 ITSN1 6453 broad.mit.edu 37 21 35247714 35247714 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:35247714G>A ENST00000381318.3 + 34 4518 c.4230G>A c.(4228-4230)ctG>ctA p.L1410L AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Silent_p.L1410L|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Silent_p.L1405L|ITSN1_ENST00000437442.2_Intron NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 1410 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 AGCACGCCCTGGAGAAGGCGG 0.557000 10 69 0 0 0.00010058 0 0 KCNQ3 3786 broad.mit.edu 37 8 133187715 133187715 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:133187715G>A ENST00000388996.4 - 5 1338 c.918C>T c.(916-918)gcC>gcT p.A306A KCNQ3_ENST00000519445.1_Silent_p.A306A|KCNQ3_ENST00000521134.1_Silent_p.A186A NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 306 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCCACCACAGGGCATCTGCAT 0.502000 14 59 0 0 0.00074312 0 0 TSPYL6 388951 broad.mit.edu 37 2 54483133 54483133 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:54483133G>A ENST00000317802.7 - 1 276 c.156C>T c.(154-156)ccC>ccT p.P52P ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY-like 6 52 nucleosome assembly nucleus NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2) 20 CTGGAAGCCGGGGCGGTGGGA 0.607000 23 102 0 0 0.000878237 0 0 GDF15 9518 broad.mit.edu 37 19 18497249 18497249 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:18497249C>T ENST00000595973.1 + 2 801 c.250C>T c.(250-252)Cct>Tct p.P84S GDF15_ENST00000252809.3_Missense_Mutation_p.P84S Q99988 GDF15_HUMAN growth differentiation factor 15 84 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 CGTCCCGGCCCCTGCAGTCCG 0.577000 5 27 0 0 0.000602214 0 0 TRIM38 10475 broad.mit.edu 37 6 25983438 25983438 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:25983438C>T ENST00000357085.3 + 8 1397 c.921C>T c.(919-921)ctC>ctT p.L307L TRIM38_ENST00000349458.3_Silent_p.L307L NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 307 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 AACTAATTCTCTCTGAGGATC 0.433000 10 34 0 0 0.00010058 0 0 TMEM211 255349 broad.mit.edu 37 22 25331491 25331491 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr22:25331491C>T ENST00000407886.1 - 4 451 c.199G>A c.(199-201)Gaa>Aaa p.E67K TMEM211_ENST00000423535.1_Missense_Mutation_p.E138K|TMEM211_ENST00000382744.1_Missense_Mutation_p.E67K Q6ICI0 TM211_HUMAN transmembrane protein 211 138 integral to membrane endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 GAGGAGGCTTCGCACACTTCC 0.532000 28 40 0 0 0.000279167 0 0 SLAMF8 56833 broad.mit.edu 37 1 159802889 159802889 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:159802889G>A ENST00000289707.5 + 3 740 c.591G>A c.(589-591)gtG>gtA p.V197V SLAMF8_ENST00000368104.4_Silent_p.V88V|SLAMF8_ENST00000471286.1_3'UTR NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 197 Ig-like C2-type. integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) ACAGAGATGTGGCCTATTCCT 0.567000 7 66 0 0 0.000157383 0 0 CDC7 8317 broad.mit.edu 37 1 91985787 91985787 + Missense_Mutation SNP T T G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:91985787T>G ENST00000428239.1 + 11 1540 c.1281T>G c.(1279-1281)atT>atG p.I427M CDC7_ENST00000430031.2_Missense_Mutation_p.I399M|CDC7_ENST00000234626.6_Missense_Mutation_p.I427M NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 427 Protein kinase. cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) TGGCCCAAATTATGACAATTA 0.358000 5 19 0 0 0.000602214 0 0 POTEE 445582 broad.mit.edu 37 2 132021837 132021837 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:132021837G>A ENST00000356920.5 + 15 2903 c.2809G>A c.(2809-2811)Gag>Aag p.E937K PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 937 Actin-like. ATP binding p.E937K(1) CTCCTCCCTAGAGAAGAGCTA 0.627000 36 179 0 0 0.000191422 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675118 40675118 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:40675118C>T ENST00000416151.2 + 1 197 c.82C>T c.(82-84)Ccg>Tcg p.P28S KNSTRN_ENST00000249776.8_Missense_Mutation_p.P28S|KNSTRN_ENST00000448395.2_Missense_Mutation_p.P28S NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein CCACCCACTTCCGCCTAGCTA 0.562000 10 87 0 0 0.000673444 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885041 12885041 + Missense_Mutation SNP T T C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:12885041T>C ENST00000535591.1 - 4 1265 c.1070A>G c.(1069-1071)aAc>aGc p.N357S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 357 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GCTCAGCAGGTTCTCCAGGGT 0.542000 78 125 0 0 0.000781405 0 0 DDX10 1662 broad.mit.edu 37 11 108562663 108562663 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:108562663C>T ENST00000526794.1 + 8 1068 c.1036C>T c.(1036-1038)Cat>Tat p.H346Y DDX10_ENST00000322536.3_Missense_Mutation_p.H346Y Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 346 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) CCTTGCACTCCATGGTCGACA 0.468000 T NUP98 AML* 14 28 0 0 0.000219431 0 0 PAPPA2 60676 broad.mit.edu 37 1 176734808 176734808 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:176734808C>T ENST00000367662.3 + 15 5322 c.4158C>T c.(4156-4158)atC>atT p.I1386I NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1386 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCAGCTGTATCCATCGGCCCT 0.507000 38 46 0 0 0.000374591 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65226364 65226364 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:65226364C>T ENST00000380230.3 + 9 826 c.797C>T c.(796-798)gCc>gTc p.A266V ANKDD1A_ENST00000395720.1_Missense_Mutation_p.A266V|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.A266V|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.A175V NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 266 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 CACTATGCAGCCCTCAGTGGC 0.527000 20 109 0 0 0.000295444 0 0 PROKR2 128674 broad.mit.edu 37 20 5283169 5283169 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:5283169G>A ENST00000546004.1 - 3 918 c.672C>T c.(670-672)ttC>ttT p.F224F PROKR2_ENST00000217270.3_Silent_p.F224F Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 224 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AGATGAAGAGGAAGTAGGACT 0.537000 HNSCC(71;0.22) 13 67 0 0 0.000151284 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988032 154988032 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:154988032C>T ENST00000368426.3 + 3 1033 c.896C>T c.(895-897)tCc>tTc p.S299F ZBTB7B_ENST00000292176.2_Missense_Mutation_p.S299F|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.S333F|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.S299F NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 299 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 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) CCCCCGCTGTCCCCAGAGGAG 0.632000 5 47 0 0 0.000602214 0 0 NLRP3 114548 broad.mit.edu 37 1 247587649 247587649 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:247587649G>A ENST00000366497.2 + 4 1684 c.904G>A c.(904-906)Gac>Aac p.D302N NLRP3_ENST00000391827.2_Missense_Mutation_p.D302N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.D302N|NLRP3_ENST00000336119.3_Missense_Mutation_p.D302N|NLRP3_ENST00000366496.2_Missense_Mutation_p.D302N|NLRP3_ENST00000391828.3_Missense_Mutation_p.D302N NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 302 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CTTCCTCATGGACGGCTTCGA 0.587000 18 83 0 0 0.000175454 0 0 TSHZ1 10194 broad.mit.edu 37 18 72998840 72998840 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:72998840C>T ENST00000322038.5 + 2 1927 c.1343C>T c.(1342-1344)tCc>tTc p.S448F TSHZ1_ENST00000580243.1_Missense_Mutation_p.S493F NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 493 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CCCGCGGGGTCCACGACTTCT 0.597000 20 58 0 0 0.000175454 0 0 CXorf23 256643 broad.mit.edu 37 X 19983592 19983592 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:19983592G>A ENST00000379687.3 - 3 877 c.844C>T c.(844-846)Cgt>Tgt p.R282C CXorf23_ENST00000356980.3_Missense_Mutation_p.R282C|CXorf23_ENST00000379682.4_Missense_Mutation_p.R282C NM_198279.3 NP_938020.2 A2AJT9 CX023_HUMAN chromosome X open reading frame 23 282 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 CGTTTGTGACGATAGTCATAG 0.453000 11 26 0 0 0.000151284 0 0 GRM4 2914 broad.mit.edu 37 6 34101042 34101042 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:34101042G>A ENST00000374181.3 - 1 401 c.232C>T c.(232-234)Cgg>Tgg p.R78W GRM4_ENST00000538487.1_Missense_Mutation_p.R78W|GRM4_ENST00000374177.3_Intron NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 78 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GCCTCCAGCCGGTGGATGCCC 0.617000 8 31 0 0 0.000157383 0 0 SPTLC2 9517 broad.mit.edu 37 14 77987829 77987829 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:77987829G>A ENST00000216484.2 - 10 1592 c.1399C>T c.(1399-1401)Cca>Tca p.P467S NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 467 KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5). integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GGCACTACTGGAGAGTCTTCA 0.448000 10 31 0 0 0.000442599 0 0 SSX3 10214 broad.mit.edu 37 X 48214155 48214155 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:48214155G>A ENST00000298396.2 - 3 148 c.96C>T c.(94-96)ttC>ttT p.F32F SSX3_ENST00000376893.3_Silent_p.F32F NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 32 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 CTTCCTTAGAGAAGTATTTGG 0.408000 8 35 0 0 0.000157383 0 0 CHAT 1103 broad.mit.edu 37 10 50854660 50854660 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:50854660C>T ENST00000395562.2 + 9 1444 c.975C>T c.(973-975)ctC>ctT p.L325L CHAT_ENST00000395559.2_Silent_p.L289L|CHAT_ENST00000455728.2_Silent_p.L289L|CHAT_ENST00000351556.3_Silent_p.L289L|CHAT_ENST00000339797.1_Silent_p.L289L|CHAT_ENST00000337653.2_Silent_p.L407L NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 407 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CACTCCAGCTCCTTCACGGCG 0.637000 13 55 0 0 0.000219431 0 0 HABP2 3026 broad.mit.edu 37 10 115335690 115335690 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:115335690G>A ENST00000537906.1 + 5 386 c.224G>A c.(223-225)gGg>gAg p.G75E HABP2_ENST00000541666.1_Silent_p.G86G|HABP2_ENST00000351270.3_Silent_p.G86G|HABP2_ENST00000542051.1_Silent_p.G60G Q14520 HABP2_HUMAN hyaluronan binding protein 2 0 EGF-like 1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) AACACGGTGGGGACTGCCTCG 0.547000 21 88 0 0 0.000295444 0 0 MAP3K15 389840 broad.mit.edu 37 X 19413209 19413209 + Missense_Mutation SNP C C A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:19413209C>A ENST00000338883.4 - 16 2183 c.2184G>T c.(2182-2184)caG>caT p.Q728H MAP3K15_ENST00000359173.3_Missense_Mutation_p.Q163H|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.Q560H NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 728 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CTCCAGGCACCTGCTCCATAA 0.463000 14 50 9.31168e-06 0.000150149 0.000151284 1 0 COL6A2 1292 broad.mit.edu 37 21 47531410 47531410 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:47531410C>T ENST00000300527.4 + 2 124 c.20C>T c.(19-21)tCc>tTc p.S7F COL6A2_ENST00000409416.1_Missense_Mutation_p.S7F|COL6A2_ENST00000397763.1_Missense_Mutation_p.S7F|COL6A2_ENST00000310645.5_Missense_Mutation_p.S7F|COL6A2_ENST00000357838.4_Missense_Mutation_p.S7F NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 7 axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GGCACCTGCTCCGTGCTCCTG 0.657000 8 48 0 0 0.000157383 0 0 DNAH7 56171 broad.mit.edu 37 2 196774799 196774799 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:196774799G>A ENST00000312428.6 - 25 4156 c.4056C>T c.(4054-4056)ttC>ttT p.F1352F NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1352 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CAGAGCAGTTGAAAACAACAC 0.423000 5 19 0 0 0.000602214 0 0 DUSP27 92235 broad.mit.edu 37 1 167096537 167096537 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:167096537C>T ENST00000361200.2 + 6 2335 c.2169C>T c.(2167-2169)atC>atT p.I723I DUSP27_ENST00000271385.5_Silent_p.I723I|DUSP27_ENST00000443333.1_Silent_p.I723I|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 723 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TTGCCAGTATCCAGAACTGGA 0.542000 30 65 0 0 0.00058488 0 0 FGF13 2258 broad.mit.edu 37 X 137715099 137715099 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:137715099C>T ENST00000315930.6 - 5 1311 c.650G>A c.(649-651)cGa>cAa p.R217Q FGF13_ENST00000305414.4_Missense_Mutation_p.R164Q|FGF13_ENST00000541469.1_Missense_Mutation_p.R171Q|FGF13_ENST00000441825.2_Missense_Mutation_p.R198Q|FGF13_ENST00000370603.3_Missense_Mutation_p.R227Q NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 217 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity p.R217Q(2)|p.R227Q(2)|p.R164Q(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) GCTTCCAGATCGGGAGAACTC 0.517000 11 26 0 0 0.00010058 0 0 FGFBP1 9982 broad.mit.edu 37 4 15937835 15937835 + Nonsense_Mutation SNP T T A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:15937835T>A ENST00000382333.1 - 3 715 c.421A>T c.(421-423)Aag>Tag p.K141* FGFBP1_ENST00000259988.2_Nonsense_Mutation_p.K141* NM_005130.4 NP_005121.1 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 141 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1) 10 GGAAAATCCTTTCTGCACACT 0.468000 8 41 0 0 0.000274275 0 0 ADAM29 11086 broad.mit.edu 37 4 175898651 175898651 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:175898651G>A ENST00000359240.3 + 5 2645 c.1975G>A c.(1975-1977)Gga>Aga p.G659R ADAM29_ENST00000404450.4_Missense_Mutation_p.G659R|ADAM29_ENST00000514159.1_Missense_Mutation_p.G659R|ADAM29_ENST00000445694.1_Missense_Mutation_p.G659R NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 659 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AAAAGGCTATGGAGGTAGTGT 0.403000 4 10 0 0 0.000602214 0 0 MUC2 4583 broad.mit.edu 37 11 1095748 1095748 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:1095748G>A ENST00000441003.2 + 33 6286 c.6259G>A c.(6259-6261)Gag>Aag p.E2087K MUC2_ENST00000361558.6_Missense_Mutation_p.E225K|MUC2_ENST00000333592.6_3'UTR NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4449 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GGTGGAGTGTGAGCCGCCGCC 0.652000 5 7 0 0 3.59834e-05 0 0 TPO 7173 broad.mit.edu 37 2 1459887 1459887 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:1459887G>A ENST00000345913.4 + 7 743 c.652G>A c.(652-654)Gag>Aag p.E218K TPO_ENST00000382201.3_Missense_Mutation_p.E218K|TPO_ENST00000346956.3_Missense_Mutation_p.E218K|TPO_ENST00000349624.3_Missense_Mutation_p.E218K|TPO_ENST00000329066.4_Missense_Mutation_p.E218K|TPO_ENST00000337415.3_Missense_Mutation_p.E218K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.E218K NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 218 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AGTTTCAAATGAGGTTGTCAC 0.512000 8 21 0 0 0.000442599 0 0 ABCA4 24 broad.mit.edu 37 1 94506906 94506906 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:94506906C>T ENST00000370225.3 - 23 3467 c.3381G>A c.(3379-3381)ggG>ggA p.G1127G NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1127 ABC transporter 1. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CAATGCGGTCCCCAAGGAGGT 0.592000 10 40 0 0 0.000673444 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336468 30336468 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:30336468C>T ENST00000375377.1 - 2 375 c.274G>A c.(274-276)Gag>Aag p.E92K NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 92 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TACCCCGCCTCCGAGGTTCTG 0.557000 8 33 0 0 0.000442599 0 0 RTP1 132112 broad.mit.edu 37 3 186915469 186915469 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:186915469G>A ENST00000312295.4 + 1 196 c.166G>A c.(166-168)Gag>Aag p.E56K RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 56 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) GAAGATGGAGGAGGCAAAGCC 0.507000 15 34 0 0 0.000566183 0 0 SPTLC2 9517 broad.mit.edu 37 14 77987828 77987828 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:77987828G>A ENST00000216484.2 - 10 1593 c.1400C>T c.(1399-1401)cCa>cTa p.P467L NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 467 KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5). integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AGGCACTACTGGAGAGTCTTC 0.448000 10 35 0 0 0.000442599 0 0 SAMD9 54809 broad.mit.edu 37 7 92730882 92730882 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:92730882G>A ENST00000379958.2 - 3 4798 c.4529C>T c.(4528-4530)tCc>tTc p.S1510F NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1510 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTGCCACAAGGAATTAATATC 0.358000 7 29 0 0 8.12818e-05 0 0 TMC2 117532 broad.mit.edu 37 20 2559848 2559848 + Nonsense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:2559848G>A ENST00000358864.1 + 6 717 c.702G>A c.(700-702)tgG>tgA p.W234* NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 234 Arg/Asp/Glu/Lys-rich (highly charged). integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GTATCCCCTGGGAAATGAAGA 0.368000 12 38 0 0 0.000422831 0 0 POLR2B 5431 broad.mit.edu 37 4 57876932 57876932 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:57876932G>A ENST00000381227.1 + 13 1980 c.1567G>A c.(1567-1569)Gtg>Atg p.V523M POLR2B_ENST00000441246.2_Missense_Mutation_p.V516M|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Missense_Mutation_p.V448M|POLR2B_ENST00000314595.5_Missense_Mutation_p.V523M P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 523 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) TGTAGGACTTGTGAAGAATTT 0.328000 16 97 0 0 0.000422831 0 0 TLR1 7096 broad.mit.edu 37 4 38798570 38798570 + Missense_Mutation SNP A A G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:38798570A>G ENST00000308979.2 - 4 2156 c.1883T>C c.(1882-1884)tTa>tCa p.L628S TLR1_ENST00000502213.2_Missense_Mutation_p.L628S NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 628 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 GAGTTCTTCTAAGGGTATGTT 0.483000 8 35 0 0 0.000442599 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378904 16378904 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:16378904C>T ENST00000375679.4 + 15 1731 c.1620C>T c.(1618-1620)atC>atT p.I540I CLCNKB_ENST00000375667.3_Silent_p.I371I NM_000085.4 NP_000076.2 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) GCCGCAACATCGGGTGAGTGG 0.587000 13 57 0 0 0.000422831 0 0 TRHDE 29953 broad.mit.edu 37 12 73012805 73012805 + Missense_Mutation SNP A A G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:73012805A>G ENST00000261180.4 + 13 2417 c.2321A>G c.(2320-2322)tAc>tGc p.Y774C NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 774 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ATGGAAAACTACAACATTTTC 0.333000 6 12 0 0 8.12818e-05 0 0 SNHG14 104472715 broad.mit.edu 37 15 25227064 25227064 + RNA SNP T T G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:25227064T>G ENST00000551631.2 + 0 367 NR_001293.1 TAAGTGCTTTTAGGACAGAAA 0.398000 16 121 0 0 0.000308642 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136320568 136320568 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:136320568C>T ENST00000371929.3 + 25 3855 c.3411C>T c.(3409-3411)agC>agT p.S1137S ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Intron|ADAMTS13_ENST00000355699.2_Intron NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1137 cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GTACGCCCAGCCTGGTGCCCC 0.697000 14 63 0 0 0.000422831 0 0 GPR123 84435 broad.mit.edu 37 10 134898381 134898381 + Silent SNP C C T rs140828209 by1000genomes TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:134898381C>T ENST00000607359.1 + 8 1443 c.1443C>T c.(1441-1443)atC>atT p.I481I Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 230 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) AGGAAGGAATCGCACCTGGGG 0.622000 5 23 0 0 0.000602214 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29907154 29907154 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:29907154C>T ENST00000308713.5 - 4 1066 c.539G>A c.(538-540)gGc>gAc p.G180D SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G136D|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G110D NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 180 CUB 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATACCCTTCGCCCTCGGAGAT 0.572000 7 81 0 0 0.000274275 0 0 WBP2NL 164684 broad.mit.edu 37 22 42422922 42422922 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr22:42422922G>A ENST00000328823.9 + 6 698 c.667G>A c.(667-669)Gga>Aga p.G223R WBP2NL_ENST00000543212.1_Missense_Mutation_p.G149R NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 223 10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 CCCACCTCTTGGATACGGAGC 0.607000 66 102 0 0 0.000781405 0 0 MUC4 4585 broad.mit.edu 37 3 195501092 195501092 + Missense_Mutation SNP T T C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:195501092T>C ENST00000463781.3 - 4 13487 c.13028A>G c.(13027-13029)aAg>aGg p.K4343R MUC4_ENST00000475231.1_Missense_Mutation_p.K4343R|MUC4_ENST00000346145.4_Missense_Mutation_p.K107R|MUC4_ENST00000349607.4_Missense_Mutation_p.K56R NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1100 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGTCGCCGGCTTGAAGAGTGG 0.662000 10 31 0 0 0.000673444 0 0 WBSCR17 64409 broad.mit.edu 37 7 70885919 70885919 + Nonsense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:70885919C>T ENST00000333538.5 + 5 1424 c.790C>T c.(790-792)Cag>Tag p.Q264* WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 264 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) ATCCCGCATCCAGGAAAACCG 0.537000 65 148 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9060133 9060133 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:9060133C>T ENST00000397910.4 - 3 27516 c.27313G>A c.(27313-27315)Ggg>Agg p.G9105R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9107 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGTGGGTCCCTGACATAAAA 0.478000 15 21 0 0 0.000308642 0 0 ZNF804A 91752 broad.mit.edu 37 2 185798353 185798353 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:185798353G>A ENST00000302277.6 + 3 873 c.279G>A c.(277-279)agG>agA p.R93R NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 93 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGAAACAAAGGGAATTTGCTC 0.353000 7 3 0 0 8.12818e-05 0 0 CCDC108 255101 broad.mit.edu 37 2 219888059 219888059 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:219888059G>A ENST00000341552.5 - 16 2773 c.2690C>T c.(2689-2691)tCc>tTc p.S897F CCDC108_ENST00000453220.1_Missense_Mutation_p.S897F|CCDC108_ENST00000441968.1_Missense_Mutation_p.S897F NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 897 MSP. integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGCTGGTGGAGGAGCAGCC 0.632000 7 49 0 0 0.000157383 0 0 UNC13C 440279 broad.mit.edu 37 15 54305995 54305995 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:54305995C>T ENST00000545554.1 + 1 895 c.895C>T c.(895-897)Cgg>Tgg p.R299W UNC13C_ENST00000260323.11_Missense_Mutation_p.R299W|UNC13C_ENST00000537900.1_Missense_Mutation_p.R299W Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 299 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) TGTCCAGTCTCGGAGGGAAAC 0.443000 11 35 0 0 0.00010058 0 0 KRT5 3852 broad.mit.edu 37 12 52910587 52910587 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:52910587G>A ENST00000252242.4 - 7 1663 c.1273C>T c.(1273-1275)Ctc>Ttc p.L425F NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 425 Coil 2.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) GCATCCTTGAGGGCCAGCTCC 0.617000 5 61 0 0 0.000602214 0 0 ZNF677 342926 broad.mit.edu 37 19 53740999 53740999 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:53740999G>A ENST00000333952.4 - 5 1146 c.981C>T c.(979-981)gtC>gtT p.V327V ZNF677_ENST00000598513.1_Silent_p.V327V Q86XU0 ZN677_HUMAN zinc finger protein 677 327 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TTTGACTACAGACCTTGCCAC 0.413000 5 31 0 0 0.000602214 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455097 84455097 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:84455097G>A ENST00000377084.2 - 1 1431 c.546C>T c.(544-546)ctC>ctT p.L182L NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 182 integral to membrane p.L182L(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CCCGGAGGTCGAGGTGGGTGA 0.527000 31 67 0 0 0.000491102 0 0 VENTX 27287 broad.mit.edu 37 10 135053799 135053799 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:135053799G>A ENST00000325980.9 + 3 1277 c.766G>A c.(766-768)Gat>Aat p.D256N NM_014468.2 NP_055283.1 O95231 VENTX_HUMAN VENT homeobox 256 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D256H(1) NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1) 14 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) ACAGACGGGGGATGCATTTTG 0.647000 8 29 0 0 0.000442599 0 0 WDR20 91833 broad.mit.edu 37 14 102661347 102661347 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:102661347C>T ENST00000322340.5 + 2 371 c.322C>T c.(322-324)Cac>Tac p.H108Y WDR20_ENST00000335263.5_Missense_Mutation_p.H108Y|WDR20_ENST00000545563.1_5'UTR|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.H108Y|WDR20_ENST00000424963.2_Intron|WDR20_ENST00000342702.3_Missense_Mutation_p.H108Y|WDR20_ENST00000299135.6_Intron|WDR20_ENST00000558567.1_Missense_Mutation_p.H108Y|WDR20_ENST00000557186.1_3'UTR|WDR20_ENST00000556807.1_Intron|WDR20_ENST00000556511.2_Intron NM_001242415.1 NP_001229344.1 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 108 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 TGACTTCAACCACCTAACAGC 0.418000 8 70 0 0 0.000157383 0 0 NDUFA13 51079 broad.mit.edu 37 19 19627027 19627027 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:19627027G>A ENST00000252576.5 + 1 229 c.229G>A c.(229-231)Gaa>Aaa p.E77K NDUFA13_ENST00000507754.3_5'UTR NM_015965.6 NP_057049.5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 12 CCCGGGACCGGAAGTGTGGGA 0.622000 8 48 0 0 0.000442599 0 0 GPATCH8 23131 broad.mit.edu 37 17 42477247 42477247 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:42477247G>A ENST00000434000.1 - 9 2246 c.1964C>T c.(1963-1965)cCa>cTa p.P655L GPATCH8_ENST00000591680.1_Missense_Mutation_p.P733L Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 733 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) AGGGGGTTCTGGTTTGGGTCC 0.542000 11 62 0 0 6.40141e-05 0 0 PRKAB2 5565 broad.mit.edu 37 1 146639510 146639510 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:146639510G>A ENST00000254101.3 - 3 297 c.159C>T c.(157-159)ctC>ctT p.L53L PRKAB2_ENST00000425272.2_Intron NM_005399.3 NP_005390.1 O43741 AAKB2_HUMAN protein kinase, AMP-activated, beta 2 non-catalytic subunit 53 carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.0487) Adenosine monophosphate(DB00131) TGTCCCCAGGGAGCTGTAAGA 0.512000 35 134 0 0 0.000692331 0 0 ZP4 57829 broad.mit.edu 37 1 238050772 238050772 + Missense_Mutation SNP A A C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:238050772A>C ENST00000366570.4 - 5 801 c.643T>G c.(643-645)Ttg>Gtg p.L215V RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 215 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CTAAGGGCCAAGCGCACAGAA 0.507000 15 123 0 0 0.000308642 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99439605 99439605 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:99439605G>A ENST00000397899.2 - 7 1462 c.1131C>T c.(1129-1131)ccC>ccT p.P377P NM_207362.2 NP_997245.2 KIAA1211-like ACGGGCCTGCGGGGGGCGCCT 0.751000 4 18 0 0 0.000602214 0 0 MC5R 4161 broad.mit.edu 37 18 13826735 13826735 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:13826735G>A ENST00000324750.3 + 1 1193 c.971G>A c.(970-972)aGg>aAg p.R324K NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 324 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TTTCCCAGAAGGGATTAAGCA 0.522000 15 95 0 0 0.00074312 0 0 JADE2 23338 broad.mit.edu 37 5 133895560 133895560 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:133895560C>T ENST00000395003.1 + 5 531 c.352C>T c.(352-354)Ccg>Tcg p.P118S PHF15_ENST00000402835.1_Missense_Mutation_p.P118S|PHF15_ENST00000282605.4_Missense_Mutation_p.P118S|PHF15_ENST00000361895.2_Missense_Mutation_p.P118S NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 118 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAGGCATCCCCGAGCAGCAC 0.617000 9 30 0 0 0.000274275 0 0 ANLN 54443 broad.mit.edu 37 7 36447420 36447420 + Silent SNP T T C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:36447420T>C ENST00000265748.2 + 5 1172 c.951T>C c.(949-951)ctT>ctC p.L317L ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Silent_p.L317L NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 317 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 CTGAGCTACTTCCAAAAACTC 0.403000 7 33 0 0 8.12818e-05 0 0 DST 667 broad.mit.edu 37 6 56422233 56422233 + Nonsense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:56422233G>A ENST00000370754.5 - 59 14430 c.14431C>T c.(14431-14433)Cag>Tag p.Q4811* DST_ENST00000244364.6_Nonsense_Mutation_p.Q2219*|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Nonsense_Mutation_p.Q4631*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q2545*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q4633*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q2545*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q4307* Q03001 DYST_HUMAN dystonin 4631 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TCTACAGTCTGGAACTGGGTT 0.373000 6 26 0 0 3.59834e-05 0 0 CNIH3 149111 broad.mit.edu 37 1 224868708 224868708 + Nonsense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:224868708C>T ENST00000272133.3 + 2 1012 c.130C>T c.(130-132)Cag>Tag p.Q44* NM_152495.1 NP_689708.1 Q8TBE1 CNIH3_HUMAN cornichon family AMPA receptor auxiliary protein 3 44 intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane large_intestine(5)|lung(4) 9 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) CCCCATAGACCAGTGCAATCC 0.498000 21 111 0 0 0.000279167 0 0 SLC25A31 83447 broad.mit.edu 37 4 128651763 128651763 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:128651763G>A ENST00000281154.4 + 1 231 c.63G>A c.(61-63)ggG>ggA p.G21G NM_031291.2 NP_112581.1 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 21 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 CATCCTTCGGGAAGGACCTTC 0.592000 9 79 0 0 0.000673444 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74206074 74206074 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:74206074G>A ENST00000286523.5 - 2 1420 c.638C>T c.(637-639)cCc>cTc p.P213L ELMSAN1_ENST00000394071.2_Missense_Mutation_p.P213L NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GGGTTGCAGGGGCAGTGACTG 0.647000 11 90 0 0 6.40141e-05 0 0 ZNF341 84905 broad.mit.edu 37 20 32379277 32379277 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:32379277C>T ENST00000375200.1 + 15 2884 c.2519C>T c.(2518-2520)cCa>cTa p.P840L RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.P833L Q9BYN7 ZN341_HUMAN zinc finger protein 341 840 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 GCCGAGGGCCCATGTGCCATG 0.667000 15 21 0 0 0.00074312 0 0 F10 2159 broad.mit.edu 37 13 113803660 113803660 + Silent SNP C C T rs139031355 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:113803660C>T ENST00000375559.3 + 8 1334 c.1296C>T c.(1294-1296)ttC>ttT p.F432F F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 432 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) ACACCTACTTCGTGACAGGCA 0.622000 11 80 0 0 0.000673444 0 0 TRBV7-8 28590 broad.mit.edu 37 7 142099663 142099663 + RNA SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:142099663C>T ENST00000390359.3 - 0 177 GATACATGACCCGAAATTGGA 0.507000 20 41 0 0 0.000175454 0 0 GPAA1 8733 broad.mit.edu 37 8 145138651 145138651 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:145138651G>A ENST00000355091.4 + 4 522 c.401G>A c.(400-402)cGg>cAg p.R134Q GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Missense_Mutation_p.R74Q NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 134 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGCATCCTGCGGGCCCCGCGT 0.652000 6 36 0 0 0.000274275 0 0 EIF4H 7458 broad.mit.edu 37 7 73604036 73604036 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:73604036C>T ENST00000265753.8 + 3 420 c.281C>T c.(280-282)tCc>tTc p.S94F EIF4H_ENST00000353999.6_Missense_Mutation_p.S94F|EIF4H_ENST00000495187.1_3'UTR NM_022170.1 NP_071496.1 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H 94 RRM. interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity endometrium(1)|lung(2)|prostate(1) 4 GAAGTGGATTCCCTTAAGGAA 0.398000 11 60 0 0 0.000673444 0 0 ADAM29 11086 broad.mit.edu 37 4 175896987 175896987 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:175896987G>A ENST00000359240.3 + 5 981 c.311G>A c.(310-312)gGt>gAt p.G104D ADAM29_ENST00000404450.4_Missense_Mutation_p.G104D|ADAM29_ENST00000514159.1_Missense_Mutation_p.G104D|ADAM29_ENST00000445694.1_Missense_Mutation_p.G104D NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 104 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TACTATCATGGTTATGTGGAA 0.438000 4 12 0 0 0.000602214 0 0 IRX5 10265 broad.mit.edu 37 16 54967726 54967726 + Nonsense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:54967726C>T ENST00000394636.4 + 3 1730 c.1393C>T c.(1393-1395)Cag>Tag p.Q465* IRX5_ENST00000558597.1_Nonsense_Mutation_p.Q399*|IRX5_ENST00000320990.5_Nonsense_Mutation_p.Q464*|IRX5_ENST00000560154.1_Nonsense_Mutation_p.Q245* P78411 IRX5_HUMAN iroquois homeobox 5 465 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 GAGCCAGTCTCAGCTAGACCT 0.488000 35 82 0 0 0.000374591 0 0 ZNF236 7776 broad.mit.edu 37 18 74667977 74667977 + Missense_Mutation SNP C C A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:74667977C>A ENST00000253159.8 + 28 5143 c.4945C>A c.(4945-4947)Cag>Aag p.Q1649K ZNF236_ENST00000320610.9_Missense_Mutation_p.Q1651K NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1649 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CCCGGGCAACCAGCCAGAGAA 0.607000 5 23 8.12818e-05 0.001306 8.12818e-05 1 0 CBX2 84733 broad.mit.edu 37 17 77755738 77755738 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:77755738G>A ENST00000269399.5 + 4 468 c.426G>A c.(424-426)caG>caA p.Q142Q CBX2_ENST00000310942.4_Intron NM_032647.3 NP_116036.1 Q14781 CBX2_HUMAN chromobox homolog 2 0 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TCGGAAAACAGGAGCCCCCTT 0.652000 15 147 0 0 0.000219431 0 0 DUOX2 50506 broad.mit.edu 37 15 45387154 45387154 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:45387154C>T ENST00000389039.6 - 32 4760 c.4375G>A c.(4375-4377)Gac>Aac p.D1459N DUOX2_ENST00000603300.1_Missense_Mutation_p.D1459N Q9NRD8 DUOX2_HUMAN dual oxidase 2 1459 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GTCCTGAGGTCGAACTTCTCA 0.592000 8 70 0 0 0.000274275 0 0 PDE1C 5137 broad.mit.edu 37 7 31890260 31890260 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:31890260C>T ENST00000396184.3 - 9 1050 c.846G>A c.(844-846)caG>caA p.Q282Q PDE1C_ENST00000321453.7_Silent_p.Q282Q|PDE1C_ENST00000396191.1_Silent_p.Q282Q|PDE1C_ENST00000396193.1_Silent_p.Q342Q|PDE1C_ENST00000396182.2_Silent_p.Q282Q NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 282 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CTCACCGAGTCTGAATGTGGA 0.453000 7 25 0 0 0.000274275 0 0 PNMA3 29944 broad.mit.edu 37 X 152226196 152226196 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:152226196G>A ENST00000447306.1 + 2 1120 c.784G>A c.(784-786)Gag>Aag p.E262K PNMA3_ENST00000370265.4_Missense_Mutation_p.E262K|PNMA3_ENST00000370264.4_Missense_Mutation_p.E262K NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 262 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) ggaggcaggagagaaagtatc 0.493000 32 93 0 0 0.000339439 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65226365 65226365 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:65226365C>T ENST00000380230.3 + 9 827 c.798C>T c.(796-798)gcC>gcT p.A266A ANKDD1A_ENST00000395720.1_Silent_p.A266A|ANKDD1A_ENST00000357698.3_Silent_p.A266A|ANKDD1A_ENST00000395723.1_Silent_p.A175A NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 266 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 ACTATGCAGCCCTCAGTGGCT 0.527000 20 109 0 0 0.000295444 0 0 MC5R 4161 broad.mit.edu 37 18 13826736 13826736 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:13826736G>A ENST00000324750.3 + 1 1194 c.972G>A c.(970-972)agG>agA p.R324R NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 324 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TTCCCAGAAGGGATTAAGCAC 0.522000 15 93 0 0 0.00074312 0 0 KLC4 89953 broad.mit.edu 37 6 43030861 43030861 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:43030861G>A ENST00000394056.2 + 4 960 c.465G>A c.(463-465)caG>caA p.Q155Q KLC4_ENST00000394058.1_Silent_p.Q155Q|KLC4_ENST00000458460.2_Silent_p.Q155Q|KLC4_ENST00000453940.2_Intron|KLC4_ENST00000347162.5_Silent_p.Q155Q|KLC4_ENST00000259708.3_Silent_p.Q173Q|KLC4_ENST00000479388.1_Silent_p.Q155Q Q9NSK0 KLC4_HUMAN kinesin light chain 4 155 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) AGCTGCGGCAGTATGATGAGG 0.617000 5 38 0 0 8.12818e-05 0 0 CR1L 1379 broad.mit.edu 37 1 207851566 207851566 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:207851566G>A ENST00000508064.2 + 3 361 c.301G>A c.(301-303)Gat>Aat p.D101N CR1L_ENST00000530905.1_3'UTR NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 101 Sushi 2. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TAATCCTCCAGATCCTGTGAA 0.383000 6 51 0 0 0.000157383 0 0 FCRL2 79368 broad.mit.edu 37 1 157737316 157737316 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:157737316G>A ENST00000469986.1 - 1 248 c.108C>T c.(106-108)gcC>gcT p.A36A FCRL2_ENST00000361516.3_Intron|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Intron Q96LA5 FCRL2_HUMAN Fc receptor-like 2 0 Ig-like C2-type 1. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GACACAGAGGGGCTATCAGAA 0.557000 33 26 0 0 0.000409698 0 0 MYH3 4621 broad.mit.edu 37 17 10551931 10551931 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:10551931G>A ENST00000583535.1 - 8 765 c.678C>T c.(676-678)ccC>ccT p.P226P MYH3_ENST00000226209.7_Silent_p.P226P NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 226 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CCTCCAGCAGGGGATTGGCAC 0.443000 19 69 0 0 0.000375601 0 0 POTEF 728378 broad.mit.edu 37 2 130832707 130832707 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:130832707C>T ENST00000357462.5 - 15 2431 c.2338G>A c.(2338-2340)Gat>Aat p.D780N POTEF_ENST00000409914.2_Missense_Mutation_p.D780N A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 780 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TCCATGTCATCCCAGTTGGTG 0.572000 34 87 0 0 0.000270559 0 0 ZNF610 162963 broad.mit.edu 37 19 52857508 52857508 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:52857508C>T ENST00000403906.3 + 5 651 c.195C>T c.(193-195)atC>atT p.I65I ZNF610_ENST00000601151.1_Intron|ZNF610_ENST00000327920.8_Silent_p.I65I|ZNF610_ENST00000321287.8_Silent_p.I65I NM_001161425.1 NP_001154897.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 65 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) TAACAGGAATCTGTCTTCCTG 0.388000 6 59 0 0 8.12818e-05 0 0 ZNF560 147741 broad.mit.edu 37 19 9578369 9578369 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:9578369G>A ENST00000301480.4 - 10 1467 c.1254C>T c.(1252-1254)ggC>ggT p.G418G NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GTTCAATAAGGCCTGCAGATG 0.433000 5 9 0 0 0.000602214 0 0 POU6F1 5463 broad.mit.edu 37 12 51586222 51586222 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:51586222G>A ENST00000389243.4 - 9 1221 c.282C>T c.(280-282)ccC>ccT p.P94P POU6F1_ENST00000550824.1_Silent_p.P94P|POU6F1_ENST00000333640.10_Silent_p.P94P Q14863 PO6F1_HUMAN POU class 6 homeobox 1 94 Gln/Pro-rich. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 CAGCAGGCTGGGGCACGGTTG 0.607000 15 105 0 0 0.000422831 0 0 GPAA1 8733 broad.mit.edu 37 8 145138652 145138652 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:145138652G>A ENST00000355091.4 + 4 523 c.402G>A c.(400-402)cgG>cgA p.R134R GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Silent_p.R74R NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 134 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCATCCTGCGGGCCCCGCGTG 0.657000 6 37 0 0 0.000274275 0 0 WDR86 349136 broad.mit.edu 37 7 151082316 151082316 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:151082316G>A ENST00000469830.2 - 4 825 c.784C>T c.(784-786)Ctc>Ttc p.L262F WDR86_ENST00000463000.1_Intron|WDR86_ENST00000477459.1_Intron|WDR86_ENST00000334493.6_Intron Q86TI4 WDR86_HUMAN WD repeat domain 86 262 breast(1)|endometrium(2)|kidney(1)|lung(6) 10 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCAGCTGCGAGGAGGAGCAGG 0.642000 10 47 0 0 0.000151284 0 0 AP1G2 8906 broad.mit.edu 37 14 24036410 24036410 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:24036410G>A ENST00000308724.5 - 1 869 c.114C>T c.(112-114)tcC>tcT p.S38S AP1G2_ENST00000397120.3_Silent_p.S38S|AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 38 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) CGTCGCGGAAGGAGGCCCGGA 0.632000 OREG0022606 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 56 0 0 0.000442599 0 0 TBC1D23 55773 broad.mit.edu 37 3 100009430 100009430 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:100009430C>T ENST00000394144.4 + 5 492 c.485C>T c.(484-486)tCc>tTc p.S162F TBC1D23_ENST00000344949.5_Missense_Mutation_p.S162F|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.S25F NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 162 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 AGGGATTGTTCCCAGAAAGGG 0.393000 9 43 0 0 0.000673444 0 0 HIVEP1 3096 broad.mit.edu 37 6 12163947 12163947 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:12163947C>T ENST00000379388.2 + 9 7742 c.7410C>T c.(7408-7410)ggC>ggT p.G2470G HIVEP1_ENST00000541134.1_Silent_p.G335G NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2470 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TTCCTATCGGCCAAATCCGCG 0.502000 7 41 0 0 8.12818e-05 0 0 SLAMF6 114836 broad.mit.edu 37 1 160460440 160460440 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:160460440G>A ENST00000368059.3 - 4 751 c.682C>T c.(682-684)Ctg>Ttg p.L228L SLAMF6_ENST00000368055.1_Silent_p.L117L|SLAMF6_ENST00000368057.3_Silent_p.L228L NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 228 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) ACCATAAACAGAATCATTTTG 0.368000 5 34 0 0 3.59834e-05 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 5 103 0 0 0.000602214 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984761 41984761 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:41984761C>T ENST00000333141.5 + 1 1049 c.952C>T c.(952-954)Ctg>Ttg p.L318L NM_001029955.3 NP_001025126.2 Q3SXM0 DC4L1_HUMAN DDB1 and CUL4 associated factor 4-like 1 318 breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 GTCCGCCTATCTGCCCCTGCA 0.552000 16 64 0 0 0.000566183 0 0 TAF7 6879 broad.mit.edu 37 5 140699252 140699252 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:140699252C>T ENST00000313368.5 - 1 1078 c.360G>A c.(358-360)aaG>aaA p.K120K NM_005642.2 NP_005633.2 Q15545 TAF7_HUMAN TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa 120 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATCCTTTTTCTTGCTTGCTT 0.438000 14 97 0 0 0.000151284 0 0 ATR 545 broad.mit.edu 37 3 142172027 142172027 + Silent SNP T T C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:142172027T>C ENST00000350721.4 - 46 7825 c.7704A>G c.(7702-7704)ccA>ccG p.P2568P ATR_ENST00000383101.3_Silent_p.P2504P NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2568 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GCCCTTTCACTGGTTTACTCC 0.368000 Other conserved DNA damage response genes 27 51 0 0 0.000409698 0 0 MLXIPL 51085 broad.mit.edu 37 7 73010224 73010224 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:73010224C>T ENST00000313375.3 - 14 2181 c.2134G>A c.(2134-2136)Gag>Aag p.E712K MLXIPL_ENST00000429400.2_Missense_Mutation_p.E693K|MLXIPL_ENST00000414749.2_Missense_Mutation_p.E710K|MLXIPL_ENST00000395189.1_Missense_Mutation_p.E619K|MLXIPL_ENST00000434326.1_Missense_Mutation_p.E618K|MLXIPL_ENST00000354613.1_Missense_Mutation_p.E691K NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 712 Leucine-zipper. anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) TGGGCCTCCTCCTGCAAGCCC 0.627000 5 21 0 0 0.000602214 0 0 PARP10 84875 broad.mit.edu 37 8 145057685 145057685 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:145057685G>A ENST00000313028.7 - 8 2166 c.2072C>T c.(2071-2073)cCc>cTc p.P691L PARP10_ENST00000525773.1_Missense_Mutation_p.P703L|PARP10_ENST00000524918.1_Missense_Mutation_p.P682L NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 691 Glu-rich. Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTCCAACGGGGGCTGCTCCAG 0.672000 4 17 0 0 3.59834e-05 0 0 NOS1 4842 broad.mit.edu 37 12 117768790 117768790 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:117768790C>T ENST00000317775.6 - 2 770 c.85G>A c.(85-87)Gga>Aga p.G29R NOS1_ENST00000344089.3_Missense_Mutation_p.G29R|NOS1_ENST00000338101.4_Missense_Mutation_p.G29R NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 29 Interaction with NOSIP (By similarity).|PDZ. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ACCAGAAATCCCAGGCCCCCA 0.562000 8 63 0 0 0.000157383 0 0 NCAN 1463 broad.mit.edu 37 19 19360700 19360700 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:19360700G>A ENST00000252575.5 + 15 3989 c.3946G>A c.(3946-3948)Gac>Aac p.D1316N NCAN_ENST00000538881.1_Missense_Mutation_p.D767N NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1316 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CTGGGAGAAGGACGAAGGGAA 0.537000 5 12 0 0 0.000602214 0 0 CCDC180 100499483 broad.mit.edu 37 9 100122382 100122382 + Splice_Site SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:100122382C>T ENST00000375202.2 + 40 4966 c.3615_splice c.e40+1 p.T1205_splice RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Splice_Site_p.T1205_splice|CCDC180_ENST00000357054.1_Splice_Site_p.T1176_splice|CCDC180_ENST00000395220.1_3'UTR coiled-coil domain containing 180 CTGGTCTTTACCGTAAGGAAT 0.547000 18 93 0 0 0.000175454 0 0 T 6862 broad.mit.edu 37 6 166578292 166578292 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:166578292C>T ENST00000296946.2 - 5 1132 c.664G>A c.(664-666)Gaa>Aaa p.E222K T_ENST00000366871.3_Missense_Mutation_p.E222K NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 222 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TCTCACCTTTCCTTTGCATCA 0.318000 Chordoma, Familial Clustering of 11 85 0 0 0.00010058 0 0 DNMBP 23268 broad.mit.edu 37 10 101646230 101646230 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:101646230C>T ENST00000342239.3 - 13 3608 c.3517G>A c.(3517-3519)Gag>Aag p.E1173K DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000324109.4_Missense_Mutation_p.E1149K|DNMBP_ENST00000540316.1_Missense_Mutation_p.E85K|DNMBP_ENST00000543621.1_Missense_Mutation_p.E395K Q6XZF7 DNMBP_HUMAN dynamin binding protein 1149 BAR. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GACTGCAGCTCCTCCAGGGTC 0.547000 11 76 0 0 6.40141e-05 0 0 WDR93 56964 broad.mit.edu 37 15 90276242 90276242 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:90276242C>T ENST00000268130.7 + 13 1437 c.1336C>T c.(1336-1338)Cct>Tct p.P446S WDR93_ENST00000444934.2_Missense_Mutation_p.P163S|WDR93_ENST00000560294.1_Intron NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 446 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TCTAGGATTCCCTCTTGGGGT 0.512000 18 160 0 0 0.000958276 0 0 CD1E 913 broad.mit.edu 37 1 158325810 158325810 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:158325810G>A ENST00000444681.2 + 3 815 c.522G>A c.(520-522)ctG>ctA p.L174L CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368156.1_Silent_p.L183L|CD1E_ENST00000368167.3_Silent_p.L273L|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368165.3_Silent_p.L183L|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Silent_p.L273L|CD1E_ENST00000434258.1_Silent_p.L271L|CD1E_ENST00000368166.3_Silent_p.L84L|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Silent_p.L84L NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 273 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GAGCAACCCTGGATGTGGCGG 0.602000 7 129 0 0 0.000274275 0 0 RREB1 6239 broad.mit.edu 37 6 7231149 7231149 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:7231149C>T ENST00000379938.2 + 10 3354 c.2817C>T c.(2815-2817)atC>atT p.I939I RREB1_ENST00000334984.6_Silent_p.I939I|RREB1_ENST00000349384.6_Silent_p.I939I|RREB1_ENST00000379933.3_Silent_p.I939I NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 939 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) ACCTGTCCATCCCCAAGAACT 0.602000 5 28 0 0 0.000602214 0 0 AFF2 2334 broad.mit.edu 37 X 148039955 148039955 + Missense_Mutation SNP C C A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:148039955C>A ENST00000370460.2 + 12 3136 c.2657C>A c.(2656-2658)cCa>cAa p.P886Q AFF2_ENST00000286437.5_Missense_Mutation_p.P527Q|AFF2_ENST00000370457.5_Missense_Mutation_p.P853Q|AFF2_ENST00000342251.3_Missense_Mutation_p.P853Q NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 886 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TGCATCTCACCAGCCCCACCC 0.517000 10 44 1.33987e-11 2.17994e-10 0.000673444 1 0 SLFN13 146857 broad.mit.edu 37 17 33772553 33772553 + Silent SNP G G C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:33772553G>C ENST00000285013.6 - 3 422 c.147C>G c.(145-147)gcC>gcG p.A49A SLFN13_ENST00000542635.1_Silent_p.A49A|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Silent_p.A49A|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000526861.1_Silent_p.A49A NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 49 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AAGCACACGCGGCCCGTATAA 0.483000 19 90 0 0 0.000132079 0 0 CSHL1 1444 broad.mit.edu 37 17 61988059 61988059 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:61988059C>T ENST00000392824.4 - 2 297 c.236G>A c.(235-237)gGa>gAa p.G79E CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 CCCATTACTTCCCCAGTGGGG 0.542000 21 179 0 0 0.000295444 0 0 CLIC1 1192 broad.mit.edu 37 6 31698736 31698736 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:31698736G>A ENST00000375780.2 - 7 1181 c.609C>T c.(607-609)ttC>ttT p.F203F CLIC1_ENST00000395892.1_Silent_p.F203F|CLIC1_ENST00000375779.2_Silent_p.F203F|CLIC1_ENST00000375784.3_Silent_p.F203F O00299 CLIC1_HUMAN chloride intracellular channel 1 203 GST C-terminal. signal transduction brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction protein binding|voltage-gated chloride channel activity central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 7 GCACTCCCCGGAAGGCCTCGG 0.577000 63 328 0 0 0.000781405 0 0 FCRL6 343413 broad.mit.edu 37 1 159778212 159778212 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:159778212G>A ENST00000321935.6 + 4 404 c.318G>A c.(316-318)gaG>gaA p.E106E FCRL6_ENST00000339348.5_Silent_p.E99E|FCRL6_ENST00000368106.3_Silent_p.E99E|FCRL6_ENST00000392235.3_Silent_p.E99E Q6DN72 FCRL6_HUMAN Fc receptor-like 6 99 integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) AAACTTCAGAGACTGCCATGG 0.542000 12 59 0 0 0.00010058 0 0 SLC22A10 387775 broad.mit.edu 37 11 63064784 63064784 + Silent SNP A A C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:63064784A>C ENST00000544661.1 + 4 479 c.51A>C c.(49-51)cgA>cgC p.R17R SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Silent_p.R172R Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 172 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGTTTGGGCGAAGATTTATTC 0.408000 10 23 0 0 0.000151284 0 0 CCT6A 908 broad.mit.edu 37 7 56128511 56128511 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:56128511C>T ENST00000275603.4 + 11 1444 c.1225C>T c.(1225-1227)Cca>Tca p.P409S CCT6A_ENST00000540286.1_Missense_Mutation_p.P378S|CCT6A_ENST00000335503.3_Missense_Mutation_p.P364S|CCT6A_ENST00000462133.1_3'UTR NM_001762.3 NP_001753.1 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A (zeta 1) 409 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTGTGTGGTTCCAGGTGCTGG 0.438000 22 55 0 0 0.000720815 0 0 APC2 10297 broad.mit.edu 37 19 1468588 1468588 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:1468588G>A ENST00000535453.1 + 14 7001 c.5288G>A c.(5287-5289)gGg>gAg p.G1763E APC2_ENST00000238483.4_Missense_Mutation_p.G1489E|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.G1763E O95996 APC2_HUMAN adenomatosis polyposis coli 2 1763 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGACCAGCGGGAGCCCCCGT 0.672000 3 6 0 0 0.00024832 0 0 NOX5 79400 broad.mit.edu 37 15 69335039 69335039 + Nonsense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:69335039G>A ENST00000260364.5 + 11 1788 c.1487G>A c.(1486-1488)tGg>tAg p.W496* NOX5_ENST00000448182.3_Nonsense_Mutation_p.W468*|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Nonsense_Mutation_p.W486*|NOX5_ENST00000388866.3_Nonsense_Mutation_p.W514*|NOX5_ENST00000455873.3_Nonsense_Mutation_p.W479* Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 514 C-terminal catalytic region.|FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 CAAGGCCAGTGGACAAACAGG 0.547000 11 32 0 0 6.40141e-05 0 0 CXorf21 80231 broad.mit.edu 37 X 30577915 30577915 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:30577915G>A ENST00000378962.3 - 3 880 c.558C>T c.(556-558)tcC>tcT p.S186S NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 186 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 TTCTCCAATAGGATGAGTACC 0.443000 4 26 0 0 0.00024832 0 0 CPA1 1357 broad.mit.edu 37 7 130027801 130027801 + Silent SNP G G C rs113061008 byFrequency TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:130027801G>C ENST00000011292.3 + 10 1359 c.1209G>C c.(1207-1209)acG>acC p.T403T CPA1_ENST00000484324.1_Silent_p.T315T NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 403 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) CCAAGGAGACGTGGCTGGCGC 0.607000 33 166 0 0 0.000491102 0 0 CLEC6A 93978 broad.mit.edu 37 12 8612252 8612252 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:8612252C>T ENST00000382073.3 + 3 367 c.181C>T c.(181-183)Cat>Tat p.H61Y NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 61 defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) ACACTCATATCATTCAAGTCT 0.373000 21 54 0 0 0.000375601 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1994178 1994178 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:1994178C>T ENST00000382722.5 - 10 1495 c.1133G>A c.(1132-1134)aGa>aAa p.R378K CACNA2D4_ENST00000585708.1_Missense_Mutation_p.R314K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.R378K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.R378K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.R294K|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.R314K NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 378 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GAAGGCTTCTCTCAGGGCTTG 0.597000 20 127 0 0 0.00047179 0 0 SPA17 53340 broad.mit.edu 37 11 124545172 124545172 + Silent SNP A A G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:124545172A>G ENST00000532692.1 + 1 1433 c.12A>G c.(10-12)ccA>ccG p.P4P SPA17_ENST00000227135.2_Silent_p.P4P|SIAE_ENST00000525730.1_5'UTR Q15506 SP17_HUMAN sperm autoantigenic protein 17 4 binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis cytoplasm|flagellum|membrane|motile cilium|primary cilium cAMP-dependent protein kinase regulator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 5 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223) TGTCGATTCCATTCTCCAACA 0.398000 39 65 0 0 0.000509022 0 0 VWA2 340706 broad.mit.edu 37 10 116045915 116045915 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:116045915C>T ENST00000603594.1 + 11 1536 c.1215C>T c.(1213-1215)gaC>gaT p.D405D VWA2_ENST00000392982.3_Silent_p.D405D NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 405 VWFA 2. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) ATGTGCCTGACCTGGTCTGGA 0.687000 20 72 0 0 0.000229342 0 0 GHSR 2693 broad.mit.edu 37 3 172165570 172165570 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:172165570C>T ENST00000241256.2 - 1 676 c.634G>A c.(634-636)Gtc>Atc p.V212I GHSR_ENST00000427970.1_Missense_Mutation_p.V212I NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 212 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CACACCATGACCGTGAGCAGT 0.622000 9 27 0 0 0.000673444 0 0 MOV10 4343 broad.mit.edu 37 1 113238833 113238833 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:113238833G>A ENST00000369644.1 + 13 2704 c.1675G>A c.(1675-1677)Gaa>Aaa p.E559K MOV10_ENST00000357443.2_Missense_Mutation_p.E615K|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000413052.2_Missense_Mutation_p.E615K|MOV10_ENST00000369645.1_Missense_Mutation_p.E615K|MOV10_ENST00000468624.1_3'UTR Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 615 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GAAGCTGCAGGAATACCGGGT 0.537000 33 33 0 0 0.000319135 0 0 USH2A 7399 broad.mit.edu 37 1 215956161 215956161 + Missense_Mutation SNP C C G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:215956161C>G ENST00000366943.2 - 53 10890 c.10504G>C c.(10504-10506)Gtg>Ctg p.V3502L USH2A_ENST00000307340.3_Missense_Mutation_p.V3502L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3502 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) GGGGGACTCACTCCTTGAGGC 0.418000 HNSCC(13;0.011) 3 19 0 0 6.4e-05 0 0 HIVEP3 59269 broad.mit.edu 37 1 42050328 42050328 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:42050328C>T ENST00000372584.1 - 3 1155 c.141G>A c.(139-141)gaG>gaA p.E47E HIVEP3_ENST00000429157.2_Silent_p.E47E|HIVEP3_ENST00000247584.5_Silent_p.E47E|HIVEP3_ENST00000372583.1_Silent_p.E47E NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 47 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGCGGGGCTCTCTTGGGTGG 0.632000 46 139 0 0 0.000781405 0 0 SLC12A1 6557 broad.mit.edu 37 15 48500269 48500269 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:48500269C>T ENST00000396577.3 + 2 568 c.353C>T c.(352-354)aCc>aTc p.T118I SLC12A1_ENST00000561031.1_Missense_Mutation_p.T118I|SLC12A1_ENST00000380993.3_Missense_Mutation_p.T118I|SLC12A1_ENST00000330289.6_Missense_Mutation_p.T118I|SLC12A1_ENST00000558405.1_Missense_Mutation_p.T118I NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 118 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TATCGTAACACCGGCAGCATC 0.488000 5 43 0 0 3.59834e-05 0 0 PDK2 5164 broad.mit.edu 37 17 48185985 48185985 + Nonsense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:48185985C>T ENST00000503176.1 + 9 1032 c.871C>T c.(871-873)Cga>Tga p.R291* PDK2_ENST00000007708.3_Nonsense_Mutation_p.R227* NM_002611.4 NP_002602.2 Q15119 PDK2_HUMAN pyruvate dehydrogenase kinase, isozyme 2 291 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|nucleus ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.R291R(1) central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 20 GATGAGTGACCGAGGTGGGGG 0.592000 Autosomal Dominant Polycystic Kidney Disease 31 15 0 0 0.000409698 0 0 THBS3 7059 broad.mit.edu 37 1 155169793 155169793 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:155169793G>A ENST00000368378.3 - 15 1840 c.1820C>T c.(1819-1821)cCt>cTt p.P607L THBS3_ENST00000487250.1_5'UTR|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.P487L|THBS3_ENST00000428962.2_3'UTR|THBS3_ENST00000541990.1_Missense_Mutation_p.P136L|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541576.1_Missense_Mutation_p.P4L|RP11-263K19.4_ENST00000447623.1_RNA NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 607 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TACCTGGGTAGGATTGCTCAT 0.552000 13 115 0 0 0.000219431 0 0 AMY2B 280 broad.mit.edu 37 1 104115776 104115776 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:104115776C>T ENST00000361355.4 + 5 1023 c.407C>T c.(406-408)cCt>cTt p.P136L AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 136 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TACTTCAACCCTGGAAGTAGG 0.408000 45 108 0 0 0.000781405 0 0 GFRA3 2676 broad.mit.edu 37 5 137600194 137600194 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:137600194G>A ENST00000274721.3 - 2 381 c.135C>T c.(133-135)ctC>ctT p.L45L GFRA3_ENST00000378362.3_Silent_p.L45L NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 45 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TCCTGGCCTGGAGACAGCTGT 0.557000 20 26 0 0 0.00047179 0 0 CCDC135 84229 broad.mit.edu 37 16 57764843 57764843 + Splice_Site SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:57764843G>A ENST00000360716.3 + 18 2613 c.2391_splice c.e18-1 p.E798_splice CCDC135_ENST00000394337.4_Splice_Site_p.E798_splice|CCDC135_ENST00000336825.8_Splice_Site_p.E733_splice Q8IY82 CC135_HUMAN coiled-coil domain containing 135 798 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 ATGACCACAGGAGACCCAGGA 0.572000 4 47 0 0 0.000602214 0 0 FMO2 2327 broad.mit.edu 37 1 171154965 171154965 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:171154965G>A ENST00000441535.1 + 2 230 c.113G>A c.(112-114)gGa>gAa p.G38E FMO2_ENST00000529935.1_Intron|FMO2_ENST00000209929.7_Missense_Mutation_p.G38E|RP1-45C12.1_ENST00000455124.1_RNA NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 38 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAAGATATTGGAGGAGTGTGG 0.453000 5 35 0 0 3.59834e-05 0 0 DOPEY2 9980 broad.mit.edu 37 21 37605107 37605107 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:37605107G>A ENST00000399151.3 + 15 2441 c.2356G>A c.(2356-2358)Ggt>Agt p.G786S NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 786 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TTCAGGAGCCGGTGATTCCAG 0.532000 20 106 0 0 0.000295444 0 0 KCNH1 3756 broad.mit.edu 37 1 210857430 210857430 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:210857430C>T ENST00000367007.4 - 11 2251 c.2082G>A c.(2080-2082)atG>atA p.M694I KCNH1_ENST00000271751.4_Missense_Mutation_p.M721I NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 721 Calmodulin-binding. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TCTTTCGTTTCATGCGTTCTT 0.562000 20 91 0 0 0.000175454 0 0 BPIFC 254240 broad.mit.edu 37 22 32833812 32833812 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr22:32833812G>A ENST00000397452.1 - 8 792 c.682C>T c.(682-684)Ctg>Ttg p.L228L BPIFC_ENST00000300399.3_Silent_p.L228L|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_Silent_p.L42L Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 228 extracellular region lipopolysaccharide binding|phospholipid binding TAATCCAGCAGAGTGTAGTTG 0.343000 11 19 0 0 0.000673444 0 0 SLC28A1 9154 broad.mit.edu 37 15 85461754 85461754 + Splice_Site SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:85461754G>A ENST00000394573.1 + 10 997 c.e10-1 SLC28A1_ENST00000537216.1_Splice_Site|SLC28A1_ENST00000286749.3_Splice_Site|SLC28A1_ENST00000537624.1_Splice_Site|SLC28A1_ENST00000538177.1_Splice_Site|SLC28A1_ENST00000537703.1_Splice_Site NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTTCCCGGCAGGTTCTGCCCA 0.592000 23 148 0 0 0.000720815 0 0 HDAC6 10013 broad.mit.edu 37 X 48665055 48665055 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:48665055C>T ENST00000334136.5 + 8 752 c.574C>T c.(574-576)Ctc>Ttc p.L192F HDAC6_ENST00000376619.2_Missense_Mutation_p.L192F|HDAC6_ENST00000413163.2_Missense_Mutation_p.L137F|HDAC6_ENST00000444343.2_Missense_Mutation_p.L206F|HDAC6_ENST00000469223.1_3'UTR Q9UBN7 HDAC6_HUMAN histone deacetylase 6 192 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) AGGCTCTGTCCTCAGGCTGGT 0.532000 7 24 0 0 0.000274275 0 0 CACNA1E 777 broad.mit.edu 37 1 181741255 181741255 + Missense_Mutation SNP A A C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:181741255A>C ENST00000526775.1 + 36 5135 c.4970A>C c.(4969-4971)aAg>aCg p.K1657T CACNA1E_ENST00000358338.5_Missense_Mutation_p.K1608T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.K1657T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.K1676T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.K1283T|CACNA1E_ENST00000367573.2_Missense_Mutation_p.K1676T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.K1627T NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1676 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CTTGGGGAGAAGGGCTGTGAG 0.567000 12 80 0 0 0.000151284 0 0 BPIFA1 51297 broad.mit.edu 37 20 31826004 31826004 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:31826004C>T ENST00000354297.4 + 3 375 c.304C>T c.(304-306)Ctg>Ttg p.L102L BPIFA1_ENST00000375413.4_Silent_p.L102L|BPIFA1_ENST00000375422.2_Silent_p.L102L NM_130852.2 NP_570913.1 Q9NP55 PLUNC_HUMAN BPI fold containing family A, member 1 102 innate immune response extracellular region lipid binding GATTCCTGGCCTGAACAACAT 0.542000 12 79 0 0 0.000422831 0 0 SLC4A10 57282 broad.mit.edu 37 2 162834230 162834230 + Splice_Site SNP A A G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:162834230A>G ENST00000375514.5 + 26 3574 c.e26-1 SLC4A10_ENST00000272716.5_Intron|SLC4A10_ENST00000446997.1_Splice_Site|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Splice_Site NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTTTGTCATAAGCTCCCCTTC 0.333000 11 63 0 0 0.00010058 0 0 SPTA1 6708 broad.mit.edu 37 1 158615155 158615155 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:158615155C>T ENST00000368148.3 - 29 4197 c.4017G>A c.(4015-4017)gaG>gaA p.E1339E SPTA1_ENST00000368147.3_Silent_p.E1339E NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1339 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.E1339D(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GAGCCTCTGCCTCCATGTCAG 0.483000 6 22 0 0 8.12818e-05 0 0 TTN 7273 broad.mit.edu 37 2 179472560 179472560 + Nonsense_Mutation SNP C C A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:179472560C>A ENST00000589042.1 - 276 53178 c.52954G>T c.(52954-52956)Gaa>Taa p.E17652* TTN_ENST00000460472.2_Nonsense_Mutation_p.E8587*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E15084*|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E8779*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E16011*|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E8712*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16011 Fibronectin type-III 28. 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) GGCGGTCCTTCCCCTGCGGCA 0.458000 21 25 1.17739e-12 1.92251e-11 0.000878237 1 0 OSMR 9180 broad.mit.edu 37 5 38924659 38924659 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:38924659G>A ENST00000274276.3 + 14 2408 c.2006G>A c.(2005-2007)aGg>aAg p.R669K NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 669 Fibronectin type-III 4. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TCCAAGGCGAGGCAGTGCCAC 0.368000 10 40 0 0 0.000673444 0 0 LONRF2 164832 broad.mit.edu 37 2 100903504 100903504 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:100903504C>T ENST00000393437.3 - 11 2581 c.1942G>A c.(1942-1944)Gaa>Aaa p.E648K LONRF2_ENST00000409647.1_Missense_Mutation_p.E405K NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 648 Lon. E -> Q (in Ref. 1; AAY84832). proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GCGGCAAGTTCTTCATACTCT 0.493000 5 24 0 0 3.59834e-05 0 0 ARID1A 8289 broad.mit.edu 37 1 27088683 27088683 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:27088683C>T ENST00000324856.7 + 7 2663 c.2292C>T c.(2290-2292)tcC>tcT p.S764S ARID1A_ENST00000374152.2_Silent_p.S381S|ARID1A_ENST00000457599.2_Silent_p.S764S NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 764 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGTACAGTTCCCCCCAGCCCG 0.527000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 34 79 0 0 0.000191422 0 0 KLHL1 57626 broad.mit.edu 37 13 70371056 70371056 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:70371056G>A ENST00000377844.4 - 7 2212 c.1453C>T c.(1453-1455)Ctg>Ttg p.L485L KLHL1_ENST00000545028.1_Silent_p.L292L NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 485 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.L485L(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TGGATCCACAGATTTGTTCTC 0.388000 10 58 0 0 0.00010058 0 0 SLC38A4 55089 broad.mit.edu 37 12 47172358 47172358 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:47172358G>A ENST00000447411.1 - 10 1125 c.919C>T c.(919-921)Cat>Tat p.H307Y SLC38A4_ENST00000266579.4_Missense_Mutation_p.H307Y NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 307 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CCACTGTCATGAAGAGAGCCC 0.478000 4 7 0 0 3.59834e-05 0 0 HYDIN 54768 broad.mit.edu 37 16 70989289 70989289 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:70989289C>T ENST00000393567.2 - 40 6455 c.6305G>A c.(6304-6306)gGa>gAa p.G2102E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2102 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGCCTCCTCTCCTTCCTTCAC 0.567000 8 21 0 0 0.000274275 0 0 GBP6 163351 broad.mit.edu 37 1 89844124 89844124 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:89844124C>T ENST00000370456.4 + 5 670 c.577C>T c.(577-579)Cct>Tct p.P193S GBP6_ENST00000535065.1_Missense_Mutation_p.P63S NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 193 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) GAACGGTCACCCTATCACAGA 0.488000 4 29 0 0 0.000602214 0 0 RELN 5649 broad.mit.edu 37 7 103206798 103206798 + Silent SNP T T C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:103206798T>C ENST00000424685.2 - 33 4968 c.4809A>G c.(4807-4809)caA>caG p.Q1603Q RELN_ENST00000343529.5_Silent_p.Q1603Q|RELN_ENST00000428762.1_Silent_p.Q1603Q P78509 RELN_HUMAN reelin 1603 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GAAATCCAGTTTGAGAGCTGT 0.403000 8 14 0 0 0.000157383 0 0 CPA1 1357 broad.mit.edu 37 7 130027771 130027771 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:130027771C>T ENST00000011292.3 + 10 1329 c.1179C>T c.(1177-1179)gcC>gcT p.A393A CPA1_ENST00000484324.1_Silent_p.A305A NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 393 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) TGCTGCCAGCCTCCCAGATCA 0.587000 51 155 0 0 0.000781405 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356406 37356406 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:37356406G>A ENST00000217420.1 + 2 965 c.702G>A c.(700-702)ccG>ccA p.P234P NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 234 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) ACAGCTTCCCGGGGCTGCCCG 0.597000 8 33 0 0 0.000442599 0 0 KIF4B 285643 broad.mit.edu 37 5 154394116 154394116 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:154394116C>T ENST00000435029.4 + 1 857 c.697C>T c.(697-699)Cgc>Tgc p.R233C NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 233 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTGCAGCTTTCGCTCCAAGCT 0.453000 14 67 0 0 0.000308642 0 0 KHSRP 8570 broad.mit.edu 37 19 6418740 6418740 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:6418740C>T ENST00000398148.3 - 8 845 c.753G>A c.(751-753)aaG>aaA p.K251K NM_003685.2 NP_003676.2 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 251 Gly-rich.|KH 2. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 TCTCCCCGCCCTTGCCAATGA 0.672000 8 62 0 0 0.000673444 0 0 FAM47A 158724 broad.mit.edu 37 X 34148193 34148193 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:34148193C>T ENST00000346193.3 - 1 2254 c.2203G>A c.(2203-2205)Gga>Aga p.G735R NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 735 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GCAATTGGTCCATAAAGATCG 0.428000 23 77 0 0 0.000586117 0 0 NYAP1 222950 broad.mit.edu 37 7 100087049 100087049 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:100087049G>A ENST00000423930.1 + 4 1864 c.1705G>A c.(1705-1707)Gct>Act p.A569T NYAP1_ENST00000300179.2_Missense_Mutation_p.A569T|NYAP1_ENST00000454988.1_Missense_Mutation_p.A512T Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 569 GAGCCTCAAGGCTGGGGGGGT 0.647000 24 28 0 0 0.000720815 0 0 DNAH7 56171 broad.mit.edu 37 2 196729046 196729046 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:196729046C>T ENST00000312428.6 - 41 7433 c.7333G>A c.(7333-7335)Gat>Aat p.D2445N NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2445 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTGGTTTTATCCCGCTGGCGA 0.453000 11 24 0 0 0.000151284 0 0 GPR119 139760 broad.mit.edu 37 X 129519283 129519283 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:129519283G>A ENST00000276218.2 - 1 228 c.139C>T c.(139-141)Ctg>Ttg p.L47L NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 47 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 GCCACAGCCAGATTCAAGGTG 0.552000 26 63 0 0 0.00047179 0 0 ZNF530 348327 broad.mit.edu 37 19 58117970 58117970 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:58117970C>T ENST00000332854.6 + 3 1297 c.1077C>T c.(1075-1077)tcC>tcT p.S359S ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GTGGAAAATCCTTTAGCCATA 0.448000 9 59 0 0 0.000673444 0 0 TYMS 7298 broad.mit.edu 37 18 672885 672885 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:672885C>T ENST00000323274.10 + 7 969 c.830C>T c.(829-831)cCa>cTa p.P277L TYMS_ENST00000323224.7_Missense_Mutation_p.P243L|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323250.5_Missense_Mutation_p.P194L|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000383578.3_3'UTR NM_001071.2 NP_001062.1 P04818 TYSY_HUMAN thymidylate synthetase 277 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2) 8 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) AGACCTTTCCCAAAGCTCAGG 0.388000 10 86 0 0 6.40141e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 15 19 0 0 0.000422831 0 0 IL20RB 53833 broad.mit.edu 37 3 136676961 136676961 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:136676961G>A ENST00000329582.4 + 1 255 c.6G>A c.(4-6)caG>caA p.Q2Q IL20RB_ENST00000309741.5_5'UTR|IL20RB_ENST00000484501.1_3'UTR NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 2 integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 ACCAAATGCAGACTTTCACAA 0.368000 10 26 0 0 6.40141e-05 0 0 DPP3 10072 broad.mit.edu 37 11 66249829 66249829 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:66249829C>T ENST00000532677.1 + 2 616 c.215C>T c.(214-216)tCc>tTc p.S72F DPP3_ENST00000541961.1_Missense_Mutation_p.S53F|DPP3_ENST00000530165.1_Missense_Mutation_p.S53F|DPP3_ENST00000360510.2_Missense_Mutation_p.S53F|DPP3_ENST00000531863.1_Missense_Mutation_p.S73F|DPP3_ENST00000453114.1_Missense_Mutation_p.S53F NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 53 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 CTTCAGACCTCCCCTGAGGCC 0.667000 17 38 0 0 0.00074312 0 0 IGHV6-1 28385 broad.mit.edu 37 14 106405688 106405688 + RNA SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:106405688C>T ENST00000390593.2 - 0 337 TTGGATGTGTCTGGGTTGATG 0.498000 25 82 0 0 0.00047179 0 0 HES1 3280 broad.mit.edu 37 3 193855629 193855629 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:193855629C>T ENST00000232424.3 + 4 686 c.450C>T c.(448-450)atC>atT p.I150I NM_005524.3 NP_005515.1 Q14469 HES1_HUMAN hes family bHLH transcription factor 1 150 endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway nucleus histone deacetylase binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 6 all_cancers(143;7.3e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.48e-05) TGACCCAGATCAATGCCATGA 0.716000 10 60 0 0 6.40141e-05 0 0 ABCA5 23461 broad.mit.edu 37 17 67302982 67302982 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:67302982G>A ENST00000392676.3 - 6 736 c.672C>T c.(670-672)taC>taT p.Y224Y ABCA5_ENST00000588877.1_Silent_p.Y224Y|ABCA5_ENST00000392677.2_Silent_p.Y224Y Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 224 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CTATAACTAGGTATATTAAAA 0.323000 11 13 0 0 0.00010058 0 0 TMC1 117531 broad.mit.edu 37 9 75387400 75387400 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:75387400C>T ENST00000297784.5 + 13 1353 c.813C>T c.(811-813)ttC>ttT p.F271F TMC1_ENST00000340019.3_Silent_p.F271F|TMC1_ENST00000396237.3_Silent_p.F271F NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 271 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 GGATGAATTTCAGGTTGCCGC 0.398000 38 37 0 0 0.000228196 0 0 PCLO 27445 broad.mit.edu 37 7 82546123 82546123 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:82546123G>A ENST00000423517.2 - 7 11516 c.11179C>T c.(11179-11181)Cca>Tca p.P3727S PCLO_ENST00000437081.1_Missense_Mutation_p.P447S|PCLO_ENST00000333891.8_Missense_Mutation_p.P3727S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3658 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCAGGAGGTGGATTTGGCAGA 0.423000 6 21 0 0 0.000274275 0 0 TEX101 83639 broad.mit.edu 37 19 43920687 43920687 + Missense_Mutation SNP G G T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:43920687G>T ENST00000602198.1 + 6 867 c.425G>T c.(424-426)tGg>tTg p.W142L TEX101_ENST00000598265.1_Missense_Mutation_p.W124L|TEX101_ENST00000253435.7_Missense_Mutation_p.W142L|TEX101_ENST00000601707.1_3'UTR NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 124 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) TCTCAGTTTTGGGAGTTCAGT 0.488000 32 171 1.08052e-11 1.76115e-10 0.000814825 1 0 MYH8 4626 broad.mit.edu 37 17 10293814 10293814 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:10293814C>T ENST00000403437.2 - 40 5865 c.5771G>A c.(5770-5772)cGa>cAa p.R1924Q CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1924 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GCTCTTCACTCGCAATTTGTT 0.468000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 27 151 0 0 0.000720815 0 0 RP1L1 94137 broad.mit.edu 37 8 10466293 10466293 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:10466293C>T ENST00000382483.3 - 4 5538 c.5315G>A c.(5314-5316)aGa>aAa p.R1772K NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1772 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TTTCCCTTCTCTCTCCTGAGC 0.577000 22 105 0 0 0.000878237 0 0 HIPK2 28996 broad.mit.edu 37 7 139416787 139416787 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:139416787G>A ENST00000406875.3 - 2 141 c.47C>T c.(46-48)tCc>tTc p.S16F HIPK2_ENST00000428878.2_Missense_Mutation_p.S16F|HIPK2_ENST00000342645.6_Missense_Mutation_p.S16F NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 16 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GGTGTGAGGGGAGAAAACTTG 0.463000 14 30 0 0 0.000422831 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106083958 106083958 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:106083958C>T ENST00000357242.5 + 10 1737 c.1563C>T c.(1561-1563)tcC>tcT p.S521S TBC1D8B_ENST00000310452.2_Silent_p.S521S|TBC1D8B_ENST00000276175.3_Silent_p.S515S NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 521 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTGAGCAGTCCTTAGGGACCT 0.433000 8 18 0 0 0.000673444 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26881656 26881656 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:26881656G>A ENST00000374168.2 + 10 925 c.771G>A c.(769-771)acG>acA p.T257T RPS6KA1_ENST00000530003.1_Silent_p.T241T|RPS6KA1_ENST00000531382.1_Silent_p.T266T|RPS6KA1_ENST00000526792.1_Silent_p.T165T|RPS6KA1_ENST00000374162.2_Silent_p.T165T|RPS6KA1_ENST00000374166.4_Intron NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 257 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.T266T(1) lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) AGATGCTGACGGGCTCCCTGC 0.592000 6 51 0 0 8.12818e-05 0 0 PDE6B 5158 broad.mit.edu 37 4 651250 651250 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:651250G>A ENST00000255622.6 + 10 1411 c.1368G>A c.(1366-1368)gtG>gtA p.V456V PDE6B_ENST00000429163.2_Silent_p.V177V|PDE6B_ENST00000496514.1_Silent_p.V456V NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 456 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 TTTACCACGTGAAGTGCGACA 0.612000 8 66 0 0 6.40141e-05 0 0 NLRP3 114548 broad.mit.edu 37 1 247587448 247587448 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:247587448C>T ENST00000366497.2 + 4 1483 c.703C>T c.(703-705)Ctg>Ttg p.L235L NLRP3_ENST00000391827.2_Silent_p.L235L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.L235L|NLRP3_ENST00000336119.3_Silent_p.L235L|NLRP3_ENST00000366496.2_Silent_p.L235L|NLRP3_ENST00000391828.3_Silent_p.L235L NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 235 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAAAACAATCCTGGCCAGGAA 0.532000 10 56 0 0 0.000442599 0 0 KIAA0947 23379 broad.mit.edu 37 5 5462224 5462224 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:5462224C>T ENST00000296564.7 + 13 2999 c.2777C>T c.(2776-2778)cCa>cTa p.P926L NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 926 p.P926Q(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AGCATTTCACCAGAAGTTTCT 0.398000 13 40 0 0 0.00010058 0 0 RHCG 51458 broad.mit.edu 37 15 90023616 90023616 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:90023616C>T ENST00000268122.4 - 4 614 c.546G>A c.(544-546)atG>atA p.M182I RHCG_ENST00000544600.1_Missense_Mutation_p.M182I NM_016321.1 NP_057405.1 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 182 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) TGTGGATGGTCATGGAGCCTC 0.577000 13 130 0 0 0.000151284 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993513 140993513 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:140993513C>T ENST00000285879.4 + 4 609 c.323C>T c.(322-324)tCc>tTc p.S108F MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 108 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) GGGAAGGACTCCCTGTCTCCT 0.547000 HNSCC(15;0.026) 26 24 0 0 0.000720815 0 0 KIAA0232 9778 broad.mit.edu 37 4 6865866 6865866 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:6865866C>T ENST00000307659.5 + 7 4212 c.3757C>T c.(3757-3759)Cct>Tct p.P1253S KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1253S NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 1253 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 TTGTCAGTTTCCTGCTTATGA 0.378000 6 45 0 0 0.000157383 0 0 AFF2 2334 broad.mit.edu 37 X 148044319 148044319 + Missense_Mutation SNP A A C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:148044319A>C ENST00000370460.2 + 13 3244 c.2765A>C c.(2764-2766)gAg>gCg p.E922A AFF2_ENST00000286437.5_Missense_Mutation_p.E563A|AFF2_ENST00000370457.5_Missense_Mutation_p.E889A|AFF2_ENST00000342251.3_Missense_Mutation_p.E889A NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 922 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CCACTGCCAGAGGACCCTCCA 0.443000 6 6 0 0 0.000274275 0 0 KIAA0947 23379 broad.mit.edu 37 5 5462223 5462223 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:5462223C>T ENST00000296564.7 + 13 2998 c.2776C>T c.(2776-2778)Cca>Tca p.P926S NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 926 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AAGCATTTCACCAGAAGTTTC 0.393000 13 41 0 0 0.00010058 0 0 GEM 2669 broad.mit.edu 37 8 95262715 95262715 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:95262715C>T ENST00000297596.2 - 5 978 c.714G>A c.(712-714)caG>caA p.Q238Q GEM_ENST00000396194.2_Silent_p.Q238Q NM_005261.3 NP_005252.1 P55040 GEM_HUMAN GTP binding protein overexpressed in skeletal muscle 238 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) GAAGGCGCACCTGTCGCACAA 0.582000 5 30 0 0 3.59834e-05 0 0 SLC27A2 11001 broad.mit.edu 37 15 50519357 50519357 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:50519357G>A ENST00000267842.5 + 7 1671 c.1439G>A c.(1438-1440)aGa>aAa p.R480K SLC27A2_ENST00000380902.4_Missense_Mutation_p.R427K|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R245K NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 480 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) TTCCACGACAGAGTTGGAGAT 0.393000 6 59 0 0 8.12818e-05 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 57 0 0 0.00024832 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473085 22473085 + RNA SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:22473085C>T ENST00000557788.2 - 0 185 CCAGCCCCTTCCCTGGGGGCT 0.572000 14 249 0 0 0.000308642 0 0 PXDN 7837 broad.mit.edu 37 2 1652770 1652770 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:1652770C>T ENST00000252804.4 - 17 2832 c.2782G>A c.(2782-2784)Gac>Aac p.D928N NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 928 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) CTGGCCAGGTCGCGGATGCTG 0.692000 8 20 0 0 6.40141e-05 0 0 CTR9 9646 broad.mit.edu 37 11 10783502 10783502 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:10783502C>T ENST00000361367.2 + 7 1176 c.750C>T c.(748-750)tcC>tcT p.S250S NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 250 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AGGCTGATTCCATTAAAAATG 0.338000 6 11 0 0 8.12818e-05 0 0 IFNAR2 3455 broad.mit.edu 37 21 34617308 34617308 + Silent SNP C C A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:34617308C>A ENST00000404220.3 + 4 479 c.150C>A c.(148-150)tcC>tcA p.S50S IFNAR2_ENST00000342136.4_Silent_p.S50S|IFNAR2_ENST00000382241.3_Silent_p.S50S|IFNAR2_ENST00000382264.3_Silent_p.S50S|IFNAR2_ENST00000420068.1_Intron|IFNAR2_ENST00000413881.1_5'UTR|IFNAR2_ENST00000342101.3_Silent_p.S50S P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 50 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) ATTTCCGGTCCATCTTATCAT 0.353000 14 89 1.3612e-06 2.19883e-05 0.000308642 1 0 TMEM26 219623 broad.mit.edu 37 10 63170422 63170422 + Nonsense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:63170422C>T ENST00000399298.3 - 6 1133 c.765G>A c.(763-765)tgG>tgA p.W255* TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 255 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) TTCCGATGTTCCACAGATCGG 0.483000 5 15 0 0 3.59834e-05 0 0 KCND2 3751 broad.mit.edu 37 7 119915143 119915143 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:119915143G>A ENST00000331113.4 + 1 1422 c.457G>A c.(457-459)Gat>Aat p.D153N NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 153 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGACGACGCGGATACCGACAC 0.632000 11 73 0 0 6.40141e-05 0 0 COL5A1 1289 broad.mit.edu 37 9 137623968 137623968 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:137623968G>A ENST00000371817.3 + 9 1798 c.1384G>A c.(1384-1386)Gag>Aag p.E462K NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 462 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.E462K(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGCGATTATCGAGCCGGTGAG 0.582000 18 66 0 0 0.00074312 0 0 PTPRF 5792 broad.mit.edu 37 1 44085235 44085235 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:44085235C>T ENST00000359947.4 + 28 5263 c.4923C>T c.(4921-4923)ctC>ctT p.L1641L PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.L1632L|PTPRF_ENST00000438120.1_Silent_p.L1632L|PTPRF_ENST00000422171.2_Silent_p.L1000L|PTPRF_ENST00000372414.3_Silent_p.L1641L NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1641 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCATGGAGCTCGAGTTCAAGG 0.652000 15 49 0 0 0.000229342 0 0 MYH8 4626 broad.mit.edu 37 17 10299683 10299683 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:10299683C>T ENST00000403437.2 - 33 4711 c.4617G>A c.(4615-4617)gaG>gaA p.E1539E CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1539 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTTCACATTTCTCTTGTTCTA 0.373000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 8 33 0 0 0.000442599 0 0 RPL7L1 285855 broad.mit.edu 37 6 42851233 42851233 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:42851233C>T ENST00000493763.1 + 3 468 c.165C>T c.(163-165)ttC>ttT p.F55F RPL7L1_ENST00000602561.1_Silent_p.F55F|RPL7L1_ENST00000424341.2_Silent_p.F55F|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000304734.5_Silent_p.F55F NM_198486.2 NP_940888.2 Q6DKI1 RL7L_HUMAN ribosomal protein L7-like 1 55 translation large ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 Colorectal(47;0.196) Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088) TGGAATCATTCCTACATGATT 0.448000 16 96 0 0 0.000422831 0 0 SULT2A1 6822 broad.mit.edu 37 19 48378071 48378071 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:48378071C>T ENST00000222002.3 - 5 727 c.588G>A c.(586-588)gaG>gaA p.E196E NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 196 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) GACAGATCTTCTCTATGGTTC 0.433000 17 74 0 0 0.000132079 0 0 EPHA3 2042 broad.mit.edu 37 3 89448538 89448538 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:89448538C>T ENST00000336596.2 + 7 1727 c.1502C>T c.(1501-1503)cCt>cTt p.P501L EPHA3_ENST00000494014.1_Missense_Mutation_p.P501L|EPHA3_ENST00000452448.2_Missense_Mutation_p.P501L NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 501 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AGCCTCAAGCCTGACACTATA 0.428000 TSP Lung(6;0.00050) 14 29 0 0 0.000308642 0 0 SYNJ1 8867 broad.mit.edu 37 21 34003881 34003881 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:34003881C>T ENST00000382491.3 - 28 4129 c.4005G>A c.(4003-4005)cgG>cgA p.R1335R SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.R1421R|SYNJ1_ENST00000322229.7_Silent_p.R1382R NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1382 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GGGATTGACTCCGAGCTGGAA 0.468000 5 21 0 0 0.000602214 0 0 CRYBA4 1413 broad.mit.edu 37 22 27019281 27019281 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr22:27019281C>T ENST00000354760.3 + 3 158 c.123C>T c.(121-123)ttC>ttT p.F41F CRYBA4_ENST00000466315.1_Intron NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 41 Beta/gamma crystallin 'Greek key' 1. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 AGCTTGGCTTCGAGACTGTGC 0.602000 30 60 0 0 0.00058488 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545621 234545621 + Missense_Mutation SNP T T A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:234545621T>A ENST00000344644.5 + 1 522 c.453T>A c.(451-453)gaT>gaA p.D151E UGT1A10_ENST00000373445.1_Missense_Mutation_p.D151E|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) ATCCTTTTGATACCTGTGGCT 0.403000 15 72 0 0 0.000219431 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421446 62421446 + Missense_Mutation SNP C C G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:62421446C>G ENST00000245663.4 - 2 815 c.665G>C c.(664-666)gGc>gCc p.G222A ZBTB46_ENST00000302995.2_Missense_Mutation_p.G222A|ZBTB46_ENST00000395104.1_Missense_Mutation_p.G222A NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 222 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) AGGCCCGTAGCCCACGTCTCC 0.587000 5 40 0 0 8.12818e-05 0 0 VSX2 338917 broad.mit.edu 37 14 74711925 74711925 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:74711925C>T ENST00000261980.2 + 3 603 c.513C>T c.(511-513)caC>caT p.H171H NM_182894.2 NP_878314.1 P58304 VSX2_HUMAN visual system homeobox 2 171 multicellular organismal development|response to stimulus|visual perception nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00154) ACGAAGCCCACTACCCAGACG 0.562000 6 25 0 0 3.59834e-05 0 0 ZFP82 284406 broad.mit.edu 37 19 36884606 36884606 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:36884606G>A ENST00000392161.3 - 5 878 c.636C>T c.(634-636)caC>caT p.H212H ZFP82_ENST00000392171.1_Silent_p.H212H NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTCGAGTAAGGTGTGCAGTCT 0.423000 12 64 0 0 6.40141e-05 0 0 SLC40A1 30061 broad.mit.edu 37 2 190428646 190428646 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:190428646C>T ENST00000261024.2 - 7 1492 c.1066G>A c.(1066-1068)Gga>Aga p.G356R NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 356 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) GCTACAGTTCCCATTATTCCA 0.473000 9 11 0 0 0.000274275 0 0 BSND 7809 broad.mit.edu 37 1 55464880 55464880 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:55464880C>T ENST00000371265.4 + 1 275 c.21C>T c.(19-21)ttC>ttT p.F7F NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 7 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex p.F7F(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 AGAAGACCTTCCGGATCGGCT 0.617000 38 92 0 0 0.000589545 0 0 SLC16A3 9123 broad.mit.edu 37 17 80196792 80196792 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:80196792C>T ENST00000581287.1 + 4 3660 c.1338C>T c.(1336-1338)ttC>ttT p.F446F SLC16A3_ENST00000582743.1_Silent_p.F446F|SLC16A3_ENST00000392341.1_Silent_p.F446F|SLC16A3_ENST00000392339.1_Silent_p.F446F NM_001206951.1|NM_001206952.1 NP_001193880.1|NP_001193881.1 O15427 MOT4_HUMAN solute carrier family 16 (monocarboxylate transporter), member 3 446 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) TGGAGCATTTCCTGAAGGCTG 0.642000 64 73 0 0 0.000781405 0 0 MARK3 4140 broad.mit.edu 37 14 103958222 103958222 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:103958222C>T ENST00000429436.2 + 15 2205 c.1695C>T c.(1693-1695)ttC>ttT p.F565F MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000440884.3_Silent_p.F486F|MARK3_ENST00000335102.5_Silent_p.F588F|MARK3_ENST00000303622.9_Silent_p.F565F|MARK3_ENST00000553942.1_Silent_p.F565F|MARK3_ENST00000216288.7_Silent_p.F549F|MARK3_ENST00000416682.2_Silent_p.F588F NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 565 ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) GTAGCACTTTCCACGGCCAGC 0.577000 11 23 0 0 0.00010058 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485020 97485020 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:97485020G>A ENST00000376705.2 + 2 1008 c.984G>A c.(982-984)atG>atA p.M328I NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 328 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) TGACTTTCATGAACGAGAGTG 0.502000 8 41 0 0 6.40141e-05 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29907155 29907155 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:29907155C>T ENST00000308713.5 - 4 1065 c.538G>A c.(538-540)Ggc>Agc p.G180S SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G136S|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G110S NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 180 CUB 1. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TACCCTTCGCCCTCGGAGATG 0.567000 6 81 0 0 0.000157383 0 0 MAP1A 4130 broad.mit.edu 37 15 43819178 43819178 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:43819178C>T ENST00000382031.1 + 5 6252 c.6221C>T c.(6220-6222)cCc>cTc p.P2074L MAP1A_ENST00000300231.5_Missense_Mutation_p.P1836L|MAP1A_ENST00000399453.1_Missense_Mutation_p.P1836L P78559 MAP1A_HUMAN microtubule-associated protein 1A 1836 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CCCACTACTCCCTCATGGCTG 0.612000 8 69 0 0 0.000274275 0 0 CSHL1 1444 broad.mit.edu 37 17 61988101 61988101 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:61988101G>A ENST00000392824.4 - 2 255 c.194C>T c.(193-195)gCg>gTg p.A65V CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 65 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 CCCCTGACCCGCACCCATTCC 0.532000 34 249 0 0 0.000437636 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227583 56227583 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:56227583G>A ENST00000341744.3 - 4 709 c.390C>T c.(388-390)ttC>ttT p.F130F PMEPA1_ENST00000395816.3_Silent_p.F80F|PMEPA1_ENST00000395814.1_Silent_p.F80F|PMEPA1_ENST00000347215.4_Silent_p.F95F|PMEPA1_ENST00000265626.4_Silent_p.F80F NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 130 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GGAAGCGGTGGAAGCGCTCCC 0.711000 6 15 0 0 0.000157383 0 0 STRA6 64220 broad.mit.edu 37 15 74472546 74472546 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:74472546C>T ENST00000323940.5 - 19 2124 c.1879G>A c.(1879-1881)Gga>Aga p.G627R STRA6_ENST00000416286.3_Missense_Mutation_p.G619R|STRA6_ENST00000535552.1_Missense_Mutation_p.G664R|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000449139.2_Missense_Mutation_p.G627R|STRA6_ENST00000574278.1_Missense_Mutation_p.G642R|STRA6_ENST00000423167.2_Missense_Mutation_p.G618R|STRA6_ENST00000395105.4_Missense_Mutation_p.G627R|STRA6_ENST00000563965.1_Missense_Mutation_p.G666R NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 627 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 GGCCTAGCTCCCTTGGCCATG 0.637000 29 167 0 0 0.000814825 0 0 INHBB 3625 broad.mit.edu 37 2 121106796 121106796 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:121106796G>A ENST00000295228.3 + 2 616 c.570G>A c.(568-570)gaG>gaA p.E190E NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 190 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) ACGTCCTGGAGAAGGGCAGCC 0.582000 18 85 0 0 0.00074312 0 0 GRIK3 2899 broad.mit.edu 37 1 37270629 37270629 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:37270629C>T ENST00000373091.3 - 15 2540 c.2524G>A c.(2524-2526)Gag>Aag p.E842K GRIK3_ENST00000373093.4_Missense_Mutation_p.E842K NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 842 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TACACAAACTCGCCCACGGCC 0.572000 10 61 0 0 0.000442599 0 0 TTN 7273 broad.mit.edu 37 2 179665300 179665300 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:179665300C>T ENST00000589042.1 - 4 629 c.405G>A c.(403-405)gtG>gtA p.V135V TTN_ENST00000460472.2_Silent_p.V135V|TTN_ENST00000360870.5_Silent_p.V135V|TTN_ENST00000342992.6_Silent_p.V135V|TTN_ENST00000342175.6_Silent_p.V135V|TTN_ENST00000591111.1_Silent_p.V135V|TTN_ENST00000359218.5_Silent_p.V135V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 135 Ig-like 2. 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) GGTAGAACTTCACCACAGGTG 0.507000 6 64 0 0 3.59834e-05 0 0 TARBP1 6894 broad.mit.edu 37 1 234541794 234541794 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:234541794G>A ENST00000040877.1 - 24 3843 c.3844C>T c.(3844-3846)Cac>Tac p.H1282Y TARBP1_ENST00000483404.1_5'UTR NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1282 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) CTAAAATTGTGATTGAAACAC 0.378000 28 76 0 0 0.000491102 0 0 NLRP2 55655 broad.mit.edu 37 19 55494629 55494629 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:55494629G>A ENST00000543010.1 + 6 1706 c.1563G>A c.(1561-1563)gaG>gaA p.E521E NLRP2_ENST00000391721.4_Silent_p.E497E|NLRP2_ENST00000448584.2_Silent_p.E521E|NLRP2_ENST00000537859.1_Silent_p.E499E|NLRP2_ENST00000427260.2_Silent_p.E498E|NLRP2_ENST00000538819.1_Silent_p.E497E|NLRP2_ENST00000263437.6_Silent_p.E518E|NLRP2_ENST00000339757.7_Silent_p.E499E NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 521 NACHT.|Poly-Glu. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGAAGGAGGAGGAAGAGGATA 0.567000 12 77 0 0 0.000308642 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81060555 81060555 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:81060555C>T ENST00000334512.5 + 17 2447 c.1875C>T c.(1873-1875)ccC>ccT p.P625P NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 625 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCAACTGGCCCGCCTCGGTGC 0.637000 6 25 0 0 8.12818e-05 0 0 NPFFR2 10886 broad.mit.edu 37 4 73012782 73012782 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:73012782C>T ENST00000308744.6 + 4 920 c.822C>T c.(820-822)atC>atT p.I274I NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.I172I|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Silent_p.I175I NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 274 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TCCTAGCCATCACCATTATGT 0.408000 8 66 0 0 0.000274275 0 0 COL11A1 1301 broad.mit.edu 37 1 103428302 103428302 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:103428302C>T ENST00000358392.2 - 39 3284 c.2967G>A c.(2965-2967)gaG>gaA p.E989E COL11A1_ENST00000512756.1_Silent_p.E861E|COL11A1_ENST00000370096.3_Silent_p.E977E|COL11A1_ENST00000353414.4_Silent_p.E938E NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 977 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGGACCAGTCTCACCGGTTG 0.443000 9 23 0 0 0.000673444 0 0 KIAA2022 340533 broad.mit.edu 37 X 73965442 73965442 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:73965442C>T ENST00000373468.1 - 2 695 c.44G>A c.(43-45)gGa>gAa p.G15E KIAA2022_ENST00000055682.5_Missense_Mutation_p.G15E Q5QGS0 K2022_HUMAN KIAA2022 15 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AGTGTTTTCTCCGTTGGCTGA 0.358000 4 13 0 0 0.00024832 0 0 DSE 29940 broad.mit.edu 37 6 116720663 116720663 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:116720663G>A ENST00000331677.3 + 3 694 c.250G>A c.(250-252)Gaa>Aaa p.E84K DSE_ENST00000359564.2_Missense_Mutation_p.E84K|DSE_ENST00000452085.3_Missense_Mutation_p.E84K|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.E103K Q9UL01 DSE_HUMAN dermatan sulfate epimerase 84 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CAGCCCCTTGGAATACCTCCC 0.587000 9 27 0 0 0.000274275 0 0 FASTKD2 22868 broad.mit.edu 37 2 207651540 207651540 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:207651540C>T ENST00000236980.6 + 8 1859 c.1511C>T c.(1510-1512)tCa>tTa p.S504L FASTKD2_ENST00000403094.3_Missense_Mutation_p.S504L|FASTKD2_ENST00000402774.3_Missense_Mutation_p.S504L NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 504 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) GCAGTATATTCATTTTGCTTG 0.403000 15 23 0 0 0.000219431 0 0 PPFIA4 8497 broad.mit.edu 37 1 203015102 203015102 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:203015102C>T ENST00000367240.2 + 8 1519 c.992C>T c.(991-993)tCc>tTc p.S331F PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S331F|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S38F O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 259 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 AACAAGGAGTCCCTGCACCGC 0.577000 42 210 0 0 0.000781405 0 0 NLRP8 126205 broad.mit.edu 37 19 56487605 56487605 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:56487605G>A ENST00000291971.3 + 8 2883 c.2812G>A c.(2812-2814)Gat>Aat p.D938N NLRP8_ENST00000590542.1_Missense_Mutation_p.D919N NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 938 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) TAGCCTGAAGGATGATGGGGT 0.463000 9 34 0 0 0.000442599 0 0 KRT5 3852 broad.mit.edu 37 12 52913666 52913666 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:52913666C>T ENST00000252242.4 - 1 805 c.415G>A c.(415-417)Ggt>Agt p.G139S NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 139 Gly-rich.|Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TCTTGGATACCTCCAGGAGGG 0.622000 11 48 0 0 0.000673444 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100004335 100004335 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:100004335G>A ENST00000398027.2 - 12 1399 c.1152C>T c.(1150-1152)tcC>tcT p.S384S ZCWPW1_ENST00000324725.6_Silent_p.S264S|ZCWPW1_ENST00000360951.4_Silent_p.S385S|ZCWPW1_ENST00000490721.1_Silent_p.S264S NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 384 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATAGCTCCAGGGACAGCTCCT 0.418000 9 74 0 0 6.40141e-05 0 0 PTH2R 5746 broad.mit.edu 37 2 209358320 209358320 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:209358320C>T ENST00000272847.2 + 13 1802 c.1589C>T c.(1588-1590)tCc>tTc p.S530F PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 530 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GAGAAGCCTTCCAGGCCTATG 0.502000 27 76 0 0 0.000720815 0 0 SCN10A 6336 broad.mit.edu 37 3 38768220 38768220 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:38768220G>A ENST00000449082.2 - 16 2963 c.2964C>T c.(2962-2964)atC>atT p.I988I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 988 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCGGATTAGCGATGAAGTCAC 0.572000 18 33 0 0 0.00074312 0 0 TMEM147 10430 broad.mit.edu 37 19 36036708 36036708 + Missense_Mutation SNP T T G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:36036708T>G ENST00000222284.5 + 1 212 c.67T>G c.(67-69)Tgc>Ggc p.C23G TMEM147_ENST00000392204.2_5'UTR|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.C23G NM_032635.3 NP_116024.1 Q9BVK8 TM147_HUMAN transmembrane protein 147 23 endoplasmic reticulum membrane|integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CACCTACAAGTGCAGCGGCCT 0.682000 13 44 0 0 0.000566183 0 0 CBX2 84733 broad.mit.edu 37 17 77755739 77755739 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:77755739G>A ENST00000269399.5 + 4 469 c.427G>A c.(427-429)Gag>Aag p.E143K CBX2_ENST00000310942.4_Intron NM_032647.3 NP_116036.1 Q14781 CBX2_HUMAN chromobox homolog 2 0 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CGGAAAACAGGAGCCCCCTTT 0.657000 15 147 0 0 0.000219431 0 0 OR6K6 128371 broad.mit.edu 37 1 158724725 158724725 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:158724725C>T ENST00000368144.2 + 1 216 c.120C>T c.(118-120)ttC>ttT p.F40F NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TGACTGAGTTCCTCTTCTCTA 0.428000 11 86 0 0 6.40141e-05 0 0 MTUS2 23281 broad.mit.edu 37 13 29600487 29600487 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:29600487C>T ENST00000431530.3 + 1 1740 c.1682C>T c.(1681-1683)cCc>cTc p.P561L NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 551 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 CCTACAACACCCAGTAGCAGT 0.512000 9 46 0 0 0.000673444 0 0 INPP4A 3631 broad.mit.edu 37 2 99204045 99204045 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:99204045G>A ENST00000074304.5 + 26 3301 c.2908G>A c.(2908-2910)Ggg>Agg p.G970R INPP4A_ENST00000523221.1_Missense_Mutation_p.G970R|INPP4A_ENST00000409016.3_Missense_Mutation_p.G931R|INPP4A_ENST00000409463.1_Missense_Mutation_p.G299R|INPP4A_ENST00000409851.3_Missense_Mutation_p.G965R|INPP4A_ENST00000545415.1_Missense_Mutation_p.G931R NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 970 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 GCCTCCCGAAGGGACTTACGG 0.403000 28 109 0 0 0.000339439 0 0 TULP1 7287 broad.mit.edu 37 6 35478663 35478663 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:35478663C>T ENST00000229771.6 - 5 553 c.474G>A c.(472-474)agG>agA p.R158R TULP1_ENST00000322263.4_Silent_p.R105R NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 158 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 CCTTGGCCCTCCTCTCCTTCA 0.597000 22 92 0 0 0.000295444 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433836 72433836 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:72433836C>T ENST00000373517.3 - 1 848 c.493G>A c.(493-495)Gaa>Aaa p.E165K NAP1L2_ENST00000536638.1_Missense_Mutation_p.E23K NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 165 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TATTCACATTCCTCTTCTGTA 0.378000 41 57 0 0 0.000680045 0 0 MYF5 4617 broad.mit.edu 37 12 81112667 81112667 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:81112667C>T ENST00000228644.3 + 3 757 c.605C>T c.(604-606)tCc>tTc p.S202F NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 202 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 AACTCCTTATCCAGCTTGGAT 0.438000 33 67 0 0 0.000191422 0 0 GRM3 2913 broad.mit.edu 37 7 86479836 86479836 + Nonsense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:86479836G>A ENST00000439827.1 + 4 1646 c.1475G>A c.(1474-1476)tGg>tAg p.W492* GRM3_ENST00000546348.1_Missense_Mutation_p.G440R|GRM3_ENST00000361669.2_Missense_Mutation_p.G848R|GRM3_ENST00000536043.1_Missense_Mutation_p.G720R|GRM3_ENST00000394720.2_Nonsense_Mutation_p.W490* Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 0 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CAGTGTCAGTGGAACTGGGAC 0.478000 8 19 0 0 0.000442599 0 0 NCOA7 135112 broad.mit.edu 37 6 126242091 126242091 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:126242091C>T ENST00000368357.3 + 13 2599 c.2247C>T c.(2245-2247)atC>atT p.I749I NCOA7_ENST00000392477.2_Silent_p.I749I|NCOA7_ENST00000229634.9_Silent_p.I634I NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 749 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CATTTCAGATCATCACTGTTG 0.463000 4 12 0 0 0.00024832 0 0 GCNT3 9245 broad.mit.edu 37 15 59910437 59910437 + Translation_Start_Site SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:59910437G>A ENST00000396065.1 + 0 448 GCNT3_ENST00000560585.1_De_novo_Start_InFrame NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATTCTGTGACGATGGTTCAAT 0.502000 10 52 0 0 6.40141e-05 0 0 CNGA2 1260 broad.mit.edu 37 X 150912208 150912208 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:150912208G>A ENST00000329903.4 + 6 1266 c.1233G>A c.(1231-1233)agG>agA p.R411R NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 411 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) AGGTCATTAGGTGGTTTGACT 0.502000 12 30 0 0 0.000219431 0 0 C1orf106 55765 broad.mit.edu 37 1 200877908 200877908 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:200877908C>T ENST00000367342.4 + 7 1080 c.880C>T c.(880-882)Cgg>Tgg p.R294W C1orf106_ENST00000413687.2_Missense_Mutation_p.R209W NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 294 Pro-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CCCACCTTCTCGGCCTCTCCC 0.612000 14 223 0 0 0.000566183 0 0 MARCH1 55016 broad.mit.edu 37 4 164506904 164506904 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:164506904C>T ENST00000503008.1 - 6 1396 c.420G>A c.(418-420)cgG>cgA p.R140R MARCH1_ENST00000274056.7_Silent_p.R140R|MARCH1_ENST00000514618.1_Silent_p.R396R|MARCH1_ENST00000339875.5_Silent_p.R123R NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 140 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding p.R123R(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ACTGTACCTTCCGGAGGGGTT 0.453000 7 38 0 0 0.000157383 0 0 ZNF331 55422 broad.mit.edu 37 19 54080376 54080376 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:54080376G>A ENST00000253144.9 + 7 1895 c.562G>A c.(562-564)Gaa>Aaa p.E188K ZNF331_ENST00000512387.1_Missense_Mutation_p.E188K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E188K|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511593.2_Missense_Mutation_p.E188K|ZNF331_ENST00000511154.1_Missense_Mutation_p.E188K|ZNF331_ENST00000449416.1_Missense_Mutation_p.E188K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E188K NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GAAGCCCTACGAATGTAAAGA 0.423000 T ? follicular thyroid adenoma 12 81 0 0 0.00010058 0 0 CYP2B6 1555 broad.mit.edu 37 19 41512885 41512885 + Missense_Mutation SNP G G A rs141530852 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:41512885G>A ENST00000324071.4 + 4 567 c.560G>A c.(559-561)cGa>cAa p.R187Q CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000598834.1_3'UTR NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 187 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) TTTGGAAAACGATTCCACTAC 0.507000 11 47 0 0 0.000151284 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745591 140745591 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:140745591C>T ENST00000518069.1 + 1 1694 c.1694C>T c.(1693-1695)cCc>cTc p.P565L PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCTGTACCCCGCCCTCCCC 0.612000 18 100 0 0 0.000229342 0 0 RNF181 51255 broad.mit.edu 37 2 85824241 85824241 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:85824241C>T ENST00000441634.1 + 4 381 c.342C>T c.(340-342)ccC>ccT p.P114P RNF181_ENST00000306368.4_Silent_p.P114P Q9P0P0 RN181_HUMAN ring finger protein 181 114 ligase activity|zinc ion binding lung(1)|stomach(1) 2 ATTCCTGTCCCTTGTGCCGCT 0.512000 40 150 0 0 0.000680045 0 0 PCDHB6 56130 broad.mit.edu 37 5 140532155 140532155 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:140532155C>T ENST00000231136.1 + 1 2317 c.2317C>T c.(2317-2319)Cct>Tct p.P773S PCDHB6_ENST00000543635.1_Missense_Mutation_p.P637S NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 773 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCAACTTCCCTCCTCAGGG 0.483000 21 72 0 0 0.000229342 0 0 TMEM19 55266 broad.mit.edu 37 12 72091168 72091168 + Missense_Mutation SNP C C T rs139343453 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:72091168C>T ENST00000266673.5 + 4 1085 c.491C>T c.(490-492)tCc>tTc p.S164F TMEM19_ENST00000549735.1_Missense_Mutation_p.S164F|RP11-293I14.2_ENST00000548802.1_3'UTR NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 164 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) GTCGATTTTTCCAAGCAGTAC 0.522000 22 52 0 0 0.000295444 0 0 SYNE1 23345 broad.mit.edu 37 6 152651175 152651175 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:152651175C>T ENST00000367255.5 - 78 15246 c.14645G>A c.(14644-14646)cGa>cAa p.R4882Q SYNE1_ENST00000448038.1_Missense_Mutation_p.R4811Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R4629Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R4882Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R4811Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4882 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) CTGCACCATTCGGCTCTCACA 0.532000 HNSCC(10;0.0054) 5 27 0 0 0.000602214 0 0 IL1RL1 9173 broad.mit.edu 37 2 102965638 102965638 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:102965638C>T ENST00000233954.1 + 10 1488 c.1217C>T c.(1216-1218)cCt>cTt p.P406L NM_016232.4 NP_057316.3 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 406 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 CAGATTCTGCCTGATGTTCTT 0.418000 10 32 0 0 6.40141e-05 0 0 COL3A1 1281 broad.mit.edu 37 2 189875617 189875617 + Splice_Site SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:189875617G>A ENST00000304636.3 + 50 4424 c.e50+1 COL3A1_ENST00000317840.5_Splice_Site NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TGGTTGCACGGTAGGAAACAT 0.348000 9 41 0 0 6.40141e-05 0 0 OR2C3 81472 broad.mit.edu 37 1 247695301 247695301 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:247695301C>T ENST00000366487.3 - 2 874 c.513G>A c.(511-513)ggG>ggA p.G171G GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TGCAATTGTTCCCACACAGCG 0.562000 9 26 0 0 0.000442599 0 0 CP 1356 broad.mit.edu 37 3 148939460 148939460 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:148939460C>T ENST00000264613.6 - 1 382 c.120G>A c.(118-120)ggG>ggA p.G40G NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 40 F5/8 type A 1.|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GTTTCTTTTCCCCATGGTCAG 0.323000 5 37 0 0 0.000274275 0 0 BEST3 144453 broad.mit.edu 37 12 70049108 70049108 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:70049108G>A ENST00000330891.5 - 10 1812 c.1586C>T c.(1585-1587)tCt>tTt p.S529F BEST3_ENST00000553096.1_Missense_Mutation_p.S423F|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.S316F NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 529 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TGTAAACTCAGAGCTCAAGAT 0.572000 13 48 0 0 0.00010058 0 0 DPYSL4 10570 broad.mit.edu 37 10 134016294 134016294 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:134016294G>A ENST00000338492.4 + 12 1590 c.1426G>A c.(1426-1428)Gac>Aac p.D476N DPYSL4_ENST00000368627.1_Intron|DPYSL4_ENST00000368629.1_Intron NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 476 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) AACATTCCCGGACTTTGTCTA 0.622000 11 54 0 0 6.40141e-05 0 0 SDHAP1 255812 broad.mit.edu 37 3 195692311 195692311 + RNA SNP T T C rs62282793 by1000genomes TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:195692311T>C ENST00000427841.1 - 0 2191 NR_003264.2 TTCCCAGTGCTGACGTCCACA 0.607000 4 17 0 0 3.59834e-05 0 0 SLAMF7 57823 broad.mit.edu 37 1 160719702 160719702 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:160719702G>A ENST00000368043.3 + 3 505 c.468G>A c.(466-468)ggG>ggA p.G156G SLAMF7_ENST00000458602.2_Silent_p.G49G|SLAMF7_ENST00000458104.2_Silent_p.G49G|SLAMF7_ENST00000368042.3_Silent_p.G49G|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000359331.4_Silent_p.G156G NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 156 Ig-like C2-type. cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGGAACATGGGGAAGAGGATG 0.522000 8 64 0 0 0.000274275 0 0 TNXB 7148 broad.mit.edu 37 6 32015584 32015584 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:32015584C>T ENST00000375244.3 - 30 10452 c.10251G>A c.(10249-10251)agG>agA p.R3417R TNXB_ENST00000375247.2_Silent_p.R3415R P22105 TENX_HUMAN tenascin XB 3462 Fibronectin type-III 26. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACCTGTATTTCCTACTGGGCT 0.602000 16 100 0 0 0.000308642 0 0 SLC26A9 115019 broad.mit.edu 37 1 205884064 205884064 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:205884064G>A ENST00000367134.2 - 22 2733 c.2620C>T c.(2620-2622)Cca>Tca p.P874S SLC26A9_ENST00000367135.3_3'UTR|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P874S NM_134325.2 NP_599152.2 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 0 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GAGCCGTGTGGGCTCTGGGAC 0.522000 17 136 0 0 0.000132079 0 0 FCHSD1 89848 broad.mit.edu 37 5 141025397 141025397 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:141025397C>T ENST00000435817.2 - 13 1302 c.1252G>A c.(1252-1254)Gtg>Atg p.V418M FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522126.1_Missense_Mutation_p.V342M|FCHSD1_ENST00000522783.1_Intron NM_033449.2 NP_258260.1 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 418 FCHSD1/BRAF(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTGCTCCACCTCATCCTGG 0.657000 4 8 0 0 0.000602214 0 0 TRAF3 7187 broad.mit.edu 37 14 103369643 103369643 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:103369643C>T ENST00000560371.1 + 10 1229 c.1012C>T c.(1012-1014)Cgg>Tgg p.R338W TRAF3_ENST00000392745.2_Missense_Mutation_p.R338W|TRAF3_ENST00000347662.4_Missense_Mutation_p.R313W|TRAF3_ENST00000351691.5_Missense_Mutation_p.R313W|TRAF3_ENST00000539721.1_Missense_Mutation_p.R255W NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 338 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) CAAGGAGATCCGGCCCTTCCG 0.542000 14 56 0 0 0.000422831 0 0 DEPDC4 120863 broad.mit.edu 37 12 100656056 100656056 + Missense_Mutation SNP C C T rs145497556 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:100656056C>T ENST00000416321.1 - 3 688 c.686G>A c.(685-687)cGg>cAg p.R229Q NM_152317.2 NP_689530.1 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 229 intracellular signal transduction NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 TTTTGAAAGCCGGAGAAAAGG 0.343000 10 50 0 0 0.000673444 0 0 ENPP4 22875 broad.mit.edu 37 6 46111310 46111310 + Missense_Mutation SNP T T A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:46111310T>A ENST00000321037.4 + 4 1525 c.1295T>A c.(1294-1296)cTt>cAt p.L432H NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 432 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 CAGAATAGACTTTCTGTACCT 0.413000 5 28 0 0 0.000602214 0 0 GBA3 57733 broad.mit.edu 37 4 22749269 22749269 + RNA SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:22749269C>T ENST00000508166.1 + 0 739 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity p.R213*(1) breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TTCCTTATTTCGAAAAAAGCA 0.473000 6 71 0 0 3.59834e-05 0 0 ZNF554 115196 broad.mit.edu 37 19 2832352 2832352 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:2832352C>T ENST00000317243.5 + 4 503 c.305C>T c.(304-306)tCc>tTc p.S102F ZNF554_ENST00000591265.1_Missense_Mutation_p.S102F NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 102 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCCACTTTCCCCAGCACAA 0.438000 23 117 0 0 0.00047179 0 0 VIL1 7429 broad.mit.edu 37 2 219295545 219295545 + Nonsense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:219295545G>A ENST00000248444.5 + 10 1134 c.1046G>A c.(1045-1047)tGg>tAg p.W349* VIL1_ENST00000392114.2_Nonsense_Mutation_p.W38*|VIL1_ENST00000440053.1_Nonsense_Mutation_p.W349* NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 349 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTCCAGAAGTGGACAGCGTCC 0.612000 5 39 0 0 0.000602214 0 0 LMX1A 4009 broad.mit.edu 37 1 165183036 165183036 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:165183036C>T ENST00000342310.3 - 5 893 c.511G>A c.(511-513)Gaa>Aaa p.E171K LMX1A_ENST00000294816.2_Missense_Mutation_p.E171K|LMX1A_ENST00000367893.4_Missense_Mutation_p.E171K NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 171 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) AGACTTTCTTCATCATCACTT 0.498000 7 125 0 0 0.000157383 0 0 MYLK4 340156 broad.mit.edu 37 6 2671570 2671570 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:2671570G>A ENST00000274643.7 - 12 1474 c.1132C>T c.(1132-1134)Cgt>Tgt p.R378C MYLK4_ENST00000268446.5_Missense_Mutation_p.R378C NM_001012418.3 NP_001012418.2 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 378 ATP binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Ovarian(93;0.0412) all_hematologic(90;0.0897) TCAGAGCCACGATTCTTCTTC 0.473000 12 42 0 0 0.000422831 0 0 PDIA4 9601 broad.mit.edu 37 7 148701009 148701009 + Silent SNP G G A rs142824594 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:148701009G>A ENST00000286091.4 - 10 2047 c.1815C>T c.(1813-1815)ttC>ttT p.F605F NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 605 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CACTGGGGGCGAAGTAGATGG 0.527000 12 68 0 0 0.000151284 0 0 KL 9365 broad.mit.edu 37 13 33635042 33635042 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:33635042C>T ENST00000380099.3 + 4 1834 c.1826C>T c.(1825-1827)tCc>tTc p.S609F KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 609 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GGTAACCAGTCCCAGGTGAAC 0.582000 8 76 0 0 0.000274275 0 0 TTN 7273 broad.mit.edu 37 2 179569996 179569996 + Missense_Mutation SNP T T C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:179569996T>C ENST00000589042.1 - 103 29733 c.29509A>G c.(29509-29511)Aaa>Gaa p.K9837E TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K8593E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K9520E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9520 Ig-like 79. 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) CGGGCATATTTTTCATATTCT 0.373000 9 26 0 0 0.000274275 0 0 SYT13 57586 broad.mit.edu 37 11 45267949 45267949 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:45267949C>T ENST00000020926.3 - 5 1072 c.961G>A c.(961-963)Gag>Aag p.E321K NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 321 C2 2. transport vesicle breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 CCCAGGAGCTCCTTGGACTGG 0.592000 16 22 0 0 0.000566183 0 0 XIRP2 129446 broad.mit.edu 37 2 168104833 168104833 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:168104833C>T ENST00000409195.1 + 9 7020 c.6931C>T c.(6931-6933)Cct>Tct p.P2311S XIRP2_ENST00000295237.9_Missense_Mutation_p.P2311S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2089S NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2136 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATTTCCTCTTCCTCCTCCACC 0.443000 6 17 0 0 8.12818e-05 0 0 OR2T12 127064 broad.mit.edu 37 1 248458452 248458452 + Silent SNP G G T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:248458452G>T ENST00000317996.1 - 1 428 c.429C>A c.(427-429)acC>acA p.T143T NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T143T(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AGGACGACATGGTCATCCTCA 0.587000 13 42 1.5739e-10 2.55152e-09 0.000422831 1 0 CD2 914 broad.mit.edu 37 1 117307203 117307203 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:117307203G>A ENST00000369478.3 + 4 819 c.711G>A c.(709-711)agG>agA p.R237R NM_001767.3 NP_001758.2 P06729 CD2_HUMAN CD2 molecule 237 blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1) 18 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) TCACCAAAAGGAAAAAACAGA 0.493000 25 58 0 0 0.00047179 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399797 89399797 + RNA SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:89399797C>T ENST00000479981.1 - 0 57 AGCAGGAGCCCCAGGAGCTGA 0.522000 4 17 0 0 8.12818e-05 0 0 HERC1 8925 broad.mit.edu 37 15 63986245 63986245 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:63986245G>A ENST00000443617.2 - 30 5679 c.5592C>T c.(5590-5592)ttC>ttT p.F1864F RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1864 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ccccttctccGAAAGAGGCCA 0.403000 4 13 0 0 0.00024832 0 0 CD96 10225 broad.mit.edu 37 3 111325559 111325559 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:111325559C>T ENST00000352690.4 + 8 1340 c.1100C>T c.(1099-1101)tCc>tTc p.S367F CD96_ENST00000283285.5_Missense_Mutation_p.S383F|CD96_ENST00000438817.2_Missense_Mutation_p.S367F NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 383 Ig-like C2-type. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 TCTGAAATTTCCTCAACAGAC 0.358000 Opitz Trigonocephaly syndrome 6 24 0 0 3.59834e-05 0 0 BSND 7809 broad.mit.edu 37 1 55464879 55464879 + Missense_Mutation SNP T T G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:55464879T>G ENST00000371265.4 + 1 274 c.20T>G c.(19-21)tTc>tGc p.F7C NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 7 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 GAGAAGACCTTCCGGATCGGC 0.612000 38 92 0 0 0.000781405 0 0 DNAH11 8701 broad.mit.edu 37 7 21628922 21628922 + Nonsense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:21628922G>A ENST00000328843.6 + 12 2101 c.2070G>A c.(2068-2070)tgG>tgA p.W690* DNAH11_ENST00000409508.3_Nonsense_Mutation_p.W690* Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 690 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ATAATGAATGGAAAAGTAATG 0.343000 Kartagener syndrome 8 56 0 0 0.000157383 0 0 FGD5 152273 broad.mit.edu 37 3 14964555 14964555 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:14964555C>T ENST00000285046.5 + 16 3920 c.3810C>T c.(3808-3810)atC>atT p.I1270I FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Silent_p.I1029I NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1270 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GCCTGCAGATCGTGTGCCGGA 0.607000 15 55 0 0 0.000422831 0 0 DNAH11 8701 broad.mit.edu 37 7 21631164 21631164 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:21631164G>A ENST00000328843.6 + 14 2667 c.2636G>A c.(2635-2637)gGa>gAa p.G879E DNAH11_ENST00000409508.3_Missense_Mutation_p.G879E Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 879 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTAATCCAAGGAGATGGCTGC 0.423000 Kartagener syndrome 19 57 0 0 0.000175454 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675119 40675119 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:40675119C>T ENST00000416151.2 + 1 198 c.83C>T c.(82-84)cCg>cTg p.P28L KNSTRN_ENST00000249776.8_Missense_Mutation_p.P28L|KNSTRN_ENST00000448395.2_Missense_Mutation_p.P28L NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein CACCCACTTCCGCCTAGCTAC 0.567000 12 88 0 0 0.00010058 0 0 KIAA0430 9665 broad.mit.edu 37 16 15702291 15702291 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:15702291G>A ENST00000396368.3 - 21 4245 c.4039C>T c.(4039-4041)Ctt>Ttt p.L1347F KIAA0430_ENST00000551742.1_Missense_Mutation_p.L1347F|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L1344F|KIAA0430_ENST00000540441.2_Missense_Mutation_p.L1182F|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L949F|KIAA0430_ENST00000602337.1_Missense_Mutation_p.L1344F NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 1346 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TGGGACCGAAGGAGTTTAACA 0.413000 16 74 0 0 0.000958276 0 0 FBN3 84467 broad.mit.edu 37 19 8153023 8153023 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:8153023C>T ENST00000600128.1 - 52 6831 c.6417G>A c.(6415-6417)ggG>ggA p.G2139G FBN3_ENST00000601739.1_Silent_p.G2139G|FBN3_ENST00000270509.2_Silent_p.G2139G Q75N90 FBN3_HUMAN fibrillin 3 2139 EGF-like 34; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGGTGCATGTCCCTTGCCCAC 0.607000 13 66 0 0 0.000958276 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281609 71281609 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:71281609G>A ENST00000335793.3 - 2 1425 c.1031C>T c.(1030-1032)tCc>tTc p.S344F CDC42EP4_ENST00000439510.2_Missense_Mutation_p.S274F|CDC42EP4_ENST00000581014.1_Silent_p.L76L Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 344 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) ATCCATGAAGGAGAACTCCTT 0.647000 15 120 0 0 0.000566183 0 0 BDP1 55814 broad.mit.edu 37 5 70806623 70806623 + Missense_Mutation SNP C C T rs5868598 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:70806623C>T ENST00000358731.4 + 17 3967 c.3704C>T c.(3703-3705)tCc>tTc p.S1235F BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1235 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GAAGAAATTTCCCAAAGGGAA 0.398000 13 47 0 0 0.00010058 0 0 POU6F1 5463 broad.mit.edu 37 12 51586221 51586221 + Nonsense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:51586221G>A ENST00000389243.4 - 9 1222 c.283C>T c.(283-285)Cag>Tag p.Q95* POU6F1_ENST00000550824.1_Nonsense_Mutation_p.Q95*|POU6F1_ENST00000333640.10_Nonsense_Mutation_p.Q95* Q14863 PO6F1_HUMAN POU class 6 homeobox 1 95 Gln/Pro-rich. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 ACAGCAGGCTGGGGCACGGTT 0.602000 15 108 0 0 0.000566183 0 0 SP100 6672 broad.mit.edu 37 2 231331029 231331029 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:231331029C>T ENST00000264052.5 + 12 1510 c.1155C>T c.(1153-1155)ttC>ttT p.F385F SP100_ENST00000409341.1_Silent_p.F385F|SP100_ENST00000409897.1_Silent_p.F350F|SP100_ENST00000409824.1_Silent_p.F360F|SP100_ENST00000340126.4_Silent_p.F385F|SP100_ENST00000341950.4_Silent_p.F385F|SP100_ENST00000427101.2_Silent_p.F360F|SP100_ENST00000409112.1_Silent_p.F385F NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 385 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CCATGGATTTCAGAAAATTAT 0.338000 14 38 0 0 0.000308642 0 0 INSM1 3642 broad.mit.edu 37 20 20350318 20350318 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:20350318C>T ENST00000310227.1 + 1 1554 c.1407C>T c.(1405-1407)ttC>ttT p.F469F NM_002196.2 NP_002187.1 Q01101 INSM1_HUMAN insulinoma-associated 1 469 endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding liver(1)|lung(3)|ovary(1)|prostate(1) 6 READ - Rectum adenocarcinoma(2;0.0649) CCCAGGTGTTCCCCTGCAAGT 0.662000 6 31 0 0 8.12818e-05 0 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T T C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:35930362T>C ENST00000494488.2 + 10 915 c.915T>C c.(913-915)taT>taC p.Y305Y SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y Q16181 SEPT7_HUMAN septin 7 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 4 15 0 0 0.00024832 0 0 GFAP 2670 broad.mit.edu 37 17 42992741 42992741 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:42992741G>A ENST00000253408.5 - 1 179 c.114C>T c.(112-114)tcC>tcT p.S38S GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.S38S|GFAP_ENST00000435360.2_Silent_p.S38S NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 38 Head. cytoplasm|intermediate filament structural constituent of cytoskeleton p.S38F(1) endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) TTCGAGCCAGGGAGAGGCGGG 0.692000 17 19 0 0 0.000375601 0 0 CDH22 64405 broad.mit.edu 37 20 44869812 44869812 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:44869812C>T ENST00000372262.3 - 2 740 c.340G>A c.(340-342)Gag>Aag p.E114K CDH22_ENST00000537909.1_Missense_Mutation_p.E114K NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 114 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CCTGTCAGCTCGTCGATCAGG 0.622000 5 40 0 0 0.000602214 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922825 17922825 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:17922825G>A ENST00000318683.6 + 3 1160 c.1013G>A c.(1012-1014)cGa>cAa p.R338Q B3GNT3_ENST00000595387.1_Missense_Mutation_p.R338Q NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 338 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 TGCTTCTACCGAGACCTGCTG 0.612000 29 116 0 0 0.000227799 0 0 OR4D6 219983 broad.mit.edu 37 11 59224633 59224633 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:59224633C>T ENST00000300127.2 + 1 223 c.200C>T c.(199-201)tCa>tTa p.S67L NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 CGGAACAAATCAGTCCTGGAC 0.468000 19 30 0 0 0.00074312 0 0 KCNB2 9312 broad.mit.edu 37 8 73480322 73480322 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:73480322C>T ENST00000523207.1 + 2 941 c.353C>T c.(352-354)tCg>tTg p.S118L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 118 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.S118L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGTGCACTTTCGTTTGGCCAA 0.423000 17 21 0 0 0.00074312 0 0 ESPNP 284729 broad.mit.edu 37 1 17029294 17029294 + RNA SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:17029294G>A ENST00000492551.1 - 0 1071 NR_026567.1 TTGGGAGATGGGTAGCTAggt 0.652000 6 47 0 0 8.12818e-05 0 0 ACSS3 79611 broad.mit.edu 37 12 81472039 81472039 + Missense_Mutation SNP G G T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:81472039G>T ENST00000548058.1 + 1 1050 c.140G>T c.(139-141)gGg>gTg p.G47V ACSS3_ENST00000261206.3_Missense_Mutation_p.G47V Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 47 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GGCGGTCTCGGGGGCCGGGGA 0.736000 5 3 3.59834e-05 0.000579191 3.59834e-05 1 0 PRAMEF12 390999 broad.mit.edu 37 1 12835175 12835175 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:12835175G>A ENST00000357726.4 + 1 192 c.165G>A c.(163-165)atG>atA p.M55I NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 55 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGACAACTATGGTGCAGGCCT 0.582000 11 78 0 0 6.40141e-05 0 0 DCAF11 80344 broad.mit.edu 37 14 24588419 24588419 + Missense_Mutation SNP G G C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:24588419G>C ENST00000446197.3 + 9 1572 c.845G>C c.(844-846)gGa>gCa p.G282A DCAF11_ENST00000396936.1_Missense_Mutation_p.G182A|DCAF11_ENST00000396941.4_Missense_Mutation_p.G256A|DCAF11_ENST00000559115.1_Missense_Mutation_p.G282A NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 282 CUL4 RING ubiquitin ligase complex protein binding GAAGTACTAGGAGGGTAAGTG 0.507000 24 126 0 0 0.000586117 0 0 NUDT10 170685 broad.mit.edu 37 X 51076066 51076066 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:51076066C>T ENST00000376006.3 + 2 469 c.249C>T c.(247-249)ttC>ttT p.F83F NUDT10_ENST00000356450.2_Silent_p.F83F NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 83 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGGGCGTCTTCGAACAGAACC 0.617000 10 25 0 0 0.000673444 0 0 PMEPA1 56937 broad.mit.edu 37 20 56227493 56227493 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:56227493G>A ENST00000341744.3 - 4 799 c.480C>T c.(478-480)ccC>ccT p.P160P PMEPA1_ENST00000395816.3_Silent_p.P110P|PMEPA1_ENST00000395814.1_Silent_p.P110P|PMEPA1_ENST00000347215.4_Silent_p.P125P|PMEPA1_ENST00000265626.4_Silent_p.P110P NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 160 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GGCCCTGGTAGGGTGGGGGCT 0.662000 5 44 0 0 0.000157383 0 0 SHH 6469 broad.mit.edu 37 7 155599242 155599242 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:155599242C>T ENST00000297261.2 - 2 460 c.310G>A c.(310-312)Gac>Aac p.D104N NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog 104 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCAACTTGTCCTTACACCTC 0.632000 11 52 0 0 0.000673444 0 0 GNPDA2 132789 broad.mit.edu 37 4 44724174 44724174 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:44724174G>A ENST00000509756.1 - 2 157 c.51C>T c.(49-51)gcC>gcT p.A17A GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000295448.3_Silent_p.A17A|GNPDA2_ENST00000507917.1_Silent_p.A17A|GNPDA2_ENST00000507534.1_Intron Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 17 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity endometrium(2)|large_intestine(1)|lung(7)|ovary(1) 11 AGATGTATTTGGCTGCCCATT 0.388000 10 19 0 0 0.000673444 0 0 ZNF132 7691 broad.mit.edu 37 19 58946494 58946494 + Missense_Mutation SNP G G T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:58946494G>T ENST00000254166.3 - 3 717 c.317C>A c.(316-318)gCa>gAa p.A106E NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 106 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GGAAGGATCTGCATTAGGGAT 0.488000 22 142 2.48779e-11 4.04032e-10 0.000878237 1 0 DUSP22 56940 broad.mit.edu 37 6 348248 348248 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:348248G>A ENST00000604971.1 + 3 1213 c.100G>A c.(100-102)Gag>Aag p.E34K DUSP22_ENST00000605035.1_Missense_Mutation_p.E34K|DUSP22_ENST00000605315.1_Missense_Mutation_p.E34K|DUSP22_ENST00000603453.1_Missense_Mutation_p.E34K|DUSP22_ENST00000605863.1_Missense_Mutation_p.E34K|DUSP22_ENST00000419235.2_Missense_Mutation_p.E137K|DUSP22_ENST00000344450.5_Missense_Mutation_p.E137K Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 137 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) ACAGCTCCAGGAGTTTGAGAA 0.577000 6 109 0 0 3.59834e-05 0 0 OR5V1 81696 broad.mit.edu 37 6 29323094 29323094 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:29323094C>T ENST00000377154.1 - 4 1178 c.879G>A c.(877-879)agG>agA p.R293R OR5V1_ENST00000543825.1_Silent_p.R293R Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R293R(1) breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGTCCTTATTCCTCAATGTGT 0.403000 8 26 0 0 0.000442599 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161022462 161022462 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:161022462G>A ENST00000368013.3 - 7 1110 c.790C>T c.(790-792)Cca>Tca p.P264S ARHGAP30_ENST00000368015.1_Missense_Mutation_p.P87S|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P264S NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 264 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) CGCATCTGTGGGGGTCCATCG 0.602000 19 49 0 0 0.00074312 0 0 DNAH17 8632 broad.mit.edu 37 17 76471509 76471509 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:76471509G>A ENST00000389840.5 - 54 8444 c.8320C>T c.(8320-8322)Cgc>Tgc p.R2774C DNAH17_ENST00000585328.1_Missense_Mutation_p.R2783C|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCCAGGATGCGATTAATCCTG 0.602000 57 49 0 0 0.000781405 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136323178 136323178 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:136323178G>A ENST00000371929.3 + 28 4483 c.4039G>A c.(4039-4041)Ggc>Agc p.G1347S ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.G1260S|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.G1291S|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.G143S NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1347 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CACCAACATGGGCGCTGGGAC 0.617000 7 33 0 0 8.12818e-05 0 0 RPL32P3 132241 broad.mit.edu 37 3 129115100 129115100 + RNA SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:129115100G>A ENST00000514355.1 - 0 513 lung(1) 1 TTGACATTGTGGACCAGGAAC 0.458000 5 35 0 0 0.000602214 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049157 42049157 + Missense_Mutation SNP G G T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:42049157G>T ENST00000372584.1 - 3 2326 c.1312C>A c.(1312-1314)Cag>Aag p.Q438K HIVEP3_ENST00000429157.2_Missense_Mutation_p.Q438K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.Q438K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.Q438K NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 438 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AGGAGGGGCTGGGTGGAGGTG 0.607000 11 59 4.36969e-10 7.07124e-09 0.000151284 1 0 IGF2BP1 10642 broad.mit.edu 37 17 47123702 47123702 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:47123702C>T ENST00000290341.3 + 14 1942 c.1608C>T c.(1606-1608)atC>atT p.I536I IGF2BP1_ENST00000431824.2_Silent_p.I397I NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 536 KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ACCAGGTCATCGTGAAAATCA 0.552000 6 46 0 0 8.12818e-05 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086700 39086700 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:39086700G>A ENST00000400482.3 - 3 1349 c.760C>T c.(760-762)Ccg>Tcg p.P254S KCNJ6_ENST00000288309.6_Missense_Mutation_p.P254S NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 254 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) TGGTTCAACGGGATGAACTCC 0.502000 16 76 0 0 0.000308642 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74206073 74206073 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:74206073G>A ENST00000286523.5 - 2 1421 c.639C>T c.(637-639)ccC>ccT p.P213P ELMSAN1_ENST00000394071.2_Silent_p.P213P NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 AGGGTTGCAGGGGCAGTGACT 0.642000 11 88 0 0 6.40141e-05 0 0 WASF3 10810 broad.mit.edu 37 13 27241676 27241676 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:27241676G>A ENST00000361042.4 + 5 516 c.291G>A c.(289-291)atG>atA p.M97I WASF3_ENST00000335327.5_Missense_Mutation_p.M97I|WASF3_ENST00000496788.1_3'UTR Q9UPY6 WASF3_HUMAN WAS protein family, member 3 97 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) ATATCAACATGAAAAAAGCTT 0.348000 7 53 0 0 0.000442599 0 0 ZNF454 285676 broad.mit.edu 37 5 178373936 178373936 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:178373936G>A ENST00000320129.3 + 4 502 c.199G>A c.(199-201)Gaa>Aaa p.E67K ZNF454_ENST00000519564.1_Missense_Mutation_p.E67K NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TTCCCAGCTAGAAAAAAGGGA 0.483000 23 124 0 0 0.000184323 0 0 KANSL1 284058 broad.mit.edu 37 17 44108899 44108899 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:44108899G>A ENST00000262419.6 - 15 3731 c.3261C>T c.(3259-3261)ccC>ccT p.P1087P KANSL1_ENST00000432791.1_Silent_p.P1087P|KANSL1_ENST00000393476.3_Silent_p.P381P|KANSL1_ENST00000575318.1_Silent_p.P1023P|KANSL1_ENST00000574590.1_Silent_p.P1087P|KANSL1_ENST00000572904.1_Silent_p.P1087P NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 1087 MLL1 complex protein binding GACTCTTGAGGGGGACAATGG 0.617000 5 50 0 0 8.12818e-05 0 0 ATN1 1822 broad.mit.edu 37 12 7048061 7048061 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:7048061C>T ENST00000356654.4 + 7 3172 c.2935C>T c.(2935-2937)Ctg>Ttg p.L979L ATN1_ENST00000396684.2_Silent_p.L979L NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 979 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GGGCCTGGCTCTGCAGCCTGG 0.672000 12 74 0 0 0.000219431 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997307 82997307 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:82997307G>A ENST00000307792.3 - 17 2390 c.1923C>T c.(1921-1923)ttC>ttT p.F641F SEMA3E_ENST00000427262.1_Silent_p.F581F NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 641 Ig-like C2-type. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) GTAACCTTAGGAAGAGTAAAC 0.418000 6 40 0 0 0.000274275 0 0 USP18 11274 broad.mit.edu 37 22 18642943 18642943 + Silent SNP G G T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr22:18642943G>T ENST00000215794.7 + 3 592 c.162G>T c.(160-162)ctG>ctT p.L54L NM_017414.3 NP_059110.2 Q9UMW8 UBP18_HUMAN ubiquitin specific peptidase 18 54 regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process cytosol|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1) 10 TTATAGGCCTGGTTGGTTTAC 0.463000 7 196 0.000442599 0.00709885 0.000442599 1 0 KRT36 8689 broad.mit.edu 37 17 39646023 39646023 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:39646023G>A ENST00000328119.6 - 1 93 c.94C>T c.(94-96)Cgt>Tgt p.R32C KRT36_ENST00000393986.2_Intron NM_003771.4 NP_003762.1 O76013 KRT36_HUMAN keratin 36 32 Head. intermediate filament protein binding|structural constituent of epidermis p.R32C(1) breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) CCCACAGAACGGATGGAGGAC 0.637000 8 46 0 0 0.000157383 0 0 ANK2 287 broad.mit.edu 37 4 114294472 114294472 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:114294472C>T ENST00000357077.4 + 45 11779 c.11726C>T c.(11725-11727)tCc>tTc p.S3909F ANK2_ENST00000510275.2_Missense_Mutation_p.S507F|ANK2_ENST00000264366.6_Missense_Mutation_p.S3876F|ANK2_ENST00000509550.1_Missense_Mutation_p.S1000F|ANK2_ENST00000394537.3_Missense_Mutation_p.S1824F|ANK2_ENST00000506722.1_Missense_Mutation_p.S1815F NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3876 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CGGTATGTATCCTCTGAAGGC 0.383000 9 19 0 0 6.40141e-05 0 0 SHH 6469 broad.mit.edu 37 7 155599243 155599243 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:155599243C>T ENST00000297261.2 - 2 459 c.309G>A c.(307-309)aaG>aaA p.K103K NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog 103 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCAACTTGTCCTTACACCTCT 0.637000 12 48 0 0 6.40141e-05 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415711 105415711 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:105415711G>A ENST00000333244.5 - 7 6196 c.6077C>T c.(6076-6078)tCc>tTc p.S2026F AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2026 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCCTGCATGGAGGGGAGACT 0.642000 38 164 0 0 0.000814825 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100821446 100821446 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:100821446G>A ENST00000268070.4 - 4 882 c.777C>T c.(775-777)acC>acT p.T259T NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 259 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) TGTTCATGACGGTCAGGATGA 0.627000 10 104 0 0 6.40141e-05 0 0 APOB 338 broad.mit.edu 37 2 21247901 21247901 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:21247901C>T ENST00000233242.1 - 16 2467 c.2340G>A c.(2338-2340)ttG>ttA p.L780L APOB_ENST00000399256.4_Silent_p.L780L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 780 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCTCCTCTCCCAAGATGCGGA 0.512000 32 173 0 0 0.000491102 0 0 RERE 473 broad.mit.edu 37 1 8418267 8418267 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:8418267G>A ENST00000337907.3 - 21 4962 c.4328C>T c.(4327-4329)cCc>cTc p.P1443L RERE_ENST00000377464.1_Missense_Mutation_p.P1175L|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.P889L|RERE_ENST00000400908.2_Missense_Mutation_p.P1443L NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1443 His-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) Ttggtggagggggtcctgctg 0.632000 4 25 0 0 0.00024832 0 0 SMARCC1 6599 broad.mit.edu 37 3 47730890 47730890 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:47730890G>A ENST00000254480.5 - 13 1369 c.1250C>T c.(1249-1251)aCa>aTa p.T417I SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 417 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TCCTCCTGCTGTGACTGTTTC 0.398000 11 31 0 0 0.000151284 0 0 NFKBIE 4794 broad.mit.edu 37 6 44227798 44227798 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:44227798G>A ENST00000275015.5 - 5 1418 c.1419C>T c.(1417-1419)ccC>ccT p.P473P NM_004556.2 NP_004547.2 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon 473 cytoplasmic sequestering of transcription factor protein binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCAGGTCCTGGGGCGTCTCAT 0.597000 11 37 0 0 0.00010058 0 0 MUC16 94025 broad.mit.edu 37 19 9062451 9062451 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:9062451C>T ENST00000397910.4 - 3 25198 c.24995G>A c.(24994-24996)aGa>aAa p.R8332K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8334 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTGGTCAGTCTCTCATGGGA 0.498000 14 49 0 0 0.000958276 0 0 TMC7 79905 broad.mit.edu 37 16 19051753 19051753 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:19051753G>A ENST00000421369.3 + 9 1550 c.992G>A c.(991-993)cGt>cAt p.R331H TMC7_ENST00000569532.1_Missense_Mutation_p.R441H|TMC7_ENST00000304381.5_Missense_Mutation_p.R441H NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 441 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 TTTGAGATCCGTCTGACAATC 0.468000 29 76 0 0 0.000184323 0 0 PRR5L 79899 broad.mit.edu 37 11 36424900 36424900 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:36424900G>A ENST00000378867.3 + 4 572 c.217G>A c.(217-219)Gag>Aag p.E73K PRR5L_ENST00000530639.1_Missense_Mutation_p.E73K|PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000527487.1_Missense_Mutation_p.E73K|PRR5L_ENST00000311599.5_Missense_Mutation_p.E47K NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 73 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 GCAAAGCAACGAGCTCTATGC 0.507000 16 34 0 0 0.00074312 0 0 CILP2 148113 broad.mit.edu 37 19 19654772 19654772 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:19654772G>A ENST00000586018.1 + 8 1538 c.1436G>A c.(1435-1437)gGg>gAg p.G479E CILP2_ENST00000291495.4_Missense_Mutation_p.G473E Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 473 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CCCCCTCGGGGGCTGGTCCGG 0.667000 4 26 0 0 0.000602214 0 0 XPO6 23214 broad.mit.edu 37 16 28117463 28117463 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:28117463G>A ENST00000304658.5 - 20 3185 c.2685C>T c.(2683-2685)atC>atT p.I895I XPO6_ENST00000565698.1_Silent_p.I881I NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 895 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 CCACCTGCAGGATCTTCAGAA 0.592000 21 49 0 0 0.000229342 0 0 MDH1B 130752 broad.mit.edu 37 2 207629981 207629981 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:207629981G>A ENST00000374412.3 - 1 290 c.15C>T c.(13-15)gtC>gtT p.V5V MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000454776.2_Silent_p.V5V|MDH1B_ENST00000392214.2_Silent_p.V5V NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 5 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) CACCCGCGATGACGAATTTGG 0.637000 13 79 0 0 0.000219431 0 0 MIOS 54468 broad.mit.edu 37 7 7628179 7628179 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:7628179C>T ENST00000340080.4 + 8 2290 c.1869C>T c.(1867-1869)ttC>ttT p.F623F MIOS_ENST00000405785.1_Silent_p.F623F NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 623 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTTGTAAATTCCTTAGTGATA 0.328000 18 13 0 0 0.000295444 0 0 RNPEP 6051 broad.mit.edu 37 1 201970810 201970810 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:201970810C>T ENST00000295640.4 + 8 1384 c.1341C>T c.(1339-1341)ttC>ttT p.F447F RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Silent_p.F408F|RP11-465N4.4_ENST00000419190.1_RNA NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 447 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) AATTCAAATTCCGAAGCATCT 0.493000 54 244 0 0 0.000781405 0 0 CLEC4C 170482 broad.mit.edu 37 12 7894077 7894077 + Nonsense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:7894077G>A ENST00000542353.1 - 4 665 c.175C>T c.(175-177)Cga>Tga p.R59* CLEC4C_ENST00000540085.1_Nonsense_Mutation_p.R28*|CLEC4C_ENST00000360345.3_Nonsense_Mutation_p.R59*|CLEC4C_ENST00000354629.5_Nonsense_Mutation_p.R28* NM_130441.2 NP_569708.1 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C 59 innate immune response integral to membrane sugar binding p.R59*(2) autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Kidney(36;0.0915) TGATACTCTCGTAACTTGGAC 0.423000 37 149 0 0 0.000589545 0 0 ITGA1 3672 broad.mit.edu 37 5 52229798 52229798 + Missense_Mutation SNP T T C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:52229798T>C ENST00000282588.6 + 23 3394 c.2936T>C c.(2935-2937)aTt>aCt p.I979T CTD-2175A23.1_ENST00000505701.1_RNA|CTD-2175A23.1_ENST00000503559.1_RNA NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 979 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) ACTGAGGACATTGGAAATGAA 0.274000 6 45 0 0 3.59834e-05 0 0 NEBL 10529 broad.mit.edu 37 10 21074740 21074740 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:21074740C>T ENST00000377122.4 - 28 3377 c.2981G>A c.(2980-2982)gGc>gAc p.G994D NEBL_ENST00000377159.4_Missense_Mutation_p.G216D|NEBL_ENST00000417816.2_Missense_Mutation_p.G250D NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 994 SH3. regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CTGCACTGTGCCGTACATCCA 0.468000 4 13 0 0 0.00024832 0 0 FAM151A 338094 broad.mit.edu 37 1 55075104 55075104 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:55075104G>A ENST00000302250.2 - 8 1755 c.1595C>T c.(1594-1596)tCc>tTc p.S532F ACOT11_ENST00000481208.1_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.S345F|ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000371316.3_Intron NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 532 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 GGCCCGGGGGGAGGATGCCAG 0.647000 21 70 0 0 0.000229342 0 0 CCDC40 55036 broad.mit.edu 37 17 78022387 78022387 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:78022387C>T ENST00000397545.4 + 5 709 c.682C>T c.(682-684)Ccc>Tcc p.P228S CCDC40_ENST00000374876.4_Missense_Mutation_p.P228S|CCDC40_ENST00000269318.5_Missense_Mutation_p.P228S|CCDC40_ENST00000374877.3_Missense_Mutation_p.P228S NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 228 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CCCAGTGATCCCCCCAGGGGT 0.627000 31 24 0 0 0.000409698 0 0 KRT16P2 400578 broad.mit.edu 37 17 16734769 16734769 + RNA SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:16734769C>T ENST00000579062.1 - 0 546 TTCAGGCCTTCCATCTGCATC 0.632000 7 50 0 0 0.000442599 0 0 MAP1A 4130 broad.mit.edu 37 15 43813623 43813623 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:43813623C>T ENST00000382031.1 + 5 697 c.666C>T c.(664-666)tcC>tcT p.S222S MAP1A_ENST00000300231.5_5'UTR|MAP1A_ENST00000399453.1_5'UTR P78559 MAP1A_HUMAN microtubule-associated protein 1A 0 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TATCCAGTTCCCAAGAGACCC 0.567000 9 46 0 0 0.000442599 0 0 SLC6A18 348932 broad.mit.edu 37 5 1238113 1238113 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:1238113C>T ENST00000324642.3 + 5 793 c.670C>T c.(670-672)Ctc>Ttc p.L224F SLC6A18_ENST00000296821.4_Missense_Mutation_p.L224F NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 224 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GACCATCTTTCTCATCAGAGG 0.493000 22 92 0 0 0.000147802 0 0 DNMBP 23268 broad.mit.edu 37 10 101646231 101646231 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:101646231C>T ENST00000342239.3 - 13 3607 c.3516G>A c.(3514-3516)gaG>gaA p.E1172E DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000324109.4_Silent_p.E1148E|DNMBP_ENST00000540316.1_Silent_p.E84E|DNMBP_ENST00000543621.1_Silent_p.E394E Q6XZF7 DNMBP_HUMAN dynamin binding protein 1148 BAR. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) ACTGCAGCTCCTCCAGGGTCT 0.547000 11 78 0 0 6.40141e-05 0 0 BPIFB1 92747 broad.mit.edu 37 20 31878803 31878803 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:31878803G>A ENST00000253354.1 + 5 567 c.406G>A c.(406-408)Gag>Aag p.E136K NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 136 extracellular space lipid binding CATGACGACTGAGGCCCAAGC 0.637000 6 32 0 0 3.59834e-05 0 0 TYMS 7298 broad.mit.edu 37 18 672884 672884 + Missense_Mutation SNP C C G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:672884C>G ENST00000323274.10 + 7 968 c.829C>G c.(829-831)Cca>Gca p.P277A TYMS_ENST00000323224.7_Missense_Mutation_p.P243A|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323250.5_Missense_Mutation_p.P194A|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000383578.3_3'UTR NM_001071.2 NP_001062.1 P04818 TYSY_HUMAN thymidylate synthetase 277 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2) 8 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) CAGACCTTTCCCAAAGCTCAG 0.388000 10 88 0 0 6.40141e-05 0 0 FILIP1 27145 broad.mit.edu 37 6 76024012 76024012 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:76024012C>T ENST00000393004.2 - 5 1757 c.1536G>A c.(1534-1536)agG>agA p.R512R FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.R512R|FILIP1_ENST00000370020.1_Silent_p.R413R Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 512 p.R512R(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCATATTTTTCCTTTCATCAA 0.323000 8 34 0 0 0.000157383 0 0 FGA 2243 broad.mit.edu 37 4 155507125 155507125 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:155507125C>T ENST00000302053.3 - 5 1534 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K FGA_ENST00000403106.3_Missense_Mutation_p.E486K NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 486 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.E486K(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GAACCATCTTCGGAGGTCACC 0.493000 6 26 0 0 3.59834e-05 0 0 PARP4 143 broad.mit.edu 37 13 25029201 25029201 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:25029201G>A ENST00000381989.3 - 22 2817 c.2712C>T c.(2710-2712)tcC>tcT p.S904S NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 904 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 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) CACCCACCAAGGACAGCGCAT 0.507000 33 213 0 0 0.000953801 0 0 CPNE5 57699 broad.mit.edu 37 6 36711495 36711495 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:36711495C>T ENST00000244751.2 - 20 2158 c.1534G>A c.(1534-1536)Ggg>Agg p.G512R CPNE5_ENST00000393189.2_Missense_Mutation_p.G220R|CPNE5_ENST00000459703.1_5'UTR NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 512 VWFA. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GCCAGCTTCCCCCGGGAGGAG 0.657000 16 99 0 0 0.00074312 0 0 HCN2 610 broad.mit.edu 37 19 603747 603747 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:603747C>T ENST00000251287.2 + 2 889 c.836C>T c.(835-837)cCc>cTc p.P279L NM_001194.3 NP_001185.3 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 2 279 cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATCCTGGACCCCGAGAAGATC 0.537000 13 51 0 0 0.000308642 0 0 SKOR1 390598 broad.mit.edu 37 15 68123199 68123199 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:68123199G>A ENST00000380035.2 + 5 2617 c.2559G>A c.(2557-2559)gtG>gtA p.V853V SKOR1_ENST00000554240.1_Silent_p.V814V|SKOR1_ENST00000554054.1_Silent_p.V825V|SKOR1_ENST00000389002.1_Silent_p.V809V|SKOR1_ENST00000341418.5_Silent_p.V756V P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 853 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 CTCATTTGGTGGAGAAAGATA 0.502000 28 219 0 0 0.000227799 0 0 IFNAR2 3455 broad.mit.edu 37 21 34617307 34617307 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr21:34617307C>T ENST00000404220.3 + 4 478 c.149C>T c.(148-150)tCc>tTc p.S50F IFNAR2_ENST00000342136.4_Missense_Mutation_p.S50F|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S50F|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S50F|IFNAR2_ENST00000420068.1_Intron|IFNAR2_ENST00000413881.1_5'UTR|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S50F P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 50 JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) AATTTCCGGTCCATCTTATCA 0.353000 13 91 0 0 0.000219431 0 0 COPA 1314 broad.mit.edu 37 1 160275485 160275485 + Silent SNP G G C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:160275485G>C ENST00000241704.7 - 16 1750 c.1521C>G c.(1519-1521)gcC>gcG p.A507A COPA_ENST00000368069.3_Silent_p.A507A NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 507 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CACCGTGTTTGGCTAGTAGTG 0.458000 20 106 0 0 0.000375601 0 0 MYH11 4629 broad.mit.edu 37 16 15815452 15815452 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:15815452C>T ENST00000338282.6 - 32 4511 c.4405G>A c.(4405-4407)Gat>Aat p.D1469N MYH11_ENST00000576790.1_Missense_Mutation_p.D1469N|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000300036.5_Missense_Mutation_p.D1469N|MYH11_ENST00000452625.2_Missense_Mutation_p.D1476N|MYH11_ENST00000396324.3_Missense_Mutation_p.D1476N|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1469 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TCCCTCTCATCCGCGTATTTG 0.537000 T CBFB AML 8 56 0 0 0.000442599 0 0 NACA 4666 broad.mit.edu 37 12 57113173 57113173 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:57113173G>A ENST00000454682.1 - 3 2422 c.2141C>T c.(2140-2142)cCc>cTc p.P714L NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GGTATTCTGGGGGGATGGAGC 0.527000 T BCL6 NHL 8 16 0 0 0.000442599 0 0 SPINK13 153218 broad.mit.edu 37 5 147653946 147653946 + Splice_Site SNP A A C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:147653946A>C ENST00000512953.1 + 4 638 c.108_splice c.e4+1 p.K36_splice SPINK13_ENST00000398450.4_Splice_Site_p.K36_splice|SPINK13_ENST00000511106.1_5'UTR|RP11-373N22.3_ENST00000501695.3_RNA Q1W4C9 ISK13_HUMAN serine peptidase inhibitor, Kazal type 13 (putative) 36 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity breast(2)|lung(3) 5 AGGTGGCCTAAGGTAAATTTA 0.363000 21 111 0 0 0.000720815 0 0 KDM5C 8242 broad.mit.edu 37 X 53245345 53245345 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:53245345G>A ENST00000452825.3 - 4 1023 c.491C>T c.(490-492)cCa>cTa p.P164L KDM5C_ENST00000375379.3_Missense_Mutation_p.P231L|KDM5C_ENST00000375383.3_Missense_Mutation_p.P190L|KDM5C_ENST00000404049.3_Missense_Mutation_p.P230L|KDM5C_ENST00000375401.3_Missense_Mutation_p.P231L NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 231 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 TTTCAGCTCTGGATTCTTCTC 0.502000 """N, F, S""" clear cell renal carcinoma 12 54 0 0 0.000422831 0 0 MRPL38 64978 broad.mit.edu 37 17 73898149 73898149 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:73898149C>T ENST00000309352.3 - 3 871 c.334G>A c.(334-336)Gag>Aag p.E112K MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 112 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCCGAAGCTCCTGGATGGCC 0.597000 23 14 0 0 0.000720815 0 0 C20orf197 284756 broad.mit.edu 37 20 58645066 58645066 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:58645066G>A ENST00000313426.1 + 3 343 c.37G>A c.(37-39)Gca>Aca p.A13T NM_173644.1 NP_775915.1 Q8N268 CT197_HUMAN chromosome 20 open reading frame 197 13 large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(7;2.33e-09) TTATTGGCAGGCAGACGGCTA 0.567000 8 68 0 0 0.000274275 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661510 77661510 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:77661510G>A ENST00000296043.6 + 5 3137 c.2184G>A c.(2182-2184)agG>agA p.R728R NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 728 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CCGAGGGGAGGACCGGTGCCT 0.677000 15 77 0 0 0.000308642 0 0 EOMES 8320 broad.mit.edu 37 3 27760228 27760228 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:27760228C>T ENST00000295743.4 - 4 1518 c.1315G>A c.(1315-1317)Gat>Aat p.D439N EOMES_ENST00000537516.1_Missense_Mutation_p.D144N|EOMES_ENST00000449599.1_Missense_Mutation_p.D439N O95936 EOMES_HUMAN eomesodermin 439 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 ACACTCACATCGGTGTTTTGG 0.438000 22 149 0 0 0.000586117 0 0 OSCP1 127700 broad.mit.edu 37 1 36887763 36887763 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:36887763G>A ENST00000356637.5 - 8 900 c.837C>T c.(835-837)gcC>gcT p.A279A OSCP1_ENST00000495222.1_5'UTR|OSCP1_ENST00000235532.5_Silent_p.A269A|OSCP1_ENST00000433045.2_Silent_p.A224A|OSCP1_ENST00000315643.9_Silent_p.A279A Q8WVF1 OSCP1_HUMAN organic solute carrier partner 1 279 transport basal plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 22 GGGTCCATGAGGCTAAGTTCT 0.473000 14 80 0 0 0.000308642 0 0 OTOGL 283310 broad.mit.edu 37 12 80750683 80750683 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:80750683C>T ENST00000458043.2 + 48 5987 c.5981C>T c.(5980-5982)tCc>tTc p.S1994F OTOGL_ENST00000547103.1_Missense_Mutation_p.S1982F|OTOGL_ENST00000546620.1_Missense_Mutation_p.S13F NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TGTTGTTTTTCCCCTTTTTGT 0.368000 5 11 0 0 0.000602214 0 0 RASIP1 54922 broad.mit.edu 37 19 49243482 49243482 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:49243482G>A ENST00000222145.4 - 2 262 c.58C>T c.(58-60)Ccc>Tcc p.P20S NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 20 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) AGGCCCACGGGGAGATGAAGC 0.637000 12 48 0 0 0.000151284 0 0 CYP2C18 1562 broad.mit.edu 37 10 96447594 96447594 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:96447594G>A ENST00000285979.6 + 2 435 c.236G>A c.(235-237)gGa>gAa p.G79E CYP2C18_ENST00000339022.5_Missense_Mutation_p.G79E NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 p.G79V(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) GTGTTGCATGGATATGAAGCA 0.423000 4 23 0 0 3.59834e-05 0 0 KRT12 3859 broad.mit.edu 37 17 39021204 39021204 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:39021204C>T ENST00000251643.4 - 3 684 c.661G>A c.(661-663)Gaa>Aaa p.E221K NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 221 Coil 1B.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) AGGGCCAGTTCATTCTCATAC 0.537000 6 40 0 0 8.12818e-05 0 0 ZNF683 257101 broad.mit.edu 37 1 26691131 26691131 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:26691131G>A ENST00000436292.1 - 4 1026 c.906C>T c.(904-906)tcC>tcT p.S302S ZNF683_ENST00000403843.1_Silent_p.S302S|ZNF683_ENST00000349618.3_Silent_p.S302S|ZNF683_ENST00000374204.1_Silent_p.S302S Q8IZ20 ZN683_HUMAN zinc finger protein 683 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) TGCCTGTCTGGGAACTCAATG 0.587000 66 139 0 0 0.000781405 0 0 GRB10 2887 broad.mit.edu 37 7 50682476 50682476 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:50682476G>A ENST00000403097.1 - 11 1848 c.1068C>T c.(1066-1068)ctC>ctT p.L356L GRB10_ENST00000402497.1_Silent_p.L304L|GRB10_ENST00000402578.1_Silent_p.L304L|GRB10_ENST00000398812.2_Silent_p.L362L|GRB10_ENST00000357271.5_Silent_p.L316L|GRB10_ENST00000401949.1_Silent_p.L362L|GRB10_ENST00000335866.3_Silent_p.L304L|GRB10_ENST00000439599.1_Silent_p.L356L|GRB10_ENST00000398810.2_Silent_p.L304L|GRB10_ENST00000407526.1_Silent_p.L304L|GRB10_ENST00000406641.1_Silent_p.L304L Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 362 PH. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) CCTTTATGCAGAGCCCGTGGT 0.582000 Russell-Silver syndrome 18 141 0 0 0.000229342 0 0 XIST 7503 broad.mit.edu 37 X 73065144 73065144 + RNA SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:73065144G>A ENST00000429829.1 - 0 7444 NR_001564.2 CCAGGAAAAGGGGCCTTGGTG 0.493000 16 32 0 0 0.000566183 0 0 IGKV2-24 28923 broad.mit.edu 37 2 89475930 89475930 + RNA SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:89475930G>A ENST00000484817.1 - 0 271 TGGGACCCCAGAGAACCGGTT 0.507000 12 55 0 0 0.000308642 0 0 FAM83B 222584 broad.mit.edu 37 6 54805985 54805985 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:54805985C>T ENST00000306858.7 + 5 2332 c.2216C>T c.(2215-2217)tCc>tTc p.S739F NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 739 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAATCAGTTTCCATTGCTGCT 0.398000 5 7 0 0 3.59834e-05 0 0 ROBO3 64221 broad.mit.edu 37 11 124740156 124740156 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:124740156C>T ENST00000397801.1 + 5 1054 c.862C>T c.(862-864)Cgt>Tgt p.R288C ROBO3_ENST00000538940.1_Missense_Mutation_p.R266C NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 288 Ig-like C2-type 3. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TCCCCCACCTCGTCTACGCTG 0.582000 12 23 0 0 6.40141e-05 0 0 MYB 4602 broad.mit.edu 37 6 135507108 135507108 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:135507108C>T ENST00000341911.5 + 2 290 c.91C>T c.(91-93)Ccc>Tcc p.P31S MYB_ENST00000525369.1_Missense_Mutation_p.P31S|MYB_ENST00000534044.1_Missense_Mutation_p.P31S|MYB_ENST00000527615.1_Missense_Mutation_p.P31S|MYB_ENST00000316528.8_Missense_Mutation_p.P31S|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000528774.1_Missense_Mutation_p.P31S|MYB_ENST00000442647.2_Missense_Mutation_p.P31S|MYB_ENST00000367814.4_Missense_Mutation_p.P31S|MYB_ENST00000420123.2_Missense_Mutation_p.P31S|MYB_ENST00000533624.1_Missense_Mutation_p.P31S|MYB_ENST00000534121.1_Missense_Mutation_p.P31S NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 31 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) TGGGCTGCTTCCCAAGTCTGG 0.438000 T NFIB adenoid cystic carcinoma 10 29 0 0 0.000673444 0 0 DLK2 65989 broad.mit.edu 37 6 43420853 43420853 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:43420853C>T ENST00000357338.3 - 4 861 c.161G>A c.(160-162)gGg>gAg p.G54E DLK2_ENST00000414245.1_Missense_Mutation_p.G54E|DLK2_ENST00000372485.1_Missense_Mutation_p.G54E|DLK2_ENST00000372488.3_Missense_Mutation_p.G54E NM_206539.1 NP_996262.1 Q6UY11 DLK2_HUMAN delta-like 2 homolog (Drosophila) 54 EGF-like 1. integral to membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) ACAGTGCAGCCCCTCCCAGCC 0.612000 4 21 0 0 0.00024832 0 0 MYO18B 84700 broad.mit.edu 37 22 26423473 26423473 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr22:26423473C>T ENST00000335473.7 + 43 7783 c.7533C>T c.(7531-7533)tcC>tcT p.S2511S MYO18B_ENST00000536101.1_Silent_p.S2511S|MYO18B_ENST00000407587.2_Silent_p.S2512S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2511 Poly-Ser. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CGTCCTCATCCTCCGGCTCCA 0.577000 19 21 0 0 0.000175454 0 0 CACNA1E 777 broad.mit.edu 37 1 181765861 181765861 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:181765861G>A ENST00000526775.1 + 45 6245 c.6080G>A c.(6079-6081)cGa>cAa p.R2027Q CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1978Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2070Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2046Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1653Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2089Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2040Q NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2089 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.R2089Q(1)|p.R2046Q(1) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCAAAAGAGCGAAAGCATCTT 0.572000 19 33 0 0 0.000229342 0 0 MIR329-1 574408 broad.mit.edu 37 14 101493169 101493169 + RNA SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:101493169G>A ENST00000385028.1 + 0 48 NR_029967.1 TAATGAGGACGAAACACACCT 0.468000 20 108 0 0 0.00047179 0 0 ITGB8 3696 broad.mit.edu 37 7 20418758 20418758 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:20418758C>T ENST00000222573.3 + 4 1157 c.473C>T c.(472-474)tCa>tTa p.S158L ITGB8_ENST00000537992.1_Missense_Mutation_p.S23L NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 158 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GTCTCAGCATCAATGCACAAT 0.348000 13 94 0 0 0.00010058 0 0 CCPG1 9236 broad.mit.edu 37 15 55657426 55657426 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:55657426G>A ENST00000310958.6 - 7 1086 c.788C>T c.(787-789)tCc>tTc p.S263F CCPG1_ENST00000442196.3_Missense_Mutation_p.S263F|CCPG1_ENST00000569205.1_Missense_Mutation_p.S263F|CCPG1_ENST00000425574.3_Missense_Mutation_p.S263F|DYX1C1-CCPG1_ENST00000565113.1_RNA NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 263 Interaction with MCF2L and SRC (By similarity). cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) TTGACACTGGGAAAGATAATC 0.274000 17 151 0 0 0.000132079 0 0 ZEB1 6935 broad.mit.edu 37 10 31799743 31799743 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:31799743C>T ENST00000446923.2 + 5 967 c.576C>T c.(574-576)acC>acT p.T192T ZEB1_ENST00000542815.3_Silent_p.T141T|ZEB1_ENST00000560721.2_Silent_p.T188T|ZEB1_ENST00000361642.5_Silent_p.T209T|ZEB1_ENST00000320985.10_Silent_p.T208T|ZEB1_ENST00000559858.1_3'UTR NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 208 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) GCAGTTACACCTTTGCATACA 0.378000 4 19 0 0 0.00024832 0 0 TMEM248 55069 broad.mit.edu 37 7 66406954 66406954 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:66406954C>T ENST00000341567.4 + 2 357 c.102C>T c.(100-102)ttC>ttT p.F34F NM_017994.4 NP_060464.1 transmembrane protein 248 CCATAGCTTTCCTGACCCTGG 0.527000 11 96 0 0 0.00010058 0 0 NLRP8 126205 broad.mit.edu 37 19 56459545 56459545 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:56459545C>T ENST00000291971.3 + 1 348 c.277C>T c.(277-279)Cct>Tct p.P93S NLRP8_ENST00000590542.1_Missense_Mutation_p.P93S NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 93 DAPIN. 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) AGAGCGTTTCCCTGGACGACG 0.507000 6 29 0 0 3.59834e-05 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 82 0 0 0.000602214 0 0 PTPRD 5789 broad.mit.edu 37 9 8504363 8504363 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:8504363C>T ENST00000381196.4 - 20 2263 c.1720G>A c.(1720-1722)Gga>Aga p.G574R PTPRD_ENST00000397606.3_Missense_Mutation_p.G564R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G574R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G574R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G574R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G561R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G564R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G571R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G561R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G571R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G574R NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 574 Fibronectin type-III 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.G574*(4) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGTTTCAGTCCTTGCAGCCTA 0.443000 TSP Lung(15;0.13) 9 50 0 0 0.000151284 0 0 DDX51 317781 broad.mit.edu 37 12 132624716 132624716 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:132624716C>T ENST00000397333.3 - 12 1740 c.1702G>A c.(1702-1704)Ggc>Agc p.G568S NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 568 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) ACGTCGATGCCTCGCGCGGTG 0.711000 13 39 0 0 0.000219431 0 0 EFNB3 1949 broad.mit.edu 37 17 7608943 7608943 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:7608943G>A ENST00000226091.2 + 1 424 c.27G>A c.(25-27)ggG>ggA p.G9G NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 9 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) CTGGGCCGGGGGGCGTGCGAG 0.711000 9 12 0 0 0.000442599 0 0 TRPV5 56302 broad.mit.edu 37 7 142612196 142612196 + Missense_Mutation SNP A A C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:142612196A>C ENST00000265310.1 - 11 1655 c.1307T>G c.(1306-1308)gTg>gGg p.V436G NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 436 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) GGTCACCAGCACCAGGGAGGC 0.557000 8 9 0 0 0.000157383 0 0 KCNN2 3781 broad.mit.edu 37 5 113740249 113740249 + Missense_Mutation SNP T T C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:113740249T>C ENST00000512097.3 + 4 1715 c.697T>C c.(697-699)Tat>Cat p.Y233H KCNN2_ENST00000264773.3_Missense_Mutation_p.Y233H|KCNN2_ENST00000507750.1_Intron Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 233 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) ACCTGGGAATTATACATTCAC 0.438000 7 33 0 0 0.000673444 0 0 FBLN2 2199 broad.mit.edu 37 3 13669404 13669404 + Missense_Mutation SNP T T G TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:13669404T>G ENST00000404922.3 + 11 2623 c.2504T>G c.(2503-2505)tTc>tGc p.F835C FBLN2_ENST00000492059.1_Missense_Mutation_p.F835C|FBLN2_ENST00000295760.7_Missense_Mutation_p.F788C|FBLN2_ENST00000535798.1_Missense_Mutation_p.F814C NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 834 EGF-like 5; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) AAGGGCTCCTTCTACTGCCAG 0.642000 8 63 0 0 0.000157383 0 0 PKD1L1 168507 broad.mit.edu 37 7 47847972 47847972 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:47847972C>T ENST00000289672.2 - 52 7750 c.7700G>A c.(7699-7701)gGa>gAa p.G2567E C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2567 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GAGGCTCACTCCAACCACGGA 0.522000 9 53 0 0 0.000151284 0 0 PBX2 5089 broad.mit.edu 37 6 32155893 32155893 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:32155893C>T ENST00000375050.4 - 4 854 c.584G>A c.(583-585)aGg>aAg p.R195K NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 195 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 GCTCTGCTCCCTCAGCAGGTT 0.587000 42 218 0 0 0.000781405 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373960 86373960 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:86373960G>A ENST00000604798.1 - 8 1748 c.544C>T c.(544-546)Cta>Tta p.L182L MGAT4C_ENST00000332156.1_Silent_p.L182L|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Silent_p.L211L|MGAT4C_ENST00000548651.1_Silent_p.L182L|MGAT4C_ENST00000549405.2_Silent_p.L182L|MGAT4C_ENST00000552808.2_Silent_p.L182L Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 182 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 AGGCCATCTAGGATTGGGTAA 0.373000 6 16 0 0 3.59834e-05 0 0 NUBP2 10101 broad.mit.edu 37 16 1836596 1836596 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:1836596C>T ENST00000262302.9 + 2 195 c.75C>T c.(73-75)ggC>ggT p.G25G NUBP2_ENST00000565987.1_5'UTR|NUBP2_ENST00000565134.1_Silent_p.G25G|NUBP2_ENST00000568706.1_5'UTR|NUBP2_ENST00000543305.1_5'UTR NM_012225.2 NP_036357.1 Q9Y5Y2 NUBP2_HUMAN nucleotide binding protein 2 25 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 GAAAGGGGGGCGTTGGGAAAA 0.662000 10 64 0 0 6.40141e-05 0 0 SLC1A2 6506 broad.mit.edu 37 11 35287299 35287299 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:35287299C>T ENST00000278379.3 - 10 1710 c.1428G>A c.(1426-1428)agG>agA p.R476R SLC1A2_ENST00000395750.1_Silent_p.R467R|SLC1A2_ENST00000395753.1_Silent_p.R467R|SLC1A2_ENST00000479543.1_5'UTR|SLC1A2_ENST00000606205.1_Silent_p.R476R NM_004171.3 NP_004162.2 P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 476 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) AAGTTCTCATCCTGTCCCTGG 0.488000 16 23 0 0 0.000422831 0 0 EPHA8 2046 broad.mit.edu 37 1 22903359 22903359 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:22903359G>A ENST00000166244.3 + 3 881 c.809G>A c.(808-810)cGg>cAg p.R270Q EPHA8_ENST00000374644.4_Missense_Mutation_p.R270Q|EPHA8_ENST00000538803.1_Missense_Mutation_p.R270Q NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 270 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GAGGAGCGGCGGGATGCCTGT 0.677000 7 28 0 0 0.000157383 0 0 COL22A1 169044 broad.mit.edu 37 8 139734322 139734322 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:139734322C>T ENST00000303045.6 - 26 2704 c.2258G>A c.(2257-2259)gGa>gAa p.G753E COL22A1_ENST00000435777.1_Missense_Mutation_p.G753E|COL22A1_ENST00000341807.4_Intron NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 753 Collagen-like 5.|Gly-rich.|Pro-rich. GKDGPNGPPGPPGTK -> CILAAKTAPGLKQLN (in Ref. 2; AAH42075). cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCCGTCCTTTCCAGGGGGTCC 0.478000 HNSCC(7;0.00092) 3 9 0 0 0.00024832 0 0 IGKV1-27 28935 broad.mit.edu 37 2 89513367 89513367 + RNA SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:89513367G>A ENST00000498435.1 - 0 46 AGCTGAGCAGGGACCCTCATG 0.522000 15 29 0 0 0.000308642 0 0 BRINP3 339479 broad.mit.edu 37 1 190067904 190067904 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:190067904G>A ENST00000367462.3 - 8 1776 c.1545C>T c.(1543-1545)atC>atT p.I515I FAM5C_ENST00000534846.1_Silent_p.I413I|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 515 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGTCATTGCTGATAAAAATGG 0.453000 58 117 0 0 0.000781405 0 0 POLD1 5424 broad.mit.edu 37 19 50906833 50906833 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:50906833C>T ENST00000440232.2 + 10 1274 c.1221C>T c.(1219-1221)atC>atT p.I407I POLD1_ENST00000595904.1_Silent_p.I407I|POLD1_ENST00000599857.1_Silent_p.I407I NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 407 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CGTACCTCATCTCTCGGGCCC 0.637000 DNA polymerases (catalytic subunits) 30 71 0 0 0.000409698 0 0 OR8K5 219453 broad.mit.edu 37 11 55927077 55927077 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:55927077G>A ENST00000313447.1 - 1 716 c.717C>T c.(715-717)tcC>tcT p.S239S NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) AACCACATGTGGAGAAAGCCT 0.408000 3 6 0 0 0.00024832 0 0 OSBPL7 114881 broad.mit.edu 37 17 45892594 45892594 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:45892594G>A ENST00000007414.3 - 13 1435 c.1244C>T c.(1243-1245)tCt>tTt p.S415F OSBPL7_ENST00000392507.3_Missense_Mutation_p.S415F NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 415 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 ATTCTCAGAAGAGCTGGCGGA 0.602000 4 31 0 0 0.000602214 0 0 TRIP12 9320 broad.mit.edu 37 2 230636271 230636271 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:230636271G>A ENST00000283943.5 - 38 5725 c.5547C>T c.(5545-5547)ttC>ttT p.F1849F TRIP12_ENST00000389044.4_Silent_p.F1897F|TRIP12_ENST00000389045.3_Silent_p.F1579F NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1849 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GACTGAGTGGGAAGACTGATT 0.383000 11 26 0 0 0.000219431 0 0 PLA2G16 11145 broad.mit.edu 37 11 63365622 63365622 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:63365622G>A ENST00000323646.5 - 2 383 c.29C>T c.(28-30)cCt>cTt p.P10L PLA2G16_ENST00000394613.3_Intron|PLA2G16_ENST00000415826.1_Missense_Mutation_p.P10L NM_007069.3 NP_009000.2 P53816 PAG16_HUMAN phospholipase A2, group XVI 10 lipid catabolic process integral to membrane|perinuclear region of cytoplasm hydrolase activity|protein binding kidney(2)|lung(1)|ovary(1)|skin(1) 5 CAGGTCTCCAGGCTTAGGCTC 0.522000 12 12 0 0 0.00010058 0 0 OTOA 146183 broad.mit.edu 37 16 21728346 21728346 + Missense_Mutation SNP A A T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:21728346A>T ENST00000388958.3 + 14 1608 c.1607A>T c.(1606-1608)gAt>gTt p.D536V OTOA_ENST00000388957.3_Missense_Mutation_p.D212V|OTOA_ENST00000286149.4_Missense_Mutation_p.D550V|OTOA_ENST00000388956.4_Missense_Mutation_p.D457V NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 550 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GTCCTGAAGGATAAGGAACTT 0.433000 8 61 0 0 0.000673444 0 0 DNAH10 196385 broad.mit.edu 37 12 124350537 124350537 + Nonsense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:124350537C>T ENST00000409039.3 + 40 6755 c.6730C>T c.(6730-6732)Cga>Tga p.R2244* NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2244 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AACTGTCTCTCGATGTGGAAT 0.338000 18 99 0 0 0.000229342 0 0 SEPP1 6414 broad.mit.edu 37 5 42801047 42801047 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:42801047C>T ENST00000514985.1 - 5 1177 c.921G>A c.(919-921)ctG>ctA p.L307L CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_3'UTR|SEPP1_ENST00000511224.1_Silent_p.L307L|SEPP1_ENST00000506577.1_Silent_p.L307L NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 307 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 TTTCAAATATCAGATGTCGAC 0.433000 5 44 0 0 8.12818e-05 0 0 FARSA 2193 broad.mit.edu 37 19 13041110 13041110 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:13041110G>A ENST00000588025.1 - 5 690 c.550C>T c.(550-552)Cgg>Tgg p.R184W FARSA_ENST00000423140.2_Missense_Mutation_p.R144W|FARSA_ENST00000314606.4_Missense_Mutation_p.R144W Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 144 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding p.R144W(1)|p.R144R(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) TGTCCCCCCCGGACCAGCTGG 0.652000 9 39 0 0 0.000442599 0 0 ARSI 340075 broad.mit.edu 37 5 149677575 149677575 + Silent SNP C C T rs142802678 TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:149677575C>T ENST00000328668.7 - 2 1491 c.912G>A c.(910-912)tcG>tcA p.S304S NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 304 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCTGCCCCCCGAGAAAGTCT 0.587000 12 34 0 0 0.00010058 0 0 BCOR 54880 broad.mit.edu 37 X 39923809 39923809 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chrX:39923809G>A ENST00000342274.4 - 7 3644 c.3282C>T c.(3280-3282)gcC>gcT p.A1094A BCOR_ENST00000378463.1_5'UTR|BCOR_ENST00000378455.4_Silent_p.A1076A|BCOR_ENST00000397354.3_Silent_p.A1094A|BCOR_ENST00000378444.4_Silent_p.A1094A NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1094 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TGTCCTCTGGGGCTTCAAAGG 0.577000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 18 36 0 0 0.000175454 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519565 113519565 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:113519565C>T ENST00000284601.3 - 4 1650 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 528 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CTTTGTTTTTCATTAACACCT 0.348000 5 7 0 0 3.59834e-05 0 0 ADRA1D 146 broad.mit.edu 37 20 4202630 4202630 + Missense_Mutation SNP T T C TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:4202630T>C ENST00000379453.4 - 2 1375 c.1259A>G c.(1258-1260)cAg>cGg p.Q420R NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 420 cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) ACGACGGCACTGGCAGCGCAG 0.692000 3 7 0 0 6.4e-05 0 0 PGC 5225 broad.mit.edu 37 6 41712205 41712205 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:41712205G>A ENST00000373025.3 - 3 320 c.258C>T c.(256-258)ttC>ttT p.F86F PGC_ENST00000425343.2_Silent_p.F86F NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) 86 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) AAAGGACCAGGAAGTTCTGGG 0.622000 16 68 0 0 0.000566183 0 0 OGDHL 55753 broad.mit.edu 37 10 50959916 50959916 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:50959916C>T ENST00000374103.4 - 6 791 c.706G>A c.(706-708)Gag>Aag p.E236K OGDHL_ENST00000419399.1_Missense_Mutation_p.E179K|OGDHL_ENST00000432695.1_Missense_Mutation_p.E27K NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 236 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CGCTTCTCCTCGCTGGAGAAC 0.602000 14 71 0 0 0.000151284 0 0 MSH6 2956 broad.mit.edu 37 2 48030752 48030752 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:48030752G>A ENST00000234420.4 + 5 3518 c.3366G>A c.(3364-3366)caG>caA p.Q1122Q FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.Q992Q|MSH6_ENST00000538136.1_Silent_p.Q820Q NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 1122 Poly-Glu. determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAGAGGAGCAGGAAAATGGCA 0.398000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 7 26 0 0 8.12818e-05 0 0 CNTN5 53942 broad.mit.edu 37 11 99690287 99690287 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:99690287C>T ENST00000524871.1 + 4 358 c.68C>T c.(67-69)tCt>tTt p.S23F CNTN5_ENST00000279463.3_Missense_Mutation_p.S23F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S23F|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.S23F NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 23 S -> A (in dbSNP:rs10790978). cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TATTCAAAATCTCTTCCTGGT 0.323000 12 77 0 0 0.00010058 0 0 PTPRS 5802 broad.mit.edu 37 19 5238961 5238961 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:5238961G>A ENST00000372412.4 - 13 2054 c.1821C>T c.(1819-1821)acC>acT p.T607T PTPRS_ENST00000357368.4_Silent_p.T606T|PTPRS_ENST00000348075.2_Silent_p.T593T|PTPRS_ENST00000592099.1_Silent_p.T593T|PTPRS_ENST00000262963.6_Silent_p.T602T|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.T593T|PTPRS_ENST00000353284.2_Silent_p.T593T|PTPRS_ENST00000587303.1_Silent_p.T606T Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 606 Fibronectin type-III 3. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GCACCACGGGGGTGAAGGCGC 0.721000 15 38 0 0 0.000219431 0 0 OR13C4 138804 broad.mit.edu 37 9 107289083 107289083 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:107289083C>T ENST00000277216.3 - 1 407 c.408G>A c.(406-408)atG>atA p.M136I NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 CCACCTTGTTCATGATGATGG 0.458000 12 19 0 0 0.00010058 0 0 GRK4 2868 broad.mit.edu 37 4 3029658 3029658 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:3029658C>T ENST00000398052.4 + 11 1333 c.990C>T c.(988-990)gaC>gaT p.D330D GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000504933.1_Silent_p.D330D|GRK4_ENST00000345167.6_Silent_p.D298D|GRK4_ENST00000398051.4_Silent_p.D298D NM_182982.2 NP_892027.2 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 330 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGATTTCAGACCTCGGTTTGG 0.493000 11 111 0 0 0.000219431 0 0 SSPO 23145 broad.mit.edu 37 7 149521519 149521519 + RNA SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:149521519C>T ENST00000378016.2 + 0 13598 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGTGGTCGCCCTGTGGGCCC 0.687000 4 15 0 0 0.000602214 0 0 HMCN1 83872 broad.mit.edu 37 1 185963949 185963949 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:185963949C>T ENST00000271588.4 + 24 3737 c.3508C>T c.(3508-3510)Cct>Tct p.P1170S HMCN1_ENST00000367492.2_Missense_Mutation_p.P1170S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1170 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATTTCTAGTTCCTCCAAAGAT 0.393000 5 11 0 0 0.000602214 0 0 SCARF1 8578 broad.mit.edu 37 17 1538734 1538734 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:1538734C>T ENST00000263071.4 - 11 1860 c.1811G>A c.(1810-1812)cGa>cAa p.R604Q SCARF1_ENST00000348987.3_Missense_Mutation_p.R518Q|SCARF1_ENST00000571272.1_3'UTR NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 604 Pro/Ser-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCCTGAGCTTCGGCGACTCTG 0.677000 14 64 0 0 0.000308642 0 0 COL15A1 1306 broad.mit.edu 37 9 101765859 101765859 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:101765859G>A ENST00000375001.3 + 8 1613 c.1190G>A c.(1189-1191)gGg>gAg p.G397E NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 397 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CCAGAGGAAGGGGTCACTCCA 0.607000 6 37 0 0 3.59834e-05 0 0 DSEL 92126 broad.mit.edu 37 18 65181271 65181271 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:65181271C>T ENST00000310045.7 - 2 2078 c.605G>A c.(604-606)cGa>cAa p.R202Q NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 192 integral to membrane isomerase activity|sulfotransferase activity p.R202Q(1) NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TTTTTGTCTTCGATGATTATC 0.398000 9 54 0 0 0.000673444 0 0 PDHA2 5161 broad.mit.edu 37 4 96762141 96762141 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:96762141G>A ENST00000295266.4 + 1 903 c.840G>A c.(838-840)atG>atA p.M280I NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 280 M -> L (in dbSNP:rs2229137). glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CCATACTGATGGAGCTGCAAA 0.458000 8 34 0 0 0.000157383 0 0 AMIGO2 347902 broad.mit.edu 37 12 47471823 47471823 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:47471823G>A ENST00000266581.4 - 2 1429 c.963C>T c.(961-963)ttC>ttT p.F321F AMIGO2_ENST00000429635.1_Silent_p.F321F|AMIGO2_ENST00000321382.3_Silent_p.F321F|AMIGO2_ENST00000550413.1_Silent_p.F321F NM_181847.4 NP_862830.1 Q86SJ2 AMGO2_HUMAN adhesion molecule with Ig-like domain 2 321 Ig-like C2-type. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) CCACCCAGATGAAATCCGTAT 0.463000 23 124 0 0 0.000878237 0 0 FAM65C 140876 broad.mit.edu 37 20 49225065 49225065 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:49225065C>T ENST00000327979.2 - 11 1216 c.805G>A c.(805-807)Gag>Aag p.E269K FAM65C_ENST00000535356.1_Missense_Mutation_p.E273K|FAM65C_ENST00000045083.2_Missense_Mutation_p.E269K Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 269 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CCCCGCAACTCCGTCACCTGG 0.682000 15 105 0 0 0.000422831 0 0 FBXW10 10517 broad.mit.edu 37 17 18673257 18673257 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:18673257C>T ENST00000308799.4 + 10 2171 c.1952C>T c.(1951-1953)tCc>tTc p.S651F FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000395667.1_Missense_Mutation_p.S622F|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395665.4_Missense_Mutation_p.S622F Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 622 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 CTCGACGTGTCCCTTCTCTTC 0.507000 30 137 0 0 0.000409698 0 0 NOX5 79400 broad.mit.edu 37 15 69335040 69335040 + Nonsense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:69335040G>A ENST00000260364.5 + 11 1789 c.1488G>A c.(1486-1488)tgG>tgA p.W496* NOX5_ENST00000448182.3_Nonsense_Mutation_p.W468*|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Nonsense_Mutation_p.W486*|NOX5_ENST00000388866.3_Nonsense_Mutation_p.W514*|NOX5_ENST00000455873.3_Nonsense_Mutation_p.W479* Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 514 C-terminal catalytic region.|FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 AAGGCCAGTGGACAAACAGGC 0.547000 11 32 0 0 6.40141e-05 0 0 FBXW10 10517 broad.mit.edu 37 17 18682444 18682444 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:18682444G>A ENST00000308799.4 + 12 3238 c.3019G>A c.(3019-3021)Gaa>Aaa p.E1007K FBXW10_ENST00000395667.1_Missense_Mutation_p.E997K|FBXW10_ENST00000301938.4_Missense_Mutation_p.E945K|FBXW10_ENST00000395665.4_Missense_Mutation_p.E998K Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 998 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GGAGCACCAGGAAGCCAAGAT 0.502000 17 71 0 0 0.00074312 0 0 SCN3A 6328 broad.mit.edu 37 2 165947405 165947405 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:165947405C>T ENST00000360093.3 - 28 5749 c.5258G>A c.(5257-5259)aGt>aAt p.S1753N SCN3A_ENST00000409101.3_Missense_Mutation_p.S1704N|SCN3A_ENST00000540861.1_Missense_Mutation_p.S236N|SCN3A_ENST00000283254.7_Missense_Mutation_p.S1753N|AC013463.2_ENST00000431341.1_RNA NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1753 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GATGATGTAACTGACAAAAAA 0.483000 16 10 0 0 0.000422831 0 0 SPATA8 145946 broad.mit.edu 37 15 97326937 97326937 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:97326937G>A ENST00000328504.3 + 1 319 c.52G>A c.(52-54)Gaa>Aaa p.E18K SPATA8_ENST00000558553.1_Intron NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 18 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) TCTCTACCAGGAAATTGCCCC 0.552000 11 63 0 0 0.000673444 0 0 ZNF786 136051 broad.mit.edu 37 7 148769496 148769496 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:148769496G>A ENST00000316286.9 - 3 382 c.110C>T c.(109-111)tCc>tTc p.S37F ZNF786_ENST00000491431.1_Missense_Mutation_p.S123F|ZNF786_ENST00000451334.3_Missense_Mutation_p.S86F Q8N393 ZN786_HUMAN zinc finger protein 786 123 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGATCCAAAGGAACACTGGCT 0.507000 17 16 0 0 0.000566183 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988033 154988033 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:154988033C>T ENST00000368426.3 + 3 1034 c.897C>T c.(895-897)tcC>tcT p.S299S ZBTB7B_ENST00000292176.2_Silent_p.S299S|ZBTB7B_ENST00000417934.2_Silent_p.S333S|ZBTB7B_ENST00000535420.1_Silent_p.S299S NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 299 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 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) CCCCGCTGTCCCCAGAGGAGC 0.632000 5 48 0 0 0.000602214 0 0 RGS3 5998 broad.mit.edu 37 9 116269666 116269666 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:116269666G>A ENST00000374140.2 + 14 1394 c.1185G>A c.(1183-1185)tcG>tcA p.S395S RGS3_ENST00000394646.3_Silent_p.S114S|RGS3_ENST00000317613.6_Silent_p.S283S|RGS3_ENST00000374136.1_Silent_p.S21S|RGS3_ENST00000343817.5_Silent_p.S114S|RGS3_ENST00000350696.5_Silent_p.S395S NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 395 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CCTGCAAGTCGACACATGACC 0.647000 22 45 0 0 0.000375601 0 0 C14orf182 283551 broad.mit.edu 37 14 50472359 50472359 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:50472359G>A ENST00000399206.1 - 1 1879 c.159C>T c.(157-159)ttC>ttT p.F53F C14orf182_ENST00000529902.1_5'UTR NM_001012706.1 NP_001012724.1 A1A4T8 CN182_HUMAN chromosome 14 open reading frame 182 53 large_intestine(2)|urinary_tract(1) 3 GCAAGAAGACGAAATGTCTGT 0.532000 19 146 0 0 0.000958276 0 0 PLCE1 51196 broad.mit.edu 37 10 95849071 95849071 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:95849071G>A ENST00000371375.1 + 1 220 c.220G>A c.(220-222)Gag>Aag p.E74K PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371380.2_Intron|PLCE1_ENST00000371385.3_Missense_Mutation_p.E74K Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 0 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CCCGCTCTCTGAGGTACCCAA 0.517000 12 55 0 0 0.00010058 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806489 97806489 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:97806489C>T ENST00000358642.2 + 1 473 c.473C>T c.(472-474)cCt>cTt p.P158L NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, member 2 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 TTCCTGCATCCTCTGGTTCAT 0.353000 14 90 0 0 0.000308642 0 0 PDE6C 5146 broad.mit.edu 37 10 95380650 95380650 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:95380650C>T ENST00000371447.3 + 3 774 c.636C>T c.(634-636)gtC>gtT p.V212V NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 212 GAF 1. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) GTCTGTAGGTCTTTTCCAAAT 0.413000 26 191 0 0 0.000184323 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517364 140517364 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:140517364G>A ENST00000231134.5 + 1 2565 c.2348G>A c.(2347-2349)gGg>gAg p.G783E NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 783 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAAGAAATAGGGAAAACTGCT 0.468000 24 114 0 0 0.000586117 0 0 NCEH1 57552 broad.mit.edu 37 3 172351310 172351310 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:172351310G>A ENST00000475381.1 - 5 1415 c.1182C>T c.(1180-1182)atC>atT p.I394I NCEH1_ENST00000273512.3_Silent_p.I426I|NCEH1_ENST00000543711.1_Silent_p.I261I|NCEH1_ENST00000538775.1_Silent_p.I434I Q6PIU2 NCEH1_HUMAN neutral cholesterol ester hydrolase 1 394 lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 TCCTAGTCCGGATTCCCACTG 0.502000 6 46 0 0 8.12818e-05 0 0 F5 2153 broad.mit.edu 37 1 169505778 169505778 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:169505778G>A ENST00000367796.3 - 14 5153 c.4952C>T c.(4951-4953)cCt>cTt p.P1651L F5_ENST00000367797.3_Missense_Mutation_p.P1646L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1646 F5/8 type A 3.|Plastocyanin-like 5. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTGATAATAGGACCAAGAAT 0.428000 4 23 0 0 0.000602214 0 0 ATP2C2 9914 broad.mit.edu 37 16 84486767 84486767 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:84486767G>A ENST00000416219.2 + 19 1944 c.1855G>A c.(1855-1857)Ggg>Agg p.G619R ATP2C2_ENST00000262429.4_Missense_Mutation_p.G619R|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 619 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding p.G619R(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CCTGTGCAACGGGAAGCTGCA 0.672000 9 26 0 0 0.000274275 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887203 9887203 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr18:9887203C>T ENST00000306084.6 + 2 926 c.727C>T c.(727-729)Cca>Tca p.P243S TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.P176S NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 243 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CCCCAAGTCCCCAGAAGAAAC 0.572000 9 44 0 0 0.000673444 0 0 HELZ 9931 broad.mit.edu 37 17 65174871 65174871 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr17:65174871G>A ENST00000358691.5 - 13 1500 c.1334C>T c.(1333-1335)tCc>tTc p.S445F HELZ_ENST00000580168.1_Missense_Mutation_p.S445F NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GTCTAAAACGGACTGAGTAAA 0.373000 37 68 0 0 0.000228196 0 0 CASS4 57091 broad.mit.edu 37 20 55026888 55026888 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:55026888C>T ENST00000371336.3 + 5 857 c.656C>T c.(655-657)cCc>cTc p.P219L CASS4_ENST00000360314.3_Missense_Mutation_p.P219L|CASS4_ENST00000434344.1_Intron NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 219 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CAGGGTGTTCCCCTGATATCA 0.498000 8 41 0 0 0.000442599 0 0 KCNQ2 3785 broad.mit.edu 37 20 62065217 62065217 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:62065217C>T ENST00000354587.3 - 8 1239 c.1063G>A c.(1063-1065)Gac>Aac p.D355N KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000430658.1_Missense_Mutation_p.D355N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D355N|KCNQ2_ENST00000359125.2_Missense_Mutation_p.D355N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D355N|KCNQ2_ENST00000370226.1_Missense_Mutation_p.D355N|KCNQ2_ENST00000344425.5_Missense_Mutation_p.D355N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D355N|KCNQ2_ENST00000370221.1_Missense_Mutation_p.D355N|KCNQ2_ENST00000344462.3_Missense_Mutation_p.D355N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D355N|KCNQ2_ENST00000370222.3_Missense_Mutation_p.D355N O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 355 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GAGTGCAGGTCTGTGCGCGAG 0.637000 14 107 0 0 0.000219431 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68250149 68250149 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr14:68250149G>A ENST00000347230.4 - 21 3858 c.3720C>T c.(3718-3720)tcC>tcT p.S1240S ZFYVE26_ENST00000555452.1_Silent_p.S1240S NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1240 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GGCTTTGCCGGGATGAGCAAA 0.592000 9 47 0 0 0.000274275 0 0 PEG3 5178 broad.mit.edu 37 19 57327719 57327719 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:57327719G>A ENST00000326441.9 - 10 2454 c.2091C>T c.(2089-2091)agC>agT p.S697S PEG3_ENST00000423103.2_Silent_p.S697S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Silent_p.S571S|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Silent_p.S573S|ZIM2_ENST00000601070.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 697 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGAGCTCTGAGCTTTGCATGA 0.433000 6 35 0 0 3.59834e-05 0 0 OR1I1 126370 broad.mit.edu 37 19 15197931 15197931 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:15197931G>A ENST00000209540.2 + 1 141 c.55G>A c.(55-57)Gaa>Aaa p.E19K NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 GGGACTCTCAGAAAAGCCAGA 0.468000 12 56 0 0 0.00010058 0 0 NALCN 259232 broad.mit.edu 37 13 101763483 101763483 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:101763483C>T ENST00000251127.6 - 19 2368 c.2287G>A c.(2287-2289)Gag>Aag p.E763K NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 763 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TACCTGCGCTCTTGGCGGATA 0.547000 11 40 0 0 0.00010058 0 0 PARP4 143 broad.mit.edu 37 13 25029202 25029202 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr13:25029202G>A ENST00000381989.3 - 22 2816 c.2711C>T c.(2710-2712)tCc>tTc p.S904F NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 904 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 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) ACCCACCAAGGACAGCGCATG 0.512000 33 210 0 0 0.000191422 0 0 KCNN3 3782 broad.mit.edu 37 1 154744469 154744469 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:154744469G>A ENST00000271915.3 - 3 1745 c.1430C>T c.(1429-1431)aCc>aTc p.T477I KCNN3_ENST00000361147.4_Missense_Mutation_p.T172I|KCNN3_ENST00000358505.2_Missense_Mutation_p.T164I NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 482 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GACACGGACGGTCCAGGCAGC 0.547000 8 79 0 0 0.000673444 0 0 BHMT 635 broad.mit.edu 37 5 78411693 78411693 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:78411693C>T ENST00000274353.5 + 2 244 c.137C>T c.(136-138)cCt>cTt p.P46L BHMT_ENST00000524080.1_Missense_Mutation_p.P46L|DMGDH_ENST00000520388.1_Intron NM_001713.2 NP_001704.2 Q93088 BHMT1_HUMAN betaine--homocysteine S-methyltransferase 46 Hcy-binding. protein methylation|regulation of homocysteine metabolic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2) 29 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36) L-Methionine(DB00134) CCCTGGACTCCTGAAGCTGCT 0.517000 9 28 0 0 0.000274275 0 0 ACACB 32 broad.mit.edu 37 12 109629448 109629448 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr12:109629448C>T ENST00000338432.7 + 14 2294 c.2175C>T c.(2173-2175)tcC>tcT p.S725S ACACB_ENST00000377854.5_Silent_p.S725S|ACACB_ENST00000377848.3_Silent_p.S725S O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 725 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) AGGAACTGTCCATCCGAGGCG 0.488000 24 118 0 0 0.000339439 0 0 PBXIP1 57326 broad.mit.edu 37 1 154923827 154923827 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:154923827C>T ENST00000368463.3 - 5 361 c.290G>A c.(289-291)gGa>gAa p.G97E PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000368465.1_Missense_Mutation_p.G68E|PBXIP1_ENST00000368460.3_Missense_Mutation_p.G97E|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Intron NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 97 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TACTGTGTCTCCTGGGCCAGG 0.627000 32 34 0 0 0.000409698 0 0 TBC1D23 55773 broad.mit.edu 37 3 100009431 100009431 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:100009431C>T ENST00000394144.4 + 5 493 c.486C>T c.(484-486)tcC>tcT p.S162S TBC1D23_ENST00000344949.5_Silent_p.S162S|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Silent_p.S25S NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 162 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 GGGATTGTTCCCAGAAAGGGA 0.393000 9 43 0 0 0.000673444 0 0 OR56A4 120793 broad.mit.edu 37 11 6023653 6023653 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:6023653G>A ENST00000330728.4 - 1 771 c.726C>T c.(724-726)ctC>ctT p.L242L NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCACAAGAGAGTTTGGACA 0.433000 17 15 0 0 0.00074312 0 0 COL6A3 1293 broad.mit.edu 37 2 238285803 238285803 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:238285803C>T ENST00000295550.4 - 7 3134 c.2682G>A c.(2680-2682)caG>caA p.Q894Q COL6A3_ENST00000353578.4_Silent_p.Q688Q|COL6A3_ENST00000392003.2_Silent_p.Q487Q|COL6A3_ENST00000409809.1_Silent_p.Q688Q|COL6A3_ENST00000347401.3_Silent_p.Q693Q|COL6A3_ENST00000472056.1_Silent_p.Q287Q|COL6A3_ENST00000346358.4_Silent_p.Q694Q|COL6A3_ENST00000392004.3_Silent_p.Q688Q NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 894 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CAGGCTTACTCTGGTGCTCAT 0.507000 31 98 0 0 0.000339439 0 0 SLC22A7 10864 broad.mit.edu 37 6 43269383 43269383 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:43269383C>T ENST00000372585.5 + 7 1109 c.1014C>T c.(1012-1014)ttC>ttT p.F338F SLC22A7_ENST00000372589.3_Silent_p.F336F|SLC22A7_ENST00000372574.3_Silent_p.F336F|SLC22A7_ENST00000487175.1_3'UTR NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 338 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) TAGACCTGTTCCGCACACCAC 0.602000 8 35 0 0 0.000274275 0 0 MLXIPL 51085 broad.mit.edu 37 7 73021319 73021319 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:73021319G>A ENST00000313375.3 - 5 650 c.603C>T c.(601-603)ctC>ctT p.L201L MLXIPL_ENST00000429400.2_Silent_p.L201L|MLXIPL_ENST00000414749.2_Silent_p.L201L|MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000434326.1_Intron|MLXIPL_ENST00000354613.1_Silent_p.L201L NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 201 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) TAGGGGCCAGGAGGTCATCTT 0.597000 OREG0018107 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 37 0 0 8.12818e-05 0 0 WDR5B 54554 broad.mit.edu 37 3 122133664 122133664 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr3:122133664C>T ENST00000330689.4 - 1 1218 c.712G>A c.(712-714)Gat>Aat p.D238N NM_019069.3 NP_061942.2 Q86VZ2 WDR5B_HUMAN WD repeat domain 5B 238 kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.0704) CTGCTATAATCCCATAGTTTA 0.378000 19 91 0 0 0.000295444 0 0 GRID1 2894 broad.mit.edu 37 10 87614336 87614336 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:87614336G>A ENST00000327946.7 - 8 1235 c.1150C>T c.(1150-1152)Cgg>Tgg p.R384W NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 384 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.R384W(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTGTCCTCCCGAAACTCCATC 0.507000 Multiple Myeloma(13;0.14) 6 33 0 0 8.12818e-05 0 0 SNTG2 54221 broad.mit.edu 37 2 1079206 1079206 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:1079206G>A ENST00000308624.5 + 2 204 c.75G>A c.(73-75)acG>acA p.T25T SNTG2_ENST00000407292.1_Silent_p.T25T NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 25 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.T25T(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CCCTACAGACGAAAACCACTA 0.478000 6 104 0 0 8.12818e-05 0 0 CEACAM20 125931 broad.mit.edu 37 19 45028023 45028023 + RNA SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr19:45028023C>T ENST00000454753.1 - 0 746 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ACTCACACTTCACATCCAGGA 0.527000 25 189 0 0 0.000586117 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr9:21971029C>T ENST00000304494.5 - 2 599 c.329G>A c.(328-330)tGg>tAg p.W110* CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Silent_p.L124L NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 110 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGACGGCCCCAGGCATCGCG 0.731000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 92 94 0 0 0.000781405 0 0 CASC5 57082 broad.mit.edu 37 15 40949309 40949309 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:40949309C>T ENST00000346991.5 + 24 7022 c.6632C>T c.(6631-6633)tCc>tTc p.S2211F CASC5_ENST00000399668.2_Missense_Mutation_p.S2185F Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 2211 Necessary for kinetochore localization and for interaction with NSL1 and DSN1. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) gaaaaggaatcctggaagaag 0.388000 11 61 0 0 6.40141e-05 0 0 HK3 3101 broad.mit.edu 37 5 176314301 176314301 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:176314301C>T ENST00000292432.5 - 12 1729 c.1638G>A c.(1636-1638)acG>acA p.T546T NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 546 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACGGAAGTTCGTGCCCCCGA 0.642000 13 49 0 0 0.000219431 0 0 DIS3L 115752 broad.mit.edu 37 15 66615079 66615079 + Missense_Mutation SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr15:66615079G>A ENST00000319194.5 + 10 1393 c.1132G>A c.(1132-1134)Gag>Aag p.E378K DIS3L_ENST00000319212.4_Missense_Mutation_p.E461K|DIS3L_ENST00000441424.2_3'UTR|RP11-352G18.2_ENST00000565993.1_RNA NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 461 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GAGTCCTGAAGAGGAACAAAA 0.428000 6 43 0 0 8.12818e-05 0 0 DSCAML1 57453 broad.mit.edu 37 11 117391953 117391953 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:117391953C>T ENST00000321322.6 - 6 1286 c.1285G>A c.(1285-1287)Gag>Aag p.E429K DSCAML1_ENST00000527706.1_Missense_Mutation_p.E159K NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 369 Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity p.E429*(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGCAGCGTCTCGTTGCTGAGC 0.642000 42 68 0 0 0.000781405 0 0 XKR4 114786 broad.mit.edu 37 8 56435900 56435900 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr8:56435900C>T ENST00000327381.5 + 3 1167 c.1067C>T c.(1066-1068)gCc>gTc p.A356V NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 356 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TACCAGAAGGCCCTCCGGGAC 0.572000 6 21 0 0 3.59834e-05 0 0 ADAM15 8751 broad.mit.edu 37 1 155026956 155026956 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:155026956C>T ENST00000356955.2 + 6 687 c.586C>T c.(586-588)Ccc>Tcc p.P196S ADAM15_ENST00000531455.1_Missense_Mutation_p.P206S|ADAM15_ENST00000359280.4_Missense_Mutation_p.P196S|ADAM15_ENST00000355956.2_Missense_Mutation_p.P196S|ADAM15_ENST00000449910.2_Missense_Mutation_p.P196S|ADAM15_ENST00000360674.4_Missense_Mutation_p.P196S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368412.3_Missense_Mutation_p.P196S|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000447332.3_Missense_Mutation_p.P180S|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000271836.6_Missense_Mutation_p.P196S NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 196 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) ACCAGAGCACCCCCTGGGACA 0.587000 9 99 0 0 0.00010058 0 0 GZMK 3003 broad.mit.edu 37 5 54326316 54326316 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr5:54326316G>A ENST00000231009.2 + 3 337 c.267G>A c.(265-267)aaG>aaA p.K89K CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 89 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CTCTCTCAAAGAATGAGGCCT 0.393000 14 48 0 0 0.000151284 0 0 SHANK2 22941 broad.mit.edu 37 11 70505998 70505998 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:70505998C>T ENST00000338508.4 - 23 1998 c.1999G>A c.(1999-2001)Gag>Aag p.E667K SHANK2_ENST00000409530.1_Missense_Mutation_p.E77K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E78K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E287K|SHANK2_ENST00000357171.3_Missense_Mutation_p.E78K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E77K|SHANK2_ENST00000449116.2_Missense_Mutation_p.E78K Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 287 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TCCACGGACTCCAGGTACTGT 0.557000 10 27 0 0 0.000151284 0 0 CFHR5 81494 broad.mit.edu 37 1 196953100 196953100 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:196953100C>T ENST00000367414.5 + 3 391 c.335C>T c.(334-336)tCc>tTc p.S112F CFHR5_ENST00000256785.4_Missense_Mutation_p.S88F NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 88 Sushi 2. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GGAATGTGTTCCTTTCCTTTT 0.308000 4 9 0 0 0.00024832 0 0 HN1L 90861 broad.mit.edu 37 16 1748899 1748899 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr16:1748899C>T ENST00000248098.3 + 5 530 c.473C>T c.(472-474)cCc>cTc p.P158L HN1L_ENST00000382711.5_Missense_Mutation_p.P142L|HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000562684.1_Missense_Mutation_p.P186L|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000382710.4_Missense_Mutation_p.P146L|HN1L_ENST00000569256.1_3'UTR NM_144570.2 NP_653171.1 Q9H910 HN1L_HUMAN hematological and neurological expressed 1-like 158 cytoplasm|nucleus endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1) 9 GAGCCCATGCCCACAGTCGAC 0.632000 23 92 0 0 0.000295444 0 0 TCP11L1 55346 broad.mit.edu 37 11 33065476 33065476 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr11:33065476C>T ENST00000334274.4 + 2 557 c.157C>T c.(157-159)Cct>Tct p.P53S TCP11L1_ENST00000530171.1_3'UTR|TCP11L1_ENST00000531632.2_Missense_Mutation_p.P53S|TCP11L1_ENST00000432887.1_Missense_Mutation_p.P53S NM_018393.3 NP_060863.3 Q9NUJ3 T11L1_HUMAN t-complex 11, testis-specific-like 1 53 kidney(1)|liver(2)|lung(2)|skin(1) 6 AGTGCAGAGACCTCACTGTAA 0.468000 27 64 0 0 0.000147802 0 0 LDB2 9079 broad.mit.edu 37 4 16510260 16510260 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr4:16510260G>A ENST00000502640.1 - 7 937 c.789C>T c.(787-789)tcC>tcT p.S263S LDB2_ENST00000515064.1_Silent_p.S263S|LDB2_ENST00000441778.2_Silent_p.S263S|LDB2_ENST00000304523.5_Silent_p.S263S|LDB2_ENST00000503178.2_Silent_p.S139S|RP11-446J8.1_ENST00000512370.1_RNA O43679 LDB2_HUMAN LIM domain binding 2 263 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TGCTGCTGGTGGAATTTTTCC 0.493000 6 16 0 0 3.59834e-05 0 0 NMBR 4829 broad.mit.edu 37 6 142409673 142409673 + Silent SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr6:142409673C>T ENST00000258042.1 - 1 263 c.123G>A c.(121-123)gtG>gtA p.V41V RP11-137J7.2_ENST00000454401.1_RNA NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 41 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CACAGCGGATCACCAACTCCG 0.607000 8 17 0 0 0.000274275 0 0 MCOLN2 255231 broad.mit.edu 37 1 85422148 85422149 + Frame_Shift_Ins INS - - T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr1:85422148_85422149insT ENST00000370608.3 - 4 597_598 c.530_531insA c.(529-531)agafs p.R177fs MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Frame_Shift_Ins_p.R149fs NM_153259.2 NP_694991.2 Q8IZK6 MCLN2_HUMAN mucolipin 2 177 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TCAGTGTCTCATTAGAAGGAAA 0.406 10 57 --- --- --- --- ANKRD36 375248 broad.mit.edu 37 2 97875580 97875580 + Frame_Shift_Del DEL A A - TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr2:97875580delA ENST00000420699.2 + 56 3582 c.3338delA c.(3337-3339)gafs p.E1113fs ANKRD36_ENST00000461153.2_Frame_Shift_Del_p.E1113fs NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 1113 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 ATAGCCAGAGAAAAAAAGGAT 0.323 2 4 --- --- --- --- STX1A 6804 broad.mit.edu 37 7 73123425 73123427 + In_Frame_Del DEL CAT CAT - TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr7:73123425_73123427delCAT ENST00000222812.3 - 2 82_84 c.56_58delATG c.(55-60)gtc>g p.DV19del STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 19 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GTGACAGCGACATCATCATCATC 0.586 8 218 --- --- --- --- ITIH5 80760 broad.mit.edu 37 10 7618686 7618686 + Frame_Shift_Del DEL T T - rs2275069 byFrequency TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr10:7618686delT ENST00000256861.6 - 10 1786 c.1708delA c.(1708-1710)ccfs p.T570fs ITIH5_ENST00000298441.6_Frame_Shift_Del_p.T356fs|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Frame_Shift_Del_p.T352fs|ITIH5_ENST00000397146.2_Frame_Shift_Del_p.T570fs|ITIH5_ENST00000397145.2_Frame_Shift_Del_p.T570fs NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 570 T -> P (in dbSNP:rs2275069). hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 ATGTGGTTGGTGTCCCCCTCT 0.587 10 38 --- --- --- --- EBF4 57593 broad.mit.edu 37 20 2686263 2686263 + Frame_Shift_Del DEL C C - TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx f5a4b392-e2d8-4304-b7ef-54b63abe42de 4ac68b56-9d2b-4a8d-a1c0-212cb1ee2f47 g.chr20:2686263delC ENST00000380648.4 + 3 434 c.166delC c.(166-168)ccfs p.P56fs EBF4_ENST00000342725.4_Frame_Shift_Del_p.P60fs NM_001110514.1 NP_001103984.1 Q9BQW3 COE4_HUMAN early B-cell factor 4 60 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding GAAGCAGCCTCCCTCCAACCT 0.587 2 4 --- --- --- ---