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 CT47B1 643311 broad.mit.edu 37 X 120008813 120008813 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:120008813C>G ENST00000371311.3 - 1 966 c.712G>C c.(712-714)Gag>Cag p.E238Q NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 238 p.K235_E243delKLTEEATEE(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 gtggcctcctctgtgagcttc 0.697000 55 41 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109275927 109275927 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:109275927G>T ENST00000370017.3 + 10 2190 c.1913G>T c.(1912-1914)aGg>aTg p.R638M FNDC7_ENST00000271311.2_Missense_Mutation_p.R639M NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 639 Fibronectin type-III 8. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) AAATTATATAGGCTGGGCCCT 0.478000 85 191 6.0678e-26 1.02796e-25 1 1 0 EPSTI1 94240 broad.mit.edu 37 13 43500532 43500532 + Silent SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr13:43500532T>A ENST00000313640.7 - 7 661 c.597A>T c.(595-597)acA>acT p.T199T EPSTI1_ENST00000398762.3_Silent_p.T199T|EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000313624.7_Silent_p.T199T NM_001002264.2 NP_001002264.1 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 (breast) 199 endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1) 17 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) CTGGCGATTCTGTGTTCAGTT 0.423000 66 155 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170058244 170058244 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:170058244G>A ENST00000263816.3 - 44 8631 c.8346C>T c.(8344-8346)gcC>gcT p.A2782A NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2782 LDL-receptor class A 18. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACTCCGTGGTGGCATTGCAGT 0.463000 21 68 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4015805 4015805 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr16:4015805T>A ENST00000294016.3 - 11 4571 c.4033A>T c.(4033-4035)Acc>Tcc p.T1345S NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1345 QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 TTGAGCTTGGTGAGTTCGTTG 0.507000 32 79 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45725760 45725760 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:45725760G>T ENST00000297323.7 + 13 2295 c.2273G>T c.(2272-2274)gGg>gTg p.G758V NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 758 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CTGCTCTCCGGGCTCACCACG 0.572000 36 83 3.76114e-14 5.50783e-14 1 1 0 ITGA8 8516 broad.mit.edu 37 10 15617547 15617547 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:15617547G>T ENST00000378076.3 - 24 2772 c.2419C>A c.(2419-2421)Cca>Aca p.P807T NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 807 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TCCTCTTCTGGTTCCCAGTTA 0.443000 27 69 9.78306e-22 1.61309e-21 1 1 0 BRD2 6046 broad.mit.edu 37 6 32944374 32944374 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr6:32944374C>T ENST00000395289.2 + 7 2462 c.861C>T c.(859-861)acC>acT p.T287T BRD2_ENST00000395287.1_Silent_p.T287T|BRD2_ENST00000374825.4_Silent_p.T287T|BRD2_ENST00000449085.2_Silent_p.T240T|BRD2_ENST00000443797.2_Silent_p.T167T|BRD2_ENST00000374831.4_Silent_p.T287T P25440 BRD2_HUMAN bromodomain containing 2 287 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 ATACTACCACCCCTACACCTA 0.527000 23 125 0 0 1 0 0 OSR2 116039 broad.mit.edu 37 8 99961674 99961674 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:99961674C>A ENST00000297565.4 + 2 990 c.494C>A c.(493-495)cCc>cAc p.P165H OSR2_ENST00000523368.1_Missense_Mutation_p.P165H|OSR2_ENST00000457907.2_Missense_Mutation_p.P286H|OSR2_ENST00000522510.1_Missense_Mutation_p.P165H|OSR2_ENST00000435298.2_Missense_Mutation_p.P165H NM_001142462.1 NP_001135934.1 Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 165 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) GGAAGGTTGCCCTCCAAAACG 0.517000 163 196 6.64659e-83 1.243e-82 1 1 0 DSC1 1823 broad.mit.edu 37 18 28719718 28719718 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr18:28719718C>A ENST00000257197.3 - 11 1917 c.1656G>T c.(1654-1656)gtG>gtT p.V552V DSC1_ENST00000257198.5_Silent_p.V552V|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 552 Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CACCTGCATCCACTGCAACAA 0.308000 15 39 2.23348e-06 2.57297e-06 1 1 0 PTPRO 5800 broad.mit.edu 37 12 15733670 15733670 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:15733670C>A ENST00000281171.4 + 22 3367 c.3037C>A c.(3037-3039)Cca>Aca p.P1013T PTPRO_ENST00000348962.2_Missense_Mutation_p.P985T|PTPRO_ENST00000544244.1_Missense_Mutation_p.P174T|PTPRO_ENST00000442921.2_Missense_Mutation_p.P202T|PTPRO_ENST00000542557.1_Missense_Mutation_p.P174T|PTPRO_ENST00000445537.2_Missense_Mutation_p.P202T NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 1013 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) CACCCAGGGGCCACTGCCTGA 0.453000 32 62 1.88708e-17 2.96444e-17 1 1 0 CCNB1 891 broad.mit.edu 37 5 68470846 68470846 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:68470846G>T ENST00000256442.5 + 6 1101 c.848G>T c.(847-849)aGa>aTa p.R283I NM_031966.3 NP_114172.1 P14635 CCNB1_HUMAN cyclin B1 283 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole large_intestine(2)|lung(5)|skin(1) 8 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) CACCAAATCAGACAGATGGAA 0.413000 63 157 3.37043e-27 5.8241e-27 1 1 0 VSIG4 11326 broad.mit.edu 37 X 65247911 65247911 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:65247911G>T ENST00000455586.2 - 4 864 c.738C>A c.(736-738)acC>acA p.T246T VSIG4_ENST00000412866.2_Silent_p.T152T|VSIG4_ENST00000374737.4_Silent_p.T246T NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 246 complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGTATGTCATGGTTGTAGGTG 0.453000 15 36 1.5739e-10 2.10503e-10 1 1 0 TSHZ3 57616 broad.mit.edu 37 19 31770157 31770157 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:31770157T>A ENST00000240587.4 - 2 869 c.542A>T c.(541-543)cAg>cTg p.Q181L NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 181 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CATGCGGCTCTGTGACACCTG 0.642000 10 46 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81610498 81610498 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr14:81610498G>T ENST00000541158.2 + 11 2418 c.2096G>T c.(2095-2097)tGt>tTt p.C699F TSHR_ENST00000298171.2_Missense_Mutation_p.C699F|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor 699 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TTTGGCATCTGTAAACGCCAG 0.498000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 51 135 2.14674e-31 3.8803e-31 1 1 0 EHD3 30845 broad.mit.edu 37 2 31489545 31489545 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:31489545C>A ENST00000322054.5 + 6 1868 c.1583C>A c.(1582-1584)cCg>cAg p.P528Q EHD3_ENST00000541626.1_3'UTR NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 528 EH. blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) CTCCTGCCCCCGTCCAAGAGG 0.602000 16 56 6.31663e-08 7.64365e-08 1 1 0 TSHR 7253 broad.mit.edu 37 14 81610577 81610577 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr14:81610577C>A ENST00000541158.2 + 11 2497 c.2175C>A c.(2173-2175)acC>acA p.T725T TSHR_ENST00000298171.2_Silent_p.T725T|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor 725 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) AAAAGGTTACCCACGAGATGA 0.483000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 37 100 3.33393e-15 5.05354e-15 1 1 0 FAM83G 644815 broad.mit.edu 37 17 18881947 18881947 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:18881947G>A ENST00000388995.6 - 5 1255 c.1032C>T c.(1030-1032)ctC>ctT p.L344L SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Silent_p.L344L|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Silent_p.L344L A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 344 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 TGGGGTTGACGAGCTTCTTGG 0.612000 32 101 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176903321 176903321 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:176903321G>T ENST00000367654.2 - 16 2675 c.2662C>A c.(2662-2664)Cga>Aga p.R888R ASTN1_ENST00000367657.3_Silent_p.R880R|ASTN1_ENST00000361833.2_Silent_p.R880R|ASTN1_ENST00000424564.2_Silent_p.R880R O14525 ASTN1_HUMAN astrotactin 1 888 cell migration|neuron cell-cell adhesion integral to membrane p.R880*(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGCCAGAGTCGCCGCTGGACC 0.502000 24 98 9.39395e-14 1.34823e-13 1 1 0 OR52R1 119695 broad.mit.edu 37 11 4825489 4825489 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:4825489G>T ENST00000380382.1 - 1 358 c.359C>A c.(358-360)gCt>gAt p.A120D OR52R1_ENST00000356069.2_Missense_Mutation_p.A41D|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCAACAACAGCCACAGCATA 0.512000 14 41 4.3838e-07 5.16022e-07 1 1 0 CALN1 83698 broad.mit.edu 37 7 71488747 71488747 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:71488747G>T ENST00000395275.2 - 5 784 c.396C>A c.(394-396)ggC>ggA p.G132G CALN1_ENST00000412588.1_Silent_p.G132G|CALN1_ENST00000395276.2_Silent_p.G90G|CALN1_ENST00000329008.5_Silent_p.G90G|CALN1_ENST00000431984.1_Silent_p.G90G|CALN1_ENST00000405452.2_Silent_p.G90G NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 90 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding p.G90G(1) biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) AATCCACCTGGCCATCCCCTG 0.448000 30 62 3.69857e-22 6.16904e-22 1 1 0 EFCAB2 84288 broad.mit.edu 37 1 245165487 245165487 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:245165487G>T ENST00000366522.2 + 2 527 c.386G>T c.(385-387)gGt>gTt p.G129V EFCAB2_ENST00000366523.1_Intron|EFCAB2_ENST00000447569.2_Intron|EFCAB2_ENST00000487845.1_Intron Q5VUJ9 EFCB2_HUMAN EF-hand calcium binding domain 2 129 calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2) 13 all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982) OV - Ovarian serous cystadenocarcinoma(106;0.015) ctaatggaagGTGGAAGAAGA 0.468000 7 21 0.0477658 0.0488976 1 1 0 FEZF1 389549 broad.mit.edu 37 7 121942156 121942156 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:121942156C>T ENST00000442488.2 - 4 1390 c.1323G>A c.(1321-1323)ccG>ccA p.P441P FEZF1_ENST00000331178.4_Silent_p.P437P|FEZF1_ENST00000427185.2_Silent_p.P391P NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 441 Pro-rich. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 gcgggggcggcggTTCAGTGC 0.706000 13 45 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216011440 216011440 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:216011440T>A ENST00000366943.2 - 47 9650 c.9264A>T c.(9262-9264)gaA>gaT p.E3088D USH2A_ENST00000307340.3_Missense_Mutation_p.E3088D O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3088 Fibronectin type-III 17. E -> K (in dbSNP:rs56056328). 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) TTGTGCAGACTTCAACCTGCA 0.383000 HNSCC(13;0.011) 82 162 0 0 1 0 0 ZNF75D 7626 broad.mit.edu 37 X 134427878 134427878 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:134427878C>T ENST00000370766.3 - 3 2898 c.189G>A c.(187-189)ccG>ccA p.P63P ZNF75D_ENST00000370764.1_Silent_p.P63P|ZNF75D_ENST00000494295.1_Intron NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 63 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 TAGTCTCAAGCGGTCCGGTTG 0.478000 4 57 0 0 1 0 0 PACS1 55690 broad.mit.edu 37 11 65838061 65838061 + Missense_Mutation SNP A A C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:65838061A>C ENST00000320580.4 + 1 137 c.104A>C c.(103-105)cAg>cCg p.Q35P NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 35 Gly-rich.|Poly-Gln. interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 ccgccgccgcagcagcagcag 0.796000 2 5 0 0 1 0 0 GFI1B 8328 broad.mit.edu 37 9 135865281 135865281 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:135865281C>A ENST00000339463.3 + 10 1620 c.801C>A c.(799-801)acC>acA p.T267T GFI1B_ENST00000372122.1_Silent_p.T267T|GFI1B_ENST00000372123.1_Silent_p.T221T|GFI1B_ENST00000450530.1_Silent_p.T267T|GFI1B_ENST00000534944.1_Silent_p.T221T|GFI1B_ENST00000372124.1_Silent_p.T221T Q5VTD9 GFI1B_HUMAN growth factor independent 1B transcription repressor 267 Interaction with ARIH2.|Mediates interaction with GATA1. cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05) AGAAGCACACCTACATCCACA 0.622000 11 30 2.80697e-09 3.57703e-09 1 1 0 FOXI2 399823 broad.mit.edu 37 10 129535892 129535892 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:129535892C>A ENST00000388920.4 + 1 394 c.355C>A c.(355-357)Ccg>Acg p.P119T NM_207426.2 NP_997309.2 Q6ZQN5 FOXI2_HUMAN forkhead box I2 119 epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|lung(3) 4 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) CCAGAGCGCGCCGCTGCGGAA 0.657000 4 4 0.00909568 0.00958374 1 1 0 LAMA4 3910 broad.mit.edu 37 6 112457369 112457369 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr6:112457369C>T ENST00000230538.7 - 25 3767 c.3370G>A c.(3370-3372)Gat>Aat p.D1124N LAMA4_ENST00000389463.4_Missense_Mutation_p.D1117N|LAMA4_ENST00000424408.2_Missense_Mutation_p.D1117N|LAMA4_ENST00000522006.1_Missense_Mutation_p.D1117N NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1124 Laminin G-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTTAACGTATCTTCAAGATGC 0.363000 22 63 0 0 1 0 0 TEKT4P2 100132288 broad.mit.edu 37 21 9907198 9907198 + RNA SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr21:9907198C>T ENST00000416067.1 - 0 1594 NR_037872.1|NR_038327.1 GTGCAGAAAGCTAACGCACTG 0.592000 4 15 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42328858 42328858 + Nonsense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:42328858G>A ENST00000262418.6 - 18 2565 c.2410C>T c.(2410-2412)Cag>Tag p.Q804* NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 804 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TCAAAGAGCTGGATGCCGCTG 0.587000 21 56 0 0 1 0 0 ENTPD2 954 broad.mit.edu 37 9 139943247 139943247 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:139943247G>A ENST00000355097.2 - 9 1397 c.1350C>T c.(1348-1350)gcC>gcT p.A450A ENTPD2_ENST00000460614.1_5'UTR|ENTPD2_ENST00000312665.5_Silent_p.A427A NM_001246.3|NM_203468.2 NP_001237.1|NP_982293.1 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 450 integral to membrane ATP binding endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3) 12 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCGGCGGGTCGGCGGGGATCA 0.701000 8 15 0 0 1 0 0 PAX5 5079 broad.mit.edu 37 9 36966649 36966649 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:36966649C>A ENST00000358127.4 - 6 751 c.677G>T c.(676-678)gGa>gTa p.G226V PAX5_ENST00000377852.2_Missense_Mutation_p.G226V|PAX5_ENST00000377853.2_Missense_Mutation_p.G226V|PAX5_ENST00000523241.1_Missense_Mutation_p.G226V|PAX5_ENST00000520154.1_Missense_Mutation_p.G226V|PAX5_ENST00000523145.1_Missense_Mutation_p.G118V|PAX5_ENST00000414447.1_Missense_Mutation_p.G183V|PAX5_ENST00000522003.1_Missense_Mutation_p.G118V|PAX5_ENST00000446742.1_Missense_Mutation_p.G160V|PAX5_ENST00000520281.1_Missense_Mutation_p.G183V|PAX5_ENST00000377847.2_Missense_Mutation_p.G226V NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 226 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(41) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GAACAAGTCTCCCCGCATCTG 0.592000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 8 35 5.18039e-06 5.93615e-06 1 1 0 WDR91 29062 broad.mit.edu 37 7 134879799 134879799 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:134879799C>G ENST00000354475.4 - 9 1313 c.1282G>C c.(1282-1284)Gta>Cta p.V428L WDR91_ENST00000344400.5_Missense_Mutation_p.V428L|WDR91_ENST00000423565.1_Missense_Mutation_p.V393L NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 428 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 ACCCCATCTACGTCTAAGCTG 0.532000 10 31 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857952 9857952 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr16:9857952G>T ENST00000396573.2 - 14 3758 c.3449C>A c.(3448-3450)cCc>cAc p.P1150H GRIN2A_ENST00000562109.1_Missense_Mutation_p.P1150H|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1150H|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P1150H|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1150H|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P993H NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1150 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATCCTGGTAGGGGTCCGGGAA 0.532000 50 154 3.86361e-14 5.63878e-14 1 1 0 MCM10 55388 broad.mit.edu 37 10 13240794 13240794 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:13240794G>T ENST00000378694.1 + 15 2300 c.2225G>T c.(2224-2226)gGc>gTc p.G742V MCM10_ENST00000484800.2_Missense_Mutation_p.G743V|MCM10_ENST00000378714.3_Missense_Mutation_p.G742V Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 743 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AAACACACAGGCATCCTGAAA 0.433000 26 55 1.17739e-12 1.66765e-12 1 1 0 C5orf54 63920 broad.mit.edu 37 5 159821978 159821978 + Missense_Mutation SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:159821978T>C ENST00000408953.3 - 2 1027 c.520A>G c.(520-522)Att>Gtt p.I174V C5orf54_ENST00000523213.1_Missense_Mutation_p.I174V NM_022090.3 NP_071373.2 Q8IZ13 CE054_HUMAN chromosome 5 open reading frame 54 174 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 12 gcaagctgaatacccacttta 0.393000 37 110 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530238 140530238 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:140530238G>A ENST00000231136.1 + 1 400 c.400G>A c.(400-402)Gcc>Acc p.A134T PCDHB6_ENST00000543635.1_5'UTR NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 134 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) GGAATTCCCTGCCAGAGAAAT 0.453000 55 126 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 64062051 64062051 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:64062051G>T ENST00000324472.4 - 1 306 c.123C>A c.(121-123)gcC>gcA p.A41A RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 41 A -> V (in dbSNP:rs10878074). multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) CGCCGCCTAGGGCCGACTTTT 0.657000 23 53 6.44725e-10 8.46569e-10 1 1 0 ITM2A 9452 broad.mit.edu 37 X 78618125 78618125 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:78618125T>A ENST00000434584.2 - 3 709 c.373A>T c.(373-375)Att>Ttt p.I125F ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Missense_Mutation_p.I169F NM_001171581.1 NP_001165052.1 O43736 ITM2A_HUMAN integral membrane protein 2A 169 integral to membrane protein binding breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 18 GGCATAACAATAGAAGTATTG 0.398000 28 25 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182339892 182339892 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:182339892G>T ENST00000397033.2 + 4 863 c.433G>T c.(433-435)Ggg>Tgg p.G145W ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.G145W NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 145 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TCAGACTTGTGGGCATAGATG 0.403000 28 76 2.65835e-16 4.07236e-16 1 1 0 ZNF208 7757 broad.mit.edu 37 19 22155820 22155820 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:22155820T>A ENST00000397126.4 - 4 2164 c.2016A>T c.(2014-2016)aaA>aaT p.K672N ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TACTAAAGGCTTTGCCACATT 0.383000 25 80 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16638359 16638359 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:16638359G>T ENST00000443444.2 + 12 2914 c.2774G>T c.(2773-2775)cGt>cTt p.R925L CCDC144A_ENST00000456009.1_Missense_Mutation_p.R645L|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.R925L|CCDC144A_ENST00000399273.1_Missense_Mutation_p.R925L|CCDC144A_ENST00000360524.8_Missense_Mutation_p.R925L A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 925 GCTGCTGTACGTGACTGTGAT 0.388000 14 33 4.36969e-10 5.7728e-10 1 1 0 SERPINA4 5267 broad.mit.edu 37 14 95030231 95030231 + Missense_Mutation SNP C C G rs140563422 byFrequency TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr14:95030231C>G ENST00000557004.1 + 2 833 c.412C>G c.(412-414)Cgc>Ggc p.R138G SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R138G|SERPINA4_ENST00000298841.5_Missense_Mutation_p.R138G P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 138 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.R138G(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GCTGGAAACACGCGTGGGCAG 0.562000 33 94 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3677976 3677976 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:3677976C>A ENST00000294600.2 + 5 927 c.843C>A c.(841-843)tcC>tcA p.S281S NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 281 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) AAGAGACATCCATGTCCCCAG 0.567000 9 44 0.000151284 0.00016844 1 1 0 LAMB4 22798 broad.mit.edu 37 7 107704342 107704342 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:107704342G>T ENST00000388781.3 - 22 3008 c.2925C>A c.(2923-2925)aaC>aaA p.N975K LAMB4_ENST00000205386.4_Missense_Mutation_p.N975K|LAMB4_ENST00000388780.3_Missense_Mutation_p.N975K NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 975 Laminin EGF-like 10. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TTACATCTATGTTGTTGTTGC 0.498000 43 89 1.68508e-10 2.24678e-10 1 1 0 HCFC2 29915 broad.mit.edu 37 12 104458365 104458365 + Nonsense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:104458365G>A ENST00000229330.4 + 1 131 c.27G>A c.(25-27)tgG>tgA p.W9* NM_013320.2 NP_037452.1 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 9 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTCAACTGGAGGCGAGTTT 0.692000 5 5 0 0 1 0 0 GOLGA6L2 283685 broad.mit.edu 37 15 23690510 23690510 + Missense_Mutation SNP T T G rs3866720 by1000genomes TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr15:23690510T>G ENST00000567107.1 - 2 212 c.160A>C c.(160-162)Aat>Cat p.N54H GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.N54H|GOLGA6L2_ENST00000345070.5_5'UTR golgin A6 family-like 2 breast(1)|endometrium(7) 8 TTAGTGCCATTATTTATTTTC 0.498000 2 18 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67101698 67101698 + Splice_Site SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:67101698G>T ENST00000371037.4 + 4 248 c.171_splice c.e4+1 p.S57_splice SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Intron NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 57 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 AAAAAGTTTCGGTAAGGAAAC 0.358000 25 54 2.44723e-14 3.59593e-14 1 1 0 CHD7 55636 broad.mit.edu 37 8 61757938 61757938 + Missense_Mutation SNP A A G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:61757938A>G ENST00000423902.2 + 23 5659 c.5180A>G c.(5179-5181)tAc>tGc p.Y1727C CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1727 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GAGGACAGCTACAAGAAACAC 0.498000 22 29 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45609897 45609897 + Silent SNP A A T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr14:45609897A>T ENST00000267430.5 + 3 829 c.744A>T c.(742-744)ccA>ccT p.P248P FANCM_ENST00000556036.1_Silent_p.P248P|FANCM_ENST00000542564.2_Intron NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 248 Helicase ATP-binding. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GTGCCACACCAGGTAGTGATA 0.328000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 32 112 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38993320 38993320 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:38993320C>T ENST00000355481.4 + 48 7919 c.7788C>T c.(7786-7788)acC>acT p.T2596T RYR1_ENST00000360985.3_Silent_p.T2596T|RYR1_ENST00000359596.3_Silent_p.T2596T NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2596 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTTCGCTCACCAAGGCGCAGC 0.667000 4 54 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46288438 46288438 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr13:46288438G>T ENST00000378966.3 + 2 1586 c.1170G>T c.(1168-1170)atG>atT p.M390I SPERT_ENST00000310521.1_Missense_Mutation_p.M426I Q8NA61 SPERT_HUMAN spermatid associated 426 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) GCATGGAAATGCTCATCGAGG 0.612000 12 17 9.31168e-06 1.05859e-05 1 1 0 OR2L8 391190 broad.mit.edu 37 1 248112558 248112558 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:248112558C>A ENST00000357191.3 + 1 399 c.399C>A c.(397-399)atC>atA p.I133I OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ACTATCTCATCCGCATGAGCA 0.433000 77 377 8.16569e-41 1.50751e-40 1 1 0 OR6B2 389090 broad.mit.edu 37 2 240969238 240969238 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:240969238G>T ENST00000402971.2 - 1 668 c.609C>A c.(607-609)gcC>gcA p.A203A NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) GGATGATGAAGGCCAGGATGA 0.577000 8 37 0.00307968 0.00330129 1 1 0 OR10T2 128360 broad.mit.edu 37 1 158368636 158368636 + Silent SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:158368636T>A ENST00000334438.1 - 1 620 c.621A>T c.(619-621)gtA>gtT p.V207V NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) GCACCATAATTACCAGGATGC 0.453000 30 78 0 0 1 0 0 MT1JP 4498 broad.mit.edu 37 16 56669689 56669689 + RNA SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr16:56669689C>T ENST00000564564.1 + 0 15 TGCGGTCTCTCCATTTATCGC 0.627000 23 55 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102826059 102826059 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:102826059C>A ENST00000260302.3 - 2 312 c.284G>T c.(283-285)aGa>aTa p.R95I MMP13_ENST00000340273.4_Missense_Mutation_p.R95I NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 95 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) AACCCCGCATCTTGGCTTTTT 0.428000 44 144 1.7489e-18 2.77767e-18 1 1 0 MLLT6 4302 broad.mit.edu 37 17 36881059 36881059 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:36881059G>T ENST00000325718.7 + 19 3161 c.3070G>T c.(3070-3072)Gct>Tct p.A1024S NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 1024 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) CCTGCTGCCCGCTGGAGCCCT 0.677000 T MLL AL 4 5 0.150653 0.152775 1 1 0 RYR3 6263 broad.mit.edu 37 15 33895499 33895499 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr15:33895499T>A ENST00000389232.4 + 18 2168 c.2098T>A c.(2098-2100)Tgg>Agg p.W700R RYR3_ENST00000415757.3_Missense_Mutation_p.W700R NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 700 B30.2/SPRY 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGGAGAAGGATGGGGAGGCAA 0.552000 79 204 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717340 142717340 + Nonsense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:142717340C>A ENST00000381779.4 - 2 1810 c.1585G>T c.(1585-1587)Gag>Tag p.E529* SLITRK4_ENST00000356928.1_Nonsense_Mutation_p.E529*|SLITRK4_ENST00000338017.4_Nonsense_Mutation_p.E529* NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 529 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) GGGTTGCCCTCCAAGTCAATC 0.478000 89 48 2.56433e-40 4.71399e-40 1 1 0 PTPRT 11122 broad.mit.edu 37 20 41101199 41101199 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr20:41101199G>T ENST00000373198.3 - 8 1392 c.1157C>A c.(1156-1158)cCg>cAg p.P386Q PTPRT_ENST00000373201.1_Missense_Mutation_p.P386Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.P386Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.P386Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.P386Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.P386Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.P386Q NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 386 Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCCATGTACCGGATCTGCAAA 0.557000 11 30 4.3838e-07 5.16022e-07 1 1 0 NLRP4 147945 broad.mit.edu 37 19 56379120 56379120 + Silent SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:56379120T>A ENST00000301295.6 + 6 2654 c.2232T>A c.(2230-2232)gcT>gcA p.A744A NLRP4_ENST00000587891.1_Silent_p.A669A|NLRP4_ENST00000346986.5_Intron NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 744 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AAGTCCTTGCTGGCCTTCTAA 0.483000 35 103 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10935338 10935338 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr6:10935338C>A ENST00000283141.6 + 21 2027 c.1731C>A c.(1729-1731)aaC>aaA p.N577K NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 577 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) AGCAAAATAACACCACATCTC 0.323000 37 44 3.62531e-18 5.71581e-18 1 1 0 MS4A10 341116 broad.mit.edu 37 11 60563027 60563027 + Splice_Site SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:60563027G>T ENST00000308287.1 + 6 588 c.e6-1 NM_206893.3 NP_996776.2 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 10 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 TACCCTCTCAGGTCCACATCC 0.622000 6 19 5.9392e-07 6.9721e-07 1 1 0 SLC38A8 146167 broad.mit.edu 37 16 84056378 84056378 + Splice_Site SNP A A T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr16:84056378A>T ENST00000299709.3 - 6 805 c.e6+1 NM_001080442.1 NP_001073911.1 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 GAAGGGCCTTACCCGTCAGTG 0.572000 11 24 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224463163 224463163 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:224463163C>G ENST00000305409.2 - 2 1070 c.838G>C c.(838-840)Gat>Cat p.D280H NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 280 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TTCATCTCATCGTTGATTTGT 0.433000 41 225 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55816205 55816205 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:55816205G>T ENST00000309383.1 + 14 1911 c.1634G>T c.(1633-1635)gGg>gTg p.G545V BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000590333.1_Missense_Mutation_p.G561V|BRSK1_ENST00000326848.7_Missense_Mutation_p.G240V NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 545 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GGTGGCGTCGGGGGAGCCGCC 0.701000 8 13 5.4927e-09 6.87782e-09 1 1 0 HNRNPU 3192 broad.mit.edu 37 1 245027246 245027246 + Nonsense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:245027246C>A ENST00000444376.2 - 1 598 c.364G>T c.(364-366)Gag>Tag p.E122* HNRNPU_ENST00000283179.9_Nonsense_Mutation_p.E122* NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 122 Asp/Glu-rich (acidic). CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TCCTCCTCCTCCATCGGGCCC 0.667000 5 36 0.0293803 0.0302198 1 1 0 LMO7 4008 broad.mit.edu 37 13 76432135 76432135 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr13:76432135C>T ENST00000357063.3 + 31 6259 c.4999C>T c.(4999-5001)Cat>Tat p.H1667Y LMO7_ENST00000605961.1_3'UTR|LMO7_ENST00000377534.3_3'UTR|LMO7_ENST00000465261.2_Missense_Mutation_p.H1382Y|LMO7_ENST00000341547.4_3'UTR|LMO7_ENST00000526202.1_3'UTR|LMO7_ENST00000321797.8_3'UTR Q8WWI1 LMO7_HUMAN LIM domain 7 0 LIM zinc-binding. cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) GGTTGCTGCTCATGTAGATCT 0.378000 21 66 0 0 1 0 0 IFI44L 10964 broad.mit.edu 37 1 79093672 79093672 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:79093672G>T ENST00000370751.4 + 2 251 c.72G>T c.(70-72)ttG>ttT p.L24F IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 24 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 ATGTTTCTTTGAGTCTTCTCT 0.363000 27 56 2.65835e-16 4.07236e-16 1 1 0 SPATA31D4 389761 broad.mit.edu 37 9 84549025 84549025 + RNA SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:84549025C>A ENST00000585776.1 - 0 1039 SPATA31D4_ENST00000341875.4_RNA CCTTTAAGACCCAATGGAGGA 0.517000 5 11 0.014758 0.0153996 1 1 0 GRM8 2918 broad.mit.edu 37 7 126882809 126882809 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:126882809G>T ENST00000339582.2 - 2 1258 c.450C>A c.(448-450)gtC>gtA p.V150V GRM8_ENST00000358373.3_Silent_p.V150V|GRM8_ENST00000405249.1_Silent_p.V150V|GRM8_ENST00000444921.2_Silent_p.V150V O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 150 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CAGCACCTATGACGCCAGAAA 0.433000 HNSCC(24;0.065) 42 96 1.57019e-19 2.52165e-19 1 1 0 KCNT1 57582 broad.mit.edu 37 9 138678207 138678207 + Silent SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:138678207G>C ENST00000298480.5 + 29 3416 c.3342G>C c.(3340-3342)cgG>cgC p.R1114R KCNT1_ENST00000486577.2_Silent_p.R1071R|KCNT1_ENST00000490355.2_Silent_p.R1092R|KCNT1_ENST00000371757.2_Silent_p.R1114R|KCNT1_ENST00000487664.1_Silent_p.R1069R|KCNT1_ENST00000491806.2_Silent_p.R1079R|KCNT1_ENST00000488444.2_Silent_p.R1093R|KCNT1_ENST00000263604.3_Silent_p.R1088R B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 1114 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) AGTGGGCCCGGAGGCTGAGCC 0.761000 3 4 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181546975 181546975 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:181546975C>A ENST00000526775.1 + 4 751 c.586C>A c.(586-588)Cgg>Agg p.R196R CACNA1E_ENST00000358338.5_Silent_p.R147R|CACNA1E_ENST00000367570.1_Silent_p.R196R|CACNA1E_ENST00000357570.5_Silent_p.R147R|CACNA1E_ENST00000360108.3_Silent_p.R196R|CACNA1E_ENST00000367573.2_Silent_p.R196R|CACNA1E_ENST00000367567.4_5'UTR NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 196 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 GCGTGTCCTGCGGCCTTTGAA 0.542000 4 22 0.00909568 0.00958374 1 1 0 FOXI2 399823 broad.mit.edu 37 10 129535891 129535891 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:129535891G>A ENST00000388920.4 + 1 393 c.354G>A c.(352-354)gcG>gcA p.A118A NM_207426.2 NP_997309.2 Q6ZQN5 FOXI2_HUMAN forkhead box I2 118 epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|lung(3) 4 all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222) TCCAGAGCGCGCCGCTGCGGA 0.657000 4 4 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 32902814 32902814 + Nonsense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr14:32902814G>T ENST00000280979.4 + 2 285 c.115G>T c.(115-117)Gga>Tga p.G39* AKAP6_ENST00000557272.1_Nonsense_Mutation_p.G39*|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Nonsense_Mutation_p.G39* NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 39 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GCAGGGTGAGGGAGAAGAGGC 0.552000 27 45 3.28513e-13 4.69925e-13 1 1 0 KCNJ12 3768 broad.mit.edu 37 17 21319319 21319319 + Missense_Mutation SNP A A T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:21319319A>T ENST00000583088.1 + 3 1560 c.665A>T c.(664-666)cAc>cTc p.H222L KCNJ12_ENST00000331718.5_Missense_Mutation_p.H222L NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) CGCAAGAGCCACATTGTGGAG 0.642000 Prostate(3;0.18) 13 54 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65145388 65145388 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:65145388C>T ENST00000371073.2 + 24 3355 c.3355C>T c.(3355-3357)Cac>Tac p.H1119Y CACHD1_ENST00000290039.5_Missense_Mutation_p.H1068Y|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 1119 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TGCCTACCGCCACCAGATTCA 0.557000 26 53 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224463340 224463340 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:224463340C>T ENST00000305409.2 - 2 893 c.661G>A c.(661-663)Gag>Aag p.E221K NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 221 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TTTTGCTCCTCATCCATCCTC 0.443000 52 179 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657960 72657960 + RNA SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:72657960C>A ENST00000425256.1 - 0 1951 NR_002164.1 atgaaggagtcgatttcttcc 0.507000 32 80 5.71845e-15 8.60756e-15 1 1 0 PIK3AP1 118788 broad.mit.edu 37 10 98386627 98386627 + Nonsense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:98386627G>A ENST00000339364.5 - 10 1626 c.1507C>T c.(1507-1509)Cag>Tag p.Q503* PIK3AP1_ENST00000371109.3_Nonsense_Mutation_p.Q102*|PIK3AP1_ENST00000371110.2_Nonsense_Mutation_p.Q325* NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 503 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) AGATGGCACTGATCTCTCTCC 0.517000 18 128 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211476985 211476985 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:211476985C>T ENST00000233072.5 + 20 2732 c.2536C>T c.(2536-2538)Cca>Tca p.P846S CPS1_ENST00000451903.2_Missense_Mutation_p.P395S|CPS1_ENST00000430249.2_Missense_Mutation_p.P852S NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 846 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GTTGTCTGAACCAAGCAGCAC 0.438000 54 154 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20808037 20808037 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:20808037G>T ENST00000601440.1 - 4 792 c.646C>A c.(646-648)Ctt>Att p.L216I CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TGTCTAGTAAGGCTACAAGAG 0.388000 34 90 8.53417e-09 1.05941e-08 1 1 0 ROR2 4920 broad.mit.edu 37 9 94488832 94488832 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:94488832C>A ENST00000375708.3 - 8 1575 c.1377G>T c.(1375-1377)caG>caT p.Q459H ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.Q319H NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 459 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CCTGTTTGTGCTGGTTAATGA 0.517000 24 62 4.7796e-09 6.03739e-09 1 1 0 SLC9A2 6549 broad.mit.edu 37 2 103281574 103281574 + Missense_Mutation SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:103281574T>C ENST00000233969.2 + 3 911 c.769T>C c.(769-771)Ttc>Ctc p.F257L NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 257 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GTACAACTTGTTCAAGTCGTT 0.453000 86 188 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50850488 50850488 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:50850488G>T ENST00000404971.1 - 7 2536 c.1197C>A c.(1195-1197)gcC>gcA p.A399A NRXN1_ENST00000406859.3_Silent_p.A366A|NRXN1_ENST00000402717.3_Silent_p.A366A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.A366A|NRXN1_ENST00000405472.3_Silent_p.A366A|NRXN1_ENST00000401669.2_Silent_p.A366A NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 366 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CATCATGCCAGGCATTATCAT 0.463000 20 45 3.51602e-12 4.89974e-12 1 1 0 KEL 3792 broad.mit.edu 37 7 142638446 142638446 + Missense_Mutation SNP G G T rs1042015 TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:142638446G>T ENST00000355265.2 - 19 2566 c.2092C>A c.(2092-2094)Cac>Aac p.H698N NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 698 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) ACTCGGAGGTGTGGAGGGCTG 0.622000 36 64 1.59361e-14 2.36577e-14 1 1 0 POLD2 5425 broad.mit.edu 37 7 44154539 44154539 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:44154539C>T ENST00000406581.2 - 12 1904 c.1255G>A c.(1255-1257)Gag>Aag p.E419K POLD2_ENST00000223361.3_Missense_Mutation_p.E405K|POLD2_ENST00000452185.1_Missense_Mutation_p.E419K NM_001256879.1 NP_001243808.1 P49005 DPOD2_HUMAN polymerase (DNA directed), delta 2, accessory subunit 419 base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 12 GTCTGGTCCTCAGGACCTGCA 0.557000 5 21 0 0 1 0 0 HDAC7 51564 broad.mit.edu 37 12 48189064 48189064 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:48189064C>A ENST00000080059.7 - 11 1186 c.1187G>T c.(1186-1188)cGc>cTc p.R396L HDAC7_ENST00000427332.2_Missense_Mutation_p.R357L|HDAC7_ENST00000552960.1_Missense_Mutation_p.R379L|HDAC7_ENST00000354334.3_Missense_Mutation_p.R359L|HDAC7_ENST00000380610.4_Missense_Mutation_p.R413L NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 357 Transcription repression 2 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) GGGCTCTGAGCGAGTCCGGCT 0.682000 25 57 9.57634e-11 1.28878e-10 1 1 0 SPATA31C1 441452 broad.mit.edu 37 9 90534071 90534071 + RNA SNP A A G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:90534071A>G ENST00000602681.1 + 0 817 CTCCCTGAGCAAGACAGACAG 0.562000 5 12 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13902233 13902233 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:13902233C>A ENST00000265104.4 - 13 1763 c.1659G>T c.(1657-1659)aaG>aaT p.K553N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 553 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CATCCATGAACTTCCGCAACT 0.308000 Kartagener syndrome 5 23 0.000602214 0.000660296 1 1 0 CLCA4 22802 broad.mit.edu 37 1 87045091 87045091 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:87045091C>A ENST00000370563.3 + 13 2219 c.2177C>A c.(2176-2178)aCc>aAc p.T726N RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 726 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) ACTCAGACCACCTTGGAGGAT 0.463000 23 69 5.35356e-11 7.27276e-11 1 1 0 GCNT4 51301 broad.mit.edu 37 5 74324736 74324736 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:74324736C>G ENST00000322348.4 - 1 1988 c.1127G>C c.(1126-1128)gGc>gCc p.G376A NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 376 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) ATAGAAAAAGCCTTCATAGTA 0.453000 19 60 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175676257 175676257 + Missense_Mutation SNP T T G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:175676257T>G ENST00000409900.3 - 10 1259 c.946A>C c.(946-948)Aag>Cag p.K316Q CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.K132Q|CHN1_ENST00000409156.3_Missense_Mutation_p.K290Q|CHN1_ENST00000295497.7_Missense_Mutation_p.K191Q NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 316 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) AAAGCCATCTTGACATCTTCA 0.323000 T TAF15 extraskeletal myxoid chondrosarcoma 10 17 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664639 22664639 + RNA SNP G G A rs9306349 by1000genomes TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr22:22664639G>A ENST00000426066.1 + 0 820 NR_027293.1 CCAGCCTTCTGTAACCCAGTA 0.428000 5 69 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76282203 76282203 + Nonsense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:76282203G>T ENST00000263187.3 + 6 1065 c.961G>T c.(961-963)Gaa>Taa p.E321* NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 321 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 CCAAAACCTTGAATTGTTAAT 0.274000 Mismatch excision repair (MMR) 17 44 1.02788e-11 1.4278e-11 1 1 0 DSCAML1 57453 broad.mit.edu 37 11 117299329 117299329 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:117299329C>A ENST00000321322.6 - 33 6058 c.6057G>T c.(6055-6057)ggG>ggT p.G2019G DSCAML1_ENST00000527706.1_Silent_p.G1749G NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1959 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 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) CAGCGGGGGCCCCTGGGTGGG 0.721000 4 9 0.184627 0.185486 1 1 0 TMLHE 55217 broad.mit.edu 37 X 154754267 154754267 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:154754267G>C ENST00000334398.3 - 3 353 c.208C>G c.(208-210)Cgc>Ggc p.R70G TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.R70G NM_018196.3 NP_060666.1 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 70 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) TAATCAAAGCGCATCACGGTA 0.428000 45 43 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14589180 14589180 + Nonsense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:14589180C>T ENST00000544627.1 + 4 2130 c.1810C>T c.(1810-1812)Caa>Taa p.Q604* ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.Q595*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.Q595*|ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.Q596*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.Q596*|ATF7IP_ENST00000541654.1_3'UTR Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 596 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 CCAGAAACTTCAAAAGGTATT 0.318000 34 131 0 0 1 0 0 CLCA4 22802 broad.mit.edu 37 1 87045092 87045092 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:87045092C>A ENST00000370563.3 + 13 2220 c.2178C>A c.(2176-2178)acC>acA p.T726T RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 726 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CTCAGACCACCTTGGAGGATT 0.468000 23 67 1.10923e-09 1.4477e-09 1 1 0 FBXO4 26272 broad.mit.edu 37 5 41939543 41939543 + Splice_Site SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:41939543G>T ENST00000281623.3 + 6 955 c.898_splice c.e6-1 p.R300_splice FBXO4_ENST00000509134.1_Intron NM_012176.2 NP_036308.1 Q9UKT5 FBX4_HUMAN F-box protein 4 300 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) CATTCCTTAGGACATGAATGG 0.318000 45 157 2.65591e-33 4.82081e-33 1 1 0 LIPJ 142910 broad.mit.edu 37 10 90353863 90353863 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:90353863G>C ENST00000371939.3 + 5 605 c.291G>C c.(289-291)ttG>ttC p.L97F NM_001010939.2 NP_001010939.2 Q5W064 LIPJ_HUMAN lipase, family member J 97 lipid catabolic process hydrolase activity large_intestine(4)|lung(4)|ovary(1) 9 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) GGAAACACTTGTACCTAGAAA 0.373000 20 66 0 0 1 0 0 CLN5 1203 broad.mit.edu 37 13 77570219 77570219 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr13:77570219C>T ENST00000377453.3 + 3 1961 c.669C>T c.(667-669)caC>caT p.H223H CLN5_ENST00000485938.1_3'UTR NM_006493.2 NP_006484.1 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 174 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) ATGATGTTCACTGGAAGGAAA 0.393000 60 177 0 0 1 0 0 CACNB1 782 broad.mit.edu 37 17 37343119 37343119 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:37343119G>A ENST00000394303.3 - 5 685 c.478C>T c.(478-480)Ccc>Tcc p.P160S CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000344140.5_Missense_Mutation_p.P160S|CACNB1_ENST00000394310.3_Missense_Mutation_p.P160S NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 160 SH3. axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) ACGGGGCTGGGAATGAAGCCA 0.587000 20 53 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59108330 59108330 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr14:59108330G>A ENST00000395153.3 + 3 646 c.499G>A c.(499-501)Ggg>Agg p.G167R DACT1_ENST00000335867.4_Missense_Mutation_p.G167R|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000541264.2_5'UTR|DACT1_ENST00000395151.3_Intron|DACT1_ENST00000556859.1_5'UTR NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 167 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GCTGAGTGATGGGGCTTCAGG 0.423000 49 121 0 0 1 0 0 RRP1B 23076 broad.mit.edu 37 21 45094950 45094950 + Missense_Mutation SNP A A T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr21:45094950A>T ENST00000340648.4 + 6 572 c.455A>T c.(454-456)gAg>gTg p.E152V NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 152 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) CTGATGAAGGAGGTCCTGTGT 0.473000 72 167 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120844793 120844793 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:120844793G>C ENST00000263713.5 + 11 1064 c.850G>C c.(850-852)Gtg>Ctg p.V284L EPB41L5_ENST00000331393.4_Missense_Mutation_p.V284L|EPB41L5_ENST00000443124.1_Missense_Mutation_p.V284L|EPB41L5_ENST00000452780.1_Missense_Mutation_p.V284L|EPB41L5_ENST00000443902.2_Missense_Mutation_p.V284L NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 284 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 ATTAACCTTGGTGGTTGTAGA 0.289000 24 68 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7701122 7701122 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:7701122G>T ENST00000572933.1 + 53 9665 c.8205G>T c.(8203-8205)gtG>gtT p.V2735V DNAH2_ENST00000389173.2_Silent_p.V2735V Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2735 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGCAGCTAGTGCTCTTCCGAG 0.512000 53 92 2.40265e-35 4.37951e-35 1 1 0 KEAP1 9817 broad.mit.edu 37 19 10600428 10600428 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:10600428C>A ENST00000171111.5 - 4 1974 c.1427G>T c.(1426-1428)gGg>gTg p.G476V KEAP1_ENST00000393623.2_Missense_Mutation_p.G476V NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 476 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GTCAAAGCCCCCCACGGCATA 0.567000 21 27 3.8784e-16 5.89954e-16 1 1 0 COIL 8161 broad.mit.edu 37 17 55027940 55027940 + Silent SNP A A C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:55027940A>C ENST00000240316.4 - 2 697 c.663T>G c.(661-663)ggT>ggG p.G221G NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 221 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) TTCTAGCAGAACCTTTTGGAG 0.428000 39 106 0 0 1 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50988042 50988042 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr22:50988042C>A ENST00000395676.2 + 1 1581 c.1447C>A c.(1447-1449)Cgg>Agg p.R483R NM_138433.3 NP_612442.2 Q96G42 KLD7B_HUMAN kelch domain containing 7B 483 central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGCCAGCCACCGGCGTTCCAG 0.657000 21 72 3.01185e-09 3.82682e-09 1 1 0 NAV3 89795 broad.mit.edu 37 12 78515820 78515820 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:78515820C>A ENST00000397909.2 + 16 4023 c.3850C>A c.(3850-3852)Cgg>Agg p.R1284R NAV3_ENST00000228327.6_Silent_p.R1284R|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Silent_p.R1284R Q8IVL0 NAV3_HUMAN neuron navigator 3 1284 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CACATTAGCGCGGCAAGGCAG 0.567000 HNSCC(70;0.22) 16 36 1.5739e-10 2.10503e-10 1 1 0 SEL1L 6400 broad.mit.edu 37 14 81964777 81964777 + Missense_Mutation SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr14:81964777T>C ENST00000336735.4 - 9 1069 c.953A>G c.(952-954)tAt>tGt p.Y318C NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 318 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) AACAAGACGATAGTGAGTCAG 0.393000 20 65 0 0 1 0 0 TMEM169 92691 broad.mit.edu 37 2 216960741 216960741 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:216960741G>T ENST00000454545.1 + 3 381 c.55G>T c.(55-57)Ggc>Tgc p.G19C TMEM169_ENST00000406027.2_Missense_Mutation_p.G19C|TMEM169_ENST00000437356.2_Missense_Mutation_p.G19C|TMEM169_ENST00000295658.4_Missense_Mutation_p.G19C NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 19 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCCCACCAGGGCTCTCTCAG 0.542000 19 66 3.32936e-07 3.9405e-07 1 1 0 DMD 1756 broad.mit.edu 37 X 31986631 31986631 + Splice_Site SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:31986631C>G ENST00000357033.4 - 45 6645 c.6438_splice c.e45-1 p.E2147_splice DMD_ENST00000378677.2_Splice_Site_p.E2143_splice|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2147 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCCTGGAGTTCCTGTAAGATA 0.403000 18 18 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88726682 88726682 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr15:88726682C>A ENST00000394480.1 - 5 683 c.362G>T c.(361-363)aGa>aTa p.R121I NTRK3_ENST00000540489.2_Missense_Mutation_p.R121I|NTRK3_ENST00000360948.2_Missense_Mutation_p.R121I|NTRK3_ENST00000357724.2_Missense_Mutation_p.R121I|NTRK3_ENST00000558676.1_Missense_Mutation_p.R121I|NTRK3_ENST00000317501.3_Missense_Mutation_p.R121I|NTRK3_ENST00000542733.2_Missense_Mutation_p.R23I|NTRK3_ENST00000355254.2_Missense_Mutation_p.R121I|NTRK3_ENST00000557856.1_Missense_Mutation_p.R121I NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 121 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GGCAAAGGCTCTGGGCTGAAT 0.542000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 38 96 3.76604e-16 5.74886e-16 1 1 0 WSCD2 9671 broad.mit.edu 37 12 108604049 108604049 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:108604049C>A ENST00000332082.4 + 5 1467 c.649C>A c.(649-651)Cgg>Agg p.R217R WSCD2_ENST00000547525.1_Silent_p.R217R|WSCD2_ENST00000549903.1_Silent_p.R217R|WSCD2_ENST00000261400.3_Silent_p.R217R Q2TBF2 WSCD2_HUMAN WSC domain containing 2 217 WSC 1. integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CTCTGTCTACCGGCTGCAGCT 0.672000 3 12 0.00024832 0.000274359 1 1 0 BUB1 699 broad.mit.edu 37 2 111395737 111395737 + Splice_Site SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:111395737C>T ENST00000535254.1 - 24 3070 c.e24-1 BUB1_ENST00000302759.6_Splice_Site|BUB1_ENST00000409311.1_Splice_Site NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) ATGAGGAAGCCTGAAAAAGAC 0.378000 4 19 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48347244 48347244 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:48347244G>T ENST00000319856.4 + 1 773 c.752G>T c.(751-753)aGg>aTg p.R251M NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TACTCCTTGAGGTCCCACAGT 0.488000 9 113 5.16669e-11 7.04104e-11 1 1 0 OR2M2 391194 broad.mit.edu 37 1 248343361 248343361 + Missense_Mutation SNP C C A rs146796261 TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:248343361C>A ENST00000359682.2 + 1 74 c.74C>A c.(73-75)aCg>aAg p.T25K NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCACCACACACGTTCCTCTTC 0.498000 94 486 2.56585e-57 4.77778e-57 1 1 0 PDZD2 23037 broad.mit.edu 37 5 32087673 32087673 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:32087673C>T ENST00000438447.1 + 20 4507 c.4119C>T c.(4117-4119)tcC>tcT p.S1373S PDZD2_ENST00000282493.3_Silent_p.S1373S O15018 PDZD2_HUMAN PDZ domain containing 2 1373 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CTGAAAGCTCCCAGGAGCCTT 0.577000 3 22 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48416571 48416571 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:48416571C>A ENST00000249598.1 - 1 282 c.123G>T c.(121-123)ctG>ctT p.L41L NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 41 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 CAGGCACCCCCAGTGGGCTGT 0.637000 12 28 1.08611e-07 1.31061e-07 1 1 0 NEK10 152110 broad.mit.edu 37 3 27346453 27346453 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr3:27346453C>T ENST00000429845.2 - 13 1175 c.813G>A c.(811-813)gcG>gcA p.A271A NEK10_ENST00000341435.5_Silent_p.A271A Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 271 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GCAGCAACTCCGCTGTTAGTC 0.493000 6 16 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23906879 23906879 + Silent SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr13:23906879T>A ENST00000382298.3 - 10 11724 c.11136A>T c.(11134-11136)acA>acT p.T3712T SACS_ENST00000402364.1_Silent_p.T2962T|SACS_ENST00000382292.3_Silent_p.T3712T NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3712 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGCTTAAGGGTGTAGCTTTCT 0.393000 38 106 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62729780 62729780 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr20:62729780G>T ENST00000349451.3 + 6 1153 c.741G>T c.(739-741)ctG>ctT p.L247L OPRL1_ENST00000336866.2_Silent_p.L247L|OPRL1_ENST00000355631.4_Silent_p.L247L NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 247 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GAGTCCGCCTGCTCTCGGGCT 0.627000 28 95 7.38237e-10 9.66419e-10 1 1 0 MORC1 27136 broad.mit.edu 37 3 108836879 108836879 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr3:108836879G>T ENST00000232603.5 - 1 110 c.28C>A c.(28-30)Cgg>Agg p.R10R MORC1_ENST00000483760.1_Silent_p.R10R NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 10 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AGCTGGGCCCGCTGAAGCGCA 0.662000 3 11 0.004672 0.00494682 1 1 0 TMOD1 7111 broad.mit.edu 37 9 100326390 100326390 + Silent SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:100326390G>C ENST00000395211.2 + 6 694 c.558G>C c.(556-558)acG>acC p.T186T TMOD1_ENST00000259365.3_Silent_p.T186T|TMOD1_ENST00000375175.1_Silent_p.T59T NM_001166116.1 NP_001159588.1 P28289 TMOD1_HUMAN tropomodulin 1 186 muscle filament sliding cytosol actin binding p.T186T(1) breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) TAGAGGAAACGCTGGAACGGA 0.463000 11 21 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102337206 102337206 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:102337206G>A ENST00000395065.3 - 9 968 c.867C>T c.(865-867)ttC>ttT p.F289F NXF3_ENST00000425463.2_Silent_p.F200F|NXF3_ENST00000425644.1_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 289 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 AGGTATCCGAGAAGGTCGTGC 0.547000 75 64 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15215662 15215662 + Nonsense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:15215662G>A ENST00000395930.1 - 7 1201 c.1015C>T c.(1015-1017)Caa>Taa p.Q339* TEKT3_ENST00000338696.2_Nonsense_Mutation_p.Q339* NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 339 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TTGTTGAATTGATTCCACATC 0.448000 25 113 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53014175 53014175 + Nonsense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:53014175G>T ENST00000421239.2 + 6 785 c.541G>T c.(541-543)Gag>Tag p.E181* NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TAATCAAGTGGAGAAGTCTGT 0.373000 66 154 4.13886e-29 7.23882e-29 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766737 77766737 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:77766737C>A ENST00000521891.2 + 10 8028 c.7580C>A c.(7579-7581)cCg>cAg p.P2527Q ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2482Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2501Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2482Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2482 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTTCACTCTCCGTTCTTGGAA 0.507000 HNSCC(33;0.089) 42 188 4.01765e-15 6.06862e-15 1 1 0 SMYD2 56950 broad.mit.edu 37 1 214488167 214488167 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:214488167G>T ENST00000366957.5 + 3 322 c.300G>T c.(298-300)tgG>tgT p.W100C SMYD2_ENST00000415093.2_Missense_Mutation_p.W100C|SMYD2_ENST00000491455.1_3'UTR NM_020197.2 NP_064582.2 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 100 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) GGGAAAACTGGAATCCCTCGG 0.383000 20 105 1.85244e-09 2.41041e-09 1 1 0 MT4 84560 broad.mit.edu 37 16 56602768 56602768 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr16:56602768G>T ENST00000219162.3 + 3 193 c.113G>T c.(112-114)tGc>tTc p.C38F NM_032935.2 NP_116324.1 P47944 MT4_HUMAN metallothionein 4 38 cytoplasm copper ion binding|zinc ion binding ovary(1)|upper_aerodigestive_tract(1) 2 TGTCCCTGCTGCCCCCCGGGC 0.602000 56 158 1.31171e-36 2.40109e-36 1 1 0 NCKAP5L 57701 broad.mit.edu 37 12 50190889 50190889 + Nonsense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:50190889C>A ENST00000335999.6 - 8 955 c.754G>T c.(754-756)Gga>Tga p.G252* NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 248 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 AGCAGGCCTCCCAGGTTGCCA 0.716000 5 7 0.184627 0.185486 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40367780 40367780 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:40367780C>A ENST00000221347.6 - 29 13187 c.13180G>T c.(13180-13182)Ggt>Tgt p.G4394C NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4394 TIL 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AACACGAAACCCGCGTCGCAC 0.657000 16 33 3.70931e-20 5.97919e-20 1 1 0 SARDH 1757 broad.mit.edu 37 9 136596590 136596590 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:136596590C>T ENST00000371872.4 - 4 784 c.527G>A c.(526-528)gGt>gAt p.G176D SARDH_ENST00000422262.2_Missense_Mutation_p.G8D|SARDH_ENST00000298628.5_Missense_Mutation_p.G176D|SARDH_ENST00000371867.1_Missense_Mutation_p.G87D|SARDH_ENST00000439388.1_Missense_Mutation_p.G176D NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 176 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GGATTCCACACCATACGCCTT 0.632000 12 48 0 0 1 0 0 WDR1 9948 broad.mit.edu 37 4 10079461 10079461 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:10079461C>A ENST00000382452.2 - 13 1767 c.1485G>T c.(1483-1485)gtG>gtT p.V495V WDR1_ENST00000382451.2_Silent_p.V355V|WDR1_ENST00000499869.2_Silent_p.V495V|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Silent_p.V355V NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 495 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) GGGAGTAGGCCACGTCGGTCA 0.667000 6 9 0.0293803 0.0302198 1 1 0 METTL10 399818 broad.mit.edu 37 10 126477722 126477722 + Nonsense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:126477722C>A ENST00000368836.2 - 3 217 c.181G>T c.(181-183)Gga>Tga p.G61* RP11-12J10.3_ENST00000494792.1_Missense_Mutation_p.L25F NM_212554.2 NP_997719.2 Q5JPI9 MTL10_HUMAN methyltransferase like 10 61 methyltransferase activity endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 5 all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111) CTCTCTTCTCCAAACCTGTTA 0.378000 12 68 6.40141e-05 7.16427e-05 1 1 0 MED16 10025 broad.mit.edu 37 19 885978 885978 + Missense_Mutation SNP C C T rs137978287 TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:885978C>T ENST00000312090.6 - 5 821 c.671G>A c.(670-672)gGc>gAc p.G224D MED16_ENST00000325464.1_Missense_Mutation_p.G224D|MED16_ENST00000269814.4_Missense_Mutation_p.G224D|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Missense_Mutation_p.G224D|MED16_ENST00000589119.1_Missense_Mutation_p.G224D Q9Y2X0 MED16_HUMAN mediator complex subunit 16 224 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACGATGTTGCCGCCGCCGGT 0.701000 19 23 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28387460 28387460 + Missense_Mutation SNP C C A rs143615465 by1000genomes TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr15:28387460C>A ENST00000261609.7 - 76 11732 c.11624G>T c.(11623-11625)cGg>cTg p.R3875L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3875 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCAGTACCTCCGGAACCAGGC 0.532000 19 35 4.96729e-08 6.02772e-08 1 1 0 TCAIM 285343 broad.mit.edu 37 3 44408980 44408980 + Missense_Mutation SNP A A G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr3:44408980A>G ENST00000342649.4 + 5 779 c.352A>G c.(352-354)Aga>Gga p.R118G TCAIM_ENST00000417237.1_Missense_Mutation_p.R118G NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial TTTGCACACCAGAGATCTGCT 0.333000 30 85 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51561239 51561239 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr14:51561239C>T ENST00000298355.3 - 1 1540 c.419G>A c.(418-420)cGg>cAg p.R140Q TRIM9_ENST00000338969.5_Missense_Mutation_p.R140Q|TRIM9_ENST00000360392.4_Missense_Mutation_p.R140Q NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 140 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) GCGGAGCCCCCGGTCATCCAG 0.667000 11 13 0 0 1 0 0 ZNF134 7693 broad.mit.edu 37 19 58131812 58131812 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:58131812G>T ENST00000396161.5 + 3 635 c.325G>T c.(325-327)Gat>Tat p.D109Y ZNF134_ENST00000597975.1_3'UTR NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 109 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CTTAAGAAGGGATAAAAGTGA 0.448000 21 61 2.4624e-09 3.15654e-09 1 1 0 RYR2 6262 broad.mit.edu 37 1 237660050 237660050 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:237660050C>T ENST00000366574.2 + 20 2518 c.2201C>T c.(2200-2202)tCa>tTa p.S734L RYR2_ENST00000542537.1_Missense_Mutation_p.S718L|RYR2_ENST00000360064.6_Missense_Mutation_p.S732L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 734 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATCTCTGGTCAGGTACGTAC 0.468000 88 219 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109687433 109687433 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:109687433G>A ENST00000277225.5 + 3 1529 c.1240G>A c.(1240-1242)Gag>Aag p.E414K ZNF462_ENST00000457913.1_Missense_Mutation_p.E414K Q96JM2 ZN462_HUMAN zinc finger protein 462 414 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CCTGTCTGCAGAGCAGCTGAT 0.433000 37 99 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51561238 51561238 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr14:51561238C>A ENST00000298355.3 - 1 1541 c.420G>T c.(418-420)cgG>cgT p.R140R TRIM9_ENST00000338969.5_Silent_p.R140R|TRIM9_ENST00000360392.4_Silent_p.R140R NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 140 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) CGCGGAGCCCCCGGTCATCCA 0.667000 10 13 0.000673444 0.000736526 1 1 0 OR2T4 127074 broad.mit.edu 37 1 248524936 248524936 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:248524936G>A ENST00000366475.1 + 1 54 c.54G>A c.(52-54)ctG>ctA p.L18L NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATTTCATCCTGATGGGACTCT 0.488000 18 84 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46916243 46916243 + Silent SNP G G A rs141108617 TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:46916243G>A ENST00000378623.1 - 12 1679 c.1437C>T c.(1435-1437)cgC>cgT p.R479R NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 479 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) AGACAAGCTCGCGGCGGTGGT 0.587000 21 46 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49585780 49585780 + Splice_Site SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr6:49585780C>A ENST00000371175.4 - 3 519 c.e3+1 RHAG_ENST00000229810.7_Splice_Site NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) CTAACTCTTACCTTAAATATT 0.383000 23 29 2.21704e-12 3.10961e-12 1 1 0 ZNF730 100129543 broad.mit.edu 37 19 23329335 23329335 + Missense_Mutation SNP A A T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:23329335A>T ENST00000597761.2 + 4 1688 c.1489A>T c.(1489-1491)Agg>Tgg p.R497W NM_001277403.1 NP_001264332.1 zinc finger protein 730 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1) 16 ACACCTTACTAGGCATAAGAC 0.338000 7 20 0 0 1 0 0 PIGN 23556 broad.mit.edu 37 18 59756056 59756056 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr18:59756056G>C ENST00000357637.5 - 25 2718 c.2303C>G c.(2302-2304)tCt>tGt p.S768C PIGN_ENST00000400334.3_Missense_Mutation_p.S768C NM_176787.4 NP_789744.1 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, class N 768 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) AGTATTATAAGAGAACTGGAT 0.353000 3 3 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17559430 17559430 + Silent SNP C C T rs142341928 TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:17559430C>T ENST00000375471.4 + 11 1370 c.1278C>T c.(1276-1278)ccC>ccT p.P426P NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 426 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) CGGAATACCCCCTGGGCCGGA 0.672000 5 16 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19656543 19656543 + Silent SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:19656543T>C ENST00000586018.1 + 8 3309 c.3207T>C c.(3205-3207)acT>acC p.T1069T CILP2_ENST00000291495.4_Silent_p.T1063T Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 1063 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 GCGTCTACACTGTCACTGACC 0.637000 7 21 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53568929 53568929 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:53568929C>T ENST00000025008.5 - 15 3983 c.3460G>A c.(3460-3462)Gaa>Aaa p.E1154K RB1CC1_ENST00000435644.2_Missense_Mutation_p.E1154K|RB1CC1_ENST00000539297.1_Missense_Mutation_p.E1154K|RB1CC1_ENST00000521611.1_Intron NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 1154 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TTGTTTAATTCAGCTTTAAGT 0.294000 10 63 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281831 152281831 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:152281831C>A ENST00000368799.1 - 3 5566 c.5531G>T c.(5530-5532)aGc>aTc p.S1844I FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1844 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGGTGTGGCTGTGATGAGA 0.542000 Ichthyosis 165 771 6.26973e-84 1.17762e-83 1 1 0 TJP2 9414 broad.mit.edu 37 9 71851089 71851089 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:71851089G>A ENST00000377245.4 + 13 2134 c.1926G>A c.(1924-1926)ctG>ctA p.L642L TJP2_ENST00000265384.7_Silent_p.L642L|TJP2_ENST00000539225.1_Silent_p.L673L|TJP2_ENST00000348208.4_Silent_p.L642L|TJP2_ENST00000535702.1_Silent_p.L646L|TJP2_ENST00000453658.2_Silent_p.L619L NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 642 SH3. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 ACGGCAAGCTGGGCAACTGGC 0.507000 32 82 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35743657 35743657 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr20:35743657C>A ENST00000400441.3 - 19 2453 c.2454G>T c.(2452-2454)caG>caT p.Q818H MROH8_ENST00000217333.8_Missense_Mutation_p.Q647H|MROH8_ENST00000441008.2_Missense_Mutation_p.Q804H maestro heat-like repeat family member 8 GCAGGAGTATCTGGATGGCTG 0.468000 73 165 2.10328e-26 3.59138e-26 1 1 0 OR5H1 26341 broad.mit.edu 37 3 97852052 97852052 + Missense_Mutation SNP T T G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr3:97852052T>G ENST00000354565.2 + 1 511 c.511T>G c.(511-513)Tcc>Gcc p.S171A RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 CTTCTGTAACTCCAACATAGT 0.338000 14 75 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25919606 25919606 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:25919606C>A ENST00000398988.3 + 10 1287 c.842C>A c.(841-843)gCa>gAa p.A281E KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000319524.6_Missense_Mutation_p.A418E|KSR1_ENST00000268763.6_Missense_Mutation_p.A281E|KSR1_ENST00000509603.2_Missense_Mutation_p.A418E NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 416 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GTGGACAGAGCAGCCGAACCC 0.552000 8 30 5.4927e-09 6.87782e-09 1 1 0 KIAA1958 158405 broad.mit.edu 37 9 115337246 115337246 + Missense_Mutation SNP C C T rs61910738 byFrequency TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:115337246C>T ENST00000337530.6 + 2 1182 c.886C>T c.(886-888)Ccc>Tcc p.P296S KIAA1958_ENST00000536272.1_Missense_Mutation_p.P296S|KIAA1958_ENST00000374244.3_Missense_Mutation_p.P296S NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 296 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 AAACAGAGGACCCCCTGGTAC 0.537000 87 244 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766841 77766841 + Nonsense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:77766841C>T ENST00000521891.2 + 10 8132 c.7684C>T c.(7684-7686)Cag>Tag p.Q2562* ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q2517*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q2536*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q2517* NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2517 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AATGCCCCCTCAGGCCAGTTC 0.498000 HNSCC(33;0.089) 22 87 0 0 1 0 0 INPP5A 3632 broad.mit.edu 37 10 134591206 134591206 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:134591206G>A ENST00000368594.3 + 13 1286 c.1009G>A c.(1009-1011)Gag>Aag p.E337K INPP5A_ENST00000368593.3_Missense_Mutation_p.E337K NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 337 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) CCGCCAGGGTGAGCAGTACAT 0.672000 13 56 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109687463 109687463 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:109687463T>A ENST00000277225.5 + 3 1559 c.1270T>A c.(1270-1272)Tta>Ata p.L424I ZNF462_ENST00000457913.1_Missense_Mutation_p.L424I Q96JM2 ZN462_HUMAN zinc finger protein 462 424 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TGGCAACAAATTATTGGAGAC 0.453000 44 83 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88126413 88126413 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr6:88126413G>T ENST00000507897.1 + 6 582 c.499G>T c.(499-501)Gca>Tca p.A167S C6ORF165_ENST00000369562.4_Missense_Mutation_p.A167S Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 167 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TTTTCCTCAGGCAGAGCTTGG 0.338000 9 29 1.76689e-08 2.16846e-08 1 1 0 TSHB 7252 broad.mit.edu 37 1 115576762 115576762 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:115576762G>C ENST00000256592.1 + 3 399 c.331G>C c.(331-333)Gac>Cac p.D111H TSHB_ENST00000369517.1_Missense_Mutation_p.D111H NM_000549.3|NM_001277991.1 NP_000540.2|NP_001264920.1 P01222 TSHB_HUMAN thyroid stimulating hormone, beta 111 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) GTGCAATACTGACTATAGTGA 0.398000 76 180 0 0 1 0 0 ST3GAL1 6482 broad.mit.edu 37 8 134488118 134488118 + Silent SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:134488118C>G ENST00000319914.5 - 4 1177 c.150G>C c.(148-150)ctG>ctC p.L50L ST3GAL1_ENST00000399640.2_Silent_p.L50L|ST3GAL1_ENST00000522652.1_Silent_p.L50L|ST3GAL1_ENST00000521180.1_Silent_p.L50L Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 50 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) TCAGTCTCTTCAGGTTCTCGG 0.577000 17 66 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79029306 79029306 + Missense_Mutation SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:79029306T>C ENST00000446378.2 + 2 4749 c.4718T>C c.(4717-4719)tTg>tCg p.L1573S NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1573 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TCTCCTGAGTTGGAAAATTTA 0.423000 68 163 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138377866 138377866 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:138377866G>T ENST00000356818.2 + 4 2059 c.1510G>T c.(1510-1512)Ggg>Tgg p.G504W PPP1R26_ENST00000605660.1_Missense_Mutation_p.G504W|PPP1R26_ENST00000605286.1_Missense_Mutation_p.G504W|PPP1R26_ENST00000604351.1_Missense_Mutation_p.G504W|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.G504W NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 504 nucleolus protein binding GGGCAGTGACGGGTCCCTGTC 0.622000 14 42 4.93089e-13 7.03018e-13 1 1 0 MEGF6 1953 broad.mit.edu 37 1 3416172 3416172 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:3416172C>T ENST00000356575.4 - 23 3171 c.2945G>A c.(2944-2946)cGg>cAg p.R982Q MEGF6_ENST00000294599.4_Missense_Mutation_p.R877Q NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 982 EGF-like 17. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCGGGGGCCCCGGCGGCCAGC 0.697000 2 4 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54314284 54314284 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:54314284G>C ENST00000324134.6 - 3 797 c.629C>G c.(628-630)cCg>cGg p.P210R NLRP12_ENST00000535162.1_Missense_Mutation_p.P210R|NLRP12_ENST00000354278.3_Missense_Mutation_p.P210R|NLRP12_ENST00000351894.4_Missense_Mutation_p.P210R|NLRP12_ENST00000345770.5_Missense_Mutation_p.P210R|NLRP12_ENST00000391772.1_Missense_Mutation_p.P210R|NLRP12_ENST00000391775.3_Missense_Mutation_p.P210R|NLRP12_ENST00000391773.1_Missense_Mutation_p.P210R NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 210 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.P210R(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CACGGTGCGCGGTGGCTCGGG 0.647000 26 71 0 0 1 0 0 COX20 116228 broad.mit.edu 37 1 245005304 245005304 + Missense_Mutation SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:245005304T>C ENST00000411948.2 + 2 494 c.101T>C c.(100-102)aTa>aCa p.I34T COX20_ENST00000498262.1_3'UTR|COX20_ENST00000366528.3_Missense_Mutation_p.I46T NM_198076.4 NP_932342.1 Q5RI15 FA36A_HUMAN COX20 cytochrome C oxidase assembly factor 34 integral to membrane CGGCATTCAATATTGTATGGT 0.343000 21 104 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184290625 184290625 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr3:184290625C>T ENST00000330394.2 + 3 969 c.517C>T c.(517-519)Cgt>Tgt p.R173C EIF2B5_ENST00000444495.1_Intron NM_004443.3 NP_004434.2 P54753 EPHB3_HUMAN EPH receptor B3 173 integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GGATGCCGGCCGTGTCAACAC 0.622000 23 47 0 0 1 0 0 CSN3 1448 broad.mit.edu 37 4 71115171 71115171 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:71115171G>T ENST00000304954.3 + 4 630 c.544G>T c.(544-546)Gca>Tca p.A182S NM_005212.2 NP_005203.2 P07498 CASK_HUMAN casein kappa 182 extracellular region protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 TCCACCTACGGCATAAAAACA 0.413000 13 31 8.60227e-14 1.24287e-13 1 1 0 CUBN 8029 broad.mit.edu 37 10 17110718 17110718 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:17110718T>A ENST00000377833.4 - 20 2742 c.2677A>T c.(2677-2679)Aca>Tca p.T893S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 893 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGTATGTCTGTACCGCAATAC 0.313000 44 132 0 0 1 0 0 PLA2G2D 26279 broad.mit.edu 37 1 20440644 20440644 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:20440644C>A ENST00000375105.3 - 4 459 c.401G>T c.(400-402)tGg>tTg p.W134L NM_012400.2 NP_036532.1 Q9UNK4 PA2GD_HUMAN phospholipase A2, group IID 134 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(1)|lung(2) 3 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GTGGGGCCGCCAGTAGAAACG 0.612000 Multiple Myeloma(11;0.12) 11 28 2.80697e-09 3.57703e-09 1 1 0 CSMD1 64478 broad.mit.edu 37 8 2807848 2807848 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:2807848C>T ENST00000602557.1 - 68 10777 c.10222G>A c.(10222-10224)Gag>Aag p.E3408K CSMD1_ENST00000542608.1_Missense_Mutation_p.E3230K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E3407K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E3231K|CSMD1_ENST00000520002.1_Missense_Mutation_p.E3408K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E3231K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3408 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAGTGGGCCTCCTCCTTCTTG 0.398000 101 136 0 0 1 0 0 ORC4 5000 broad.mit.edu 37 2 148731062 148731062 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:148731062C>A ENST00000535373.1 - 4 521 c.89G>T c.(88-90)cGt>cTt p.R30L ORC4_ENST00000392857.4_Missense_Mutation_p.R30L|ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000540442.1_5'UTR|ORC4_ENST00000536575.1_Intron|ORC4_ENST00000264169.2_Missense_Mutation_p.R30L|ORC4_ENST00000392858.1_Missense_Mutation_p.R30L NM_001190879.2 NP_001177808.1 O43929 ORC4_HUMAN origin recognition complex, subunit 4 30 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 14 TGGACTCTGACGACAAAATCT 0.318000 24 101 7.76418e-22 1.28511e-21 1 1 0 REPIN1 29803 broad.mit.edu 37 7 150069332 150069332 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:150069332C>A ENST00000397281.2 + 4 1491 c.1002C>A c.(1000-1002)gcC>gcA p.A334A RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Silent_p.A391A|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000425389.2_Silent_p.A334A|REPIN1_ENST00000444957.1_Silent_p.A334A|REPIN1_ENST00000540729.1_Silent_p.A334A NM_013400.3 NP_037532.2 Q9BWE0 REPI1_HUMAN replication initiator 1 334 Pro-rich. DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) AGCTGCCAGCCGGCCCCCAGG 0.746000 3 4 1 1 1 1 0 USP4 7375 broad.mit.edu 37 3 49362339 49362339 + Silent SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr3:49362339T>C ENST00000351842.4 - 5 629 c.621A>G c.(619-621)ctA>ctG p.L207L USP4_ENST00000415188.1_Silent_p.L207L|USP4_ENST00000416417.1_Silent_p.L207L|USP4_ENST00000265560.4_Silent_p.L207L NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 207 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GACCCTGGTATAGCCCAGCAT 0.547000 43 135 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111430530 111430530 + Missense_Mutation SNP T T G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:111430530T>G ENST00000428084.1 - 31 3570 c.3298A>C c.(3298-3300)Agt>Cgt p.S1100R DOCK4_ENST00000437633.1_Missense_Mutation_p.S1100R Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1100 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) AAGTTGCCACTCCGCCTCTGC 0.473000 10 47 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30432982 30432982 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr20:30432982C>A ENST00000375978.3 - 1 438 c.364G>T c.(364-366)Ggc>Tgc p.G122C NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 122 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 CCCCGGGTGCCCTCAGCACCT 0.706000 8 11 0.00448238 0.00478121 1 1 0 CDH18 1016 broad.mit.edu 37 5 19503128 19503128 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:19503128G>T ENST00000507958.1 - 13 2593 c.1603C>A c.(1603-1605)Cca>Aca p.P535T CDH18_ENST00000506372.1_Missense_Mutation_p.P535T|CDH18_ENST00000511273.1_Missense_Mutation_p.P535T|CDH18_ENST00000502796.1_Missense_Mutation_p.P535T|CDH18_ENST00000274170.4_Missense_Mutation_p.P535T|CDH18_ENST00000382275.1_Missense_Mutation_p.P535T Q13634 CAD18_HUMAN cadherin 18, type 2 535 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GTGAAGTTTGGATTTACAGGC 0.348000 20 63 2.4624e-09 3.15654e-09 1 1 0 TMEM169 92691 broad.mit.edu 37 2 216960740 216960740 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:216960740G>T ENST00000454545.1 + 3 380 c.54G>T c.(52-54)caG>caT p.Q18H TMEM169_ENST00000406027.2_Missense_Mutation_p.Q18H|TMEM169_ENST00000437356.2_Missense_Mutation_p.Q18H|TMEM169_ENST00000295658.4_Missense_Mutation_p.Q18H NM_001142310.1 NP_001135782.1 Q96HH4 TM169_HUMAN transmembrane protein 169 18 integral to membrane breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2) 13 Renal(323;0.0651) Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCCCCACCAGGGCTCTCTCA 0.542000 19 67 3.32936e-07 3.9405e-07 1 1 0 ITLN1 55600 broad.mit.edu 37 1 160851995 160851995 + Splice_Site SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:160851995C>A ENST00000326245.3 - 4 273 c.e4-1 NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TACAGGCCATCTGTAGAGAGA 0.557000 43 77 1.35964e-18 2.17542e-18 1 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766829 77766829 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:77766829C>G ENST00000521891.2 + 10 8120 c.7672C>G c.(7672-7674)Caa>Gaa p.Q2558E ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2513E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2532E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2513E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2513 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTCCCTCACTCAAATGCCCCC 0.507000 HNSCC(33;0.089) 25 91 0 0 1 0 0 LOC647323 647323 broad.mit.edu 37 3 193711948 193711948 + RNA SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr3:193711948C>A ENST00000397645.2 - 0 75 RP11-699L21.2_ENST00000426616.1_lincRNA NR_033944.1 ACACTTCCCTCATCAACTACT 0.413000 7 36 8.12818e-05 9.07332e-05 1 1 0 KIAA1586 57691 broad.mit.edu 37 6 56919043 56919043 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr6:56919043C>G ENST00000370733.4 + 4 1953 c.1746C>G c.(1744-1746)atC>atG p.I582M KIAA1586_ENST00000545356.1_Missense_Mutation_p.I555M NM_020931.2 NP_065982.1 Q9HCI6 K1586_HUMAN KIAA1586 582 nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AAGATTTGATCAAGTCAGATA 0.269000 8 71 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102819820 102819820 + Nonsense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:102819820C>A ENST00000260302.3 - 7 1013 c.985G>T c.(985-987)Gaa>Taa p.E329* MMP13_ENST00000340273.4_Nonsense_Mutation_p.E329* NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 329 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TTGGGAAGTTCTGGCCAAAAT 0.453000 26 91 9.39395e-14 1.34823e-13 1 1 0 OR2T34 127068 broad.mit.edu 37 1 248737693 248737693 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:248737693G>T ENST00000328782.2 - 1 387 c.366C>A c.(364-366)gcC>gcA p.A122A NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 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;0.0265) CATAGGCCATGGCAGCCAGGA 0.567000 17 83 1.22574e-08 1.51725e-08 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8471007 8471007 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:8471007C>T ENST00000381196.4 - 28 4035 c.3492G>A c.(3490-3492)atG>atA p.M1164I PTPRD_ENST00000397617.3_Missense_Mutation_p.M743I|PTPRD_ENST00000540109.1_Missense_Mutation_p.M1164I|PTPRD_ENST00000355233.5_Missense_Mutation_p.M753I|PTPRD_ENST00000358503.5_Missense_Mutation_p.M1142I|PTPRD_ENST00000360074.4_Missense_Mutation_p.M1151I|PTPRD_ENST00000537002.1_Missense_Mutation_p.M750I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M1164I|PTPRD_ENST00000397611.3_Missense_Mutation_p.M750I|PTPRD_ENST00000397606.3_Missense_Mutation_p.M743I|PTPRD_ENST00000486161.1_Missense_Mutation_p.M753I NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1164 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity 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) CATCTAATTCCATTTCATCTG 0.413000 TSP Lung(15;0.13) 53 114 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99092233 99092233 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr13:99092233G>A ENST00000376586.2 + 23 2881 c.2545G>A c.(2545-2547)Gag>Aag p.E849K FARP1_ENST00000319562.6_Missense_Mutation_p.E818K|FARP1_ENST00000595437.1_Missense_Mutation_p.E849K Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 818 PH 1. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GAGCGAAGACGAGTGGGGGGT 0.622000 62 236 0 0 1 0 0 ALKBH2 121642 broad.mit.edu 37 12 109527870 109527870 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:109527870G>C ENST00000429722.2 - 3 786 c.423C>G c.(421-423)atC>atG p.I141M ALKBH2_ENST00000440112.2_Intron|ALKBH2_ENST00000343075.3_Missense_Mutation_p.I141M NM_001145374.1 NP_001138846.1 Q6NS38 ALKB2_HUMAN alkB, alkylation repair homolog 2 (E. coli) 141 DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(3)|large_intestine(1)|lung(3) 8 Vitamin C(DB00126) CGTGATCCCGGATGCGCTCTA 0.537000 Direct reversal of damage 12 87 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69283123 69283123 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:69283123T>A ENST00000338352.2 + 1 783 c.749T>A c.(748-750)gTc>gAc p.V250D NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 250 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 GAGGAGTACGTCAAGAAGCCG 0.662000 12 19 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93579 93579 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:93579C>A ENST00000447903.2 - 4 852 c.537G>T c.(535-537)cgG>cgT p.R179R TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Silent_p.R251R|TUBB8_ENST00000332708.5_3'UTR Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 251 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CGGCCAGCTTCCGCAGGTCAG 0.637000 17 43 1.55795e-14 2.3208e-14 1 1 0 ZNF860 344787 broad.mit.edu 37 3 32030690 32030690 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr3:32030690G>T ENST00000360311.4 + 2 668 c.119G>T c.(118-120)tGc>tTc p.C40F NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 GAGTGGAAATGCCTGGACCCT 0.478000 22 106 1.28384e-07 1.5449e-07 1 1 0 PHB 5245 broad.mit.edu 37 17 47482453 47482453 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:47482453C>G ENST00000300408.3 - 7 792 c.720G>C c.(718-720)aaG>aaC p.K240N PHB_ENST00000511832.1_Intron|RP11-1079K10.4_ENST00000506504.3_RNA|RP11-81K2.1_ENST00000576461.1_Intron NM_002634.2 NP_002625.1 P35232 PHB_HUMAN prohibitin 240 cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis integral to plasma membrane|mitochondrial inner membrane|nucleoplasm histone deacetylase binding|transcription regulatory region DNA binding endometrium(4)|large_intestine(2)|lung(4) 10 all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18) Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) CAGCTTCCAGCTTGCGCAGCT 0.622000 6 17 0 0 1 0 0 SLC3A1 6519 broad.mit.edu 37 2 44502822 44502822 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:44502822G>A ENST00000260649.6 + 1 224 c.148G>A c.(148-150)Ggc>Agc p.G50S SLC3A1_ENST00000409229.3_Missense_Mutation_p.G50S|SLC3A1_ENST00000410056.3_Missense_Mutation_p.G50S|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G50S|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G50S NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 50 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) CAGCACCAGGGGCATCCTTGG 0.597000 9 19 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214816525 214816525 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:214816525G>A ENST00000366955.3 + 12 5012 c.4844G>A c.(4843-4845)aGc>aAc p.S1615N NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1711 2 X 96 AA approximate tandem repeats. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAGCTGACAAGCGTGACTCTG 0.478000 51 39 0 0 1 0 0 ADNP 23394 broad.mit.edu 37 20 49508224 49508224 + Missense_Mutation SNP A A C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr20:49508224A>C ENST00000396029.3 - 5 3594 c.3027T>G c.(3025-3027)agT>agG p.S1009R ADNP_ENST00000396032.3_Missense_Mutation_p.S1009R|ADNP_ENST00000349014.3_Missense_Mutation_p.S1009R|ADNP_ENST00000371602.4_Missense_Mutation_p.S1009R NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 1009 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 CAGCTGGCTTACTGCTCCTTG 0.463000 39 117 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1369194 1369194 + Silent SNP A A G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr3:1369194A>G ENST00000446702.2 + 10 1764 c.1137A>G c.(1135-1137)tcA>tcG p.S379S CNTN6_ENST00000350110.2_Silent_p.S379S|CNTN6_ENST00000539053.1_Silent_p.S307S Q9UQ52 CNTN6_HUMAN contactin 6 379 Ig-like C2-type 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGAATGTGTCAGATTCTGGTG 0.338000 19 63 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134019960 134019960 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:134019960C>G ENST00000359428.5 + 12 1732 c.1588C>G c.(1588-1590)Cta>Gta p.L530V RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.L530V|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.L530V|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 530 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TAAAGCCTCCCTAGCCCCCAC 0.577000 T """DEK, SET, ABL1""" """AML, T-ALL""" 35 88 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39797772 39797772 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:39797772G>T ENST00000564288.1 + 37 6289 c.5512G>T c.(5512-5514)Gcc>Tcc p.A1838S MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.A1875S|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.A1843S|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.A278S Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1843 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGCTAAGATCGCCCTTGTGAT 0.488000 28 97 2.48779e-11 3.43363e-11 1 1 0 FSTL5 56884 broad.mit.edu 37 4 162697072 162697072 + Missense_Mutation SNP A A C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:162697072A>C ENST00000306100.5 - 5 1000 c.564T>G c.(562-564)gaT>gaG p.D188E FSTL5_ENST00000427802.2_Missense_Mutation_p.D187E|FSTL5_ENST00000379164.4_Missense_Mutation_p.D187E|FSTL5_ENST00000536695.1_Missense_Mutation_p.D187E NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 188 EF-hand 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TACTGTCTGCATCAAAATATT 0.289000 37 96 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 102029383 102029383 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr13:102029383C>G ENST00000251127.6 - 5 481 c.400G>C c.(400-402)Gat>Cat p.D134H NALCN_ENST00000376200.5_Missense_Mutation_p.D134H|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.D134H NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 134 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) GACATCTGATCAACTATATCA 0.408000 14 64 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 154962 154962 + RNA SNP A A T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:154962A>T ENST00000510175.1 + 0 397 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) CAAAGATAAGATAAGATATAC 0.289000 4 17 0 0 1 0 0 SPATA33 124045 broad.mit.edu 37 16 89724821 89724821 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr16:89724821C>T ENST00000301031.4 + 2 200 c.200C>T c.(199-201)tCg>tTg p.S67L SPATA33_ENST00000568929.1_Missense_Mutation_p.S37L|SPATA33_ENST00000579310.1_Missense_Mutation_p.S68L NM_001271908.1|NM_153025.1 NP_001258837.1|NP_694570.1 spermatogenesis associated 33 CCGGCAGCTTCGCTGGAAGGT 0.672000 5 13 0 0 1 0 0 PHF21A 51317 broad.mit.edu 37 11 45992772 45992772 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:45992772G>A ENST00000257821.4 - 7 1130 c.507C>T c.(505-507)ctC>ctT p.L169L PHF21A_ENST00000418153.2_Silent_p.L169L|PHF21A_ENST00000323180.6_Silent_p.L169L NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 169 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 CATCAGTGCTGAGCACAGCCT 0.542000 30 78 0 0 1 0 0 TMEM176B 28959 broad.mit.edu 37 7 150490186 150490186 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:150490186T>A ENST00000447204.2 - 5 962 c.590A>T c.(589-591)cAg>cTg p.Q197L TMEM176B_ENST00000450753.2_Missense_Mutation_p.Q160L|TMEM176B_ENST00000326442.5_Missense_Mutation_p.Q197L|TMEM176B_ENST00000429904.2_Missense_Mutation_p.Q197L|TMEM176B_ENST00000434545.1_Missense_Mutation_p.Q197L|TMEM176B_ENST00000492607.1_Missense_Mutation_p.Q197L NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 197 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTCAGCATCTGCATGTAAGC 0.557000 14 65 0 0 1 0 0 ANKRD55 79722 broad.mit.edu 37 5 55466583 55466583 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:55466583G>A ENST00000341048.4 - 5 511 c.360C>T c.(358-360)caC>caT p.H120H ANKRD55_ENST00000504958.2_Silent_p.H120H|ANKRD55_ENST00000513241.2_Silent_p.H91H NM_024669.2 NP_078945.2 Q3KP44 ANR55_HUMAN ankyrin repeat domain 55 119 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1) 34 Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223) CTGGGATATTGTGCTTGGCAC 0.488000 35 95 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990462 63990462 + Missense_Mutation SNP A A T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr6:63990462A>T ENST00000370657.4 - 4 1027 c.994T>A c.(994-996)Tct>Act p.S332T LGSN_ENST00000370658.5_Silent_p.L191L Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 332 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TCAGTTCCAGAAGTGCTGCAG 0.483000 22 48 0 0 1 0 0 CCDC37 348807 broad.mit.edu 37 3 126154469 126154469 + Missense_Mutation SNP C C A rs148478516 TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr3:126154469C>A ENST00000393425.1 + 16 1798 c.1699C>A c.(1699-1701)Cgc>Agc p.R567S CCDC37_ENST00000352312.1_Missense_Mutation_p.R566S|CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000505024.1_Missense_Mutation_p.R567S Q494V2 CCD37_HUMAN coiled-coil domain containing 37 566 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) GGCCCGGGCGCGCGCCCAGGC 0.602000 4 25 0.00024832 0.000274359 1 1 0 LILRB4 11006 broad.mit.edu 37 19 55174999 55174999 + Missense_Mutation SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:55174999T>C ENST00000391736.1 + 4 359 c.44T>C c.(43-45)cTg>cCg p.L15P LILRB4_ENST00000391733.3_Missense_Mutation_p.L15P|LILRB4_ENST00000391734.3_Missense_Mutation_p.L15P|LILRB4_ENST00000270452.2_Missense_Mutation_p.L15P|LILRB4_ENST00000430952.2_Missense_Mutation_p.L15P NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 15 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GGGCTGAGTCTGGGCCCCAGG 0.562000 19 78 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50461659 50461659 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:50461659C>G ENST00000447370.2 - 8 1622 c.1532G>C c.(1531-1533)gGg>gCg p.G511A SIGLEC11_ENST00000426971.2_Intron NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 511 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GGCCCAGGGCCCGGCTGAGCT 0.701000 10 24 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24805965 24805965 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr16:24805965G>A ENST00000395799.3 + 8 3582 c.3453G>A c.(3451-3453)atG>atA p.M1151I TNRC6A_ENST00000315183.7_Missense_Mutation_p.M1151I NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1151 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) AGATTGGAATGTGGAATAGTA 0.438000 32 59 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18845911 18845911 + RNA SNP A A T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr22:18845911A>T ENST00000412938.1 + 0 3269 AAGAAAAGACACAGAGAAGGA 0.468000 3 20 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42680009 42680009 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr20:42680009G>T ENST00000358131.5 + 4 710 c.502G>T c.(502-504)Ggt>Tgt p.G168C TOX2_ENST00000341197.3_Missense_Mutation_p.G159C|TOX2_ENST00000435864.2_Missense_Mutation_p.G37C|TOX2_ENST00000372999.1_Missense_Mutation_p.G117C|TOX2_ENST00000423191.1_Missense_Mutation_p.G117C NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GCCCCTGCTGGGTCGCCCGGC 0.642000 12 29 1.49906e-05 1.69084e-05 1 1 0 ZNF211 10520 broad.mit.edu 37 19 58145430 58145430 + Splice_Site SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:58145430G>C ENST00000544273.1 + 3 453 c.e3+1 ZNF211_ENST00000240731.4_Splice_Site|ZNF211_ENST00000420680.1_Intron|ZNF211_ENST00000541801.1_Intron|ZNF211_ENST00000391703.3_Intron|ZNF211_ENST00000347302.3_Intron|ZNF211_ENST00000299871.5_Splice_Site|ZNF211_ENST00000254182.7_Splice_Site Q13398 ZN211_HUMAN zinc finger protein 211 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACTTACACAGGTAAGTGGAGG 0.517000 9 50 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120983919 120983919 + Splice_Site SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:120983919G>T ENST00000392793.1 + 5 895 c.e5+1 TECTA_ENST00000264037.2_Splice_Site O75443 TECTA_HUMAN tectorin alpha cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GATGGCACAGGTAGGTGGCTC 0.562000 OREG0021430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 65 2.89027e-11 3.95125e-11 1 1 0 PAQR6 79957 broad.mit.edu 37 1 156216474 156216474 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:156216474G>A ENST00000292291.5 - 2 207 c.49C>T c.(49-51)Cgg>Tgg p.R17W PAQR6_ENST00000335852.1_5'UTR|PAQR6_ENST00000368270.1_Intron|PAQR6_ENST00000540423.1_Intron|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000360733.2_5'UTR|PAQR6_ENST00000356983.2_5'UTR NM_001272104.1|NM_001272105.1|NM_198406.1 NP_001259033.1|NP_001259034.1|NP_940798.1 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 17 integral to membrane receptor activity lung(4)|ovary(1) 5 Hepatocellular(266;0.158) CCCCTCACCCGGGGGACCTGG 0.592000 5 41 0 0 1 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50190888 50190888 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:50190888C>A ENST00000335999.6 - 8 956 c.755G>T c.(754-756)gGa>gTa p.G252V NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 248 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 CAGCAGGCCTCCCAGGTTGCC 0.716000 5 7 0.184627 0.185486 1 1 0 PTPRB 5787 broad.mit.edu 37 12 70953089 70953089 + Missense_Mutation SNP A A G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:70953089A>G ENST00000551525.1 - 18 4769 c.4745T>C c.(4744-4746)aTg>aCg p.M1582T PTPRB_ENST00000550358.1_Intron|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000334414.6_Intron|PTPRB_ENST00000261266.5_Intron P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CCTCTACTCCATTTGAGAAAT 0.373000 52 122 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11795156 11795156 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:11795156G>A ENST00000262442.3 + 58 11243 c.11175G>A c.(11173-11175)gaG>gaA p.E3725E DNAH9_ENST00000396001.2_Silent_p.E37E|DNAH9_ENST00000454412.2_Silent_p.E3725E NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3725 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCCTCAGGGAGCGGGTGGCCA 0.547000 52 152 0 0 1 0 0 LGALS16 148003 broad.mit.edu 37 19 40149298 40149298 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:40149298C>A ENST00000392051.3 + 3 359 c.291C>A c.(289-291)ctC>ctA p.L97L NM_001190441.1 NP_001177370.1 A8MUM7 A8MUM7_HUMAN lectin, galactoside-binding, soluble, 16 97 sugar binding ACGTGTGTCTCAATGAGTATG 0.517000 4 7 0.014758 0.0153996 1 1 0 ARAP2 116984 broad.mit.edu 37 4 36162126 36162126 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:36162126G>A ENST00000303965.4 - 13 2886 c.2397C>T c.(2395-2397)ttC>ttT p.F799F NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 799 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 GAGTTTTTCTGAATTTTCCTT 0.303000 5 25 0 0 1 0 0 B3GALTL 145173 broad.mit.edu 37 13 31822048 31822048 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr13:31822048C>T ENST00000343307.4 + 6 553 c.404C>T c.(403-405)aCa>aTa p.T135I NM_194318.3 NP_919299.3 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 135 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) GAAGAAGAGACAAGAATACAG 0.343000 14 52 0 0 1 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140799283 140799283 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:140799283G>T ENST00000398594.2 + 1 1857 c.1857G>T c.(1855-1857)ctG>ctT p.L619L PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCAGCCTGGGGCTGCGAA 0.657000 30 81 2.68265e-12 3.7505e-12 1 1 0 MAPK8 5599 broad.mit.edu 37 10 49634457 49634457 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:49634457G>T ENST00000374189.1 + 9 1087 c.906G>T c.(904-906)ctG>ctT p.L302L MAPK8_ENST00000360332.3_Silent_p.L302L|MAPK8_ENST00000374182.3_Silent_p.L302L|MAPK8_ENST00000395611.3_Silent_p.L226L P45983 MK08_HUMAN mitogen-activated protein kinase 8 302 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding p.L302L(2) breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) CCAAAATGCTGGTAATAGATG 0.358000 36 70 7.04047e-22 1.1698e-21 1 1 0 G6PC2 57818 broad.mit.edu 37 2 169764540 169764540 + Missense_Mutation SNP C C A rs2232327 TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:169764540C>A ENST00000375363.3 + 5 1111 c.1019C>A c.(1018-1020)cCc>cAc p.P340H G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron NM_021176.2 NP_066999.1 Q9NQR9 G6PC2_HUMAN glucose-6-phosphatase, catalytic, 2 340 P -> L (in dbSNP:rs2232327). gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity p.P340H(1) breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 GCTTTCATTCCCTACTCTGTT 0.428000 46 123 2.47872e-24 4.18285e-24 1 1 0 BCL11A 53335 broad.mit.edu 37 2 60687819 60687819 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:60687819G>C ENST00000335712.6 - 4 2455 c.2228C>G c.(2227-2229)aCt>aGt p.T743S BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.T412S|BCL11A_ENST00000356842.4_Missense_Mutation_p.T743S|BCL11A_ENST00000538214.1_Missense_Mutation_p.T709S|BCL11A_ENST00000358510.4_Missense_Mutation_p.T709S NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 743 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GTACTCACAAGTGTCGCTGCG 0.587000 T IGH@ B-CLL 42 95 0 0 1 0 0 C4orf26 152816 broad.mit.edu 37 4 76481261 76481261 + Translation_Start_Site SNP A A T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:76481261A>T ENST00000311623.4 + 0 4 C4orf26_ENST00000514064.1_3'UTR NM_001257072.1|NM_178497.3 NP_001244001.1|NP_848592.2 Q17RF5 CD026_HUMAN chromosome 4 open reading frame 26 extracellular region kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AAGCAACATCAGGTTCAACGC 0.522000 10 26 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18757499 18757499 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:18757499T>A ENST00000304081.4 - 8 1380 c.1280A>T c.(1279-1281)gAc>gTc p.D427V NT5C1B_ENST00000359846.2_Missense_Mutation_p.D487V|NT5C1B_ENST00000600945.1_Missense_Mutation_p.D487V|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D487V NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GAAGAATTTGTCGAGCCCATG 0.398000 26 37 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228528530 228528530 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:228528530G>T ENST00000570156.2 + 83 20583 c.20509G>T c.(20509-20511)Gtg>Ttg p.V6837L OBSCN_ENST00000366709.4_Missense_Mutation_p.V2999L|OBSCN_ENST00000284548.11_Missense_Mutation_p.V5880L|OBSCN_ENST00000366707.4_Missense_Mutation_p.V3514L|OBSCN_ENST00000422127.1_Missense_Mutation_p.V5880L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5880 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.V6462M(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAAGCTGCACGTGTCCCTCAT 0.672000 5 15 0.014758 0.0153996 1 1 0 CTNNAL1 8727 broad.mit.edu 37 9 111753118 111753118 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:111753118G>A ENST00000374595.4 - 4 606 c.527C>T c.(526-528)gCa>gTa p.A176V CTNNAL1_ENST00000325551.4_Missense_Mutation_p.A176V|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.A176V Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 176 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) TTCCATAGTTGCGAGAACCTG 0.373000 13 40 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62287775 62287775 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:62287775T>A ENST00000378024.4 - 5 14388 c.14114A>T c.(14113-14115)aAg>aTg p.K4705M AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4705 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTTGGGGCCCTTTAGTTTCGC 0.488000 116 312 0 0 1 0 0 EXOC7 23265 broad.mit.edu 37 17 74080606 74080606 + Nonsense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:74080606C>A ENST00000607838.1 - 17 1931 c.1837G>T c.(1837-1839)Gga>Tga p.G613* EXOC7_ENST00000589210.1_Nonsense_Mutation_p.G590*|EXOC7_ENST00000332065.5_Nonsense_Mutation_p.G559*|EXOC7_ENST00000411744.2_Nonsense_Mutation_p.G582*|EXOC7_ENST00000335146.7_Nonsense_Mutation_p.G641*|EXOC7_ENST00000405575.4_Nonsense_Mutation_p.G613*|EXOC7_ENST00000467929.2_Nonsense_Mutation_p.G562* NM_001145297.2|NM_001145298.2|NM_001145299.2 NP_001138769.1|NP_001138770.1|NP_001138771.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 641 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) ACCTTGACTCCCGGCTGGAAC 0.547000 11 21 3.86212e-05 4.3336e-05 1 1 0 SPAG6 9576 broad.mit.edu 37 10 22680775 22680775 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:22680775G>T ENST00000376603.2 + 8 1493 c.1351G>T c.(1351-1353)Gca>Tca p.A451S SPAG6_ENST00000313311.6_Missense_Mutation_p.A375S|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000538630.1_Missense_Mutation_p.A350S|SPAG6_ENST00000376601.1_Missense_Mutation_p.A136S|SPAG6_ENST00000376624.3_Missense_Mutation_p.A375S|RP11-301N24.3_ENST00000422675.1_RNA O75602 SPAG6_HUMAN sperm associated antigen 6 375 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 ACGGGCTGTTGCAGTCACAAA 0.433000 19 58 2.4624e-09 3.15654e-09 1 1 0 MYH8 4626 broad.mit.edu 37 17 10302105 10302105 + Nonsense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:10302105G>A ENST00000403437.2 - 29 4055 c.3961C>T c.(3961-3963)Caa>Taa p.Q1321* CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1321 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 TCCTCTAGTTGATGTTTCAGC 0.388000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 25 84 0 0 1 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710463 140710463 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:140710463G>T ENST00000517417.1 + 1 212 c.212G>T c.(211-213)aGg>aTg p.R71M PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R71M NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAGAGGTAGGATGCCGCTT 0.597000 51 170 8.72198e-27 1.4952e-26 1 1 0 FEZF1 389549 broad.mit.edu 37 7 121942157 121942157 + Missense_Mutation SNP G G T rs144474907 byFrequency TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:121942157G>T ENST00000442488.2 - 4 1389 c.1322C>A c.(1321-1323)cCg>cAg p.P441Q FEZF1_ENST00000331178.4_Missense_Mutation_p.P437Q|FEZF1_ENST00000427185.2_Missense_Mutation_p.P391Q NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 441 Pro-rich. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 cgggggcggcggTTCAGTGCC 0.706000 13 49 6.72482e-11 9.10697e-11 1 1 0 DUOXA2 405753 broad.mit.edu 37 15 45408446 45408446 + Silent SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr15:45408446T>C ENST00000323030.5 + 3 615 c.330T>C c.(328-330)atT>atC p.I110I NM_207581.3 NP_997464.2 Q1HG44 DOXA2_HUMAN dual oxidase maturation factor 2 110 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) GCATTAATATTACACTCACAG 0.577000 8 127 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 33038318 33038318 + Splice_Site SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:33038318C>T ENST00000357033.4 - 2 238 c.e2-1 DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000288447.4_Splice_Site NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTCTTTCATCTAAAATGCAA 0.249000 9 4 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129618857 129618857 + Silent SNP A A C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr6:129618857A>C ENST00000421865.2 + 21 2933 c.2884A>C c.(2884-2886)Agg>Cgg p.R962R NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 962 Laminin EGF-like 9. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACAATCAGCAAGGGGCTGTGT 0.453000 31 29 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13240793 13240793 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:13240793G>T ENST00000378694.1 + 15 2299 c.2224G>T c.(2224-2226)Ggc>Tgc p.G742C MCM10_ENST00000484800.2_Missense_Mutation_p.G743C|MCM10_ENST00000378714.3_Missense_Mutation_p.G742C Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 743 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 AAAACACACAGGCATCCTGAA 0.438000 25 57 6.32553e-13 8.98891e-13 1 1 0 TFAP2D 83741 broad.mit.edu 37 6 50696618 50696618 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr6:50696618C>A ENST00000008391.3 + 4 876 c.648C>A c.(646-648)ggC>ggA p.G216G TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 216 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CTGTCCCTGGCCGTTTGTCCC 0.473000 20 128 8.34094e-07 9.73861e-07 1 1 0 AGPAT9 84803 broad.mit.edu 37 4 84457912 84457912 + Missense_Mutation SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:84457912T>C ENST00000395226.2 + 2 355 c.137T>C c.(136-138)tTa>tCa p.L46S AGPAT9_ENST00000264409.4_Missense_Mutation_p.L46S NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 46 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) GTGAAAACTTTAGAGGTGAGT 0.582000 11 36 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62599251 62599251 + Nonsense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:62599251G>T ENST00000512091.1 + 7 1921 c.1174G>T c.(1174-1176)Gga>Tga p.G392* LPHN3_ENST00000507164.1_Nonsense_Mutation_p.G460*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.G460*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.G392*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.G460*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.G392*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.G392*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.G392*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.G460*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.G392*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.G392*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.G460*|LPHN3_ENST00000514591.1_Nonsense_Mutation_p.G392*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.G460*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.G460* Q9HAR2 LPHN3_HUMAN latrophilin 3 392 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TTTGGATTTTGGACCTCTGGA 0.358000 6 30 0.00116845 0.00126192 1 1 0 SLC26A3 1811 broad.mit.edu 37 7 107430026 107430026 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:107430026G>T ENST00000340010.5 - 6 862 c.678C>A c.(676-678)ctC>ctA p.L226L SLC26A3_ENST00000422236.2_Silent_p.L191L NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 226 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 AAATGAATTTGAGTTGGGAAA 0.388000 23 43 2.89027e-11 3.95125e-11 1 1 0 TGIF2 60436 broad.mit.edu 37 20 35207322 35207322 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr20:35207322C>G ENST00000373874.2 + 2 344 c.145C>G c.(145-147)Cag>Gag p.Q49E RP5-977B1.11_ENST00000561134.1_RNA|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.Q49E|TGIF2_ENST00000373872.4_Missense_Mutation_p.Q49E NM_001199514.1|NM_001199515.1 NP_001186443.1|NP_001186444.1 Q9GZN2 TGIF2_HUMAN TGFB-induced factor homeobox 2 49 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) CCCCTCAGAGCAGGAGAAGCT 0.597000 22 72 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26681821 26681821 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:26681821G>T ENST00000256737.3 + 27 3628 c.2776G>T c.(2776-2778)Ggg>Tgg p.G926W ANO3_ENST00000531568.1_Missense_Mutation_p.G780W|ANO3_ENST00000537978.1_Missense_Mutation_p.G910W|ANO3_ENST00000525139.1_Missense_Mutation_p.G910W NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 926 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 CCTTGTTTTTGGGATTAAGTC 0.353000 42 110 1.8453e-21 3.03106e-21 1 1 0 CLEC4G 339390 broad.mit.edu 37 19 7795936 7795936 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:7795936C>T ENST00000328853.5 - 4 327 c.259G>A c.(259-261)Gag>Aag p.E87K CLEC4G_ENST00000598081.1_5'UTR NM_001244856.1|NM_198492.3 NP_001231785.1|NP_940894.1 Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G 87 integral to membrane protein binding|sugar binding breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1) 6 TCTCCGACCTCCTCCTTCAGG 0.716000 9 21 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208842 58208842 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr13:58208842C>A ENST00000377918.3 + 1 2188 c.2162C>A c.(2161-2163)gCg>gAg p.A721E NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 721 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATCCTCCTAGCGGCCATGATC 0.612000 22 81 0.000229342 0.000254693 1 1 0 CACNB1 782 broad.mit.edu 37 17 37343117 37343117 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:37343117G>A ENST00000394303.3 - 5 687 c.480C>T c.(478-480)ccC>ccT p.P160P CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000344140.5_Silent_p.P160P|CACNB1_ENST00000394310.3_Silent_p.P160P NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 160 SH3. axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) TGACGGGGCTGGGAATGAAGC 0.587000 19 53 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88678498 88678498 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr15:88678498C>A ENST00000394480.1 - 10 1359 c.1038G>T c.(1036-1038)aaG>aaT p.K346N NTRK3_ENST00000540489.2_Missense_Mutation_p.K346N|NTRK3_ENST00000360948.2_Missense_Mutation_p.K346N|NTRK3_ENST00000357724.2_Missense_Mutation_p.K346N|NTRK3_ENST00000558676.1_Missense_Mutation_p.K346N|NTRK3_ENST00000317501.3_Missense_Mutation_p.K346N|NTRK3_ENST00000542733.2_Missense_Mutation_p.K248N|NTRK3_ENST00000355254.2_Missense_Mutation_p.K346N|NTRK3_ENST00000557856.1_Missense_Mutation_p.K346N NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 346 Ig-like C2-type 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CATGGATGATCTTGGACTCCC 0.567000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 37 89 3.66082e-28 6.37691e-28 1 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232601032 232601032 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:232601032G>T ENST00000366630.1 - 8 2732 c.2374C>A c.(2374-2376)Cat>Aat p.H792N SIPA1L2_ENST00000262861.4_Missense_Mutation_p.H792N Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 792 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TCTGATTTATGGGCTGCATTT 0.483000 30 194 8.16721e-17 1.2646e-16 1 1 0 ITK 3702 broad.mit.edu 37 5 156638348 156638348 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:156638348C>A ENST00000422843.3 + 3 446 c.294C>A c.(292-294)agC>agA p.S98R CTB-4E7.1_ENST00000519375.1_RNA NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 98 PH. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATCGTGAGAGCCGGCAGCGCT 0.488000 T SYK peripheral T-cell lymphoma 32 91 7.11191e-15 1.06679e-14 1 1 0 BMPR1A 657 broad.mit.edu 37 10 88677014 88677014 + Nonsense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:88677014G>T ENST00000372037.2 + 9 1336 c.799G>T c.(799-801)Gaa>Taa p.E267* NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 267 Protein kinase. BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 CTTTACCACTGAAGAAGCCAG 0.448000 """Mis, N, F""" gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 17 48 1.9806e-07 2.37672e-07 1 1 0 ZNF518B 85460 broad.mit.edu 37 4 10446124 10446124 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:10446124T>A ENST00000326756.3 - 3 2267 c.1829A>T c.(1828-1830)cAg>cTg p.Q610L NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 610 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 ATCCCCAGGCTGTTGAGATCT 0.398000 71 168 0 0 1 0 0 CARS 833 broad.mit.edu 37 11 3022478 3022478 + Splice_Site SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:3022478C>A ENST00000397114.3 - 23 2459 c.2082_splice c.e23-1 p.G695_splice CARS_ENST00000278224.9_Splice_Site_p.M707_splice|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000380525.4_Splice_Site_p.G788_splice|CARS_ENST00000401769.3_Splice_Site_p.M720_splice|CARS_ENST00000397111.5_Splice_Site_p.G705_splice P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 705 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) GTGGGCAGACCCTGAAAACCC 0.537000 T ALK ALCL 19 53 3.99206e-14 5.80663e-14 1 1 0 TRBV19 28568 broad.mit.edu 37 7 142326801 142326801 + RNA SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:142326801G>T ENST00000390393.3 + 0 307 TGTTCAGAAAGGAAGGACAGA 0.517000 23 110 5.48756e-27 9.44473e-27 1 1 0 NFKBIA 4792 broad.mit.edu 37 14 35871600 35871600 + Splice_Site SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr14:35871600C>T ENST00000216797.5 - 5 1007 c.906_splice c.e5+1 p.E302_splice NFKBIA_ENST00000557140.1_Splice_Site_p.E259_splice|NFKBIA_ENST00000557389.1_Splice_Site_p.E212_splice NM_020529.2 NP_065390.1 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 302 anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|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|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) ACAGACTCACCTCGTCCTCTG 0.532000 34 88 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 171958099 171958099 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:171958099C>T ENST00000358155.4 + 4 576 c.400C>T c.(400-402)Ctt>Ttt p.L134F DNM3_ENST00000355305.5_Missense_Mutation_p.L134F|DNM3_ENST00000367733.2_Missense_Mutation_p.L134F|DNM3_ENST00000520906.1_Missense_Mutation_p.L134F|DNM3_ENST00000367731.1_Missense_Mutation_p.L134F NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 134 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 AAATCTAACCCTTATTGATCT 0.393000 10 8 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28539963 28539963 + Nonsense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr6:28539963C>A ENST00000452236.2 - 4 4320 c.3703G>T c.(3703-3705)Gga>Tga p.G1235* NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1235 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 attttcaatccttcgtcggta 0.333000 21 87 2.89027e-11 3.95125e-11 1 1 0 LILRA2 11027 broad.mit.edu 37 19 55086874 55086874 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:55086874G>T ENST00000251377.3 + 6 940 c.807G>T c.(805-807)tgG>tgT p.W269C LILRA2_ENST00000391737.1_Missense_Mutation_p.W257C|LILRA2_ENST00000391738.3_Missense_Mutation_p.W269C|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.W269C|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GCCCTGGTTGGCAGCCCCAGG 0.617000 30 79 3.03874e-20 4.91661e-20 1 1 0 PCDHGB3 56102 broad.mit.edu 37 5 140750264 140750264 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:140750264G>T ENST00000576222.1 + 1 434 c.303G>T c.(301-303)acG>acT p.T101T PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAAGTCGACGTGTGTTCTGG 0.433000 91 260 1.38319e-45 2.56454e-45 1 1 0 LILRB4 11006 broad.mit.edu 37 19 55175000 55175000 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:55175000G>T ENST00000391736.1 + 4 360 c.45G>T c.(43-45)ctG>ctT p.L15L LILRB4_ENST00000391733.3_Silent_p.L15L|LILRB4_ENST00000391734.3_Silent_p.L15L|LILRB4_ENST00000270452.2_Silent_p.L15L|LILRB4_ENST00000430952.2_Silent_p.L15L NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 15 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GGCTGAGTCTGGGCCCCAGGA 0.567000 20 78 1.5548e-18 2.4785e-18 1 1 0 IGF2BP1 10642 broad.mit.edu 37 17 47121402 47121402 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:47121402G>T ENST00000290341.3 + 11 1608 c.1274G>T c.(1273-1275)gGg>gTg p.G425V IGF2BP1_ENST00000431824.2_Missense_Mutation_p.G286V NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 425 KH 3.|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 GGCAAGAAGGGGCAGCACATC 0.587000 24 57 9.57634e-11 1.28878e-10 1 1 0 TNP2 7142 broad.mit.edu 37 16 11362812 11362812 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr16:11362812G>C ENST00000312693.3 - 1 377 c.308C>G c.(307-309)cCc>cGc p.P103R RMI2_ENST00000572173.1_Intron NM_005425.4 NP_005416.1 Q05952 STP2_HUMAN transition protein 2 (during histone to protamine replacement) 103 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding p.0?(1) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 TCTGTTCTTGGGGCAGCGGCA 0.527000 11 55 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53603010 53603010 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr13:53603010C>A ENST00000219022.2 + 1 117 c.39C>A c.(37-39)ttC>ttA p.F13L NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 13 cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) CCCTTCTGTTCTTCCTTGGCC 0.587000 48 152 6.03219e-31 1.07682e-30 1 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33576970 33576970 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:33576970G>C ENST00000504830.1 - 19 3496 c.3161C>G c.(3160-3162)aCc>aGc p.T1054S ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T969S NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1054 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGAGGCTGTGGTAGGACTAGG 0.562000 HNSCC(64;0.19) 21 74 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235878548 235878548 + Missense_Mutation SNP A A G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:235878548A>G ENST00000389794.3 - 42 9911 c.9737T>C c.(9736-9738)tTc>tCc p.F3246S LYST_ENST00000389793.2_Missense_Mutation_p.F3246S|LYST_ENST00000473037.1_5'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 3246 BEACH. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CCTGACCAGGAAGTGAAGCAC 0.458000 28 164 0 0 1 0 0 FOXP1 27086 broad.mit.edu 37 3 71050204 71050204 + Silent SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr3:71050204G>C ENST00000318789.4 - 13 1506 c.981C>G c.(979-981)ctC>ctG p.L327L FOXP1_ENST00000491238.1_Silent_p.L329L|FOXP1_ENST00000493089.1_Silent_p.L327L|FOXP1_ENST00000498215.1_Silent_p.L327L|FOXP1_ENST00000484350.1_Silent_p.L251L|FOXP1_ENST00000475937.1_Silent_p.L327L|FOXP1_ENST00000468577.1_Silent_p.L327L NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 327 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GCTCACTGTTGAGATGTCTGC 0.383000 T PAX5 ALL 22 70 0 0 1 0 0 PRKACG 5568 broad.mit.edu 37 9 71628085 71628085 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:71628085C>T ENST00000377276.2 - 1 954 c.924G>A c.(922-924)gaG>gaA p.E308E NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 308 AGC-kinase C-terminal. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 CCACCTTCTTCTCATAGATGG 0.552000 49 76 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620488 7620488 + Missense_Mutation SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr3:7620488T>C ENST00000486284.1 + 8 2169 c.1895T>C c.(1894-1896)cTt>cCt p.L632P GRM7_ENST00000403881.1_Missense_Mutation_p.L632P|GRM7_ENST00000357716.4_Missense_Mutation_p.L632P|GRM7_ENST00000389336.4_Missense_Mutation_p.L632P|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.L632P NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 632 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) AGCTATGTTCTTTTGACGGGC 0.498000 73 146 0 0 1 0 0 CXCR2P1 3580 broad.mit.edu 37 2 218925149 218925149 + RNA SNP G G A rs6758271 by1000genomes TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:218925149G>A ENST00000439871.1 - 0 1231 NR_002712.1 TGATCAAGCCGTGTATGGCTA 0.502000 5 75 0 0 1 0 0 GCNT4 51301 broad.mit.edu 37 5 74324737 74324737 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:74324737C>A ENST00000322348.4 - 1 1987 c.1126G>T c.(1126-1128)Ggc>Tgc p.G376C NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 376 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) TAGAAAAAGCCTTCATAGTAA 0.458000 19 60 1.67942e-08 2.07288e-08 1 1 0 DLGAP2 9228 broad.mit.edu 37 8 1575027 1575027 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:1575027C>A ENST00000421627.2 + 4 1458 c.1324C>A c.(1324-1326)Ctg>Atg p.L442M NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 521 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CGTCAGCACCCTGAGCCAGGC 0.667000 4 7 0.150653 0.152775 1 1 0 HPX 3263 broad.mit.edu 37 11 6453180 6453180 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:6453180C>A ENST00000265983.3 - 8 1003 c.903G>T c.(901-903)tgG>tgT p.W301C NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 301 Hemopexin-like 4. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GACCCTGGGGCCACTGATGAG 0.577000 56 127 3.07002e-29 5.39125e-29 1 1 0 CACNA1C 775 broad.mit.edu 37 12 2711026 2711026 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:2711026G>T ENST00000399655.1 + 22 3125 c.2860G>T c.(2860-2862)Gct>Tct p.A954S CACNA1C_ENST00000399629.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000480911.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A954S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A954S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A954S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A974S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A974S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A954S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A954S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A979S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A954S NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 974 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCAGATGACTGCTTATGGGGC 0.572000 14 33 3.27435e-08 3.99582e-08 1 1 0 CLEC1A 51267 broad.mit.edu 37 12 10233909 10233909 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:10233909C>A ENST00000315330.4 - 3 380 c.318G>T c.(316-318)caG>caT p.Q106H CLEC1A_ENST00000457018.2_Missense_Mutation_p.Q73H|CLEC1A_ENST00000420265.2_Intron NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 106 cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 GCTTTATATTCTGGACTTGAA 0.443000 38 107 4.32679e-17 6.72365e-17 1 1 0 TNFSF15 9966 broad.mit.edu 37 9 117568147 117568147 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr9:117568147C>A ENST00000374045.4 - 1 259 c.146G>T c.(145-147)gGa>gTa p.G49V NM_001204344.1|NM_005118.3 NP_001191273.1|NP_005109.2 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, member 15 49 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1) 11 TGTGGTGAGTCCTGCAAGGAA 0.637000 21 40 1.87028e-06 2.17194e-06 1 1 0 BDP1 55814 broad.mit.edu 37 5 70858315 70858315 + Nonsense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:70858315C>T ENST00000358731.4 + 38 7974 c.7711C>T c.(7711-7713)Caa>Taa p.Q2571* BDP1_ENST00000380675.2_3'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2571 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) TATTACTACTCAATCTGAGAA 0.348000 41 113 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662869 662869 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:662869G>T ENST00000266383.5 + 14 1793 c.1780G>T c.(1780-1782)Gtg>Ttg p.V594L NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 594 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GGAGGAAGTGGTGGCGGCCGC 0.617000 18 42 3.32936e-07 3.9405e-07 1 1 0 CALN1 83698 broad.mit.edu 37 7 71488746 71488746 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:71488746G>C ENST00000395275.2 - 5 785 c.397C>G c.(397-399)Cag>Gag p.Q133E CALN1_ENST00000412588.1_Missense_Mutation_p.Q133E|CALN1_ENST00000395276.2_Missense_Mutation_p.Q91E|CALN1_ENST00000329008.5_Missense_Mutation_p.Q91E|CALN1_ENST00000431984.1_Missense_Mutation_p.Q91E|CALN1_ENST00000405452.2_Missense_Mutation_p.Q91E NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 91 Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) AAATCCACCTGGCCATCCCCT 0.448000 30 61 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75960891 75960891 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:75960891G>T ENST00000274364.6 + 22 2867 c.2570G>T c.(2569-2571)gGa>gTa p.G857V IQGAP2_ENST00000379730.3_Missense_Mutation_p.G359V|IQGAP2_ENST00000502745.1_Missense_Mutation_p.G353V|IQGAP2_ENST00000396234.3_Missense_Mutation_p.G353V NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 857 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AAGAAAAAAGGAGGAGAAATG 0.328000 11 63 0.000978159 0.00106708 1 1 0 ZC3H13 23091 broad.mit.edu 37 13 46542005 46542005 + Missense_Mutation SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr13:46542005T>C ENST00000242848.4 - 15 4303 c.3955A>G c.(3955-3957)Agg>Ggg p.R1319G ZC3H13_ENST00000378921.2_Missense_Mutation_p.R275G|ZC3H13_ENST00000282007.3_Missense_Mutation_p.R1319G Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1319 nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) tctctctgcctcgtatctctc 0.493000 32 64 0 0 1 0 0 BTG4 54766 broad.mit.edu 37 11 111365897 111365897 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:111365897C>A ENST00000356018.2 - 5 852 c.653G>T c.(652-654)cGg>cTg p.R218L NM_017589.3 NP_060059.1 Q9NY30 BTG4_HUMAN B-cell translocation gene 4 218 cell cycle arrest|negative regulation of cell proliferation|neuron differentiation large_intestine(2)|upper_aerodigestive_tract(1) 3 all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509) CCTGTCCAGCCGGTGCATAGC 0.552000 26 55 7.26314e-15 1.0857e-14 1 1 0 POF1B 79983 broad.mit.edu 37 X 84569447 84569447 + Nonsense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:84569447G>T ENST00000262753.4 - 9 1093 c.948C>A c.(946-948)taC>taA p.Y316* POF1B_ENST00000373145.3_Nonsense_Mutation_p.Y316* NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 316 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 CCTGCAGAATGTAGCGTATTT 0.383000 16 11 2.31682e-05 2.60643e-05 1 1 0 MAP1A 4130 broad.mit.edu 37 15 43818748 43818748 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr15:43818748C>A ENST00000382031.1 + 5 5822 c.5791C>A c.(5791-5793)Cag>Aag p.Q1931K MAP1A_ENST00000300231.5_Missense_Mutation_p.Q1693K|MAP1A_ENST00000399453.1_Missense_Mutation_p.Q1693K P78559 MAP1A_HUMAN microtubule-associated protein 1A 1693 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) GGCCTTGGAACAGGACACATA 0.602000 9 22 4.68919e-08 5.70628e-08 1 1 0 ITPR3 3710 broad.mit.edu 37 6 33638117 33638117 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr6:33638117C>T ENST00000374316.5 + 20 3265 c.2205C>T c.(2203-2205)ctC>ctT p.L735L ITPR3_ENST00000605930.1_Silent_p.L735L Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 735 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 AGCTGAAGCTCTTTGCCCGCA 0.607000 42 80 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1575026 1575026 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:1575026C>A ENST00000421627.2 + 4 1457 c.1323C>A c.(1321-1323)acC>acA p.T441T NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 520 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCGTCAGCACCCTGAGCCAGG 0.672000 4 7 0.150653 0.152775 1 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140724491 140724491 + Silent SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:140724491G>C ENST00000253812.6 + 1 891 c.891G>C c.(889-891)gtG>gtC p.V297V PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAACTCAGTGAGTGGAGAAG 0.383000 13 44 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78569162 78569162 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:78569162C>A ENST00000397909.2 + 25 5231 c.5058C>A c.(5056-5058)ggC>ggA p.G1686G NAV3_ENST00000228327.6_Silent_p.G1686G|NAV3_ENST00000266692.7_Silent_p.G1509G|NAV3_ENST00000536525.2_Silent_p.G1686G Q8IVL0 NAV3_HUMAN neuron navigator 3 1686 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CCAGTATTGGCAGTGGTAATG 0.403000 HNSCC(70;0.22) 25 83 2.21704e-12 3.10961e-12 1 1 0 ITGA8 8516 broad.mit.edu 37 10 15617546 15617546 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:15617546G>T ENST00000378076.3 - 24 2773 c.2420C>A c.(2419-2421)cCa>cAa p.P807Q NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 807 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CTCCTCTTCTGGTTCCCAGTT 0.443000 27 68 1.55811e-20 2.53046e-20 1 1 0 MMP11 4320 broad.mit.edu 37 22 24122662 24122662 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr22:24122662G>T ENST00000215743.3 + 3 507 c.455G>T c.(454-456)cGt>cTt p.R152L MMP11_ENST00000477567.1_3'UTR NM_005940.3 NP_005931.2 P24347 MMP11_HUMAN matrix metallopeptidase 11 (stromelysin 3) 152 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) CACGAGGGCCGTGCTGACATC 0.642000 17 55 1.56452e-12 2.20874e-12 1 1 0 NID2 22795 broad.mit.edu 37 14 52520632 52520632 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr14:52520632G>T ENST00000216286.5 - 5 1093 c.1094C>A c.(1093-1095)aCc>aAc p.T365N NID2_ENST00000541773.1_Missense_Mutation_p.T312N NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 365 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TCCTTCTTTGGTGTGAGGATC 0.517000 27 68 7.41945e-09 9.2369e-09 1 1 0 FRG1B 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 13 300 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9792733 9792733 + Missense_Mutation SNP G G A rs143908746 byFrequency TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:9792733G>A ENST00000262441.5 + 13 1886 c.1373G>A c.(1372-1374)cGc>cAc p.R458H GLP2R_ENST00000574745.1_Missense_Mutation_p.R278H NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 458 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) TTGCTAGCCCGCCACTCAGGC 0.562000 17 39 0 0 1 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100002653 100002653 + Nonsense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:100002653C>A ENST00000398027.2 - 13 1481 c.1234G>T c.(1234-1236)Gaa>Taa p.E412* ZCWPW1_ENST00000324725.6_Nonsense_Mutation_p.E292*|ZCWPW1_ENST00000360951.4_Nonsense_Mutation_p.E413*|ZCWPW1_ENST00000490721.1_Nonsense_Mutation_p.E292* NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 412 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) CTGATCTGTTCTGCCTCTTGA 0.473000 68 183 9.13743e-30 1.62443e-29 1 1 0 CLN5 1203 broad.mit.edu 37 13 77566284 77566284 + Silent SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr13:77566284G>T ENST00000377453.3 + 1 1490 c.198G>T c.(196-198)gcG>gcT p.A66A CLN5_ENST00000485938.1_3'UTR NM_006493.2 NP_006484.1 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 17 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) ggcggggcgcgggcgcggcTC 0.746000 5 16 0.0215528 0.022328 1 1 0 SLFN12L 100506736 broad.mit.edu 37 17 33849821 33849821 + Translation_Start_Site SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:33849821C>A ENST00000361112.4 - 0 456 Q6IEE8 SN12L_HUMAN schlafen family member 12-like integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 CAGATGACTCCTGGCTTCTCC 0.488000 12 30 2.27111e-07 2.71778e-07 1 1 0 LPHN3 23284 broad.mit.edu 37 4 62599252 62599252 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:62599252G>T ENST00000512091.1 + 7 1922 c.1175G>T c.(1174-1176)gGa>gTa p.G392V LPHN3_ENST00000507164.1_Missense_Mutation_p.G460V|LPHN3_ENST00000506720.1_Missense_Mutation_p.G460V|LPHN3_ENST00000514996.1_Missense_Mutation_p.G392V|LPHN3_ENST00000511324.1_Missense_Mutation_p.G460V|LPHN3_ENST00000506700.1_Missense_Mutation_p.G392V|LPHN3_ENST00000514157.1_Missense_Mutation_p.G392V|LPHN3_ENST00000504896.1_Missense_Mutation_p.G392V|LPHN3_ENST00000509896.1_Missense_Mutation_p.G460V|LPHN3_ENST00000508946.1_Missense_Mutation_p.G392V|LPHN3_ENST00000545650.1_Missense_Mutation_p.G392V|LPHN3_ENST00000507625.1_Missense_Mutation_p.G460V|LPHN3_ENST00000514591.1_Missense_Mutation_p.G392V|LPHN3_ENST00000506746.1_Missense_Mutation_p.G460V|LPHN3_ENST00000508693.1_Missense_Mutation_p.G460V Q9HAR2 LPHN3_HUMAN latrophilin 3 392 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.G392V(3) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TTGGATTTTGGACCTCTGGAT 0.358000 6 29 0.00116845 0.00126192 1 1 0 B3GNT1 11041 broad.mit.edu 37 11 66114913 66114913 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:66114913C>A ENST00000311181.4 - 1 250 c.104G>T c.(103-105)gGa>gTa p.G35V NM_006876.2 NP_006867.1 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 35 poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 12 CCCGTGCAGTCCGGACAGCAG 0.647000 8 7 1.58986e-06 1.85127e-06 1 1 0 FUZ 80199 broad.mit.edu 37 19 50310428 50310428 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:50310428C>T ENST00000313777.4 - 11 1400 c.1237G>A c.(1237-1239)Gcc>Acc p.A413T FUZ_ENST00000528094.1_Missense_Mutation_p.A377T|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000533418.1_Missense_Mutation_p.A363T NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 413 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) GGGGTGAGGGCATGCAGAGTG 0.592000 11 38 0 0 1 0 0 EXOC7 23265 broad.mit.edu 37 17 74080607 74080607 + Silent SNP C C A rs148929452 TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:74080607C>A ENST00000607838.1 - 17 1930 c.1836G>T c.(1834-1836)ccG>ccT p.P612P EXOC7_ENST00000589210.1_Silent_p.P589P|EXOC7_ENST00000332065.5_Silent_p.P558P|EXOC7_ENST00000411744.2_Silent_p.P581P|EXOC7_ENST00000335146.7_Silent_p.P640P|EXOC7_ENST00000405575.4_Silent_p.P612P|EXOC7_ENST00000467929.2_Silent_p.P561P NM_001145297.2|NM_001145298.2|NM_001145299.2 NP_001138769.1|NP_001138770.1|NP_001138771.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 640 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) CCTTGACTCCCGGCTGGAACA 0.547000 10 22 0.000442599 0.000486521 1 1 0 CHRNA4 1137 broad.mit.edu 37 20 61990927 61990927 + Silent SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr20:61990927G>C ENST00000370263.4 - 2 422 c.201C>G c.(199-201)ggC>ggG p.G67G CHRNA4_ENST00000463705.1_Intron NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 67 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CGATGGACAGGCCGAAGCGGA 0.632000 11 45 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3200874 3200874 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:3200874C>G ENST00000602557.1 - 24 4131 c.3576G>C c.(3574-3576)tgG>tgC p.W1192C CSMD1_ENST00000542608.1_Missense_Mutation_p.W1191C|CSMD1_ENST00000537824.1_Missense_Mutation_p.W1191C|CSMD1_ENST00000400186.3_Missense_Mutation_p.W1192C|CSMD1_ENST00000520002.1_Missense_Mutation_p.W1192C|CSMD1_ENST00000539096.1_Missense_Mutation_p.W1191C|CSMD1_ENST00000602723.1_Missense_Mutation_p.W1192C Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1192 CUB 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGAACTCTAGCCACAGGTGAT 0.423000 39 65 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7092437 7092437 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:7092437G>T ENST00000299481.4 + 12 3526 c.3180G>T c.(3178-3180)caG>caT p.Q1060H NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 1060 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AGGAAGCCCAGAAGCTGCTGG 0.433000 25 47 2.98393e-07 3.56093e-07 1 1 0 CNKSR2 22866 broad.mit.edu 37 X 21624983 21624983 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:21624983C>A ENST00000425654.2 + 18 2521 c.2041C>A c.(2041-2043)Cca>Aca p.P681T CNKSR2_ENST00000379510.3_Missense_Mutation_p.P711T|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P711T|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P662T NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 711 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 TGATACATACCCACGACCTCC 0.398000 27 22 4.74835e-14 6.88352e-14 1 1 0 ERICH1 157697 broad.mit.edu 37 8 642556 642556 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:642556C>T ENST00000262109.7 - 3 303 c.226G>A c.(226-228)Gag>Aag p.E76K ERICH1_ENST00000522706.1_Intron|ERICH1_ENST00000518277.1_5'UTR NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 76 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) ACGTAGCCCTCAGGAGGCCCG 0.597000 14 81 0 0 1 0 0 RAVER1 125950 broad.mit.edu 37 19 10439614 10439614 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:10439614G>C ENST00000293677.6 - 3 592 c.511C>G c.(511-513)Ccc>Gcc p.P171A NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 154 RRM 2. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CTGCCGAAGGGCCGCACCAGC 0.632000 5 6 0 0 1 0 0 C19orf44 84167 broad.mit.edu 37 19 16611970 16611970 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:16611970G>T ENST00000221671.3 + 2 523 c.367G>T c.(367-369)Gcc>Tcc p.A123S CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.A123S NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 123 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 CTCAATGACCGCCGATGCTGG 0.542000 33 68 2.1956e-27 3.80923e-27 1 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88885415 88885415 + Nonsense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:88885415C>T ENST00000319675.3 - 1 881 c.785G>A c.(784-786)tGg>tAg p.W262* NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 262 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AATGGCCTTCCACCCGCTGCC 0.502000 63 80 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156646841 156646841 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:156646841C>T ENST00000368223.3 - 1 348 c.216G>A c.(214-216)cgG>cgA p.R72R NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 72 Coil 1B.|Rod. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CGTGCTTCTCCCGCCAGCGTT 0.741000 4 16 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10211558 10211558 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:10211558G>A ENST00000377157.3 + 20 3191 c.2130G>A c.(2128-2130)atG>atA p.M710I UBE4B_ENST00000343090.6_Missense_Mutation_p.M955I|UBE4B_ENST00000253251.8_Missense_Mutation_p.M826I NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 955 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TTTTTGAAATGATTGAGAACC 0.453000 39 123 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167228 140167228 + Silent SNP C C T rs143660641 TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:140167228C>T ENST00000504120.2 + 1 1353 c.1353C>T c.(1351-1353)aaC>aaT p.N451N PCDHA1_ENST00000378133.3_Silent_p.N451N|PCDHA1_ENST00000394633.3_Silent_p.N451N NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAATGACAACGCGCCTGCGT 0.677000 44 80 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41559874 41559874 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr21:41559874C>A ENST00000400454.1 - 13 3071 c.2594G>T c.(2593-2595)tGc>tTc p.C865F NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 865 Ig-like C2-type 9. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) AATAGCATGGCAGGAAAAGAA 0.398000 22 61 1.50039e-11 2.07746e-11 1 1 0 SLC6A9 6536 broad.mit.edu 37 1 44467199 44467199 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:44467199C>A ENST00000372310.3 - 9 1228 c.1063G>T c.(1063-1065)Gat>Tat p.D355Y SLC6A9_ENST00000360584.2_Missense_Mutation_p.D428Y|SLC6A9_ENST00000357730.2_Missense_Mutation_p.D374Y|SLC6A9_ENST00000475075.2_Missense_Mutation_p.D244Y|SLC6A9_ENST00000372307.3_Missense_Mutation_p.D290Y|SLC6A9_ENST00000372306.3_Missense_Mutation_p.D355Y|SLC6A9_ENST00000537678.1_Missense_Mutation_p.D290Y NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 428 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CGGGACACATCCACGCCCAGG 0.602000 47 102 1.41504e-22 2.36936e-22 1 1 0 NLRP3 114548 broad.mit.edu 37 1 247588028 247588028 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:247588028G>C ENST00000366497.2 + 4 2063 c.1283G>C c.(1282-1284)aGt>aCt p.S428T NLRP3_ENST00000391827.2_Missense_Mutation_p.S428T|NLRP3_ENST00000366496.2_Missense_Mutation_p.S428T|NLRP3_ENST00000348069.2_Missense_Mutation_p.S428T|NLRP3_ENST00000336119.3_Missense_Mutation_p.S428T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.S428T NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 428 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) CAGATGGAGAGTGGCAAGAGC 0.587000 16 125 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20586584 20586584 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr14:20586584G>T ENST00000315543.4 + 1 1019 c.1019G>T c.(1018-1020)aGa>aTa p.R340I NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 312 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GTGAATTCTAGAGAAGATACT 0.408000 8 35 0.0477658 0.0488976 1 1 0 PUSL1 126789 broad.mit.edu 37 1 1246437 1246437 + Missense_Mutation SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:1246437T>C ENST00000379031.5 + 7 925 c.848T>C c.(847-849)cTg>cCg p.L283P NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 283 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding lung(3)|skin(1)|urinary_tract(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AAGTCAGTGCTGTACGGGAAC 0.607000 19 65 0 0 1 0 0 TRAM1 23471 broad.mit.edu 37 8 71508556 71508556 + Splice_Site SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:71508556C>A ENST00000521425.1 - 5 1205 c.168_splice c.e5-1 p.E57_splice TRAM1_ENST00000262213.2_Splice_Site_p.E143_splice|TRAM1_ENST00000536748.1_Splice_Site_p.E112_splice|TRAM1_ENST00000521049.1_Intron Q15629 TRAM1_HUMAN translocation associated membrane protein 1 143 cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 17 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) ATGTAGTTTTCCTAAGAAAGA 0.373000 65 91 1.1362e-29 2.01163e-29 1 1 0 COPG1 22820 broad.mit.edu 37 3 128976378 128976378 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr3:128976378C>G ENST00000314797.6 + 9 749 c.645C>G c.(643-645)atC>atG p.I215M NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 215 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ATAAGATGATCAGCAAGGTCA 0.532000 63 170 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196834683 196834683 + Missense_Mutation SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:196834683C>G ENST00000312428.6 - 17 2294 c.2194G>C c.(2194-2196)Gct>Cct p.A732P NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 732 Stem (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 TTATCTGCAGCTAAATCCAAC 0.299000 19 62 0 0 1 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100192084 100192084 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:100192084C>A ENST00000231461.5 - 4 830 c.520G>T c.(520-522)Gtg>Ttg p.V174L NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 174 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) AACTCCACCACAGGAGCTAGA 0.363000 17 53 2.94398e-08 3.60283e-08 1 1 0 TCL1A 8115 broad.mit.edu 37 14 96178585 96178585 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr14:96178585C>A ENST00000402399.1 - 2 398 c.269G>T c.(268-270)aGt>aTt p.S90I TCL1A_ENST00000555202.1_Missense_Mutation_p.S90I|TCL1A_ENST00000554012.1_Missense_Mutation_p.S90I|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000556450.1_Missense_Mutation_p.S90I|RP11-164H13.1_ENST00000553445.1_RNA NM_021966.2 NP_068801.1 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 90 multicellular organismal development endoplasmic reticulum|microsome haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) GCGCCAGAAACTGGAGTCTGA 0.567000 T TRA@ T-CLL 48 163 6.03219e-31 1.07682e-30 1 1 0 EVC2 132884 broad.mit.edu 37 4 5630425 5630425 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:5630425T>A ENST00000310917.2 - 12 2238 c.1507A>T c.(1507-1509)Agt>Tgt p.S503C EVC2_ENST00000344408.5_Missense_Mutation_p.S583C|EVC2_ENST00000344938.1_Missense_Mutation_p.S583C NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 583 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TACCTCTTACTAGCCTGGAAA 0.393000 28 75 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36162149 36162149 + Nonsense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:36162149G>A ENST00000303965.4 - 13 2863 c.2374C>T c.(2374-2376)Cag>Tag p.Q792* NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 792 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTATATTTCTGAGTAATAAAG 0.318000 7 25 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398282 25398282 + Missense_Mutation SNP C C A rs121913535 TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:25398282C>A ENST00000311936.3 - 2 228 c.37G>T c.(37-39)Ggc>Tgc p.G13C KRAS_ENST00000556131.1_Missense_Mutation_p.G13C|KRAS_ENST00000557334.1_Missense_Mutation_p.G13C|KRAS_ENST00000256078.4_Missense_Mutation_p.G13C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 13 G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G13C(213)|p.G13S(59)|p.G13R(43)|p.G12_G13insG(3)|p.G13N(1)|p.G13I(1)|p.G12_G13insA(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TTGCCTACGCCACCAGCTCCA 0.343000 G13C(MORCPR_LUNG)|G13C(NCIH1355_LUNG)|G13C(NCIH1734_LUNG)|G13C(TOV21G_OVARY) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 6 31 0.00448238 0.00478121 1 1 0 LCMT2 9836 broad.mit.edu 37 15 43621286 43621286 + Nonsense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr15:43621286T>A ENST00000305641.5 - 1 1517 c.1402A>T c.(1402-1404)Aag>Tag p.K468* LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Nonsense_Mutation_p.K47* NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 468 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) CGGCCAGCCTTTGTTATTGTC 0.458000 35 87 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19503169 19503169 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr5:19503169G>C ENST00000507958.1 - 13 2552 c.1562C>G c.(1561-1563)cCa>cGa p.P521R CDH18_ENST00000506372.1_Missense_Mutation_p.P521R|CDH18_ENST00000511273.1_Missense_Mutation_p.P521R|CDH18_ENST00000502796.1_Missense_Mutation_p.P521R|CDH18_ENST00000274170.4_Missense_Mutation_p.P521R|CDH18_ENST00000382275.1_Missense_Mutation_p.P521R Q13634 CAD18_HUMAN cadherin 18, type 2 521 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) GTTAAACCTTGGTCCATTGGC 0.333000 11 70 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103202357 103202357 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:103202357C>A ENST00000424685.2 - 35 5413 c.5254G>T c.(5254-5256)Gtg>Ttg p.V1752L RELN_ENST00000343529.5_Missense_Mutation_p.V1752L|RELN_ENST00000428762.1_Missense_Mutation_p.V1752L P78509 RELN_HUMAN reelin 1752 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) TCAGCCCCCACAGTGTAGTTG 0.483000 14 44 0.000422831 0.000465978 1 1 0 ZNF676 163223 broad.mit.edu 37 19 22363771 22363771 + Missense_Mutation SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:22363771C>T ENST00000397121.2 - 3 1065 c.748G>A c.(748-750)Gag>Aag p.E250K NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TAGGGTTTCTCTCCAGTATGA 0.378000 29 141 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153897454 153897454 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:153897454G>T ENST00000511601.1 + 12 3199 c.3011G>T c.(3010-3012)cGc>cTc p.R1004L FHDC1_ENST00000260008.3_Missense_Mutation_p.R1004L Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 1004 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) AAGACCTGCCGCGCCCACTCC 0.627000 20 54 1.15919e-05 1.31091e-05 1 1 0 BMPR1B 658 broad.mit.edu 37 4 96046198 96046198 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:96046198C>A ENST00000515059.1 + 8 794 c.511C>A c.(511-513)Cct>Act p.P171T BMPR1B_ENST00000440890.2_Missense_Mutation_p.P201T|BMPR1B_ENST00000264568.4_Missense_Mutation_p.P171T|BMPR1B_ENST00000394931.1_Missense_Mutation_p.P171T NM_001203.2 NP_001194.1 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 171 BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) AACTTACATTCCTCCTGGAGA 0.408000 15 55 2.32078e-09 3.00173e-09 1 1 0 ITGA10 8515 broad.mit.edu 37 1 145535896 145535896 + Missense_Mutation SNP A A G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:145535896A>G ENST00000369304.3 + 16 2259 c.2084A>G c.(2083-2085)cAa>cGa p.Q695R ITGA10_ENST00000539363.1_Missense_Mutation_p.Q552R|ITGA10_ENST00000538811.1_Missense_Mutation_p.Q564R NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 695 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGGGATCACCAATTCTGTGAG 0.532000 35 167 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23931765 23931765 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr15:23931765C>T ENST00000331837.4 - 1 685 c.600G>A c.(598-600)gtG>gtA p.V200V NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 200 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CGCGGCCCTTCACGTAGATGA 0.662000 Prader-Willi syndrome 12 27 0 0 1 0 0 CETP 1071 broad.mit.edu 37 16 57012130 57012130 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr16:57012130C>A ENST00000200676.3 + 11 1239 c.1109C>A c.(1108-1110)cCa>cAa p.P370Q CETP_ENST00000566128.1_Missense_Mutation_p.P305Q|CETP_ENST00000379780.2_Missense_Mutation_p.P310Q NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 370 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 TTTCCACGCCCAGACCAGCAA 0.542000 40 128 3.54909e-21 5.78569e-21 1 1 0 ARHGAP9 64333 broad.mit.edu 37 12 57869697 57869697 + Silent SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:57869697G>A ENST00000393797.2 - 13 1635 c.1443C>T c.(1441-1443)ggC>ggT p.G481G ARHGAP9_ENST00000356411.2_Silent_p.G410G|ARHGAP9_ENST00000393791.3_Silent_p.G410G|ARHGAP9_ENST00000424809.2_Silent_p.G410G|ARHGAP9_ENST00000550288.1_Silent_p.G489G|ARHGAP9_ENST00000430041.2_Silent_p.G226G Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 410 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) GGAACTCGTGGCCAGGGATCG 0.652000 6 19 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94040217 94040217 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:94040217G>T ENST00000297268.6 + 22 1685 c.1214G>T c.(1213-1215)cGt>cTt p.R405L NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 405 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCTGGTTCTCGTGGTCTTCCT 0.443000 HNSCC(75;0.22) 23 82 7.41877e-09 9.2369e-09 1 1 0 HADHB 3032 broad.mit.edu 37 2 26486259 26486259 + Missense_Mutation SNP A A G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:26486259A>G ENST00000317799.5 + 4 225 c.121A>G c.(121-123)Aaa>Gaa p.K41E HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000545822.1_Missense_Mutation_p.K19E|HADHB_ENST00000405867.3_Missense_Mutation_p.K41E|HADHB_ENST00000537713.1_Missense_Mutation_p.K41E NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 41 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTCCAGACCAAAACGAAGAA 0.328000 44 106 0 0 1 0 0 AMHR2 269 broad.mit.edu 37 12 53825063 53825063 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:53825063C>A ENST00000257863.4 + 11 1608 c.1528C>A c.(1528-1530)Cat>Aat p.H510N AMHR2_ENST00000379791.3_Missense_Mutation_p.H415N|AMHR2_ENST00000550311.1_3'UTR NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 510 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) TGCCTTGGCCCATCCTCAAGA 0.602000 30 91 2.24059e-21 3.66643e-21 1 1 0 WISP3 8838 broad.mit.edu 37 6 112390715 112390715 + Nonsense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr6:112390715C>A ENST00000361714.1 + 5 1056 c.1011C>A c.(1009-1011)tgC>tgA p.C337* WISP3_ENST00000368663.3_Nonsense_Mutation_p.C296*|WISP3_ENST00000604763.1_Nonsense_Mutation_p.C319*|WISP3_ENST00000230529.5_Nonsense_Mutation_p.C319*|WISP3_ENST00000409166.1_Nonsense_Mutation_p.C95*|WISP3_ENST00000368666.2_Nonsense_Mutation_p.C319* O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 319 CTCK. cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 13 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) AATTTGATTGCCCAAATGAGG 0.373000 31 46 2.85442e-18 4.51688e-18 1 1 0 TRBV19 28568 broad.mit.edu 37 7 142326802 142326802 + RNA SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:142326802G>C ENST00000390393.3 + 0 308 GTTCAGAAAGGAAGGACAGAA 0.517000 23 111 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122208526 122208526 + Missense_Mutation SNP G G A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:122208526G>A ENST00000263710.4 - 16 1875 c.1486C>T c.(1486-1488)Cat>Tat p.H496Y CLASP1_ENST00000545861.1_Missense_Mutation_p.H264Y|CLASP1_ENST00000455322.2_Missense_Mutation_p.H496Y|CLASP1_ENST00000541377.1_Missense_Mutation_p.H496Y|CLASP1_ENST00000409078.3_Missense_Mutation_p.H496Y|CLASP1_ENST00000541859.1_Missense_Mutation_p.H265Y|CLASP1_ENST00000397587.3_Missense_Mutation_p.H496Y NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 496 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) TCAGCATCATGTATTCCCTTC 0.299000 24 94 0 0 1 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89416881 89416881 + RNA SNP C C G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:89416881C>G ENST00000490686.1 - 0 329 AATCTTCAGGCTGCAGGCTGC 0.493000 51 89 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100087083 100087083 + Missense_Mutation SNP G G T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:100087083G>T ENST00000423930.1 + 4 1898 c.1739G>T c.(1738-1740)gGg>gTg p.G580V NYAP1_ENST00000454988.1_Missense_Mutation_p.G523V|NYAP1_ENST00000300179.2_Missense_Mutation_p.G580V Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 580 TGTGGTGTGGGGGCCCCATCC 0.647000 11 48 5.50884e-06 6.29581e-06 1 1 0 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Splice_Site SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:106820975C>T ENST00000228347.4 + 13 1324 c.1101_splice c.e13-1 p.L368_splice POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L368F(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTAGCTTTTATCTCT 0.274000 4 18 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175738 51175738 + Missense_Mutation SNP G G C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr16:51175738G>C ENST00000440970.1 - 2 535 c.104C>G c.(103-105)gCt>gGt p.A35G SALL1_ENST00000251020.4_Missense_Mutation_p.A132G|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 132 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GCTTTTGTTAGCAACCGGGGC 0.602000 6 76 0 0 1 0 0 ZNF788 388507 broad.mit.edu 37 19 12223934 12223934 + Silent SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:12223934T>C ENST00000339302.4 + 3 2209 c.1572T>C c.(1570-1572)caT>caC p.H524H ZNF788_ENST00000430298.2_3'UTR|ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000397759.3_Silent_p.H143H zinc finger family member 788 endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 2 GACTAACTCATATTGGAAAAA 0.378000 5 4 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3747815 3747815 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:3747815C>T ENST00000541714.2 + 19 2808 c.2346C>T c.(2344-2346)aaC>aaT p.N782N TJP3_ENST00000382008.3_Silent_p.N796N|TJP3_ENST00000587686.1_Silent_p.N801N|TJP3_ENST00000539908.2_Silent_p.N746N|TJP3_ENST00000589378.1_Silent_p.N791N|TJP3_ENST00000262968.9_Silent_p.N815N NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 796 tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) TGGAGGACAACCTAGACCTCC 0.682000 3 10 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122622812 122622812 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr12:122622812C>T ENST00000319080.6 + 13 2358 c.2226C>T c.(2224-2226)ctC>ctT p.L742L MLXIP_ENST00000538698.1_Silent_p.L349L Q9HAP2 MLXIP_HUMAN MLX interacting protein 742 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) TCGACATGCTCAACAGCCTCA 0.562000 8 24 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58598321 58598321 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:58598321C>A ENST00000240727.6 - 5 1096 c.697G>T c.(697-699)Gac>Tac p.D233Y ZSCAN18_ENST00000421612.2_Missense_Mutation_p.D98Y|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.D289Y|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.D233Y NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 233 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TCGGCAGGGTCCAGGTGGCCC 0.632000 12 42 2.32078e-09 3.00173e-09 1 1 0 RBFOX2 23543 broad.mit.edu 37 22 36205961 36205961 + Missense_Mutation SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr22:36205961T>A ENST00000405409.2 - 2 486 c.118A>T c.(118-120)Aca>Tca p.T40S RBFOX2_ENST00000359369.4_Missense_Mutation_p.T20S|RBFOX2_ENST00000416721.2_Missense_Mutation_p.T40S|RBFOX2_ENST00000449924.2_Missense_Mutation_p.T40S|RBFOX2_ENST00000414461.2_Missense_Mutation_p.T40S|RBFOX2_ENST00000397303.2_Missense_Mutation_p.T20S|RBFOX2_ENST00000262829.7_Missense_Mutation_p.T40S|RBFOX2_ENST00000438146.2_Missense_Mutation_p.T110S NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2 NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1 O43251 RFOX2_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 2 50 estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing cytoplasm|nucleus nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding endometrium(4)|large_intestine(7)|lung(7) 18 CCATACTCTGTGGGAATTCCA 0.537000 42 150 0 0 1 0 0 P2RX1 5023 broad.mit.edu 37 17 3806525 3806525 + Missense_Mutation SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:3806525C>A ENST00000225538.3 - 7 992 c.718G>T c.(718-720)Ggc>Tgc p.G240C NM_002558.2 NP_002549.1 P51575 P2RX1_HUMAN purinergic receptor P2X, ligand-gated ion channel, 1 240 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) AAGTTCTGGCCTGACTCTTGC 0.592000 12 36 9.31168e-06 1.05859e-05 1 1 0 ZNF347 84671 broad.mit.edu 37 19 53644927 53644927 + Missense_Mutation SNP C C G rs151248865 byFrequency TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:53644927C>G ENST00000452676.2 - 5 1583 c.1157G>C c.(1156-1158)cGt>cCt p.R386P ZNF347_ENST00000334197.7_Missense_Mutation_p.R385P|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R386P NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TAAGCTTGAACGAGCTCTAAA 0.408000 46 116 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77893691 77893691 + Missense_Mutation SNP G G T rs139600625 TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr18:77893691G>T ENST00000262198.4 + 4 850 c.395G>T c.(394-396)cGg>cTg p.R132L NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 132 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) GCACCTGTCCGGAAAGTCCAG 0.413000 35 70 1.61788e-16 2.49616e-16 1 1 0 OR2D2 120776 broad.mit.edu 37 11 6913672 6913672 + Silent SNP C C A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:6913672C>A ENST00000299459.2 - 1 158 c.60G>T c.(58-60)ggG>ggT p.G20G NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CGGTGTGTGGCCCATCAGAGA 0.443000 27 84 2.42023e-17 3.78819e-17 1 1 0 JAM3 83700 broad.mit.edu 37 11 134014888 134014888 + Splice_Site SNP T T A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:134014888T>A ENST00000299106.4 + 5 770 c.612_splice c.e5+1 p.L204_splice JAM3_ENST00000529443.2_Splice_Site_p.L249_splice|JAM3_ENST00000441717.3_Splice_Site_p.L153_splice|JAM3_ENST00000524969.1_3'UTR Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 204 Ig-like C2-type. angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) ACAGGCACTTTGGTAAGATCT 0.428000 16 36 0 0 1 0 0 COG3 83548 broad.mit.edu 37 13 46060665 46060665 + Silent SNP C C T TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr13:46060665C>T ENST00000349995.5 + 8 991 c.879C>T c.(877-879)ttC>ttT p.F293F NM_031431.3 NP_113619.2 Q96JB2 COG3_HUMAN component of oligomeric golgi complex 3 293 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1) 24 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) ACAATGCCTTCACATTATTTT 0.378000 27 131 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 7 189 --- --- --- --- COG2 22796 broad.mit.edu 37 1 230795269 230795291 + Frame_Shift_Del DEL ACTGAGAGATGACCTGGAGCTCT ACTGAGAGATGACCTGGAGCTCT - rs142733439 byFrequency TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr1:230795269_230795291delACTGAGAGATGACCTGGAGCTCT ENST00000366669.4 + 2 247_269 c.132_154delACTGAGAGATGACCTGGAGCTCT c.(130-156)gaacfs p.ELRDDLELY44fs COG2_ENST00000534989.1_5'UTR|COG2_ENST00000366668.3_Frame_Shift_Del_p.ELRDDLELY44fs|COG2_ENST00000535166.1_5'UTR|COG2_ENST00000494371.1_3'UTR NM_001145036.1|NM_007357.2 NP_001138508.1|NP_031383.1 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 44 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity p.L45L(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) AGCTGGAAGAACTGAGAGATGACCTGGAGCTCTACTATAAACT 0.377 15 219 --- --- --- --- MED15P9 285103 broad.mit.edu 37 2 130894016 130894016 + RNA DEL C C - TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:130894016delC ENST00000427638.1 + 0 579 NR_033903.1 CCCCCAACTGCAGCCCCAGGC 0.637 4 8 --- --- --- --- SCN3A 6328 broad.mit.edu 37 2 165970461 165970461 + Frame_Shift_Del DEL T T - TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr2:165970461delT ENST00000360093.3 - 20 4025 c.3534delA c.(3532-3534)ccfs p.P1178fs SCN3A_ENST00000409101.3_Frame_Shift_Del_p.P1129fs|SCN3A_ENST00000283254.7_Frame_Shift_Del_p.P1178fs NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1178 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) CTTGACAGAATGGAAACTTTT 0.318 40 131 --- --- --- --- PPID 5481 broad.mit.edu 37 4 159642523 159642524 + Frame_Shift_Del DEL GA GA - TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr4:159642523_159642524delGA ENST00000307720.3 - 2 304_305 c.197_198delTC c.(196-198)cfs p.L66fs NM_005038.2 NP_005029.1 Q08752 PPID_HUMAN peptidylprolyl isomerase D 66 PPIase cyclophilin-type. protein folding cytoplasm|intermediate filament cytoskeleton cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0159) CTTTGAAATGGAGAGGTTTCCC 0.391 14 66 --- --- --- --- MDC1 9656 broad.mit.edu 37 6 30675822 30675825 + Frame_Shift_Del DEL TCTG TCTG - TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr6:30675822_30675825delTCTG ENST00000376406.3 - 8 3178_3181 c.2531_2534delCAGA c.(2530-2535)atfs p.TD844fs MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 844 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TCCTGTCACATCTGTCTGTCTTTC 0.456 Other conserved DNA damage response genes 75 348 --- --- --- --- ZNF800 168850 broad.mit.edu 37 7 127014927 127014928 + Frame_Shift_Ins INS - - AA rs141805822 by1000genomes TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr7:127014927_127014928insAA ENST00000393313.1 - 5 1053_1054 c.462_463insTT c.(460-465)ataagtfs p.S155fs ZNF800_ENST00000265827.3_Frame_Shift_Ins_p.S155fs|ZNF800_ENST00000393312.1_Frame_Shift_Ins_p.S155fs Q2TB10 ZN800_HUMAN zinc finger protein 800 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TCTGTGACTTCAATAGGATTAT 0.371 36 116 --- --- --- --- MSR1 4481 broad.mit.edu 37 8 16026001 16026001 + Frame_Shift_Del DEL C C - TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:16026001delC ENST00000350896.3 - 4 793 c.596delG c.(595-597)gcfs p.G199fs MSR1_ENST00000445506.2_Frame_Shift_Del_p.G217fs|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Frame_Shift_Del_p.G199fs|MSR1_ENST00000355282.2_Frame_Shift_Del_p.G199fs|MSR1_ENST00000381998.4_Frame_Shift_Del_p.G199fs NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 199 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity p.G199D(2) haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TTGGATTTTGCCATTCAGATT 0.413 30 103 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 10 164 --- --- --- --- SLC7A13 157724 broad.mit.edu 37 8 87242454 87242454 + Frame_Shift_Del DEL C C - TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr8:87242454delC ENST00000297524.3 - 1 156 c.53delG c.(52-54)gcfs p.G18fs SLC7A13_ENST00000419776.2_Frame_Shift_Del_p.G18fs|SLC7A13_ENST00000520624.1_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 18 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 AAAACTTGTGCCCCACCAATA 0.378 37 127 --- --- --- --- ITIH2 3698 broad.mit.edu 37 10 7776943 7776965 + Frame_Shift_Del DEL TCTCTAGACCACCACATTGTGAC TCTCTAGACCACCACATTGTGAC - rs143765273 TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:7776943_7776965delTCTCTAGACCACCACATTGTGAC ENST00000358415.4 + 15 2012_2034 c.1846_1868delTCTCTAGACCACCACATTGTGAC c.(1846-1869)tfs p.SLDHHIVT616fs ITIH2_ENST00000379587.4_Frame_Shift_Del_p.SLDHHIVT605fs NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 616 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CCTGCAGATGTCTCTAGACCACCACATTGTGACTCCGCTGACC 0.565 10 149 --- --- --- --- KIF20B 9585 broad.mit.edu 37 10 91498335 91498337 + In_Frame_Del DEL AAG AAG - TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr10:91498335_91498337delAAG ENST00000416354.1 + 20 3899_3901 c.3827_3829delAAG c.(3826-3831)aaa>a p.KE1276del KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_In_Frame_Del_p.KE1246del|KIF20B_ENST00000260753.4_In_Frame_Del_p.KE1206del|KIF20B_ENST00000371728.3_In_Frame_Del_p.KE1246del Q96Q89 KI20B_HUMAN kinesin family member 20B 1246 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 CTTCAATTAAAAGAAGAAGAAGA 0.276 9 62 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 4 6 --- --- --- --- EIF3CL 728689 broad.mit.edu 37 16 28403353 28403355 + In_Frame_Del DEL TCC TCC - TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr16:28403353_28403355delTCC ENST00000398943.3 - 9 1021_1023 c.885_887delGGA c.(883-888)gac>ga p.ED295del EIF3CL_ENST00000398944.3_In_Frame_Del_p.ED295del|EIF3CL_ENST00000380876.4_In_Frame_Del_p.ED295del eukaryotic translation initiation factor 3, subunit C-like GCCTTCATTGTCCTCCTCCTCCT 0.547 3 6 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7751762 7751763 + Frame_Shift_Ins INS - - G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr17:7751762_7751763insG ENST00000254846.5 + 11 2545_2546 c.2156_2157insG c.(2155-2157)ggcfs p.G719fs KDM6B_ENST00000448097.2_Frame_Shift_Ins_p.G719fs NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 719 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GAAGCAGGCGTGGCCCCCCAAC 0.584 7 161 --- --- --- --- SMARCA4 6597 broad.mit.edu 37 19 11106903 11106903 + Frame_Shift_Del DEL G G - TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:11106903delG ENST00000358026.2 + 10 1892 c.1608delG c.(1606-1608)gafs p.E536fs SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.E536fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.E536fs|SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.E536fs|SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.E536fs|SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.E536fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.E536fs|SMARCA4_ENST00000429416.3_Frame_Shift_Del_p.E536fs|SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.E536fs NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 536 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) AAGATGAGGAGGGGTACCGCA 0.567 """F, N, Mis""" NSCLC 66 116 --- --- --- --- MYBPC2 4606 broad.mit.edu 37 19 50963366 50963367 + Frame_Shift_Ins INS - - G TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:50963366_50963367insG ENST00000357701.5 + 24 2912_2913 c.2861_2862insG c.(2860-2862)cgcfs p.R954fs NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 954 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) GTGGAGTGGCAGGCCCCCAAAG 0.550 8 7 --- --- --- --- PEG3 5178 broad.mit.edu 37 19 57326214 57326214 + Frame_Shift_Del DEL C C - TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chr19:57326214delC ENST00000326441.9 - 10 3959 c.3596delG c.(3595-3597)gtfs p.G1199fs ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.G1075fs|PEG3_ENST00000593695.1_Frame_Shift_Del_p.G1073fs|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.G1199fs|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1199 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) GGCAATAAAACCATCATCACA 0.478 43 120 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 10 7 --- --- --- --- NONO 4841 broad.mit.edu 37 X 70511784 70511787 + Frame_Shift_Del DEL TTCA TTCA - TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b63102c-8d78-4d50-b8cb-21114333de7c 4e7f3670-9963-44ad-8c4b-f0c07720656c g.chrX:70511784_70511787delTTCA ENST00000535149.1 + 2 686_689 c.43_46delTTCA c.(43-48)ttfs p.FI15fs NONO_ENST00000276079.8_Frame_Shift_Del_p.FI104fs|NONO_ENST00000373841.1_Frame_Shift_Del_p.FI104fs|NONO_ENST00000373856.3_Frame_Shift_Del_p.FI104fs NM_001145410.1 NP_001138882.1 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 104 DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) AGGCGAAGTCTTCATTCATAAGGA 0.441 T TFE3 papillary renal cancer 51 89 --- --- --- ---