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 ENDOD1 23052 broad.mit.edu 37 11 94862342 94862342 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:94862342G>A ENST00000278505.4 + 2 1220 c.1102G>A c.(1102-1104)Gtg>Atg p.V368M NM_015036.2 NP_055851.1 O94919 ENDD1_HUMAN endonuclease domain containing 1 368 extracellular region endonuclease activity|metal ion binding|nucleic acid binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) TACCAAGCAGGTGATTAATGG 0.443000 10 67 0 0 0.000673444 0 0 SLC8A3 6547 broad.mit.edu 37 14 70522526 70522526 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:70522526G>A ENST00000381269.2 - 4 2646 c.1893C>T c.(1891-1893)ctC>ctT p.L631L SLC8A3_ENST00000357887.3_Silent_p.L632L|SLC8A3_ENST00000528359.1_Silent_p.L632L|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000534137.1_Silent_p.L631L NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 631 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GAGATAACAGGAGCGCTGTTT 0.413000 13 33 0 0 0.000308642 0 0 UNC79 57578 broad.mit.edu 37 14 94041526 94041526 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:94041526G>A ENST00000553484.1 + 17 2347 c.2193G>A c.(2191-2193)ggG>ggA p.G731G UNC79_ENST00000256339.4_Silent_p.G554G|UNC79_ENST00000555664.1_Silent_p.G731G|UNC79_ENST00000393151.2_Silent_p.G731G Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 731 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AACTGGCAGGGAACCTTGCAT 0.383000 17 25 0 0 0.00121646 0 0 MYO3A 53904 broad.mit.edu 37 10 26241128 26241128 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:26241128G>A ENST00000265944.5 + 3 255 c.89G>A c.(88-90)gGa>gAa p.G30E MYO3A_ENST00000543632.1_Missense_Mutation_p.G30E|MYO3A_ENST00000376301.1_Missense_Mutation_p.G30E|MYO3A_ENST00000376302.1_Missense_Mutation_p.G30E NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 30 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ATTGGCAAAGGAACTTATGGG 0.323000 19 33 0 0 0.000958276 0 0 CCR3 1232 broad.mit.edu 37 3 46307563 46307563 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:46307563G>A ENST00000357422.2 + 4 1457 c.914G>A c.(913-915)gGa>gAa p.G305E CCR3_ENST00000545097.1_Missense_Mutation_p.G326E|CCR3_ENST00000395942.2_Missense_Mutation_p.G305E|CCR3_ENST00000541018.1_Missense_Mutation_p.G305E|CCR3_ENST00000395940.2_Missense_Mutation_p.G305E P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 305 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) GCCTTTGTTGGAGAGAGGTTC 0.552000 8 23 0 0 0.000673444 0 0 RP11-998D10.1 0 broad.mit.edu 37 14 21501931 21501931 + Nonsense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:21501931G>A ENST00000531638.1 + 2 369 c.267G>A c.(265-267)tgG>tgA p.W89* NDRG2_ENST00000403829.3_Intron|RNASE13_ENST00000382951.3_3'UTR GTTGGAAATGGAGACAGCTGG 0.527000 15 29 0 0 0.000219431 0 0 SCCPDH 51097 broad.mit.edu 37 1 246887838 246887838 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:246887838C>T ENST00000366510.3 + 1 490 c.114C>T c.(112-114)tcC>tcT p.S38S NM_016002.2 NP_057086.2 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 38 SSRLPWA -> TQPALG (in Ref. 1; AAD34044). midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1) 17 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) AGCGGAGCTCCCGCCTGCCCT 0.736000 8 11 0 0 0.000274275 0 0 CD5L 922 broad.mit.edu 37 1 157805893 157805893 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:157805893C>T ENST00000368174.4 - 3 204 c.108G>A c.(106-108)cgG>cgA p.R36R CD5L_ENST00000484609.1_5'UTR NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 36 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCACCTCCACCCGCCCTTCAC 0.632000 21 58 0 0 0.00152264 0 0 MARCO 8685 broad.mit.edu 37 2 119729107 119729107 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:119729107C>T ENST00000541757.1 + 5 603 c.223C>T c.(223-225)Cca>Tca p.P75S MARCO_ENST00000327097.4_Missense_Mutation_p.P153S Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 153 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 ACAAGGCGCCCCAGGTAGGTT 0.582000 15 60 0 0 0.000958276 0 0 CRB2 286204 broad.mit.edu 37 9 126125453 126125453 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:126125453C>T ENST00000373631.3 + 2 405 c.404C>T c.(403-405)cCc>cTc p.P135L CRB2_ENST00000359999.3_Missense_Mutation_p.P135L NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 135 EGF-like 2; calcium-binding (Potential). extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 TGCCATTGCCCCCTTGGCTAT 0.622000 4 14 0 0 0.00024832 0 0 HSD17B12 51144 broad.mit.edu 37 11 43819886 43819886 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:43819886G>A ENST00000278353.4 + 4 419 c.300G>A c.(298-300)gtG>gtA p.V100V HSD17B12_ENST00000529261.1_3'UTR NM_016142.2 NP_057226.1 Q53GQ0 DHB12_HUMAN hydroxysteroid (17-beta) dehydrogenase 12 100 long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity endometrium(2)|large_intestine(4)|lung(4) 10 AATTCAAAGTGGAGACAAGAA 0.363000 33 37 0 0 0.000339439 0 0 UNC13D 201294 broad.mit.edu 37 17 73827358 73827358 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:73827358G>A ENST00000207549.4 - 26 2898 c.2519C>T c.(2518-2520)tCc>tTc p.S840F UNC13D_ENST00000412096.2_Missense_Mutation_p.S840F NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 840 MHD2. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GGAAGCCAGGGATGAGCTGCG 0.637000 Familial Hemophagocytic Lymphohistiocytosis 8 41 0 0 0.000442599 0 0 VAT1L 57687 broad.mit.edu 37 16 77918616 77918616 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:77918616C>T ENST00000302536.2 + 7 1147 c.994C>T c.(994-996)Cgg>Tgg p.R332W NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 332 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 GGGCCTCATTCGGGGAGTGGT 0.512000 12 14 0 0 0.00136819 0 0 ZFP2 80108 broad.mit.edu 37 5 178358836 178358836 + Silent SNP T T C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:178358836T>C ENST00000361362.2 + 5 1052 c.522T>C c.(520-522)acT>acC p.T174T ZFP2_ENST00000520301.1_Silent_p.T174T|ZFP2_ENST00000523286.1_Silent_p.T174T|ZFP2_ENST00000503510.2_Silent_p.T174T NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TGAATCTTACTGTCCATCAAC 0.403000 18 11 0 0 0.00152264 0 0 DAAM2 23500 broad.mit.edu 37 6 39847153 39847153 + Missense_Mutation SNP C C T rs150676991 by1000genomes TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:39847153C>T ENST00000538976.1 + 14 1927 c.1745C>T c.(1744-1746)cCt>cTt p.P582L DAAM2_ENST00000398904.2_Missense_Mutation_p.P582L|DAAM2_ENST00000274867.4_Missense_Mutation_p.P582L NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 582 FH1.|Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) CTGCCCCTCCCTCAGGACCCC 0.652000 4 26 0 0 0.000602214 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962567 69962567 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:69962567C>T ENST00000305231.7 + 1 375 c.329C>T c.(328-330)tCa>tTa p.S110L UGT2B7_ENST00000508661.1_Missense_Mutation_p.S110L|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 110 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TTATATTTTTCACAAGTACAG 0.303000 14 31 0 0 0.000219431 0 0 SERPINA1 5265 broad.mit.edu 37 14 94849309 94849309 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:94849309G>A ENST00000448921.1 - 4 838 c.266C>T c.(265-267)tCc>tTc p.S89F SERPINA1_ENST00000402629.1_Missense_Mutation_p.S89F|SERPINA1_ENST00000449399.3_Missense_Mutation_p.S89F|SERPINA1_ENST00000393088.4_Missense_Mutation_p.S89F|SERPINA1_ENST00000355814.4_Missense_Mutation_p.S89F|SERPINA1_ENST00000404814.4_Missense_Mutation_p.S89F|SERPINA1_ENST00000393087.4_Missense_Mutation_p.S89F|SERPINA1_ENST00000440909.1_Missense_Mutation_p.S89F|SERPINA1_ENST00000437397.1_Missense_Mutation_p.S89F NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 89 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) GGTCCCCAGGGAGAGCATTGC 0.547000 32 72 0 0 0.000953801 0 0 ELL2 22936 broad.mit.edu 37 5 95242469 95242469 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:95242469G>A ENST00000237853.4 - 5 848 c.499C>T c.(499-501)Cgg>Tgg p.R167W ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Intron NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 167 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) GGTGCTTTCCGAATTTGCACT 0.423000 34 32 0 0 0.000374591 0 0 PARP9 83666 broad.mit.edu 37 3 122259595 122259595 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:122259595C>T ENST00000462315.1 - 8 1782 c.1489G>A c.(1489-1491)Gca>Aca p.A497T PARP9_ENST00000360356.2_Missense_Mutation_p.A532T|PARP9_ENST00000471785.1_Missense_Mutation_p.A497T|PARP9_ENST00000477522.2_Missense_Mutation_p.A497T|PARP9_ENST00000492382.1_Missense_Mutation_p.A77T NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 532 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding p.A532T(1) endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) TGGATCCATGCGTGGGCCTCA 0.448000 26 84 0 0 0.00106085 0 0 CNOT1 23019 broad.mit.edu 37 16 58577803 58577803 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:58577803G>A ENST00000317147.5 - 31 4474 c.4142C>T c.(4141-4143)cCc>cTc p.P1381L CNOT1_ENST00000441024.2_Missense_Mutation_p.P1381L|CNOT1_ENST00000245138.4_Missense_Mutation_p.P232L|CNOT1_ENST00000569240.1_Missense_Mutation_p.P1376L NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1381 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CTGAAACAAGGGAATCTGGGG 0.458000 25 19 0 0 0.00106085 0 0 ENGASE 64772 broad.mit.edu 37 17 77082081 77082081 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:77082081C>T ENST00000579016.1 + 14 1882 c.1882C>T c.(1882-1884)Cgc>Tgc p.R628C NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 628 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 CTCTCACATCCGCTGGCAGCC 0.672000 9 31 0 0 0.000274275 0 0 KCNN1 3780 broad.mit.edu 37 19 18085944 18085944 + RNA SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:18085944C>T ENST00000601725.1 + 0 81 ATCAGCCTCTCCACGGCCATC 0.597000 7 44 0 0 0.000274275 0 0 MBL2 4153 broad.mit.edu 37 10 54528199 54528199 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:54528199C>T ENST00000373968.3 - 4 509 c.445G>A c.(445-447)Gaa>Aaa p.E149K MBL2_ENST00000493043.1_5'UTR NM_000242.2 NP_000233.1 P11226 MBL2_HUMAN mannose-binding lectin (protein C) 2, soluble 149 C-type lectin. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 TTCACTTTTTCAAAGGTCATT 0.473000 28 79 0 0 0.00106085 0 0 GCFC2 6936 broad.mit.edu 37 2 75929487 75929487 + Nonsense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:75929487G>A ENST00000321027.3 - 3 590 c.457C>T c.(457-459)Caa>Taa p.Q153* GCFC2_ENST00000470503.1_Nonsense_Mutation_p.Q153*|GCFC2_ENST00000541687.1_Nonsense_Mutation_p.Q153*|GCFC2_ENST00000409857.3_Nonsense_Mutation_p.Q153* NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 153 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TAGTCATCTTGGGCCCTGGCC 0.458000 28 37 0 0 0.000878237 0 0 IRX1 79192 broad.mit.edu 37 5 3599467 3599467 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:3599467C>T ENST00000302006.3 + 2 457 c.405C>T c.(403-405)acC>acT p.T135T CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 135 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 AGAACGCCACCCGCGAGAGCA 0.652000 16 24 0 0 0.000566183 0 0 PIGU 128869 broad.mit.edu 37 20 33162970 33162970 + Missense_Mutation SNP A A G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:33162970A>G ENST00000374820.2 - 10 1092 c.1072T>C c.(1072-1074)Tat>Cat p.Y358H PIGU_ENST00000452740.2_Missense_Mutation_p.Y378H Q9H490 PIGU_HUMAN phosphatidylinositol glycan anchor biosynthesis, class U 378 attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade GPI-anchor transamidase complex|plasma membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 9 CTTCCTGCATAAATCCAGAGG 0.507000 33 68 0 0 0.000339439 0 0 PSEN1 5663 broad.mit.edu 37 14 73685906 73685906 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:73685906C>T ENST00000324501.5 + 12 1585 c.1313C>T c.(1312-1314)tCc>tTc p.S438F PSEN1_ENST00000261970.3_Missense_Mutation_p.S380F|PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000557511.1_Missense_Mutation_p.S380F|PSEN1_ENST00000406768.1_Missense_Mutation_p.S346F|PSEN1_ENST00000394164.1_Missense_Mutation_p.S434F|PSEN1_ENST00000357710.4_Missense_Mutation_p.S434F NM_000021.3|NM_007318.2 NP_000012.1|NP_015557.2 P49768 PSN1_HUMAN presenilin 1 438 Required for interaction with CTNNB1. amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) CTTCCAATCTCCATCACCTTT 0.393000 89 151 0 0 0.000781405 0 0 PDE2A 5138 broad.mit.edu 37 11 72292005 72292005 + Silent SNP G G A rs146299609 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:72292005G>A ENST00000334456.5 - 24 2303 c.2058C>T c.(2056-2058)atC>atT p.I686I PDE2A_ENST00000444035.2_Silent_p.I677I|PDE2A_ENST00000418754.2_Silent_p.I571I|PDE2A_ENST00000376450.3_Silent_p.I430I|PDE2A_ENST00000540345.1_Silent_p.I677I|PDE2A_ENST00000544570.1_Silent_p.I679I NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 686 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) ACAAGGCAAAGATCTCGATGT 0.512000 36 143 0 0 0.00148497 0 0 UBBP4 23666 broad.mit.edu 37 17 21730947 21730947 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:21730947C>T ENST00000584755.1 + 2 646 c.249C>T c.(247-249)acC>acT p.T83T UBBP4_ENST00000578713.1_Silent_p.T83T|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 TCGTGAAGACCCTGACCGGCA 0.552000 8 33 0 0 0.000151284 0 0 NTRK1 4914 broad.mit.edu 37 1 156843583 156843583 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:156843583G>A ENST00000368196.3 + 8 1129 c.1009G>A c.(1009-1011)Gcc>Acc p.A337T NTRK1_ENST00000524377.1_Missense_Mutation_p.A337T|NTRK1_ENST00000358660.3_Missense_Mutation_p.A337T|NTRK1_ENST00000392302.2_Missense_Mutation_p.A307T NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 337 Ig-like C2-type 2. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GGAGCCGGCAGCCAATGAGAC 0.632000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 9 11 0 0 0.00136819 0 0 MYH3 4621 broad.mit.edu 37 17 10532921 10532921 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:10532921G>A ENST00000583535.1 - 40 5876 c.5789C>T c.(5788-5790)tCc>tTc p.S1930F MYH3_ENST00000226209.7_Missense_Mutation_p.S1930F NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1930 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CACCCTGCTGGAGGTGAAGTC 0.562000 19 55 0 0 0.000229342 0 0 C22orf29 79680 broad.mit.edu 37 22 19838874 19838874 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:19838874G>A ENST00000405640.1 - 2 1579 c.911C>T c.(910-912)tCg>tTg p.S304L C22orf29_ENST00000407472.1_Missense_Mutation_p.S304L|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.S304L|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000405009.1_Intron Q7L3V2 CV029_HUMAN chromosome 22 open reading frame 29 304 Pro-rich. NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) AGCTGACTCCGACAGTCTAGG 0.587000 15 39 0 0 0.000308642 0 0 CSMD2 114784 broad.mit.edu 37 1 34087804 34087804 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:34087804G>A ENST00000373381.4 - 37 5966 c.5790C>T c.(5788-5790)atC>atT p.I1930I CSMD2_ENST00000373380.1_Silent_p.I803I|CSMD2_ENST00000373377.1_Silent_p.I29I|CSMD2_ENST00000373388.2_Silent_p.I29I NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1890 Sushi 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAGATACGCTGATATCTGAGT 0.517000 58 51 0 0 0.000781405 0 0 CNKSR2 22866 broad.mit.edu 37 X 21613508 21613508 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:21613508G>A ENST00000425654.2 + 16 2361 c.1881G>A c.(1879-1881)atG>atA p.M627I CNKSR2_ENST00000543067.1_Missense_Mutation_p.M608I|CNKSR2_ENST00000279451.4_Missense_Mutation_p.M657I|CNKSR2_ENST00000379510.3_Missense_Mutation_p.M657I NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 657 PH. 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 TTGATGATATGAACAGGTAAA 0.323000 32 12 0 0 0.000491102 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84902464 84902464 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:84902464C>T ENST00000262424.5 + 8 1085 c.861C>T c.(859-861)gtC>gtT p.V287V CRISPLD2_ENST00000564567.1_Silent_p.V287V|CRISPLD2_ENST00000567845.1_Silent_p.V286V NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 287 LCCL 1. extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 TAGCCCAAGTCGTCAGATGTG 0.547000 6 39 0 0 8.12818e-05 0 0 DHRS9 10170 broad.mit.edu 37 2 169938402 169938402 + Translation_Start_Site SNP A A T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:169938402A>T ENST00000421653.1 + 0 395 DHRS9_ENST00000602501.1_Missense_Mutation_p.K104I|DHRS9_ENST00000357546.2_Missense_Mutation_p.K104I|DHRS9_ENST00000432060.2_Missense_Mutation_p.K164I|DHRS9_ENST00000412271.1_Missense_Mutation_p.K104I|DHRS9_ENST00000428522.1_Missense_Mutation_p.K104I|DHRS9_ENST00000436483.2_Missense_Mutation_p.K104I|DHRS9_ENST00000327239.4_Missense_Mutation_p.K104I Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 GTTGGGGAGAAAGGTGAGAGA 0.488000 10 14 0 0 0.000978159 0 0 ANPEP 290 broad.mit.edu 37 15 90328627 90328627 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:90328627C>T ENST00000300060.6 - 21 3170 c.2857G>A c.(2857-2859)Gag>Aag p.E953K NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 953 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TCCTTGTTCTCCTTCACCCAC 0.572000 16 108 0 0 0.00074312 0 0 COL21A1 81578 broad.mit.edu 37 6 56044434 56044434 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:56044434C>T ENST00000244728.5 - 3 979 c.582G>A c.(580-582)gtG>gtA p.V194V COL21A1_ENST00000535941.1_Silent_p.V194V|COL21A1_ENST00000370819.1_Silent_p.V194V NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 194 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TATAGTCTTCCACATAAAACA 0.343000 10 38 0 0 0.000442599 0 0 STARD13 90627 broad.mit.edu 37 13 33700324 33700324 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr13:33700324G>A ENST00000336934.5 - 7 2092 c.1976C>T c.(1975-1977)gCt>gTt p.A659V STARD13_ENST00000255486.4_Missense_Mutation_p.A651V|STARD13_ENST00000399365.3_Missense_Mutation_p.A541V NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 659 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GCCAAAGACAGCCTTGTCTTT 0.493000 70 84 0 0 0.000781405 0 0 ZRANB3 84083 broad.mit.edu 37 2 135982014 135982014 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:135982014C>T ENST00000401392.1 - 15 2438 c.2226G>A c.(2224-2226)cgG>cgA p.R742R ZRANB3_ENST00000264159.6_Silent_p.R744R|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Silent_p.R742R Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 744 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) AGATGTGAATCCGGTCAGTAT 0.358000 14 38 0 0 0.000422831 0 0 CA5A 763 broad.mit.edu 37 16 87938439 87938439 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:87938439C>T ENST00000309893.2 - 3 477 c.412G>A c.(412-414)Gag>Aag p.E138K NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 138 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) GAGCCCCCCTCGTTCACTGCT 0.547000 15 50 0 0 0.000308642 0 0 SOAT1 6646 broad.mit.edu 37 1 179316752 179316752 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:179316752C>T ENST00000367619.3 + 12 1278 c.1135C>T c.(1135-1137)Ctt>Ttt p.L379F SOAT1_ENST00000539888.1_Missense_Mutation_p.L314F|SOAT1_ENST00000535686.1_Missense_Mutation_p.L115F|SOAT1_ENST00000540564.1_Missense_Mutation_p.L321F NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 379 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) GATTCTCTTCCTTACTTTTTT 0.333000 42 55 0 0 0.000509022 0 0 TRAF1 7185 broad.mit.edu 37 9 123675942 123675942 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:123675942C>T ENST00000373887.3 - 5 2814 c.369G>A c.(367-369)atG>atA p.M123I TRAF1_ENST00000540010.1_Missense_Mutation_p.M123I|TRAF1_ENST00000546084.1_Start_Codon_SNP_p.M1I NM_005658.4 NP_005649.1 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 123 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2) 22 TCCACTGTTTCATGAACCCCA 0.612000 22 25 0 0 0.000295444 0 0 BTAF1 9044 broad.mit.edu 37 10 93740304 93740304 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:93740304C>T ENST00000265990.6 + 15 2052 c.1744C>T c.(1744-1746)Ctt>Ttt p.L582F BTAF1_ENST00000471217.1_3'UTR NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 582 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) AATTCTGGACCTTATTCACAA 0.353000 16 38 0 0 0.000566183 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457651 110457651 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:110457651C>T ENST00000378402.5 + 38 5657 c.5553C>T c.(5551-5553)atC>atT p.I1851I NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1851 IPT/TIG 11. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CACTGGTGATCACAGGAAATG 0.488000 HNSCC(38;0.096) 8 23 0 0 0.000442599 0 0 ABCC8 6833 broad.mit.edu 37 11 17452441 17452441 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:17452441G>A ENST00000302539.4 - 12 1862 c.1737C>T c.(1735-1737)tcC>tcT p.S579S ABCC8_ENST00000528202.1_5'UTR|ABCC8_ENST00000389817.3_Silent_p.S579S NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 579 ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGAGGGAGAGGGAGGCAAAGG 0.607000 91 348 0 0 0.000781405 0 0 ELP4 26610 broad.mit.edu 37 11 31531334 31531334 + Translation_Start_Site SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:31531334G>A ENST00000395934.2 + 1 10 c.3G>A c.(1-3)atG>atA p.M1I ELP4_ENST00000379163.5_Start_Codon_SNP_p.M1I|ELP4_ENST00000350638.5_Start_Codon_SNP_p.M1I Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 1 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) GCTCTAAGATGGCGGCAGTGG 0.592000 6 33 0 0 0.00116845 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12888042 12888042 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:12888042C>T ENST00000379672.5 + 20 2434 c.2134C>T c.(2134-2136)Ccc>Tcc p.P712S ARHGAP44_ENST00000340825.3_Missense_Mutation_p.P706S|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.P712S NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 712 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TGCAGCTCCTCCCCTGGCCTC 0.647000 12 12 0 0 0.00136819 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356631 37356631 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:37356631C>T ENST00000217420.1 + 2 1190 c.927C>T c.(925-927)tcC>tcT p.S309S NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 309 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TCCCCATCTCCATTGGCATCA 0.537000 18 45 0 0 0.00121646 0 0 PHC2 1912 broad.mit.edu 37 1 33797949 33797949 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:33797949G>A ENST00000257118.5 - 10 1868 c.1815C>T c.(1813-1815)ttC>ttT p.F605F PHC2_ENST00000431992.1_Silent_p.F576F|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373416.1_Silent_p.F70F|PHC2_ENST00000373418.3_Silent_p.F70F|PHC2_ENST00000419414.2_Silent_p.F606F|PHC2_ENST00000373422.3_Silent_p.F211F NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 605 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TCTCAGGCAGGAACCCCTGTG 0.582000 39 50 0 0 0.00148497 0 0 SLC22A9 114571 broad.mit.edu 37 11 63143144 63143144 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:63143144C>T ENST00000310969.4 + 4 971 c.703C>T c.(703-705)Cat>Tat p.H235Y SLC22A9_ENST00000279178.3_Silent_p.L286L Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 0 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTCGGTGGCTCATTATCAACA 0.448000 9 49 0 0 0.000274275 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130342971 130342971 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:130342971C>T ENST00000299164.2 + 8 2108 c.2108C>T c.(2107-2109)cCc>cTc p.P703L NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 703 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GTGGCCATCCCCGCAGGCGCC 0.592000 15 54 0 0 0.000422831 0 0 RP1L1 94137 broad.mit.edu 37 8 10469143 10469143 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:10469143C>T ENST00000382483.3 - 4 2688 c.2465G>A c.(2464-2466)cGa>cAa p.R822Q NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 822 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GCAGTGGCTTCGGTGGGGGCC 0.701000 14 21 0 0 0.000219431 0 0 PLA2R1 22925 broad.mit.edu 37 2 160798644 160798644 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:160798644C>T ENST00000283243.7 - 29 4377 c.4171G>A c.(4171-4173)Gaa>Aaa p.E1391K PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1391 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GTACCTTTTTCTGGCAGCGCC 0.308000 20 45 0 0 0.000586117 0 0 EPHA3 2042 broad.mit.edu 37 3 89390106 89390106 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:89390106G>A ENST00000336596.2 + 4 1080 c.855G>A c.(853-855)atG>atA p.M285I EPHA3_ENST00000452448.2_Missense_Mutation_p.M285I|EPHA3_ENST00000494014.1_Missense_Mutation_p.M285I NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 285 Cys-rich. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ATGGTAATATGAAGTGTGCTA 0.393000 TSP Lung(6;0.00050) 22 83 0 0 0.00047179 0 0 CSMD1 64478 broad.mit.edu 37 8 2823369 2823369 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:2823369C>T ENST00000520002.1 - 60 9766 c.9211G>A c.(9211-9213)Gaa>Aaa p.E3071K CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.E3071K|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.E3070K|CSMD1_ENST00000400186.3_Intron Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3071 Sushi 24. 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) GTGACTGCTTCCATGACATAG 0.493000 6 11 0 0 0.000274275 0 0 MUC16 94025 broad.mit.edu 37 19 9061972 9061972 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:9061972C>T ENST00000397910.4 - 3 25677 c.25474G>A c.(25474-25476)Gaa>Aaa p.E8492K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8494 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGGCACTTTCTGCTGATTCT 0.498000 43 118 0 0 0.000589545 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139107 90139107 + RNA SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:90139107G>A ENST00000492446.1 + 0 30 GACACAGCATGGACATGAGGG 0.537000 19 136 0 0 0.00152264 0 0 SNX29 92017 broad.mit.edu 37 16 12618696 12618696 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:12618696C>T ENST00000566228.1 + 20 2385 c.2316C>T c.(2314-2316)ttC>ttT p.F772F SNX29_ENST00000323433.4_Silent_p.F387F|SNX29_ENST00000306030.3_Silent_p.F387F NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 387 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 TGCCCTTCTTCGTGTAAGTAC 0.572000 17 75 0 0 0.000422831 0 0 GRIN3A 116443 broad.mit.edu 37 9 104448967 104448967 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:104448967C>T ENST00000361820.3 - 2 1815 c.1215G>A c.(1213-1215)atG>atA p.M405I NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 405 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CTGGTTGGATCATGGTGGCTG 0.463000 53 20 0 0 0.000781405 0 0 PIPOX 51268 broad.mit.edu 37 17 27383231 27383231 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:27383231C>T ENST00000323372.4 + 8 1407 c.1081C>T c.(1081-1083)Ctg>Ttg p.L361L PIPOX_ENST00000583215.1_3'UTR NM_016518.2 NP_057602.2 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 361 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) GGGGAAGATCCTGTATGAATT 0.522000 18 46 0 0 0.000958276 0 0 PKD1L2 114780 broad.mit.edu 37 16 81183453 81183453 + RNA SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:81183453C>T ENST00000533478.1 - 0 2650 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCAGATGTGTCCATCCTGGAA 0.592000 6 24 0 0 8.12818e-05 0 0 ZNF417 147687 broad.mit.edu 37 19 58420358 58420358 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:58420358G>A ENST00000312026.5 - 3 1452 c.1288C>T c.(1288-1290)Cac>Tac p.H430Y ZNF417_ENST00000595559.1_Missense_Mutation_p.H429Y|ZNF417_ENST00000536263.1_Missense_Mutation_p.H231Y|CTD-2583A14.9_ENST00000602124.1_Intron NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 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;0.0151) TCCCCAGTGTGAAGTCTCTGG 0.448000 14 33 0 0 0.000566183 0 0 DPEP2 64174 broad.mit.edu 37 16 68021586 68021586 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:68021586G>A ENST00000412757.2 - 12 1949 c.1284C>T c.(1282-1284)tcC>tcT p.S428S DPEP2_ENST00000393847.1_Silent_p.S428S|DPEP2_ENST00000572888.1_Silent_p.S428S Q9H4A9 DPEP2_HUMAN dipeptidase 2 428 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) GTGAGAGGTCGGAGTGGCAGG 0.547000 28 37 0 0 0.00178596 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768012 77768012 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:77768012G>A ENST00000521891.2 + 10 9303 c.8855G>A c.(8854-8856)cGa>cAa p.R2952Q ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2907Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2907Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2926Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2907 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R2936Q(1) 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) AGTGACTACCGAACTCCAACC 0.448000 HNSCC(33;0.089) 8 46 0 0 0.000442599 0 0 DIP2C 22982 broad.mit.edu 37 10 409149 409149 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:409149G>A ENST00000280886.6 - 21 2667 c.2580C>T c.(2578-2580)agC>agT p.S860S DIP2C_ENST00000540204.1_Silent_p.S181S|DIP2C_ENST00000381496.3_3'UTR NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 860 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCAGCACACGGCTCATCCACT 0.587000 4 9 0 0 0.000602214 0 0 NLRP12 91662 broad.mit.edu 37 19 54314203 54314203 + Missense_Mutation SNP C C A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:54314203C>A ENST00000324134.6 - 3 878 c.710G>T c.(709-711)gGg>gTg p.G237V NLRP12_ENST00000535162.1_Missense_Mutation_p.G237V|NLRP12_ENST00000391773.1_Missense_Mutation_p.G237V|NLRP12_ENST00000391772.1_Missense_Mutation_p.G237V|NLRP12_ENST00000391775.3_Missense_Mutation_p.G237V|NLRP12_ENST00000351894.4_Missense_Mutation_p.G237V|NLRP12_ENST00000345770.5_Missense_Mutation_p.G237V|NLRP12_ENST00000354278.3_Missense_Mutation_p.G237V NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 237 NACHT. 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 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) GAAGAGCTTCCCGTCCGCCCA 0.582000 12 28 5.50884e-06 3.11092e-05 0.00136819 1 0 KCNC2 3747 broad.mit.edu 37 12 75444313 75444313 + Missense_Mutation SNP C C A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:75444313C>A ENST00000549446.1 - 3 2152 c.1472G>T c.(1471-1473)aGg>aTg p.R491M KCNC2_ENST00000393288.2_Missense_Mutation_p.R491M|KCNC2_ENST00000550433.1_Missense_Mutation_p.R491M|KCNC2_ENST00000341669.3_Missense_Mutation_p.R491M|KCNC2_ENST00000298972.1_Missense_Mutation_p.R491M|KCNC2_ENST00000540018.1_Missense_Mutation_p.R491M|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000350228.2_Missense_Mutation_p.R491M|KCNC2_ENST00000548513.1_Missense_Mutation_p.R491M NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 491 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 CTTTCTTTTCCTTGGAAGTTT 0.453000 14 68 1.5842e-08 9.01567e-08 0.000151284 1 0 FAM193A 8603 broad.mit.edu 37 4 2701826 2701826 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:2701826C>T ENST00000324666.5 + 17 3405 c.3054C>T c.(3052-3054)ctC>ctT p.L1018L FAM193A_ENST00000545951.1_Silent_p.L1018L|FAM193A_ENST00000502458.1_Silent_p.L1040L|FAM193A_ENST00000382839.3_Silent_p.L1018L|FAM193A_ENST00000505311.1_Silent_p.L1018L NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 1018 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 AATTTCTCCTCCCCAAGGAGG 0.547000 32 41 0 0 0.000409698 0 0 FYB 2533 broad.mit.edu 37 5 39203057 39203057 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:39203057C>T ENST00000351578.6 - 2 196 c.6G>A c.(4-6)gcG>gcA p.A2A FYB_ENST00000515010.1_Silent_p.A2A|FYB_ENST00000512982.1_Silent_p.A2A|FYB_ENST00000505428.1_Silent_p.A2A|FYB_ENST00000540520.1_Silent_p.A12A NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 2 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGTTATATTTCGCCATGAGGG 0.433000 22 56 0 0 0.000878237 0 0 EVI5L 115704 broad.mit.edu 37 19 7913942 7913942 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:7913942C>T ENST00000270530.4 + 4 659 c.463C>T c.(463-465)Cgc>Tgc p.R155C EVI5L_ENST00000538904.2_Missense_Mutation_p.R155C NM_145245.3 NP_660288.1 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like 155 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 GAAGCTGATCCGCAGGGACAT 0.617000 7 7 0 0 8.12818e-05 0 0 IL36RN 26525 broad.mit.edu 37 2 113819753 113819753 + Silent SNP C C A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:113819753C>A ENST00000393200.2 + 4 329 c.168C>A c.(166-168)ccC>ccA p.P56P IL36RN_ENST00000346807.3_Silent_p.P56P NM_012275.2 NP_036407.1 Q9UBH0 I36RA_HUMAN interleukin 36 receptor antagonist 56 extracellular space cytokine activity|interleukin-1 receptor antagonist activity large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 GCCTGTCCCCCGTCATCCTGG 0.617000 5 45 0.00116845 0.00648841 0.00116845 1 0 BRINP2 57795 broad.mit.edu 37 1 177226401 177226401 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:177226401G>A ENST00000361539.4 + 4 862 c.550G>A c.(550-552)Ggg>Agg p.G184R FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 184 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CGGGGGCAGTGGGAACAGCAC 0.552000 26 38 0 0 0.00106085 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947403 57947403 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:57947403G>A ENST00000335397.3 + 3 803 c.487G>A c.(487-489)Gcc>Acc p.A163T NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) GACAGTCTCAGCCTTCACTCT 0.522000 17 21 0 0 0.000422831 0 0 ENG 2022 broad.mit.edu 37 9 130587562 130587562 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:130587562C>T ENST00000344849.3 - 6 1044 c.764G>A c.(763-765)gGt>gAt p.G255D ENG_ENST00000373203.4_Missense_Mutation_p.G255D P17813 EGLN_HUMAN endoglin 255 artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 GTAGGGGGGACCCTGCAGGAT 0.632000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 15 14 0 0 0.000566183 0 0 ICAM5 7087 broad.mit.edu 37 19 10405083 10405083 + Missense_Mutation SNP C C A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:10405083C>A ENST00000221980.4 + 9 2060 c.1997C>A c.(1996-1998)cCg>cAg p.P666Q NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 666 Ig-like C2-type 8. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GCAGCGCCACCGGAGATGGAT 0.692000 6 47 3.59834e-05 0.000202579 0.00116845 1 0 EPHA6 285220 broad.mit.edu 37 3 96706372 96706372 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:96706372G>A ENST00000389672.5 + 3 687 c.649G>A c.(649-651)Gaa>Aaa p.E217K EPHA6_ENST00000542517.1_Missense_Mutation_p.E123K|EPHA6_ENST00000470610.2_Missense_Mutation_p.E217K NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 122 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GACTTGCAAAGAAACATTTAA 0.398000 24 73 0 0 0.000295444 0 0 C11orf70 85016 broad.mit.edu 37 11 101946721 101946721 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:101946721G>A ENST00000434758.2 + 5 581 c.553G>A c.(553-555)Gat>Aat p.D185N C11orf70_ENST00000534360.1_3'UTR|C11orf70_ENST00000526781.1_Missense_Mutation_p.D185N NM_032930.2 NP_116319.2 Q9BRQ4 CK070_HUMAN chromosome 11 open reading frame 70 185 breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) TCAATATGAGGATGTGATTAG 0.358000 34 54 0 0 0.000692331 0 0 ZSCAN23 222696 broad.mit.edu 37 6 28403789 28403789 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:28403789C>T ENST00000289788.4 - 2 400 c.255G>A c.(253-255)gaG>gaA p.E85E ZSCAN23_ENST00000486481.1_Intron NM_001012455.1 NP_001012458.1 Q3MJ62 ZSC23_HUMAN zinc finger and SCAN domain containing 23 85 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|prostate(1)|stomach(2) 4 CTAGGATCTGCTCCTTGGTGT 0.607000 6 31 0 0 0.000442599 0 0 ZNF835 90485 broad.mit.edu 37 19 57175219 57175219 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:57175219C>T ENST00000537055.2 - 2 1579 c.1348G>A c.(1348-1350)Gag>Aag p.E450K NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 TTGCCGCACTCGGGGCAGGTG 0.677000 8 26 0 0 0.000274275 0 0 GLYATL1 92292 broad.mit.edu 37 11 58714580 58714580 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:58714580C>T ENST00000317391.4 + 4 360 c.20C>T c.(19-21)tCc>tTc p.S7F GLYATL1_ENST00000300079.5_Intron|RP11-142C4.6_ENST00000533954.1_RNA NM_001220494.1 NP_001207423.1 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 7 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) CTGAATAACTCCCATAAGCTG 0.473000 12 43 0 0 0.000151284 0 0 ABAT 18 broad.mit.edu 37 16 8829605 8829605 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:8829605C>T ENST00000396600.2 + 2 947 c.9C>T c.(7-9)tcC>tcT p.S3S ABAT_ENST00000268251.8_Silent_p.S3S|ABAT_ENST00000569156.1_Silent_p.S3S|ABAT_ENST00000567812.1_Silent_p.S18S|ABAT_ENST00000425191.2_Silent_p.S3S NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 3 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) TCATGGCCTCCATGTTGCTCG 0.592000 4 9 0 0 0.00116845 0 0 NMBR 4829 broad.mit.edu 37 6 142409749 142409749 + Missense_Mutation SNP T T G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:142409749T>G ENST00000258042.1 - 1 187 c.47A>C c.(46-48)aAt>aCt p.N16T RP11-137J7.2_ENST00000454401.1_RNA NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 16 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) ACCGCTCTCATTCGCGCCGGT 0.622000 6 15 0 0 0.000157383 0 0 GABRG2 2566 broad.mit.edu 37 5 161569245 161569245 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:161569245C>T ENST00000356592.3 + 7 1305 c.845C>T c.(844-846)cCc>cTc p.P282L GABRG2_ENST00000361925.4_Missense_Mutation_p.P282L|GABRG2_ENST00000393933.4_Missense_Mutation_p.P187L|GABRG2_ENST00000414552.2_Missense_Mutation_p.P322L NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 282 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ACCTATATCCCCTGCACACTC 0.438000 63 41 0 0 0.000781405 0 0 PRKG1 5592 broad.mit.edu 37 10 54041970 54041970 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:54041970G>A ENST00000373980.4 + 14 2020 c.1603G>A c.(1603-1605)Ggg>Agg p.G535R PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.G508R|PRKG1_ENST00000401604.2_Missense_Mutation_p.G520R|PRKG1_ENST00000373975.2_Missense_Mutation_p.G238R|PRKG1-AS1_ENST00000426785.2_RNA NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 520 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) GACTTTTTGTGGGACTCCAGA 0.403000 19 37 0 0 0.000958276 0 0 ZNF679 168417 broad.mit.edu 37 7 63726529 63726529 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:63726529G>A ENST00000421025.1 + 5 787 c.518G>A c.(517-519)aGa>aAa p.R173K ZNF679_ENST00000255746.4_Missense_Mutation_p.R173K NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 173 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 AATTCCAATAGACATAAGACA 0.303000 5 6 0 0 0.000602214 0 0 WISP1 8840 broad.mit.edu 37 8 134239797 134239797 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:134239797G>A ENST00000250160.6 + 5 1054 c.948G>A c.(946-948)aaG>aaA p.K316K WISP1_ENST00000519433.1_Silent_p.K71K|WISP1_ENST00000377863.2_Silent_p.K144K|WISP1_ENST00000517423.1_3'UTR|WISP1_ENST00000220856.6_Silent_p.K229K NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 316 CTCK. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) ACAAGTCTAAGACTATCGACG 0.517000 37 52 0 0 0.000374591 0 0 LRRK2 120892 broad.mit.edu 37 12 40704392 40704392 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:40704392G>A ENST00000298910.7 + 31 4535 c.4477G>A c.(4477-4479)Gaa>Aaa p.E1493K NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1493 Roc. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TGCCACCGAGGAATCTGATGC 0.428000 72 222 0 0 0.000781405 0 0 SIRPB2 284759 broad.mit.edu 37 20 1460549 1460549 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:1460549C>T ENST00000359801.3 - 2 283 c.247G>A c.(247-249)Gaa>Aaa p.E83K SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000537284.1_Intron NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 83 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTATAAATTTCCTGTTGGTCC 0.463000 24 56 0 0 0.000375601 0 0 ROS1 6098 broad.mit.edu 37 6 117662729 117662729 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:117662729C>T ENST00000368508.3 - 29 4934 c.4736G>A c.(4735-4737)aGa>aAa p.R1579K GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R1573K NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1579 Fibronectin type-III 7. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GTGAGATTCTCTCCAAGATAT 0.428000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 13 29 0 0 0.000219431 0 0 MYH8 4626 broad.mit.edu 37 17 10304912 10304912 + Missense_Mutation SNP A A G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:10304912A>G ENST00000403437.2 - 23 2973 c.2879T>C c.(2878-2880)cTt>cCt p.L960P CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 960 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 TGTCAGCTCAAGGTCATCAAT 0.443000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 108 187 0 0 0.000781405 0 0 NDUFB5 4711 broad.mit.edu 37 3 179341806 179341806 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:179341806C>T ENST00000493866.1 + 4 417 c.392C>T c.(391-393)cCg>cTg p.P131L NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000259037.3_Missense_Mutation_p.P183L|NDUFB5_ENST00000472629.1_Missense_Mutation_p.P171L NM_001199957.1 NP_001186886.1 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa 183 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|lung(6)|skin(1) 8 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) GATCATTCTCCGAAAGCAACT 0.333000 14 29 0 0 0.000308642 0 0 IGHJ2 28481 broad.mit.edu 37 14 106331449 106331449 + RNA SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:106331449G>A ENST00000390564.2 - 0 11 CCCAGAGATCGAAGTACCAGT 0.612000 9 9 0 0 0.000978159 0 0 PRKCG 5582 broad.mit.edu 37 19 54403571 54403571 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:54403571C>T ENST00000263431.3 + 12 1648 c.1366C>T c.(1366-1368)Cat>Tat p.H456Y PRKCG_ENST00000540413.1_Missense_Mutation_p.H456Y|PRKCG_ENST00000542049.1_Missense_Mutation_p.H343Y NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 456 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TAAGGAGCCCCATGCAGCGTG 0.592000 8 22 0 0 0.000157383 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995196 140995196 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:140995196G>A ENST00000285879.4 + 4 2292 c.2006G>A c.(2005-2007)gGg>gAg p.G669E MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 669 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CCTCCTGAGGGGATGCACTCC 0.572000 HNSCC(15;0.026) 62 20 0 0 0.000781405 0 0 SI 6476 broad.mit.edu 37 3 164733006 164733006 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:164733006C>T ENST00000264382.3 - 33 3966 c.3904G>A c.(3904-3906)Gga>Aga p.G1302R NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1302 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTTTCATTTCCTGAAATTGCT 0.348000 HNSCC(35;0.089) 6 21 0 0 8.12818e-05 0 0 DEFB115 245929 broad.mit.edu 37 20 29847269 29847269 + Nonsense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:29847269G>A ENST00000400552.1 + 2 101 c.101G>A c.(100-102)tGg>tAg p.W34* NM_001037730.1 NP_001032819.1 Q30KQ5 DB115_HUMAN defensin, beta 115 34 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) ATAGATGGATGGATCAGAAGG 0.313000 11 56 0 0 0.000151284 0 0 PCDH15 65217 broad.mit.edu 37 10 55582729 55582729 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:55582729C>T ENST00000361849.3 - 34 5157 c.4763G>A c.(4762-4764)aGg>aAg p.R1588K PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1563K|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1546K|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1517K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.R1586K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1583K|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1586 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGGAACTTTCCTCATCAGCCT 0.463000 HNSCC(58;0.16) 18 46 0 0 0.000295444 0 0 TERT 7015 broad.mit.edu 37 5 1293435 1293435 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:1293435C>T ENST00000310581.5 - 2 1623 c.1566G>A c.(1564-1566)agG>agA p.R522R TERT_ENST00000296820.5_Silent_p.R522R|TERT_ENST00000508104.2_Silent_p.R522R|TERT_ENST00000334602.6_Silent_p.R522R NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 522 RNA-interacting domain 2.|Required for oligomerization. R -> K (associated with acute myeloid leukemia). anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CACCTGGGCTCCTGCGCAGCC 0.642000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 11 44 0 0 0.000978159 0 0 LLGL1 3996 broad.mit.edu 37 17 18140988 18140988 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:18140988C>T ENST00000316843.4 + 14 1901 c.1805C>T c.(1804-1806)aCc>aTc p.T602I NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 602 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) GCTGCTGTAACCGCTGTCACA 0.672000 12 22 0 0 0.000978159 0 0 IGHV3-13 28449 broad.mit.edu 37 14 106586249 106586249 + RNA SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:106586249G>A ENST00000390602.2 - 0 315 CACGGAGCCTGGATAGTATGT 0.517000 27 50 0 0 0.00106085 0 0 F8 2157 broad.mit.edu 37 X 154157677 154157677 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:154157677G>A ENST00000360256.4 - 14 4588 c.4388C>T c.(4387-4389)tCt>tTt p.S1463F NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1463 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AATGGCTAAAGAAAGGTTATT 0.418000 34 7 0 0 0.000953801 0 0 CHIT1 1118 broad.mit.edu 37 1 203192347 203192347 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:203192347C>T ENST00000367229.1 - 6 555 c.521G>A c.(520-522)gGg>gAg p.G174E CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Missense_Mutation_p.G165E|CHIT1_ENST00000255427.3_Missense_Mutation_p.G155E NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 174 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 GCGTTCCTTCCCTGAGGTCTG 0.602000 35 76 0 0 0.000814825 0 0 NLRP1 22861 broad.mit.edu 37 17 5445200 5445200 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:5445200C>T ENST00000345221.3 - 6 3230 c.2676G>A c.(2674-2676)ccG>ccA p.P892P NLRP1_ENST00000572272.1_Silent_p.P892P|NLRP1_ENST00000269280.4_Silent_p.P892P|NLRP1_ENST00000354411.3_Silent_p.P892P|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Silent_p.P892P|NLRP1_ENST00000262467.5_Silent_p.P892P NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 892 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GCTTGCAGCTCGGCTGTCTCA 0.587000 16 39 0 0 0.00074312 0 0 PCGF6 84108 broad.mit.edu 37 10 105104827 105104827 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:105104827G>A ENST00000369847.3 - 6 803 c.736C>T c.(736-738)Cgt>Tgt p.R246C PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Intron NM_001011663.1 NP_001011663.1 Q9BYE7 PCGF6_HUMAN polycomb group ring finger 6 246 negative regulation of transcription, DNA-dependent PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3) 8 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205) GGTGGAATACGAAACACTGAT 0.318000 13 54 0 0 0.000422831 0 0 NLRP10 338322 broad.mit.edu 37 11 7984855 7984855 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:7984855G>A ENST00000328600.2 - 1 349 c.188C>T c.(187-189)tCa>tTa p.S63L NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 63 DAPIN. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCCATACTTTGAAATCAGTAA 0.517000 16 51 0 0 0.00121646 0 0 MYH1 4619 broad.mit.edu 37 17 10400637 10400637 + Missense_Mutation SNP C C T rs139013228 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:10400637C>T ENST00000226207.5 - 32 4592 c.4498G>A c.(4498-4500)Gaa>Aaa p.E1500K CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1500 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.E1500K(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TTCAAGGTTTCAAGTTGGTCT 0.328000 32 54 0 0 0.00111076 0 0 ACVR2A 92 broad.mit.edu 37 2 148657386 148657386 + Missense_Mutation SNP A A T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:148657386A>T ENST00000241416.7 + 4 1083 c.447A>T c.(445-447)ttA>ttT p.L149F ACVR2A_ENST00000404590.1_Missense_Mutation_p.L149F|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Missense_Mutation_p.L41F NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 149 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) CACTTATGTTAATTGCGGGGA 0.443000 71 115 0 0 0.000781405 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407513 1407513 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:1407513G>A ENST00000381524.3 + 5 507 c.321G>A c.(319-321)caG>caA p.Q107Q CSF2RA_ENST00000355805.2_Silent_p.Q107Q|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381529.3_Silent_p.Q107Q|CSF2RA_ENST00000381509.3_Silent_p.Q107Q|CSF2RA_ENST00000432318.2_Silent_p.Q107Q|CSF2RA_ENST00000361536.3_Silent_p.Q107Q|CSF2RA_ENST00000417535.2_Silent_p.Q107Q|CSF2RA_ENST00000355432.3_Silent_p.Q107Q|CSF2RA_ENST00000381500.1_Silent_p.Q107Q P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 107 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GATTTCAACAGAAACTGCTTT 0.453000 96 91 0 0 0.000781405 0 0 ACACA 31 broad.mit.edu 37 17 35620751 35620751 + Missense_Mutation SNP G G C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:35620751G>C ENST00000353139.5 - 11 1647 c.1166C>G c.(1165-1167)gCc>gGc p.A389G ACACA_ENST00000360679.3_Missense_Mutation_p.A294G|ACACA_ENST00000335166.5_Missense_Mutation_p.A274G|ACACA_ENST00000394406.2_Missense_Mutation_p.A352G NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 352 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) AGATTGTTTGGCTAGTCTCAT 0.398000 32 36 0 0 0.000692331 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2307182 2307182 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:2307182G>A ENST00000290974.2 - 8 1224 c.885C>T c.(883-885)ccC>ccT p.P295P ZFYVE28_ENST00000511071.1_Silent_p.P265P|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Silent_p.P225P NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 295 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CTGCGCGGATGGGGAACTCCA 0.627000 8 39 0 0 0.000274275 0 0 DNAH5 1767 broad.mit.edu 37 5 13823393 13823393 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:13823393C>T ENST00000265104.4 - 40 6770 c.6666G>A c.(6664-6666)ctG>ctA p.L2222L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2222 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) TTGCTGCTTCCAGTTCAGGGT 0.413000 Kartagener syndrome 27 104 0 0 0.00106085 0 0 FAM104A 84923 broad.mit.edu 37 17 71228278 71228278 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:71228278C>T ENST00000405159.3 - 1 232 c.168G>A c.(166-168)gcG>gcA p.A56A FAM104A_ENST00000581110.1_Silent_p.A56A|FAM104A_ENST00000403627.3_Silent_p.A56A|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000583024.1_Silent_p.A56A NM_001098832.1 NP_001092302.1 Q969W3 F104A_HUMAN family with sequence similarity 104, member A 56 endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 LUSC - Lung squamous cell carcinoma(166;0.197) TACGCGGCGCCGCTCCGCGAA 0.701000 8 20 0 0 0.000442599 0 0 MAP3K4 4216 broad.mit.edu 37 6 161470199 161470199 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:161470199C>T ENST00000392142.4 + 3 1043 c.895C>T c.(895-897)Ctt>Ttt p.L299F MAP3K4_ENST00000366920.2_Missense_Mutation_p.L299F|MAP3K4_ENST00000366919.2_Missense_Mutation_p.L299F|MAP3K4_ENST00000348824.7_Missense_Mutation_p.L299F NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 299 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TAATGAAATCCTTACTTTCAA 0.443000 16 33 0 0 0.000308642 0 0 NELL1 4745 broad.mit.edu 37 11 20869158 20869158 + Missense_Mutation SNP G G T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:20869158G>T ENST00000298925.5 + 5 602 c.449G>T c.(448-450)aGg>aTg p.R150M NELL1_ENST00000532434.1_Missense_Mutation_p.R122M|NELL1_ENST00000357134.5_Missense_Mutation_p.R122M|NELL1_ENST00000325319.5_Intron Q92832 NELL1_HUMAN NEL-like 1 (chicken) 122 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AGTGGCCTGAGGGATGAGATT 0.448000 6 21 0.000442599 0.00247653 0.000442599 1 0 NRG1 3084 broad.mit.edu 37 8 32585487 32585487 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:32585487G>A ENST00000341377.5 + 6 1040 c.523G>A c.(523-525)Ggg>Agg p.G175R NRG1_ENST00000520407.1_Missense_Mutation_p.G356R|NRG1_ENST00000287840.5_Missense_Mutation_p.G175R|NRG1_ENST00000521670.1_Missense_Mutation_p.G175R|NRG1_ENST00000287842.3_Missense_Mutation_p.G175R|NRG1_ENST00000519301.1_Missense_Mutation_p.G120R|NRG1_ENST00000338921.4_Missense_Mutation_p.G175R|NRG1_ENST00000287845.5_Missense_Mutation_p.G141R|NRG1_ENST00000523079.1_Missense_Mutation_p.G175R|NRG1_ENST00000520502.2_Missense_Mutation_p.G230R|NRG1_ENST00000539990.1_Missense_Mutation_p.G21R|NRG1_ENST00000405005.2_Missense_Mutation_p.G175R|NRG1_ENST00000356819.4_Missense_Mutation_p.G175R Q02297 NRG1_HUMAN neuregulin 1 175 Ser/Thr-rich. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) ATCCACCACTGGGACAAGCCA 0.428000 43 53 0 0 0.000781405 0 0 ESYT3 83850 broad.mit.edu 37 3 138179482 138179482 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:138179482C>T ENST00000389567.4 + 7 954 c.768C>T c.(766-768)acC>acT p.T256T ESYT3_ENST00000289135.4_Silent_p.T256T NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 256 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 CTGGCCTGACCAACCTGCTGG 0.602000 41 136 0 0 0.000680045 0 0 OR11G2 390439 broad.mit.edu 37 14 20665797 20665797 + Silent SNP C C T rs138212036 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:20665797C>T ENST00000357366.3 + 1 303 c.303C>T c.(301-303)ctC>ctT p.L101L NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) ACATCCTGCTCGCCAACTTCT 0.522000 9 58 0 0 0.000442599 0 0 E2F8 79733 broad.mit.edu 37 11 19247144 19247144 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:19247144G>A ENST00000527884.1 - 12 2277 c.2045C>T c.(2044-2046)tCa>tTa p.S682L E2F8_ENST00000250024.4_Missense_Mutation_p.S682L|E2F8_ENST00000529188.1_5'UTR|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 682 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GAGTTCAGATGATGTCACTGG 0.453000 28 39 0 0 0.000409698 0 0 ZEB1 6935 broad.mit.edu 37 10 31810034 31810034 + Missense_Mutation SNP A A T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:31810034A>T ENST00000446923.2 + 7 2114 c.1723A>T c.(1723-1725)Aac>Tac p.N575Y ZEB1_ENST00000560721.2_Missense_Mutation_p.N571Y|ZEB1_ENST00000361642.5_Missense_Mutation_p.N592Y|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.N591Y|ZEB1_ENST00000542815.3_Missense_Mutation_p.N524Y NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 591 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) ACCTTTAAAGAACCTCTTGTC 0.458000 8 41 0 0 0.000274275 0 0 COL4A5 1287 broad.mit.edu 37 X 107829912 107829912 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:107829912C>T ENST00000328300.6 + 19 1344 c.1100C>T c.(1099-1101)cCt>cTt p.P367L COL4A5_ENST00000361603.2_Missense_Mutation_p.P367L NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 367 Triple-helical region. Missing (in APSX; juvenile type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CCTGGGTTGCCTGGAGAAAAA 0.413000 Alport syndrome with Diffuse Leiomyomatosis 43 27 0 0 0.000509022 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90499972 90499972 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:90499972C>T ENST00000325643.5 + 4 636 c.570C>T c.(568-570)tcC>tcT p.S190S NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CCAGCTTGTCCCCACCAGCTC 0.627000 26 24 0 0 0.00106085 0 0 RXFP2 122042 broad.mit.edu 37 13 32376445 32376445 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr13:32376445C>T ENST00000298386.2 + 18 2239 c.2168C>T c.(2167-2169)tCt>tTt p.S723F RXFP2_ENST00000380314.1_Missense_Mutation_p.S699F NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 723 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) AAAAGTTTATCTACATCCATT 0.353000 50 197 0 0 0.000781405 0 0 OR10H5 284433 broad.mit.edu 37 19 15905589 15905589 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:15905589C>T ENST00000308940.8 + 1 829 c.731C>T c.(730-732)tCt>tTt p.S244F NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 ACCTGTGCCTCTCACCTCACT 0.552000 14 18 0 0 0.000295444 0 0 SLC6A1 6529 broad.mit.edu 37 3 11078619 11078619 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:11078619G>A ENST00000287766.4 + 16 2188 c.1767G>A c.(1765-1767)gcG>gcA p.A589A SLC6A1_ENST00000536032.1_Silent_p.A411A NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 589 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) AGCCCCAGGCGGGCAGCTCCA 0.642000 10 37 0 0 0.000151284 0 0 TMOD1 7111 broad.mit.edu 37 9 100361935 100361935 + Silent SNP G G T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:100361935G>T ENST00000395211.2 + 10 1171 c.1035G>T c.(1033-1035)gcG>gcT p.A345A TMOD1_ENST00000259365.3_Silent_p.A345A|TMOD1_ENST00000375175.1_Silent_p.A218A NM_001166116.1 NP_001159588.1 P28289 TMOD1_HUMAN tropomodulin 1 345 muscle filament sliding cytosol actin binding 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) GGAGGCTTGCGGACCTGACTG 0.522000 OREG0019346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 45 0.000602214 0.00335428 0.000602214 1 0 SCN11A 11280 broad.mit.edu 37 3 38991652 38991652 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:38991652C>T ENST00000450244.1 - 1 400 c.202G>A c.(202-204)Gac>Aac p.D68N SCN11A_ENST00000302328.3_Missense_Mutation_p.D68N|SCN11A_ENST00000444237.2_Missense_Mutation_p.D68N|SCN11A_ENST00000456224.3_Missense_Mutation_p.D68N Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 68 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CGAGGAATGTCGCCATAGAGC 0.542000 22 70 0 0 0.000229342 0 0 FAT4 79633 broad.mit.edu 37 4 126336328 126336328 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:126336328C>T ENST00000394329.3 + 5 6223 c.6210C>T c.(6208-6210)ttC>ttT p.F2070F FAT4_ENST00000335110.5_Silent_p.F368F NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2070 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTGTTGTTTTCAAAGCTCAAG 0.393000 53 78 0 0 0.000781405 0 0 C19orf33 64073 broad.mit.edu 37 19 38795318 38795318 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:38795318G>A ENST00000591889.1 + 5 455 c.455G>A c.(454-456)gGa>gAa p.G152E C19orf33_ENST00000588605.1_Silent_p.R84R|C19orf33_ENST00000301246.5_Missense_Mutation_p.D65N TTCGGACACGGATGTGAAGGT 0.692000 11 24 0 0 0.000219431 0 0 OBSCN 84033 broad.mit.edu 37 1 228559341 228559341 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:228559341C>T ENST00000570156.2 + 105 23807 c.23733C>T c.(23731-23733)acC>acT p.T7911T OBSCN_ENST00000422127.1_Silent_p.T6954T|OBSCN_ENST00000366707.4_Silent_p.T4588T NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6954 Protein kinase 2. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCTCTGGCACCCACTTGGCCC 0.701000 7 10 0 0 0.000157383 0 0 SLC17A5 26503 broad.mit.edu 37 6 74351495 74351495 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:74351495G>A ENST00000355773.5 - 3 712 c.444C>T c.(442-444)gtC>gtT p.V148V SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Silent_p.V148V NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 148 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACAGGGTGAGGACAGCAGTGC 0.453000 33 65 0 0 0.000409698 0 0 LILRA2 11027 broad.mit.edu 37 19 55085818 55085818 + Nonsense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:55085818C>T ENST00000251377.3 + 4 254 c.121C>T c.(121-123)Cag>Tag p.Q41* LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Nonsense_Mutation_p.Q41*|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Nonsense_Mutation_p.Q41*|LILRA2_ENST00000391737.1_Nonsense_Mutation_p.Q29*|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_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) TGTGATCATCCAGGGAAGTCC 0.537000 22 38 0 0 0.00047179 0 0 FOCAD 54914 broad.mit.edu 37 9 20990133 20990133 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:20990133C>T ENST00000380249.1 + 44 5380 c.5016C>T c.(5014-5016)ttC>ttT p.F1672F FOCAD_ENST00000338382.6_Silent_p.F1672F|FOCAD_ENST00000605086.1_Silent_p.F1108F NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1672 integral to membrane binding CTTTGGACTTCTTCTTGCTGA 0.478000 40 21 0 0 0.000781405 0 0 IKBKE 9641 broad.mit.edu 37 1 206653840 206653840 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:206653840C>T ENST00000367120.3 + 13 1764 c.1391C>T c.(1390-1392)tCc>tTc p.S464F IKBKE_ENST00000462698.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.S379F NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 464 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) GCAAGGACATCCCTCCTCTAC 0.617000 9 12 0 0 0.000274275 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906490 13906490 + Silent SNP G G A rs142203984 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:13906490G>A ENST00000279593.3 - 3 980 c.771C>T c.(769-771)atC>atT p.I257I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 257 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.I257I(2) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GACTGGGCACGATCCACGTGT 0.532000 40 41 0 0 0.000589545 0 0 AGO1 26523 broad.mit.edu 37 1 36358768 36358768 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:36358768C>T ENST00000373204.4 + 4 614 c.401C>T c.(400-402)gCc>gTc p.A134V AGO1_ENST00000373206.1_Missense_Mutation_p.A59V NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 AAGTGGCTAGCCATTGTGAGC 0.557000 14 12 0 0 0.000219431 0 0 GHRHR 2692 broad.mit.edu 37 7 31011632 31011632 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:31011632C>T ENST00000409904.3 + 3 585 c.327C>T c.(325-327)atC>atT p.I109I GHRHR_ENST00000326139.2_Silent_p.I173I|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_5'UTR Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 173 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) CCACTTTTATCCTCAAGGCGG 0.567000 38 43 0 0 0.00148497 0 0 SLC36A2 153201 broad.mit.edu 37 5 150704867 150704867 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:150704867G>A ENST00000335244.4 - 8 1119 c.990C>T c.(988-990)agC>agT p.S330S SLC36A2_ENST00000521967.1_Silent_p.S330S|SLC36A2_ENST00000450886.1_Silent_p.S54S NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 330 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGGTTAAGGCTTATGCTGG 0.537000 9 5 0 0 0.000274275 0 0 SLC35G2 80723 broad.mit.edu 37 3 136574014 136574014 + Missense_Mutation SNP A A T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:136574014A>T ENST00000446465.2 + 2 1340 c.712A>T c.(712-714)Atc>Ttc p.I238F RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.I238F|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA NM_025246.2 NP_079522.2 Q8TBE7 TMM22_HUMAN solute carrier family 35, member G2 238 DUF6 1. Golgi apparatus|integral to membrane TCTTGTCATGATCCCAAACAT 0.423000 18 46 0 0 0.000958276 0 0 TMC5 79838 broad.mit.edu 37 16 19468037 19468037 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:19468037C>T ENST00000219821.5 + 1 266 c.9C>T c.(7-9)tcC>tcT p.S3S TMC5_ENST00000541464.1_Intron|TMC5_ENST00000561503.1_5'UTR|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000564959.1_Silent_p.S3S NM_024780.4 NP_079056.2 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 0 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AGATGCTGTCCGATGACCACG 0.512000 24 24 0 0 0.000720815 0 0 WWC1 23286 broad.mit.edu 37 5 167850762 167850762 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:167850762C>T ENST00000265293.4 + 11 2001 c.1499C>T c.(1498-1500)aCc>aTc p.T500I WWC1_ENST00000521089.1_Missense_Mutation_p.T500I NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 500 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TGCATCACCACCATCCACGAG 0.637000 33 21 0 0 0.00178596 0 0 RIN1 9610 broad.mit.edu 37 11 66103267 66103267 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:66103267G>A ENST00000311320.4 - 3 474 c.348C>T c.(346-348)ttC>ttT p.F116F RIN1_ENST00000530056.1_Silent_p.F11F|RIN1_ENST00000424433.2_Silent_p.F11F|RP11-867G23.12_ENST00000526655.1_RNA NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 116 SH2. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 GGCTGGAGACGAAGGAGGGGC 0.637000 11 13 0 0 0.000978159 0 0 TEKT1 83659 broad.mit.edu 37 17 6718550 6718550 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:6718550G>A ENST00000338694.2 - 5 690 c.561C>T c.(559-561)atC>atT p.I187I TEKT1_ENST00000535086.1_Silent_p.I41I NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 187 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.I187I(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) GCGAGAAGCAGATATCATCTA 0.488000 40 86 0 0 0.000509022 0 0 HCN4 10021 broad.mit.edu 37 15 73624501 73624501 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:73624501C>T ENST00000261917.3 - 3 2335 c.1342G>A c.(1342-1344)Gac>Aac p.D448N NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 448 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) ACCCAGCAGTCGTCAGGGAAG 0.622000 34 28 0 0 0.00148497 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808424 18808424 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:18808424C>T ENST00000400664.1 + 1 1001 c.949C>T c.(949-951)Cca>Tca p.P317S NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 317 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GACTGAGGTTCCATCCCCTAG 0.647000 12 11 0 0 0.00136819 0 0 CHST12 55501 broad.mit.edu 37 7 2473051 2473051 + Silent SNP C C T rs147486579 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:2473051C>T ENST00000258711.6 + 2 912 c.777C>T c.(775-777)ttC>ttT p.F259F NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 259 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) GCAGCAAGTTCGAGCTGGAGA 0.632000 42 56 0 0 0.000509022 0 0 TBC1D4 9882 broad.mit.edu 37 13 75861125 75861125 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr13:75861125G>A ENST00000377636.3 - 21 4046 c.3700C>T c.(3700-3702)Ctg>Ttg p.L1234L TBC1D4_ENST00000377625.2_Silent_p.L1171L|TBC1D4_ENST00000431480.2_Silent_p.L1226L|TBC1D4_ENST00000425511.1_Silent_p.L398L NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1234 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) AGATTTTCCAGGTTTGATTCC 0.408000 20 90 0 0 0.000375601 0 0 SIM1 6492 broad.mit.edu 37 6 100901681 100901681 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:100901681G>A ENST00000369208.3 - 3 997 c.215C>T c.(214-216)cCc>cTc p.P72L SIM1_ENST00000262901.4_Missense_Mutation_p.P72L P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 72 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTTGTCCAGGGGGCTGGTCCG 0.622000 11 41 0 0 0.000673444 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128840253 128840253 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:128840253G>A ENST00000310343.9 - 22 4812 c.4813C>T c.(4813-4815)Ccc>Tcc p.P1605S ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P1256S|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P1256S|ARHGAP32_ENST00000524655.1_3'UTR NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1605 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TCATCTGGGGGAACTTCTGTC 0.532000 11 47 0 0 0.00136819 0 0 GRIN3A 116443 broad.mit.edu 37 9 104340091 104340091 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:104340091C>T ENST00000361820.3 - 8 3567 c.2967G>A c.(2965-2967)gaG>gaA p.E989E NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 989 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GCTGCTTTTCCTCTATAAATG 0.358000 59 29 0 0 0.000781405 0 0 PTPN4 5775 broad.mit.edu 37 2 120702673 120702673 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:120702673G>A ENST00000263708.2 + 16 2143 c.1372G>A c.(1372-1374)Gga>Aga p.G458R PTPN4_ENST00000544261.1_Missense_Mutation_p.G91R NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 458 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) AGAGACCCCTGGAGATGGGAA 0.373000 12 55 0 0 0.000151284 0 0 CAMK1D 57118 broad.mit.edu 37 10 12803030 12803030 + Missense_Mutation SNP T T A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:12803030T>A ENST00000378847.3 + 4 720 c.383T>A c.(382-384)gTc>gAc p.V128D CAMK1D_ENST00000378845.1_Missense_Mutation_p.V128D NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 128 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) ATCCGCCAAGTCTTGGACGCC 0.552000 6 147 0 0 0.00116845 0 0 MBD5 55777 broad.mit.edu 37 2 149247024 149247024 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:149247024C>T ENST00000407073.1 + 12 4121 c.3124C>T c.(3124-3126)Cct>Tct p.P1042S MBD5_ENST00000404807.1_Missense_Mutation_p.P1275S NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1042 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CACAGCACTTCCTGAGAATCC 0.468000 6 33 0 0 0.00116845 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143756 61143756 + RNA SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:61143756G>A ENST00000475015.1 - 0 582 C20orf166-AS1_ENST00000412495.1_RNA CTTGGCTTCCGAGAAACCGCT 0.667000 26 76 0 0 0.00047179 0 0 ARMC2 84071 broad.mit.edu 37 6 109225519 109225519 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:109225519G>A ENST00000392644.4 + 8 1102 c.934G>A c.(934-936)Gga>Aga p.G312R ARMC2_ENST00000368972.3_Missense_Mutation_p.G147R NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 312 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) TAAATTTAAGGGAAGAAGTAT 0.383000 55 87 0 0 0.000781405 0 0 GMDS 2762 broad.mit.edu 37 6 1961041 1961041 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:1961041C>T ENST00000380815.4 - 5 774 c.505G>A c.(505-507)Gag>Aag p.E169K GMDS_ENST00000530927.1_Missense_Mutation_p.E139K NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 169 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity p.E169*(1) GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) GGGGTGGTCTCCTTCTGGGGT 0.502000 27 88 0 0 0.000339439 0 0 METTL17 64745 broad.mit.edu 37 14 21463363 21463363 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:21463363C>T ENST00000339374.6 + 10 1149 c.916C>T c.(916-918)Ctc>Ttc p.L306F METTL17_ENST00000556670.2_Missense_Mutation_p.L306F|METTL17_ENST00000382985.4_Missense_Mutation_p.L306F NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 306 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 GCACAGCCTTCTCATGGATGC 0.448000 71 137 0 0 0.000781405 0 0 FARS2 10667 broad.mit.edu 37 6 5431306 5431306 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:5431306C>T ENST00000324331.6 + 4 1141 c.805C>T c.(805-807)Cct>Tct p.P269S FARS2_ENST00000274680.4_Missense_Mutation_p.P269S O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial 269 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) CTGCTACTTCCCTTTTACACA 0.428000 31 79 0 0 0.000491102 0 0 BCKDHB 594 broad.mit.edu 37 6 81053415 81053415 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:81053415C>T ENST00000320393.6 + 10 1120 c.1073C>T c.(1072-1074)tCa>tTa p.S358L BCKDHB_ENST00000356489.5_Missense_Mutation_p.S358L|BCKDHB_ENST00000545529.1_3'UTR NM_183050.2 NP_898871.1 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1, beta polypeptide 358 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) GCTCCTATATCAAGAGTATGT 0.378000 16 44 0 0 0.000308642 0 0 NDST4 64579 broad.mit.edu 37 4 115856431 115856431 + Silent SNP T T G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:115856431T>G ENST00000264363.2 - 6 2145 c.1467A>C c.(1465-1467)ccA>ccC p.P489P NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 489 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GGGGTCCTCCTGGATATTCTT 0.403000 12 64 0 0 0.000308642 0 0 FZR1 51343 broad.mit.edu 37 19 3527749 3527749 + Silent SNP C C A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:3527749C>A ENST00000441788.2 + 7 827 c.591C>A c.(589-591)tcC>tcA p.S197S FZR1_ENST00000395095.3_Silent_p.S197S|FZR1_ENST00000313639.8_Intron NM_016263.3 NP_057347.2 Q9UM11 FZR_HUMAN fizzy/cell division cycle 20 related 1 (Drosophila) 197 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) ACTGGTCGTCCCTCAATGTGC 0.632000 12 26 4.3838e-07 2.47942e-06 0.000151284 1 0 LRRC56 115399 broad.mit.edu 37 11 540700 540700 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:540700G>A ENST00000270115.7 + 4 516 c.16G>A c.(16-18)Gac>Aac p.D6N NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 6 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCTGGGCTGGGACAGATCCCG 0.667000 12 30 0 0 0.000151284 0 0 TRIML2 205860 broad.mit.edu 37 4 189022313 189022313 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:189022313C>T ENST00000512729.1 - 3 601 c.227G>A c.(226-228)aGa>aAa p.R76K TRIML2_ENST00000326754.3_Missense_Mutation_p.R76K|TRIML2_ENST00000536972.1_Missense_Mutation_p.R126K NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 76 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TTCCTGCTGTCTCTGGAGATT 0.428000 31 22 0 0 0.00058488 0 0 ELMOD1 55531 broad.mit.edu 37 11 107518222 107518222 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:107518222C>T ENST00000265840.7 + 7 714 c.449C>T c.(448-450)cCa>cTa p.P150L ELMOD1_ENST00000531234.1_Missense_Mutation_p.P144L|ELMOD1_ENST00000443271.2_Missense_Mutation_p.P150L NM_018712.3 NP_061182.3 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 150 ELMO. phagocytosis cytoskeleton GTPase activator activity endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) CCCAATACTCCACTGGAATCT 0.383000 21 31 0 0 0.000586117 0 0 WSCD2 9671 broad.mit.edu 37 12 108589750 108589750 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:108589750G>A ENST00000332082.4 + 3 959 c.141G>A c.(139-141)ggG>ggA p.G47G WSCD2_ENST00000549903.1_Silent_p.G47G|WSCD2_ENST00000261400.3_Silent_p.G47G|WSCD2_ENST00000547525.1_Silent_p.G47G Q2TBF2 WSCD2_HUMAN WSC domain containing 2 47 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 CTGTCTCGGGGAACCAGGCGA 0.612000 54 68 0 0 0.000781405 0 0 LIPE 3991 broad.mit.edu 37 19 42931222 42931222 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:42931222G>A ENST00000244289.4 - 1 356 c.80C>T c.(79-81)cCt>cTt p.P27L LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 27 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TTCTGGCCCAGGCTCTAGCGG 0.537000 29 38 0 0 0.00058488 0 0 FSTL4 23105 broad.mit.edu 37 5 132535168 132535168 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:132535168G>A ENST00000265342.7 - 16 2397 c.2148C>T c.(2146-2148)atC>atT p.I716I CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 716 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCCGCACTGTGATCTCCTGCA 0.572000 25 17 0 0 0.000375601 0 0 ATP10A 57194 broad.mit.edu 37 15 26107818 26107818 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:26107818G>A ENST00000356865.6 - 1 537 c.426C>T c.(424-426)caC>caT p.H142H NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 142 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGCAGCCCAGGTGGTTGATCT 0.692000 9 9 0 0 0.000673444 0 0 PRDM16 63976 broad.mit.edu 37 1 3319548 3319548 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:3319548C>T ENST00000378398.3 + 7 955 c.873C>T c.(871-873)ttC>ttT p.F291F PRDM16_ENST00000442529.2_Silent_p.F290F|PRDM16_ENST00000441472.2_Silent_p.F290F|PRDM16_ENST00000514189.1_Silent_p.F291F|PRDM16_ENST00000511072.1_Silent_p.F291F|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.F290F|PRDM16_ENST00000270722.5_Silent_p.F290F Q9HAZ2 PRD16_HUMAN PR domain containing 16 290 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AGCGGATGTTCCCCAACAAGT 0.652000 T EVI1 """MDS, AML""" 9 11 0 0 0.000442599 0 0 CCDC172 374355 broad.mit.edu 37 10 118101596 118101596 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:118101596G>A ENST00000333254.3 + 5 582 c.331G>A c.(331-333)Gaa>Aaa p.E111K CCDC172_ENST00000497093.1_3'UTR NM_198515.2 NP_940917.1 coiled-coil domain containing 172 ATTTATTAAGGAAATTACAGA 0.264000 10 57 0 0 0.00136819 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991297 35991297 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:35991297C>T ENST00000274278.3 - 1 403 c.46G>A c.(46-48)Ggg>Agg p.G16R UGT3A1_ENST00000507113.1_Missense_Mutation_p.G16R|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G16R|UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000513233.1_5'UTR NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 16 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCAGGACCCCAGAAAGAAGG 0.622000 22 40 0 0 0.00152264 0 0 RP11-125O5.2 0 broad.mit.edu 37 12 21229492 21229492 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:21229492C>T ENST00000590779.1 + 3 215 c.215C>T c.(214-216)cCa>cTa p.P72L SLCO1B7_ENST00000421593.2_Silent_p.S571S|LST3_ENST00000381541.3_Silent_p.S618S|SLCO1B7_ENST00000554957.1_Silent_p.S618S|SLCO1B3_ENST00000553473.1_Silent_p.S679S|LST3_ENST00000540229.1_Silent_p.S679S TATATAATTCCACATATTTGG 0.323000 127 115 0 0 0.000781405 0 0 CHFR 55743 broad.mit.edu 37 12 133448935 133448935 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:133448935C>T ENST00000266880.7 - 4 342 c.279G>A c.(277-279)caG>caA p.Q93Q CHFR_ENST00000443047.2_Silent_p.Q93Q|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Silent_p.Q93Q|CHFR_ENST00000315585.7_Silent_p.Q93Q|CHFR_ENST00000432561.2_Silent_p.Q93Q Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 93 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) AAGGGCATGTCTGCTTCTTAA 0.428000 36 41 0 0 0.00148497 0 0 NRK 203447 broad.mit.edu 37 X 105153188 105153188 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:105153188G>A ENST00000428173.2 + 13 1861 c.1558G>A c.(1558-1560)Gaa>Aaa p.E520K NRK_ENST00000243300.9_Missense_Mutation_p.E519K Q7Z2Y5 NRK_HUMAN Nik related kinase 519 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GGTACCAGAGGAATTTCAGGG 0.547000 HNSCC(51;0.14) 10 3 0 0 0.000442599 0 0 KMT2A 4297 broad.mit.edu 37 11 118344497 118344497 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:118344497G>A ENST00000534358.1 + 3 2646 c.2623G>A c.(2623-2625)Gag>Aag p.E875K KMT2A_ENST00000389506.5_Missense_Mutation_p.E875K|KMT2A_ENST00000354520.4_Missense_Mutation_p.E875K NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A caagagtagagagagagaccg 0.473000 20 11 0 0 0.000958276 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 143613 143613 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:143613C>T ENST00000283426.6 + 3 788 c.738C>T c.(736-738)atC>atT p.I246I NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 246 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) TCCATAGCATCCCCAGGTGGG 0.662000 6 27 0 0 0.000157383 0 0 GPR158 57512 broad.mit.edu 37 10 25684866 25684866 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:25684866C>T ENST00000376351.3 + 3 1394 c.1035C>T c.(1033-1035)ttC>ttT p.F345F NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 345 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GCCTAGGATTCGTTCTTGGAG 0.413000 9 22 0 0 0.000442599 0 0 CABP4 57010 broad.mit.edu 37 11 67223192 67223192 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:67223192C>T ENST00000325656.5 + 1 375 c.298C>T c.(298-300)Cgt>Tgt p.R100C CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR NM_145200.3 NP_660201.1 P57796 CABP4_HUMAN calcium binding protein 4 100 visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CCACCGACATCGTCCTGACTC 0.677000 8 12 0 0 0.000274275 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991296 35991296 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:35991296C>T ENST00000274278.3 - 1 404 c.47G>A c.(46-48)gGg>gAg p.G16E UGT3A1_ENST00000507113.1_Missense_Mutation_p.G16E|UGT3A1_ENST00000503189.1_Missense_Mutation_p.G16E|UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000513233.1_5'UTR NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 16 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAGCAGGACCCCAGAAAGAAG 0.617000 22 40 0 0 0.00152264 0 0 MYOF 26509 broad.mit.edu 37 10 95097616 95097616 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:95097616C>T ENST00000371501.4 - 40 4515 c.4393G>A c.(4393-4395)Gaa>Aaa p.E1465K MYOF_ENST00000371502.4_Missense_Mutation_p.E1484K|MYOF_ENST00000358334.5_Missense_Mutation_p.E1452K|MYOF_ENST00000359263.4_Missense_Mutation_p.E1465K Q9NZM1 MYOF_HUMAN myoferlin 1465 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CCGCATTTTTCATGTTCCCCT 0.423000 17 53 0 0 0.00152264 0 0 CMTR1 23070 broad.mit.edu 37 6 37420894 37420894 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:37420894C>T ENST00000373451.4 + 7 845 c.681C>T c.(679-681)atC>atT p.I227I NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 227 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 ATGAGATGATCCGAGGAGTCT 0.507000 61 75 0 0 0.000781405 0 0 ACTL9 284382 broad.mit.edu 37 19 8807924 8807924 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:8807924C>T ENST00000324436.3 - 1 1248 c.1128G>A c.(1126-1128)agG>agA p.R376R NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 376 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CGGAGAAATTCCTGGTGGGCT 0.667000 6 13 0 0 0.000673444 0 0 ACAN 176 broad.mit.edu 37 15 89400699 89400699 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:89400699G>A ENST00000439576.2 + 12 5257 c.4883G>A c.(4882-4884)gGa>gAa p.G1628E ACAN_ENST00000352105.7_Missense_Mutation_p.G1628E|ACAN_ENST00000559004.1_Missense_Mutation_p.G1628E|ACAN_ENST00000561243.1_Missense_Mutation_p.G1628E NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1628 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTTCCCTCTGGATTTAGTGGT 0.532000 25 144 0 0 0.00106085 0 0 GRIK1 2897 broad.mit.edu 37 21 30959753 30959753 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr21:30959753G>A ENST00000399914.1 - 11 2202 c.1681C>T c.(1681-1683)Cca>Tca p.P561S GRIK1_ENST00000327783.4_Missense_Mutation_p.P576S|GRIK1_ENST00000389125.3_Missense_Mutation_p.P561S|GRIK1_ENST00000535441.1_Missense_Mutation_p.P578S|GRIK1_ENST00000399907.1_Missense_Mutation_p.P576S|GRIK1_ENST00000399913.1_Missense_Mutation_p.P576S|GRIK1_ENST00000309434.7_Missense_Mutation_p.P578S|GRIK1_ENST00000389124.2_Missense_Mutation_p.P576S|GRIK1_ENST00000399909.1_Missense_Mutation_p.P561S P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 576 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CAAATATCTGGAGACAGGGGG 0.473000 22 35 0 0 0.00106085 0 0 EHD4 30844 broad.mit.edu 37 15 42193093 42193093 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:42193093G>A ENST00000220325.4 - 6 1459 c.1376C>T c.(1375-1377)tCg>tTg p.S459L NM_139265.3 NP_644670.1 Q9H223 EHD4_HUMAN EH-domain containing 4 459 EH. endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1) 20 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) ATTGATGGGCGACAGAGTGTA 0.602000 8 39 0 0 0.000274275 0 0 NUSAP1 51203 broad.mit.edu 37 15 41643263 41643263 + Missense_Mutation SNP A A T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:41643263A>T ENST00000260359.6 + 4 603 c.339A>T c.(337-339)agA>agT p.R113S NUSAP1_ENST00000560747.1_Missense_Mutation_p.R127S|NUSAP1_ENST00000560177.1_Missense_Mutation_p.R127S|NUSAP1_ENST00000559596.1_Missense_Mutation_p.R128S|NUSAP1_ENST00000450318.1_Missense_Mutation_p.R128S|NUSAP1_ENST00000450592.2_Missense_Mutation_p.R105S|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000414849.2_Missense_Mutation_p.R128S NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7 NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4 Q9BXS6 NUSAP_HUMAN nucleolar and spindle associated protein 1 128 cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis chromosome|cytoplasm|nucleolus DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2) 13 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168) AGGATCTCAGAGCTACTGCAA 0.378000 15 21 0 0 0.000219431 0 0 BCL6B 255877 broad.mit.edu 37 17 6929847 6929847 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:6929847C>T ENST00000293805.5 + 6 1053 c.961C>T c.(961-963)Cct>Tct p.P321S NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 321 nucleus zinc ion binding skin(1) 1 CTCCTTGGTTCCTGGGGACGA 0.567000 40 80 0 0 0.000374591 0 0 NVL 4931 broad.mit.edu 37 1 224473799 224473799 + Missense_Mutation SNP G G C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:224473799G>C ENST00000281701.6 - 15 2087 c.1828C>G c.(1828-1830)Ctt>Gtt p.L610V NVL_ENST00000361463.3_Missense_Mutation_p.L504V|NVL_ENST00000482491.1_Missense_Mutation_p.L334V|NVL_ENST00000469075.1_Missense_Mutation_p.L519V|NVL_ENST00000340871.4_Missense_Mutation_p.L421V|NVL_ENST00000391875.2_Missense_Mutation_p.L504V NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 610 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) ACCAATCCAAGAGCTTTGAAC 0.458000 11 64 0 0 0.000978159 0 0 KCNH2 3757 broad.mit.edu 37 7 150649877 150649877 + Nonsense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:150649877C>T ENST00000392968.2 - 4 2025 c.905G>A c.(904-906)tGg>tAg p.W302* KCNH2_ENST00000262186.5_Nonsense_Mutation_p.W398*|KCNH2_ENST00000430723.3_Nonsense_Mutation_p.W398*|KCNH2_ENST00000330883.4_Nonsense_Mutation_p.W58* Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 398 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity p.W398*(2) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CAGGATGGTCCAGCGGTGGAT 0.647000 39 55 0 0 0.000509022 0 0 ANK2 287 broad.mit.edu 37 4 114275856 114275856 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:114275856C>T ENST00000357077.4 + 38 6135 c.6082C>T c.(6082-6084)Cgg>Tgg p.R2028W ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R1995W|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1995 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.R2028W(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGGTAAAGTTCGGGTAGAAAA 0.463000 16 47 0 0 0.000308642 0 0 OR5M10 390167 broad.mit.edu 37 11 56344979 56344979 + Silent SNP A A G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:56344979A>G ENST00000526812.2 - 1 284 c.219T>C c.(217-219)taT>taC p.Y73Y NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 CATTGGAAGAATAGCAAATGT 0.463000 19 62 0 0 0.00121646 0 0 RIN2 54453 broad.mit.edu 37 20 19955747 19955747 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:19955747C>T ENST00000255006.6 + 8 1374 c.1225C>T c.(1225-1227)Cgg>Tgg p.R409W RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 360 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 CCCTCCACCCCGGCTGAAGAA 0.607000 11 39 0 0 0.000673444 0 0 THSD7B 80731 broad.mit.edu 37 2 137928475 137928475 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:137928475C>T ENST00000409968.1 + 7 1868 c.1690C>T c.(1690-1692)Cgt>Tgt p.R564C THSD7B_ENST00000413152.2_Missense_Mutation_p.R533C|THSD7B_ENST00000272643.3_Missense_Mutation_p.R564C|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTGGGACATCGTATTCTGAA 0.502000 7 24 0 0 0.000157383 0 0 DUOX2 50506 broad.mit.edu 37 15 45394069 45394069 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:45394069G>A ENST00000389039.6 - 21 3158 c.2773C>T c.(2773-2775)Cac>Tac p.H925Y DUOX2_ENST00000603300.1_Missense_Mutation_p.H925Y Q9NRD8 DUOX2_HUMAN dual oxidase 2 925 EF-hand 3. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGCATGAAGTGAAAATCCTCC 0.572000 12 40 0 0 0.000219431 0 0 TPTE 7179 broad.mit.edu 37 21 10952951 10952951 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr21:10952951C>T ENST00000298232.7 - 8 559 c.192G>A c.(190-192)aaG>aaA p.K64K TPTE_ENST00000361285.4_Silent_p.K82K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.K44K NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 82 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCACAATTTTCTTAATCTTGC 0.308000 10 61 0 0 0.00136819 0 0 KCNH2 3757 broad.mit.edu 37 7 150647470 150647470 + Silent SNP G G T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:150647470G>T ENST00000392968.2 - 7 3016 c.1896C>A c.(1894-1896)atC>atA p.I632I KCNH2_ENST00000262186.5_Silent_p.I728I|KCNH2_ENST00000430723.3_Silent_p.I728I|KCNH2_ENST00000330883.4_Silent_p.I388I Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 728 P -> S (in LQT2). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GGTGCAGGCAGATGTCAGCCT 0.647000 20 62 3.7963e-18 2.17059e-17 0.00047179 1 0 SERPINA10 51156 broad.mit.edu 37 14 94754765 94754765 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:94754765G>A ENST00000554723.1 - 3 1388 c.970C>T c.(970-972)Cgt>Tgt p.R324C SERPINA10_ENST00000393096.1_Missense_Mutation_p.R284C|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R284C|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R284C Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 284 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.R284C(1) haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) ACATGACAACGAAAATTCTTG 0.507000 18 41 0 0 0.00074312 0 0 AHCTF1 25909 broad.mit.edu 37 1 247065863 247065863 + Nonsense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:247065863G>A ENST00000366508.1 - 8 1322 c.1186C>T c.(1186-1188)Cga>Tga p.R396* AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.R370*|AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.R361* Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 361 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CCATGAGATCGAAATTTCTCT 0.418000 47 135 0 0 0.000781405 0 0 PDE4C 5143 broad.mit.edu 37 19 18331715 18331715 + Missense_Mutation SNP G G T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:18331715G>T ENST00000355502.3 - 9 1435 c.564C>A c.(562-564)aaC>aaA p.N188K PDE4C_ENST00000539010.1_Intron|PDE4C_ENST00000447275.2_Missense_Mutation_p.N82K|PDE4C_ENST00000262805.11_Missense_Mutation_p.N156K|PDE4C_ENST00000594617.2_Missense_Mutation_p.N188K|PDE4C_ENST00000594465.2_Missense_Mutation_p.N188K Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 188 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) TGGATGAAGGGTTTCCGACGG 0.652000 4 18 0.000602214 0.00335428 0.000602214 1 0 ZSWIM3 140831 broad.mit.edu 37 20 44506200 44506200 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:44506200C>T ENST00000255152.2 + 2 1212 c.1003C>T c.(1003-1005)Ctg>Ttg p.L335L ZSWIM3_ENST00000454862.2_Silent_p.L329L NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 335 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) GAAGGAAGCCCTGCGGGAGGC 0.517000 32 112 0 0 0.000692331 0 0 KCNG4 93107 broad.mit.edu 37 16 84256488 84256488 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:84256488C>T ENST00000308251.4 - 3 963 c.895G>A c.(895-897)Gac>Aac p.D299N NM_172347.2 NP_758857.1 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 299 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 GCCAGGATGTCGATGATGTTC 0.627000 6 12 0 0 0.000442599 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2307183 2307183 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:2307183G>A ENST00000290974.2 - 8 1223 c.884C>T c.(883-885)cCc>cTc p.P295L ZFYVE28_ENST00000511071.1_Missense_Mutation_p.P265L|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.P225L NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 295 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 TGCGCGGATGGGGAACTCCAC 0.627000 8 39 0 0 0.000274275 0 0 ZNF286B 729288 broad.mit.edu 37 17 18565293 18565293 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:18565293G>A ENST00000545289.1 - 5 1776 c.1526C>T c.(1525-1527)tCt>tTt p.S509F NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 TCTGATGAGAGATGAACTGCA 0.353000 11 43 0 0 0.000308642 0 0 TMEM130 222865 broad.mit.edu 37 7 98445738 98445738 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:98445738G>A ENST00000450876.1 - 8 2276 c.961C>T c.(961-963)Cgt>Tgt p.R321C TMEM130_ENST00000416379.2_Missense_Mutation_p.R417C|TMEM130_ENST00000339375.4_Missense_Mutation_p.R405C|TMEM130_ENST00000546258.1_Missense_Mutation_p.R386C|TMEM130_ENST00000345589.4_Missense_Mutation_p.R303C Q8N3G9 TM130_HUMAN transmembrane protein 130 417 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGGTTCTCACGAACAATTTCC 0.567000 17 53 0 0 0.00121646 0 0 ZNF385B 151126 broad.mit.edu 37 2 180311347 180311347 + Missense_Mutation SNP A A G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:180311347A>G ENST00000410066.1 - 7 1424 c.821T>C c.(820-822)gTt>gCt p.V274A ZNF385B_ENST00000409343.1_Missense_Mutation_p.V198A|ZNF385B_ENST00000336917.5_Missense_Mutation_p.V172A|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.V172A NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 274 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) TTCTGATTCAACAACAGTACC 0.473000 38 53 0 0 0.00111076 0 0 KCNT1 57582 broad.mit.edu 37 9 138676458 138676458 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:138676458C>T ENST00000298480.5 + 26 3095 c.3021C>T c.(3019-3021)ctC>ctT p.L1007L KCNT1_ENST00000491806.2_Silent_p.L974L|KCNT1_ENST00000488444.2_Silent_p.L988L|KCNT1_ENST00000487664.1_Silent_p.L962L|KCNT1_ENST00000490355.2_Silent_p.L986L|KCNT1_ENST00000371757.2_Silent_p.L1007L|KCNT1_ENST00000263604.3_Silent_p.L988L|KCNT1_ENST00000486577.2_Silent_p.L966L B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 1007 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) CGGGGTACCTCTGTGCCGTAA 0.677000 13 6 0 0 0.00136819 0 0 CD1E 913 broad.mit.edu 37 1 158325195 158325195 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:158325195C>T ENST00000444681.2 + 2 457 c.164C>T c.(163-165)tCc>tTc p.S55F CD1E_ENST00000434258.1_Missense_Mutation_p.S152F|CD1E_ENST00000368160.3_Missense_Mutation_p.S154F|CD1E_ENST00000368161.3_Missense_Mutation_p.S154F|CD1E_ENST00000368167.3_Missense_Mutation_p.S154F|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.S154F|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 154 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CAAGGAATTTCCTGGGAGCCA 0.448000 21 114 0 0 0.000229342 0 0 SLC13A3 64849 broad.mit.edu 37 20 45242182 45242182 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:45242182G>A ENST00000279027.4 - 2 312 c.294C>T c.(292-294)atC>atT p.I98I SLC13A3_ENST00000339636.3_Silent_p.I98I|SLC13A3_ENST00000396360.1_Silent_p.I51I|SLC13A3_ENST00000290317.5_Silent_p.I51I|SLC13A3_ENST00000417157.2_Silent_p.I51I|SLC13A3_ENST00000413164.2_Silent_p.I98I|SLC13A3_ENST00000495082.1_Silent_p.I51I|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000372121.1_Silent_p.I98I|SLC13A3_ENST00000472148.1_Silent_p.I51I NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 98 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) CGCTGGCCATGATCAGCCCAC 0.577000 8 28 0 0 0.000157383 0 0 ENOX1 55068 broad.mit.edu 37 13 43918689 43918689 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr13:43918689C>T ENST00000261488.6 - 9 1598 c.1021G>A c.(1021-1023)Ggg>Agg p.G341R ENOX1_ENST00000540032.1_Missense_Mutation_p.G154R|ENOX1_ENST00000412891.1_Missense_Mutation_p.G341R NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 341 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) GTGAGAATCCCAGTTAAGGCA 0.408000 31 45 0 0 0.000409698 0 0 CACNA1S 779 broad.mit.edu 37 1 201061138 201061138 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:201061138C>T ENST00000362061.3 - 4 729 c.503G>A c.(502-504)cGa>cAa p.R168Q CACNA1S_ENST00000367338.3_Missense_Mutation_p.R168Q NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 168 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCTGAGCACTCGGAAGGCTCT 0.602000 10 34 0 0 0.000442599 0 0 CDH23 64072 broad.mit.edu 37 10 73376977 73376977 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:73376977G>A ENST00000224721.6 + 10 981 c.976G>A c.(976-978)Gat>Aat p.D326N CDH23_ENST00000299366.7_Missense_Mutation_p.D366N|CDH23_ENST00000461841.3_Missense_Mutation_p.D366N|CDH23_ENST00000398809.4_Missense_Mutation_p.D321N|CDH23_ENST00000398842.3_Missense_Mutation_p.D321N NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 321 Cadherin 3. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGAGCTGAACGATGACCGCAC 0.522000 5 16 0 0 0.000602214 0 0 UGT3A2 167127 broad.mit.edu 37 5 36037996 36037996 + Nonsense_Mutation SNP G G A rs147315371 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:36037996G>A ENST00000282507.3 - 6 1299 c.1198C>T c.(1198-1200)Cga>Tga p.R400* UGT3A2_ENST00000513300.1_Nonsense_Mutation_p.R366*|UGT3A2_ENST00000545528.1_Nonsense_Mutation_p.R98* NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 400 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCTTCTACTCGGACCATGTTT 0.478000 20 91 0 0 0.000958276 0 0 RIPK3 11035 broad.mit.edu 37 14 24806441 24806441 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:24806441C>T ENST00000216274.5 - 8 1344 c.1126G>A c.(1126-1128)Gag>Aag p.E376K RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.E50K NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 376 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) ACCTGCTCCTCTTGTGCCCTG 0.522000 43 82 0 0 0.000781405 0 0 MAGEE1 57692 broad.mit.edu 37 X 75648632 75648632 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:75648632C>T ENST00000361470.2 + 1 587 c.309C>T c.(307-309)tcC>tcT p.S103S NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 103 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CTGGCACCTCCGTGCTGCCCA 0.682000 10 1 0 0 0.00136819 0 0 MUC16 94025 broad.mit.edu 37 19 9076695 9076695 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:9076695G>A ENST00000397910.4 - 3 10954 c.10751C>T c.(10750-10752)tCt>tTt p.S3584F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3585 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGCTGTGGAAGACCAGGTGGA 0.493000 21 68 0 0 0.000229342 0 0 PLEC 5339 broad.mit.edu 37 8 144997805 144997805 + Missense_Mutation SNP C C A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:144997805C>A ENST00000322810.4 - 31 6872 c.6703G>T c.(6703-6705)Gtg>Ttg p.V2235L PLEC_ENST00000356346.3_Missense_Mutation_p.V2084L|PLEC_ENST00000436759.2_Missense_Mutation_p.V2125L|PLEC_ENST00000398774.2_Missense_Mutation_p.V2066L|PLEC_ENST00000354958.2_Missense_Mutation_p.V2076L|PLEC_ENST00000354589.3_Missense_Mutation_p.V2098L|PLEC_ENST00000357649.2_Missense_Mutation_p.V2102L|PLEC_ENST00000345136.3_Missense_Mutation_p.V2098L|PLEC_ENST00000527096.1_Missense_Mutation_p.V2121L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2235 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCCGCCTGCACCCGGGCCTCC 0.756000 5 15 0.00116845 0.00648841 0.00116845 1 0 MUC16 94025 broad.mit.edu 37 19 9060353 9060353 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:9060353C>T ENST00000397910.4 - 3 27296 c.27093G>A c.(27091-27093)acG>acA p.T9031T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9033 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTCCTCAATCGTGGCACTAG 0.542000 26 28 0 0 0.000586117 0 0 ARMC3 219681 broad.mit.edu 37 10 23250819 23250819 + Nonsense_Mutation SNP C C T rs78062147 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:23250819C>T ENST00000298032.5 + 7 628 c.544C>T c.(544-546)Cag>Tag p.Q182* ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Nonsense_Mutation_p.Q182*|ARMC3_ENST00000409049.3_Nonsense_Mutation_p.Q182* NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 182 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GCAGGATTTTCAGTGTCGAGC 0.333000 10 22 0 0 0.00136819 0 0 OR2M7 391196 broad.mit.edu 37 1 248487313 248487313 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:248487313G>A ENST00000317965.2 - 1 586 c.558C>T c.(556-558)atC>atT p.I186I NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 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) TGCATGAGAGGATTAGTAGGG 0.423000 39 205 0 0 0.00128727 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871441 51871441 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:51871441G>A ENST00000371497.5 + 2 2331 c.1444G>A c.(1444-1446)Gag>Aag p.E482K TSHZ2_ENST00000603338.2_Missense_Mutation_p.E479K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E479K NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 482 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CGTGAAAAGCGAGGACTATGA 0.428000 36 99 0 0 0.000814825 0 0 KIF6 221458 broad.mit.edu 37 6 39602662 39602662 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:39602662C>T ENST00000287152.7 - 5 566 c.472G>A c.(472-474)Gat>Aat p.D158N KIF6_ENST00000373215.3_Missense_Mutation_p.D158N|KIF6_ENST00000538893.1_Missense_Mutation_p.D158N|KIF6_ENST00000373216.3_Missense_Mutation_p.D158N NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 158 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TGTCTTGGATCCAAAAGATCA 0.358000 30 50 0 0 0.00178596 0 0 SEMA6C 10500 broad.mit.edu 37 1 151109048 151109048 + Missense_Mutation SNP C C A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:151109048C>A ENST00000341697.3 - 12 2673 c.982G>T c.(982-984)Ggc>Tgc p.G328C Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 328 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACGGCAGAGCCAGGGATGCTG 0.552000 23 164 1.64293e-13 9.37905e-13 0.00047179 1 0 ZDBF2 57683 broad.mit.edu 37 2 207174680 207174680 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:207174680G>A ENST00000374423.3 + 5 5814 c.5428G>A c.(5428-5430)Gat>Aat p.D1810N NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1810 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TGTCATAGAGGATAATCCTGA 0.393000 34 54 0 0 0.00058488 0 0 SEZ6L 23544 broad.mit.edu 37 22 26707860 26707860 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:26707860G>A ENST00000529632.2 + 8 2004 c.1808G>A c.(1807-1809)gGc>gAc p.G603D SEZ6L_ENST00000403121.1_Missense_Mutation_p.G376D|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G603D|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G603D|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G603D|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G603D|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G376D NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 603 Sushi 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTGGAGCAGGGCCCGGCCATC 0.577000 58 158 0 0 0.000781405 0 0 GPR116 221395 broad.mit.edu 37 6 46874483 46874483 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:46874483C>T ENST00000283296.7 - 2 305 c.17G>A c.(16-18)aGa>aAa p.R6K GPR116_ENST00000456426.2_Missense_Mutation_p.R6K|GPR116_ENST00000362015.4_Missense_Mutation_p.R6K|RP3-365O12.2_ENST00000451135.1_RNA|GPR116_ENST00000265417.7_Missense_Mutation_p.R6K NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 6 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R6I(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CAAAGTGGTTCTCCTTGGGGA 0.358000 38 39 0 0 0.00111076 0 0 XRN2 22803 broad.mit.edu 37 20 21349172 21349172 + Missense_Mutation SNP G G C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:21349172G>C ENST00000377191.3 + 27 2623 c.2528G>C c.(2527-2529)gGa>gCa p.G843A XRN2_ENST00000539513.1_Missense_Mutation_p.G789A|XRN2_ENST00000430571.2_Missense_Mutation_p.G767A NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 843 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 ACTTACCAGGGAAACTTATAC 0.393000 41 113 0 0 0.000509022 0 0 TRIP12 9320 broad.mit.edu 37 2 230655878 230655878 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:230655878G>A ENST00000283943.5 - 29 4458 c.4280C>T c.(4279-4281)tCc>tTc p.S1427F TRIP12_ENST00000389045.3_Missense_Mutation_p.S1157F|TRIP12_ENST00000389044.4_Missense_Mutation_p.S1475F NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1427 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ATTTCTAGGGGAAGTTTTCGT 0.398000 40 73 0 0 0.000589545 0 0 JPH3 57338 broad.mit.edu 37 16 87677904 87677904 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:87677904C>T ENST00000284262.2 + 2 665 c.423C>T c.(421-423)ggC>ggT p.G141G NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 141 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) TGCGCCAGGGCTACGGCGTCC 0.677000 26 32 0 0 0.00127121 0 0 C15orf27 123591 broad.mit.edu 37 15 76494549 76494549 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:76494549C>T ENST00000388942.3 + 10 1241 c.965C>T c.(964-966)aCg>aTg p.T322M NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 322 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 GTAGAAGCCACGATGAAGGAC 0.532000 35 32 0 0 0.000374591 0 0 SFTPD 6441 broad.mit.edu 37 10 81697824 81697824 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:81697824G>A ENST00000372292.3 - 8 952 c.912C>T c.(910-912)gtC>gtT p.V304V NM_003019.4 NP_003010.4 P35247 SFTPD_HUMAN surfactant protein D 304 C-type lectin. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) TCTTAGCTACGACCAGCTGTT 0.557000 27 66 0 0 0.000878237 0 0 RAB30 27314 broad.mit.edu 37 11 82693213 82693213 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:82693213G>A ENST00000533486.1 - 6 890 c.606C>T c.(604-606)ttC>ttT p.F202F RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000260056.2_Silent_p.F202F|RAB30_ENST00000527633.1_Silent_p.F202F|RAB30_ENST00000534141.1_3'UTR NM_014488.3 NP_055303.2 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family 202 protein transport|small GTPase mediated signal transduction Golgi stack|plasma membrane GTP binding|GTPase activity endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 GCCTTTAGTTGAAATTACAAC 0.493000 17 61 0 0 0.000958276 0 0 TRANK1 9881 broad.mit.edu 37 3 36898686 36898686 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:36898686G>A ENST00000429976.2 - 12 2642 c.2395C>T c.(2395-2397)Ctg>Ttg p.L799L TRANK1_ENST00000428977.2_Silent_p.L249L|TRANK1_ENST00000301807.6_Silent_p.L249L O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 799 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AGCTTCTTCAGCATTTCTGAA 0.512000 59 120 0 0 0.000781405 0 0 ITGAL 3683 broad.mit.edu 37 16 30507776 30507776 + Missense_Mutation SNP T T A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:30507776T>A ENST00000356798.6 + 15 1901 c.1721T>A c.(1720-1722)gTg>gAg p.V574E ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.V491E NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 574 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GGGACCCAAGTGCTCTCAGGA 0.572000 14 54 0 0 0.00121646 0 0 MECOM 2122 broad.mit.edu 37 3 169099040 169099040 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:169099040C>T ENST00000494292.1 - 2 407 c.310G>A c.(310-312)Gaa>Aaa p.E104K MECOM_ENST00000485957.1_5'UTR NM_004991.3 NP_004982.2 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 104 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CCAAACTTTTCACCTACTTCG 0.433000 22 56 0 0 0.000375601 0 0 ATP2B4 493 broad.mit.edu 37 1 203669940 203669940 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:203669940G>A ENST00000357681.5 + 6 1913 c.790G>A c.(790-792)Gaa>Aaa p.E264K ATP2B4_ENST00000341360.2_Missense_Mutation_p.E264K|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E264K|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E264K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E264K NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 264 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CCATGTCATGGAAGGTTCTGG 0.458000 6 66 0 0 8.12818e-05 0 0 KRT85 3891 broad.mit.edu 37 12 52760939 52760939 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:52760939G>A ENST00000257901.3 - 1 326 c.251C>T c.(250-252)tCc>tTc p.S84F NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 84 Head. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CACGCCCCCGGAGCGGTAGCC 0.687000 24 44 0 0 0.000720815 0 0 DNAH5 1767 broad.mit.edu 37 5 13714555 13714555 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:13714555C>T ENST00000265104.4 - 75 13188 c.13084G>A c.(13084-13086)Gat>Aat p.D4362N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4362 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) TCCAGCATATCATCAGCCAGC 0.572000 Kartagener syndrome 30 45 0 0 0.000692331 0 0 THAP5 168451 broad.mit.edu 37 7 108205132 108205132 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:108205132G>A ENST00000415914.3 - 3 844 c.691C>T c.(691-693)Cat>Tat p.H231Y THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000438865.1_3'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.H189Y NM_001130475.1 NP_001123947.1 Q7Z6K1 THAP5_HUMAN THAP domain containing 5 231 cell cycle|negative regulation of cell cycle nucleus DNA binding|metal ion binding|protease binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 TTAGCAAGATGACTGGTAGTT 0.308000 40 57 0 0 0.00170553 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623513 21623513 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:21623513G>A ENST00000304418.3 - 1 709 c.672C>T c.(670-672)gtC>gtT p.V224V NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) AGTGAGTGACGACATGAGCAC 0.488000 23 29 0 0 0.000720815 0 0 CHD4 1108 broad.mit.edu 37 12 6690874 6690874 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:6690874G>A ENST00000309577.6 - 30 4869 c.4706C>T c.(4705-4707)cCt>cTt p.P1569L CHD4_ENST00000357008.2_Missense_Mutation_p.P1541L|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.P1566L|CHD4_ENST00000544040.1_Missense_Mutation_p.P1534L Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1541 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GGAGGGTGTAGGAGTTTTTGG 0.542000 65 54 0 0 0.000781405 0 0 PLCG2 5336 broad.mit.edu 37 16 81819628 81819628 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:81819628G>A ENST00000359376.3 + 2 248 c.34G>A c.(34-36)Gaa>Aaa p.E12K NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 12 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TTCCCTTGCGGAATATGAGAA 0.552000 18 41 0 0 0.000566183 0 0 FAM194A 131831 broad.mit.edu 37 3 150403780 150403780 + Silent SNP C C T rs145250976 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:150403780C>T ENST00000295910.6 - 5 691 c.639G>A c.(637-639)tcG>tcA p.S213S FAM194A_ENST00000491361.1_Silent_p.S67S NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 213 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TATTTAGTTTCGACTCTTCTG 0.308000 14 63 0 0 0.000566183 0 0 SORL1 6653 broad.mit.edu 37 11 121474953 121474953 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:121474953G>A ENST00000260197.7 + 33 4700 c.4571G>A c.(4570-4572)gGg>gAg p.G1524E SORL1_ENST00000534286.1_Missense_Mutation_p.G434E|SORL1_ENST00000525532.1_Missense_Mutation_p.G468E|SORL1_ENST00000527934.1_Missense_Mutation_p.G139E|SORL1_ENST00000532694.1_Missense_Mutation_p.G370E NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1524 LDL-receptor class A 11. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGCGAGGACGGGGAGGCCTGC 0.617000 32 95 0 0 0.00148497 0 0 BCDIN3D 144233 broad.mit.edu 37 12 50232547 50232547 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:50232547G>A ENST00000333924.4 - 2 527 c.486C>T c.(484-486)ttC>ttT p.F162F BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA NM_181708.2 NP_859059.1 Q7Z5W3 BN3D2_HUMAN BCDIN3 domain containing 162 Bin3-type SAM. methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1) 9 TTGACATGCAGAAGCCAATGT 0.468000 OREG0021805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 54 0 0 0.000219431 0 0 CILP 8483 broad.mit.edu 37 15 65490866 65490866 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:65490866G>A ENST00000261883.4 - 9 1924 c.1758C>T c.(1756-1758)atC>atT p.I586I NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 586 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CCAGGGGGATGATGTTGGTCT 0.507000 9 44 0 0 0.000442599 0 0 DAPP1 27071 broad.mit.edu 37 4 100756893 100756893 + Missense_Mutation SNP T T C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:100756893T>C ENST00000296414.7 + 2 296 c.215T>C c.(214-216)cTc>cCc p.L72P DAPP1_ENST00000512369.1_Missense_Mutation_p.L72P Q9UN19 DAPP1_HUMAN dual adaptor of phosphotyrosine and 3-phosphoinositides 72 SH2. signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity endometrium(1)|kidney(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) CTGTACTCTCTCTCTGTGAGG 0.507000 11 34 0 0 0.00136819 0 0 CASP5 838 broad.mit.edu 37 11 104866478 104866478 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:104866478C>T ENST00000393141.2 - 9 1368 c.1337G>A c.(1336-1338)gGc>gAc p.G446D CASP5_ENST00000531367.1_Missense_Mutation_p.G291D|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000260315.3_Missense_Mutation_p.G433D|CASP5_ENST00000526056.1_Missense_Mutation_p.G446D|CASP5_ENST00000444749.2_Missense_Mutation_p.G375D|CASP5_ENST00000418434.1_Missense_Mutation_p.G291D NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 433 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TTTTCAATTGCCAGGAAAGAG 0.403000 25 41 0 0 0.00047179 0 0 NISCH 11188 broad.mit.edu 37 3 52524839 52524839 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:52524839C>T ENST00000345716.4 + 19 3866 c.3732C>T c.(3730-3732)ttC>ttT p.F1244F NISCH_ENST00000479054.1_Silent_p.F1244F NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 1244 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) ACCAGCATTTCCGGCTGACGG 0.542000 17 45 0 0 0.000295444 0 0 DMXL2 23312 broad.mit.edu 37 15 51828531 51828531 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:51828531G>A ENST00000251076.5 - 12 2433 c.2146C>T c.(2146-2148)Cat>Tat p.H716Y DMXL2_ENST00000449909.3_Missense_Mutation_p.H716Y|DMXL2_ENST00000543779.2_Missense_Mutation_p.H716Y NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 716 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TTTGGGTCATGAAATGTACGA 0.393000 81 75 0 0 0.000781405 0 0 WNK3 65267 broad.mit.edu 37 X 54263821 54263821 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:54263821G>A ENST00000354646.2 - 20 4616 c.4178C>T c.(4177-4179)tCg>tTg p.S1393L WNK3_ENST00000375169.3_Missense_Mutation_p.S1346L|WNK3_ENST00000375159.2_Missense_Mutation_p.S1393L NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1346 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity p.S1393*(1) autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 ATAAGAAAACGAAGTTTTTGG 0.378000 50 8 0 0 0.000781405 0 0 EPB41L4B 54566 broad.mit.edu 37 9 111936842 111936842 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:111936842C>T ENST00000374566.3 - 26 3212 c.2695G>A c.(2695-2697)Gaa>Aaa p.E899K NM_019114.3 NP_061987.3 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 899 E -> R (in Ref. 1; AAG43366). cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton p.E899K(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TTTCACAGTTCGGTCATCAAC 0.458000 11 40 0 0 0.000978159 0 0 SCN9A 6335 broad.mit.edu 37 2 167108350 167108350 + Missense_Mutation SNP G G T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:167108350G>T ENST00000375387.4 - 18 3740 c.3400C>A c.(3400-3402)Cct>Act p.P1134T SCN9A_ENST00000303354.6_Missense_Mutation_p.P1134T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.P1122T|SCN9A_ENST00000409435.1_Missense_Mutation_p.P1133T Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1133 L -> F. voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CCAGGCAAAGGGTTATCAACT 0.448000 16 19 6.72482e-11 3.83304e-10 0.000308642 1 0 LILRB5 10990 broad.mit.edu 37 19 54759989 54759989 + Nonsense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:54759989C>T ENST00000450632.1 - 4 622 c.545G>A c.(544-546)tGg>tAg p.W182* LILRB5_ENST00000449561.2_Nonsense_Mutation_p.W191*|LILRB5_ENST00000316219.5_Nonsense_Mutation_p.W191*|LILRB5_ENST00000345866.6_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 191 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTGAACCTCCACCTGCAGCT 0.567000 26 25 0 0 0.000720815 0 0 APLP1 333 broad.mit.edu 37 19 36369521 36369521 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:36369521G>A ENST00000221891.4 + 14 1807 c.1615G>A c.(1615-1617)Gag>Aag p.E539K APLP1_ENST00000537454.2_Missense_Mutation_p.E499K|APLP1_ENST00000586861.1_Missense_Mutation_p.E532K NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 538 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCTGAGAAAGAGAAGATGAA 0.488000 5 32 0 0 0.00116845 0 0 SCNN1G 6340 broad.mit.edu 37 16 23226713 23226713 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:23226713C>T ENST00000300061.2 + 13 2016 c.1873C>T c.(1873-1875)Ccc>Tcc p.P625S NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 625 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) CACACCGCCCCCCAAATACAA 0.552000 15 52 0 0 0.000422831 0 0 WWC1 23286 broad.mit.edu 37 5 167850763 167850763 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:167850763C>T ENST00000265293.4 + 11 2002 c.1500C>T c.(1498-1500)acC>acT p.T500T WWC1_ENST00000521089.1_Silent_p.T500T NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 500 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GCATCACCACCATCCACGAGG 0.642000 32 20 0 0 0.001512 0 0 ANKS1B 56899 broad.mit.edu 37 12 100200442 100200442 + Nonsense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:100200442G>A ENST00000547776.2 - 4 408 c.409C>T c.(409-411)Caa>Taa p.Q137* ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.Q137* NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 137 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TGTCCATATTGAGCTGCACAG 0.383000 15 36 0 0 0.000958276 0 0 ULBP3 79465 broad.mit.edu 37 6 150386606 150386606 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:150386606C>T ENST00000367339.1 - 3 584 c.556G>A c.(556-558)Gtc>Atc p.V186I ULBP3_ENST00000438272.2_Missense_Mutation_p.V186I Q9BZM4 N2DL3_HUMAN UL16 binding protein 3 186 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation anchored to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 9 Ovarian(120;0.12) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.45e-12) CTCATTGAGACCATCTTGAAG 0.527000 15 47 0 0 0.000308642 0 0 CBX8 57332 broad.mit.edu 37 17 77768995 77768995 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:77768995G>A ENST00000269385.4 - 5 726 c.609C>T c.(607-609)ccC>ccT p.P203P NM_020649.2 NP_065700.1 Q9HC52 CBX8_HUMAN chromobox homolog 8 203 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GCTCCTTCCGGGGCTTGGGGC 0.672000 8 24 0 0 0.000274275 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54919610 54919610 + Nonsense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:54919610C>T ENST00000474759.1 + 23 2101 c.2053C>T c.(2053-2055)Cag>Tag p.Q685* CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.Q591*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.Q685*|CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.Q685* NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 685 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) ACCTCTGCTCCAGTGTGAGTA 0.473000 6 10 0 0 8.12818e-05 0 0 FLRT3 23767 broad.mit.edu 37 20 14306629 14306629 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:14306629G>A ENST00000378053.3 - 2 1780 c.1524C>T c.(1522-1524)aaC>aaT p.N508N MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Silent_p.N508N|MACROD2_ENST00000217246.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 508 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TGGTTGTAGGGTTGTACATTC 0.458000 42 70 0 0 0.000509022 0 0 DOCK4 9732 broad.mit.edu 37 7 111368493 111368493 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:111368493G>A ENST00000428084.1 - 53 6037 c.5765C>T c.(5764-5766)cCc>cTc p.P1922L DOCK4_ENST00000437633.1_Missense_Mutation_p.P1913L|DOCK4_ENST00000494651.2_Missense_Mutation_p.P796L Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1913 Pro-rich. 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) TAGCGGGACGGGGCGCCGCAG 0.716000 34 34 0 0 0.00128727 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475705 140475705 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:140475705C>T ENST00000194155.4 + 1 1479 c.1331C>T c.(1330-1332)tCc>tTc p.S444F NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 444 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGCTGGTCTCCGACGTCAAT 0.607000 43 36 0 0 0.000680045 0 0 ATMIN 23300 broad.mit.edu 37 16 81077419 81077419 + Missense_Mutation SNP C C G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:81077419C>G ENST00000566488.1 + 3 1811 c.848C>G c.(847-849)tCt>tGt p.S283C ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Missense_Mutation_p.S439C|ATMIN_ENST00000564241.1_Missense_Mutation_p.S283C O43313 ATMIN_HUMAN ATM interactor 439 Required for formation of RAD51 foci. response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 TCTGTGTCGTCTTGTTCTCAA 0.413000 27 67 0 0 0.000878237 0 0 RUFY4 285180 broad.mit.edu 37 2 218947953 218947953 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:218947953G>A ENST00000374155.3 + 10 1946 c.1536G>A c.(1534-1536)atG>atA p.M512I RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.M492I Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 492 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TCCAGGCCATGAAGAGGCGGG 0.597000 30 34 0 0 0.00170553 0 0 GPR78 27201 broad.mit.edu 37 4 8582880 8582880 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:8582880G>A ENST00000382487.4 + 1 588 c.171G>A c.(169-171)gcG>gcA p.A57A GPR78_ENST00000509216.1_Intron NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 57 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 TGCTGGCGGCGCTGGACATGC 0.662000 6 23 0 0 0.00116845 0 0 SLC25A46 91137 broad.mit.edu 37 5 110092443 110092443 + Missense_Mutation SNP T T A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:110092443T>A ENST00000355943.3 + 7 788 c.662T>A c.(661-663)cTg>cAg p.L221Q SLC25A46_ENST00000509442.2_Missense_Mutation_p.L130Q|SLC25A46_ENST00000509432.1_Missense_Mutation_p.L8Q|SLC25A46_ENST00000447245.2_Missense_Mutation_p.L221Q|SLC25A46_ENST00000504098.1_Missense_Mutation_p.L75Q|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000513807.1_Missense_Mutation_p.L59Q NM_138773.1 NP_620128.1 Q96AG3 S2546_HUMAN solute carrier family 25, member 46 221 transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) TCAGCAAGTCTGATTGAAACA 0.274000 10 43 0 0 0.000151284 0 0 IGSF22 283284 broad.mit.edu 37 11 18741335 18741335 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:18741335C>T ENST00000513874.1 - 7 763 c.624G>A c.(622-624)atG>atA p.M208I RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 208 Lys-rich. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 AACCATACTCCATGCACACCT 0.507000 71 94 0 0 0.000781405 0 0 VWF 7450 broad.mit.edu 37 12 6230478 6230478 + Missense_Mutation SNP C C G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:6230478C>G ENST00000261405.5 - 3 336 c.82G>C c.(82-84)Ggc>Cgc p.G28R VWF_ENST00000572068.1_Missense_Mutation_p.G65R NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 28 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GATGACCTGCCGCGAGTTCCT 0.572000 15 19 0 0 0.00074312 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688745 26688745 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:26688745C>T ENST00000529632.2 + 2 664 c.468C>T c.(466-468)ctC>ctT p.L156L SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.L156L|SEZ6L_ENST00000404234.3_Silent_p.L156L|SEZ6L_ENST00000360929.3_Silent_p.L156L|SEZ6L_ENST00000248933.6_Silent_p.L156L|SEZ6L_ENST00000402979.1_5'UTR NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 156 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GCCTAGATCTCCTCTCCTCCT 0.667000 12 33 0 0 0.00136819 0 0 C1orf227 149643 broad.mit.edu 37 1 213009387 213009387 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:213009387C>T ENST00000332912.3 - 2 212 c.105G>A c.(103-105)gtG>gtA p.V35V NM_001024601.2 NP_001019772.1 Q537H7 CA227_HUMAN chromosome 1 open reading frame 227 35 kidney(1)|large_intestine(1)|lung(1) 3 TGCTTCGTTCCACCAAGCAGT 0.418000 30 150 0 0 0.000339439 0 0 C20orf26 26074 broad.mit.edu 37 20 20056175 20056175 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:20056175C>T ENST00000245957.5 + 6 558 c.482C>T c.(481-483)cCg>cTg p.P161L C20orf26_ENST00000377306.1_Missense_Mutation_p.P161L|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.P161L|C20orf26_ENST00000377309.2_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 161 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GGGAACATCCCGTGTCTGACG 0.428000 60 115 0 0 0.000781405 0 0 SLC26A9 115019 broad.mit.edu 37 1 205895698 205895698 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:205895698G>A ENST00000367135.3 - 12 1467 c.1354C>T c.(1354-1356)Ccc>Tcc p.P452S SLC26A9_ENST00000367134.2_Missense_Mutation_p.P452S|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P452S NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 452 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) AGGTAGTAGGGGTCGGTGAGT 0.582000 30 67 0 0 0.00111076 0 0 CNPPD1 27013 broad.mit.edu 37 2 220038173 220038173 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:220038173C>T ENST00000409789.1 - 8 1016 c.589G>A c.(589-591)Gga>Aga p.G197R CNPPD1_ENST00000360507.5_Missense_Mutation_p.G197R Q9BV87 CNPD1_HUMAN cyclin Pas1/PHO80 domain containing 1 197 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 CGCCACCGTCCCTGCTGCTCA 0.617000 16 24 0 0 0.000308642 0 0 PRKCQ 5588 broad.mit.edu 37 10 6528045 6528045 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:6528045G>A ENST00000263125.5 - 9 951 c.852C>T c.(850-852)aaC>aaT p.N284N PRKCQ_ENST00000539722.1_Silent_p.N159N|PRKCQ_ENST00000397176.2_Silent_p.N284N NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 284 axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 TTAGCTTCTGGTTTATGCCAC 0.527000 10 40 0 0 0.000673444 0 0 PSG9 5678 broad.mit.edu 37 19 43762487 43762487 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:43762487C>T ENST00000244293.7 - 4 897 c.831G>A c.(829-831)ggG>ggA p.G277G PSG9_ENST00000596730.1_Silent_p.G184G|PSG9_ENST00000291752.5_Silent_p.G184G|PSG9_ENST00000270077.3_Silent_p.G370G|PSG9_ENST00000418820.2_Silent_p.G277G|PSG9_ENST00000443718.3_Silent_p.G277G|PSG9_ENST00000593948.1_Silent_p.G277G Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 277 Ig-like C2-type 2. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GCTGAAACTTCCCATTAATTG 0.443000 91 128 0 0 0.000781405 0 0 GPR65 8477 broad.mit.edu 37 14 88478080 88478080 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:88478080G>A ENST00000267549.3 + 2 1447 c.889G>A c.(889-891)Gga>Aga p.G297R RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 297 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 AACCGAAACAGGAAGATATGA 0.348000 26 40 0 0 0.000878237 0 0 DNAJC22 79962 broad.mit.edu 37 12 49742682 49742682 + Silent SNP T T C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:49742682T>C ENST00000549441.2 + 3 1231 c.27T>C c.(25-27)taT>taC p.Y9Y DNAJC22_ENST00000395069.3_Silent_p.Y9Y Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 9 protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 TGGTGACCTATGCCCTCTGGG 0.642000 13 51 0 0 0.000422831 0 0 CYP2C19 1557 broad.mit.edu 37 10 96612527 96612527 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:96612527G>A ENST00000371321.3 + 9 1411 c.1329G>A c.(1327-1329)atG>atA p.M443I CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 443 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TGGCCCGCATGGAGCTGTTTT 0.428000 8 52 0 0 0.000442599 0 0 ATP10B 23120 broad.mit.edu 37 5 160039886 160039886 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:160039886C>T ENST00000327245.5 - 18 3546 c.2700G>A c.(2698-2700)acG>acA p.T900T NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 900 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGTGGCAATCGTATCTGGAA 0.507000 20 11 0 0 0.000229342 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142480020 142480020 + RNA SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:142480020C>T ENST00000603901.1 + 0 152 NR_001296.3 TGCGGTGGCTCCCTCATCAGC 0.562000 31 152 0 0 0.00058488 0 0 LIN28B 389421 broad.mit.edu 37 6 105526589 105526589 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:105526589G>A ENST00000345080.4 + 4 887 c.684G>A c.(682-684)acG>acA p.T228T NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 228 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) CTTCCTCCACGAAGTCATCTA 0.488000 8 26 0 0 0.000673444 0 0 PIWIL4 143689 broad.mit.edu 37 11 94318641 94318641 + Silent SNP T T C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:94318641T>C ENST00000299001.6 + 6 877 c.666T>C c.(664-666)atT>atC p.I222I RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 222 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TGTACCAAATTGGACGGAACT 0.333000 30 120 0 0 0.00058488 0 0 TREH 11181 broad.mit.edu 37 11 118532427 118532427 + Nonsense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:118532427C>T ENST00000529101.1 - 6 581 c.536G>A c.(535-537)tGg>tAg p.W179* TREH_ENST00000525958.1_Intron|TREH_ENST00000397925.1_Intron|TREH_ENST00000264029.4_Nonsense_Mutation_p.W179*|TREH_ENST00000530256.1_Nonsense_Mutation_p.W56* O43280 TREA_HUMAN trehalase (brush-border membrane glycoprotein) 179 polysaccharide digestion|trehalose catabolic process anchored to plasma membrane alpha,alpha-trehalase activity NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.16e-05) CTCCATGACCCAGTAGGAGTC 0.632000 5 32 0 0 0.000602214 0 0 KCNQ1 3784 broad.mit.edu 37 11 2608915 2608915 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:2608915C>T ENST00000155840.5 + 9 1352 c.1244C>T c.(1243-1245)tCt>tTt p.S415F KCNQ1_ENST00000335475.5_Missense_Mutation_p.S288F NM_000218.2 NP_000209.2 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 1 415 blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) CCCAAGAAGTCTGTGGTGGTG 0.647000 34 164 0 0 0.00058488 0 0 POLL 27343 broad.mit.edu 37 10 103339317 103339317 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:103339317G>A ENST00000370162.3 - 9 2115 c.1621C>T c.(1621-1623)Cat>Tat p.H541Y POLL_ENST00000370172.1_Missense_Mutation_p.H453Y|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000339310.3_Missense_Mutation_p.H264Y|POLL_ENST00000370168.3_Missense_Mutation_p.H214Y|POLL_ENST00000370158.3_Missense_Mutation_p.H266Y|POLL_ENST00000456836.2_Missense_Mutation_p.H278Y|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.H541Y|POLL_ENST00000299206.4_Missense_Mutation_p.H541Y|DPCD_ENST00000416979.2_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 541 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) TTGCAGCCATGGGTGTTCCGG 0.617000 DNA polymerases (catalytic subunits) 16 28 0 0 0.00074312 0 0 SHANK3 85358 broad.mit.edu 37 22 51160649 51160649 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:51160649C>T ENST00000414786.2 + 21 4573 c.4346C>T c.(4345-4347)cCt>cTt p.P1449L SHANK3_ENST00000262795.3_Missense_Mutation_p.P1479L|SHANK3_ENST00000445220.2_Missense_Mutation_p.P1465L F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1479 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|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) BRCA - Breast invasive adenocarcinoma(115;0.22) CCTGCCCGCCCTCGCTACCTC 0.682000 13 12 0 0 0.000151284 0 0 YME1L1 10730 broad.mit.edu 37 10 27423048 27423048 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:27423048G>A ENST00000326799.3 - 8 1014 c.866C>T c.(865-867)tCc>tTc p.S289F YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Missense_Mutation_p.S232F|YME1L1_ENST00000375972.3_Missense_Mutation_p.S199F NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 289 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TCGCCTTAGGGAATCTAGGAG 0.318000 8 17 0 0 0.000157383 0 0 PAPOLB 56903 broad.mit.edu 37 7 4899799 4899799 + Nonsense_Mutation SNP A A T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:4899799A>T ENST00000404991.1 - 1 1826 c.1640T>A c.(1639-1641)tTg>tAg p.L547* RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 547 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) ACTGCTAATCAATGGGCCTGT 0.453000 60 83 0 0 0.000781405 0 0 RBM41 55285 broad.mit.edu 37 X 106312573 106312573 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:106312573G>A ENST00000372487.1 - 6 1013 c.987C>T c.(985-987)ttC>ttT p.F329F RBM41_ENST00000372479.3_Silent_p.F329F NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 329 RRM. nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 GGAACCGAGCGAACAATGACA 0.418000 70 35 0 0 0.000781405 0 0 DNAH8 1769 broad.mit.edu 37 6 38835886 38835886 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:38835886C>T ENST00000359357.3 + 46 6345 c.6091C>T c.(6091-6093)Ctt>Ttt p.L2031F DNAH8_ENST00000449981.2_Missense_Mutation_p.L2248F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1995F dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATTGAGGACTCTTGGATCTCA 0.363000 32 46 0 0 0.000491102 0 0 SLC12A6 9990 broad.mit.edu 37 15 34547529 34547529 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:34547529G>A ENST00000354181.3 - 8 1302 c.810C>T c.(808-810)ctC>ctT p.L270L SLC12A6_ENST00000458406.2_Silent_p.L211L|SLC12A6_ENST00000397702.2_Silent_p.L211L|SLC12A6_ENST00000397707.2_Silent_p.L255L|SLC12A6_ENST00000290209.5_Silent_p.L219L|SLC12A6_ENST00000451844.2_Silent_p.L82L|SLC12A6_ENST00000560611.1_Silent_p.L270L|SLC12A6_ENST00000558667.1_Silent_p.L270L|SLC12A6_ENST00000558589.1_Silent_p.L261L|SLC12A6_ENST00000560164.1_Silent_p.L82L|RP11-1084A12.2_ENST00000559867.1_RNA Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 270 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) GATAAAAGCAGAGGCCAACAG 0.443000 17 97 0 0 0.000422831 0 0 CD96 10225 broad.mit.edu 37 3 111368615 111368615 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:111368615G>A ENST00000352690.4 + 14 1912 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K CD96_ENST00000283285.5_Missense_Mutation_p.E574K NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 574 Pro-rich. cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 AGAGCCCAACGAAAGTGATCT 0.463000 Opitz Trigonocephaly syndrome 13 72 0 0 0.000219431 0 0 UNC5C 8633 broad.mit.edu 37 4 96137290 96137290 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:96137290C>T ENST00000453304.1 - 10 2066 c.1718G>A c.(1717-1719)aGg>aAg p.R573K UNC5C_ENST00000506749.1_Missense_Mutation_p.R592K NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 573 ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) AGTTTCTTTCCTGTGTACAGT 0.418000 11 39 0 0 0.000978159 0 0 PCLO 27445 broad.mit.edu 37 7 82581603 82581603 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:82581603G>A ENST00000423517.2 - 5 9003 c.8666C>T c.(8665-8667)tCc>tTc p.S2889F PCLO_ENST00000333891.8_Missense_Mutation_p.S2889F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2820 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GATTCCCTGGGATACGGTGCT 0.463000 49 111 0 0 0.000781405 0 0 TGM4 7047 broad.mit.edu 37 3 44943043 44943043 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:44943043C>T ENST00000296125.4 + 7 753 c.685C>T c.(685-687)Ctc>Ttc p.L229F NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 229 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CCAGGGCGTGCTCATTGGGAA 0.597000 4 8 0 0 0.00024832 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110497338 110497338 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:110497338C>T ENST00000378402.5 + 58 9746 c.9642C>T c.(9640-9642)atC>atT p.I3214I NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3214 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAAGAAGTATCGTTAAAATCC 0.328000 HNSCC(38;0.096) 40 47 0 0 0.00128727 0 0 CBLC 23624 broad.mit.edu 37 19 45284596 45284596 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:45284596C>T ENST00000270279.3 + 3 696 c.633C>T c.(631-633)ttC>ttT p.F211F CBLC_ENST00000341505.4_Silent_p.F211F NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 211 Cbl-PTB.|EF-hand-like. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) TCTTCGAGTTCGACGTCTTCA 0.612000 M AML 67 237 0 0 0.000781405 0 0 GRIK3 2899 broad.mit.edu 37 1 37267569 37267569 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:37267569C>T ENST00000373091.3 - 16 2659 c.2643G>A c.(2641-2643)caG>caA p.Q881Q NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 881 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TCATGGGAGGCTGAGGCTTGT 0.592000 10 9 0 0 0.000673444 0 0 OR14K1 343170 broad.mit.edu 37 1 247902770 247902770 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:247902770C>T ENST00000283225.2 + 1 854 c.854C>T c.(853-855)cCt>cTt p.P285L RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 ACCTTGAACCCTGTTATCTAC 0.433000 29 43 0 0 0.000339439 0 0 MSR1 4481 broad.mit.edu 37 8 16007812 16007812 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:16007812C>T ENST00000350896.3 - 7 1104 c.907G>A c.(907-909)Ggt>Agt p.G303S MSR1_ENST00000355282.2_Missense_Mutation_p.G303S|MSR1_ENST00000536385.1_Missense_Mutation_p.G77S|MSR1_ENST00000262101.5_Missense_Mutation_p.G303S|MSR1_ENST00000381998.4_Missense_Mutation_p.G303S|MSR1_ENST00000445506.2_Missense_Mutation_p.G321S NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 303 Collagen-like. 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 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) CCTTTAAGACCCGGAGGACCT 0.368000 10 52 0 0 0.000151284 0 0 RADIL 55698 broad.mit.edu 37 7 4917240 4917240 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:4917240C>T ENST00000399583.3 - 2 718 c.531G>A c.(529-531)acG>acA p.T177T RADIL_ENST00000536091.1_Silent_p.T177T NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 177 cell adhesion|multicellular organismal development|signal transduction protein binding p.T177I(1) NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CCTCACCTGCCGTGATGGTGT 0.612000 11 47 0 0 0.000219431 0 0 TPK1 27010 broad.mit.edu 37 7 144364830 144364830 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:144364830G>A ENST00000538212.2 - 3 229 c.159C>T c.(157-159)atC>atT p.I53I TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000360057.3_Intron|TPK1_ENST00000378099.3_Intron Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 0 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) tctcgtttccgataaaagagt 0.463000 25 56 0 0 0.000586117 0 0 DRAM1 55332 broad.mit.edu 37 12 102302061 102302061 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:102302061C>T ENST00000258534.8 + 4 879 c.440C>T c.(439-441)tCa>tTa p.S147L DRAM1_ENST00000544152.1_Intron NM_018370.2 NP_060840.2 Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 147 apoptosis|autophagy integral to membrane|lysosomal membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 TCTTACAAATCATGTCCCCAG 0.512000 17 82 0 0 0.00074312 0 0 CCER1 196477 broad.mit.edu 37 12 91347568 91347568 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:91347568C>T ENST00000358859.2 - 1 1385 c.952G>A c.(952-954)Gag>Aag p.E318K CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 tcttcttcctcctcatcttcg 0.547000 7 20 0 0 8.12818e-05 0 0 PRLR 5618 broad.mit.edu 37 5 35072715 35072715 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:35072715C>T ENST00000382002.5 - 6 931 c.505G>A c.(505-507)Gaa>Aaa p.E169K PRLR_ENST00000348262.3_Missense_Mutation_p.E169K|PRLR_ENST00000342362.5_Missense_Mutation_p.E68K|PRLR_ENST00000542609.1_Missense_Mutation_p.E169K|PRLR_ENST00000310101.5_Missense_Mutation_p.E169K|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000231423.3_Missense_Mutation_p.E169K|PRLR_ENST00000397391.3_Missense_Mutation_p.E98K|PRLR_ENST00000511486.1_Missense_Mutation_p.E68K|PRLR_ENST00000513753.1_Missense_Mutation_p.E169K NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 169 Fibronectin type-III 2. activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AATCGAATTTCATACAGGAGC 0.443000 14 58 0 0 0.000422831 0 0 CYLC2 1539 broad.mit.edu 37 9 105767007 105767007 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:105767007C>T ENST00000374798.3 + 4 281 c.211C>T c.(211-213)Cgt>Tgt p.R71C CYLC2_ENST00000487798.1_Missense_Mutation_p.R71C NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 71 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton p.R71C(2) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) AAGAGGAGATCGTAGACAACC 0.363000 22 15 0 0 0.000586117 0 0 C16orf71 146562 broad.mit.edu 37 16 4786528 4786528 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:4786528G>A ENST00000299320.5 + 2 491 c.13G>A c.(13-15)Gat>Aat p.D5N RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.D5N NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 5 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 GGCATCCAACGATAAAGGCAT 0.622000 12 30 0 0 0.000308642 0 0 CPN2 1370 broad.mit.edu 37 3 194062895 194062895 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:194062895G>A ENST00000323830.3 - 2 626 c.537C>T c.(535-537)aaC>aaT p.N179N CPN2_ENST00000429275.1_Silent_p.N179N NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 179 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GGGCCAGGAGGTTCTGGGCCA 0.647000 9 28 0 0 0.000442599 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54920345 54920345 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:54920345G>A ENST00000293373.6 + 21 2269 c.2190G>A c.(2188-2190)acG>acA p.T730T NCKAP1L_ENST00000545638.2_Silent_p.T680T NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 730 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 ACAATGCCACGACCCAGGAGA 0.433000 32 49 0 0 0.000491102 0 0 COL19A1 1310 broad.mit.edu 37 6 70847578 70847578 + Splice_Site SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:70847578G>A ENST00000322773.4 + 19 1487 c.1383_splice c.e19-1 p.G462_splice COL19A1_ENST00000393344.1_Splice_Site_p.G84_splice NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 462 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TCTTGAAAGGGTGAAACTGGA 0.408000 28 88 0 0 0.000814825 0 0 SI 6476 broad.mit.edu 37 3 164733005 164733005 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:164733005C>T ENST00000264382.3 - 33 3967 c.3905G>A c.(3904-3906)gGa>gAa p.G1302E NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1302 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGTTTCATTTCCTGAAATTGC 0.348000 HNSCC(35;0.089) 6 20 0 0 8.12818e-05 0 0 DEF8 54849 broad.mit.edu 37 16 90025448 90025448 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:90025448C>T ENST00000563594.1 + 6 1396 c.399C>T c.(397-399)atC>atT p.I133I DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000569453.1_Silent_p.I133I|DEF8_ENST00000563795.1_Silent_p.I133I|DEF8_ENST00000570182.1_Silent_p.I123I|DEF8_ENST00000418391.2_Silent_p.I133I|DEF8_ENST00000268676.7_Silent_p.I194I|DEF8_ENST00000567874.1_Silent_p.I73I NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 194 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) AGCCAAACATCCGAGTGCTCC 0.557000 46 60 0 0 0.000781405 0 0 OXR1 55074 broad.mit.edu 37 8 107751735 107751735 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:107751735C>T ENST00000445937.1 + 12 2267 c.2006C>T c.(2005-2007)gCa>gTa p.A669V OXR1_ENST00000452423.2_Intron|OXR1_ENST00000517566.2_Missense_Mutation_p.A696V|OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000531443.1_Missense_Mutation_p.A669V|OXR1_ENST00000312046.6_Missense_Mutation_p.A662V|OXR1_ENST00000449762.2_Missense_Mutation_p.A39V|OXR1_ENST00000442977.2_Missense_Mutation_p.A697V|OXR1_ENST00000297447.6_Missense_Mutation_p.A66V NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 697 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) ACAGTGAAAGCAGACCTGGAG 0.378000 22 41 0 0 0.000586117 0 0 SDE2 163859 broad.mit.edu 37 1 226180687 226180687 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:226180687G>A ENST00000366817.1 - 3 264 c.101C>T c.(100-102)tCc>tTc p.S34F SDE2_ENST00000272091.7_Silent_p.L85L SDE2 telomere maintenance homolog (S. pombe) CAAGTGCTCGGAGCATAGATC 0.423000 11 50 0 0 0.00136819 0 0 CBX8 57332 broad.mit.edu 37 17 77768994 77768994 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:77768994G>A ENST00000269385.4 - 5 727 c.610C>T c.(610-612)Cgg>Tgg p.R204W NM_020649.2 NP_065700.1 Q9HC52 CBX8_HUMAN chromobox homolog 8 204 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AGCTCCTTCCGGGGCTTGGGG 0.672000 9 27 0 0 0.000442599 0 0 ERMAP 114625 broad.mit.edu 37 1 43296563 43296563 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:43296563C>T ENST00000372517.2 + 4 454 c.210C>T c.(208-210)ttC>ttT p.F70F ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Silent_p.F70F|ERMAP_ENST00000328249.3_5'UTR NM_001017922.1 NP_001017922.1 Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein (Scianna blood group) 70 Ig-like V-type. integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGTCCCCATTCCCGCAGCGCT 0.622000 9 7 0 0 0.000673444 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815088 106815088 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:106815088C>T ENST00000407775.2 + 8 3028 c.2778C>T c.(2776-2778)tcC>tcT p.S926S RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Silent_p.S794S|ZFPM2_ENST00000378472.4_Silent_p.S657S|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.S794S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 926 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGCAGCCTTCCCCCAATGGAA 0.428000 8 22 0 0 0.000157383 0 0 MUC16 94025 broad.mit.edu 37 19 8995663 8995663 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:8995663C>T ENST00000397910.4 - 63 41528 c.41325G>A c.(41323-41325)aaG>aaA p.K13775K MUC16_ENST00000380951.5_Silent_p.K416K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13777 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGCTGGAGTCTTAGATGCTC 0.488000 5 18 0 0 0.000602214 0 0 LYZ 4069 broad.mit.edu 37 12 69746970 69746970 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:69746970C>T ENST00000261267.2 + 4 486 c.418C>T c.(418-420)Cgt>Tgt p.R140C LYZ_ENST00000549690.1_Silent_p.S113S NM_000239.2 NP_000230.1 P61626 LYSC_HUMAN lysozyme 140 cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response extracellular space lysozyme activity|protein binding p.R140S(2) endometrium(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187) Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) CAGAGATGTCCGTCAGTATGT 0.378000 21 84 0 0 0.000720815 0 0 LIPE 3991 broad.mit.edu 37 19 42931223 42931223 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:42931223G>A ENST00000244289.4 - 1 355 c.79C>T c.(79-81)Cct>Tct p.P27S LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 27 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TCTGGCCCAGGCTCTAGCGGG 0.532000 27 37 0 0 0.000339439 0 0 KCNJ9 3765 broad.mit.edu 37 1 160054185 160054185 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:160054185G>A ENST00000368088.3 + 2 607 c.365G>A c.(364-366)gGc>gAc p.G122D NM_004983.2 NP_004974.2 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel, subfamily J, member 9 122 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACCACCATCGGCTACGGGCAC 0.657000 8 35 0 0 0.000157383 0 0 EXD1 161829 broad.mit.edu 37 15 41483671 41483671 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:41483671G>A ENST00000314992.5 - 8 849 c.659C>T c.(658-660)tCc>tTc p.S220F EXD1_ENST00000458580.2_Missense_Mutation_p.S278F NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 220 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 TTCTAGAAAGGAGAGATATTT 0.383000 9 61 0 0 0.000673444 0 0 PI16 221476 broad.mit.edu 37 6 36931063 36931063 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:36931063C>T ENST00000373674.3 + 5 1273 c.945C>T c.(943-945)atC>atT p.I315I PI16_ENST00000491324.1_Intron NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 315 extracellular region|integral to membrane peptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATGTTCCTATCCCAAAATCAG 0.527000 15 40 0 0 0.00152264 0 0 CAMK2G 818 broad.mit.edu 37 10 75608802 75608802 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:75608802G>A ENST00000423381.1 - 7 609 c.486C>T c.(484-486)atC>atT p.I162I CAMK2G_ENST00000351293.3_Silent_p.I162I|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Silent_p.I162I|CAMK2G_ENST00000305762.7_Silent_p.I162I|CAMK2G_ENST00000322680.3_Silent_p.I162I|CAMK2G_ENST00000322635.3_Silent_p.I162I|CAMK2G_ENST00000372765.1_Silent_p.I162I NM_001204492.1 NP_001191421.1 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II gamma 162 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) CCTGTACTTCGATGGCTAGGC 0.562000 OREG0020267 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 33 0 0 0.000958276 0 0 C2orf71 388939 broad.mit.edu 37 2 29294562 29294562 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:29294562C>T ENST00000331664.5 - 1 2565 c.2566G>A c.(2566-2568)Gag>Aag p.E856K NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 856 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 GGGGAGTTCTCTGTGGACTTG 0.602000 33 52 0 0 0.000491102 0 0 BPI 671 broad.mit.edu 37 20 36954768 36954768 + Silent SNP C C T rs144501421 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:36954768C>T ENST00000262865.4 + 10 1196 c.1107C>T c.(1105-1107)gcC>gcT p.A369A BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 369 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) TCTACCCTGCCGTGGATGTCC 0.582000 8 24 0 0 0.000157383 0 0 ASAH2 56624 broad.mit.edu 37 10 52002964 52002964 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:52002964C>T ENST00000395526.3 - 3 507 c.508G>A c.(508-510)Gag>Aag p.E170K ASAH2_ENST00000447815.1_Missense_Mutation_p.E170K|ASAH2_ENST00000329428.6_Missense_Mutation_p.E151K NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 170 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 TCACTTACCTCCAGCCTGAGC 0.428000 21 73 0 0 0.000229342 0 0 KIAA0020 9933 broad.mit.edu 37 9 2837296 2837296 + Missense_Mutation SNP T T C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:2837296T>C ENST00000397885.2 - 3 394 c.188A>G c.(187-189)aAg>aGg p.K63R NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 63 endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) CTTTACACCCTTTTTCCCAAG 0.388000 5 182 0 0 0.000602214 0 0 PLCB4 5332 broad.mit.edu 37 20 9288477 9288477 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:9288477G>A ENST00000378501.2 + 1 31 c.16G>A c.(16-18)Gaa>Aaa p.E6K PLCB4_ENST00000334005.3_Missense_Mutation_p.E6K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E6K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.E6K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E6K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E6K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 6 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CAAACCTTATGAATTTAACTG 0.333000 10 31 0 0 0.000978159 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101762046 101762046 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:101762046C>T ENST00000334289.3 - 9 1726 c.1131G>A c.(1129-1131)atG>atA p.M377I NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 377 Fibrinogen C-terminal. signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) TTCTAATTTTCATTGAAACAG 0.294000 25 46 0 0 0.000586117 0 0 CABP1 9478 broad.mit.edu 37 12 121098114 121098114 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:121098114C>T ENST00000453000.1 + 3 1121 c.609C>T c.(607-609)atC>atT p.I203I CABP1_ENST00000351200.2_Silent_p.I64I|CABP1_ENST00000316803.3_Silent_p.I267I|CABP1_ENST00000288616.3_Silent_p.I124I Q9NZU7 CABP1_HUMAN calcium binding protein 1 267 cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGGAGCTCATCGAACTGTCCC 0.567000 104 138 0 0 0.000781405 0 0 LINC00207 388910 broad.mit.edu 37 22 44966447 44966447 + RNA SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:44966447G>A ENST00000605505.1 + 0 225 NR_028409.1 lung(3) 3 AACCAGAGGGGAACACCGTGC 0.507000 5 5 0 0 8.12818e-05 0 0 KIF21B 23046 broad.mit.edu 37 1 200972894 200972894 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:200972894G>A ENST00000332129.2 - 8 1348 c.1032C>T c.(1030-1032)atC>atT p.I344I KIF21B_ENST00000422435.2_Silent_p.I344I|KIF21B_ENST00000461742.2_Silent_p.I344I|KIF21B_ENST00000360529.5_Silent_p.I344I NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 344 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TCACACAGGCGATCATGATGG 0.567000 12 56 0 0 0.000151284 0 0 SLC52A3 113278 broad.mit.edu 37 20 742387 742387 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:742387G>A ENST00000381944.3 - 4 1396 c.1155C>T c.(1153-1155)ccC>ccT p.P385P SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Silent_p.P385P Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 385 sensory perception of sound integral to plasma membrane riboflavin transporter activity AGAGGGGGCAGGGGCTCATCA 0.647000 7 13 0 0 8.12818e-05 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52002861 52002861 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:52002861C>T ENST00000291707.3 - 3 973 c.918G>A c.(916-918)acG>acA p.T306T SIGLEC12_ENST00000598614.1_Silent_p.T188T NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 306 Ig-like C2-type 1. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TCCAGGTGATCGTGGGGGGCG 0.667000 18 26 0 0 0.000958276 0 0 PNLIP 5406 broad.mit.edu 37 10 118306870 118306870 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:118306870G>A ENST00000369221.2 + 3 139 c.111G>A c.(109-111)acG>acA p.T37T PNLIP_ENST00000470562.1_3'UTR NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 37 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) CAGGAATTACGGAAAGACCCC 0.428000 14 44 0 0 0.000422831 0 0 OR5H2 79310 broad.mit.edu 37 3 98002360 98002360 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:98002360C>T ENST00000355273.2 + 1 629 c.629C>T c.(628-630)tCa>tTa p.S210L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TTGTCTGGCTCAATTCAGGTA 0.318000 9 40 0 0 0.000274275 0 0 KIF13A 63971 broad.mit.edu 37 6 17834269 17834269 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:17834269C>T ENST00000378814.5 - 12 1188 c.1189G>A c.(1189-1191)Gaa>Aaa p.E397K KIF13A_ENST00000378816.5_Missense_Mutation_p.E397K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E397K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E397K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E397K NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 397 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TCAGACTCTTCGAGCTTCTCC 0.383000 7 26 0 0 0.000274275 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50464043 50464043 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:50464043C>T ENST00000447370.2 - 2 316 c.226G>A c.(226-228)Gga>Aga p.G76R SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G76R NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 76 Ig-like V-type. 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) CTGGTCCGTCCTTTGAACCAG 0.607000 12 24 0 0 0.00136819 0 0 TRAV8-4 28682 broad.mit.edu 37 14 22363157 22363157 + RNA SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:22363157G>A ENST00000390438.2 + 0 416 TCCACCTGACGAAACCCTCAG 0.507000 20 42 0 0 0.00121646 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74880348 74880348 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:74880348C>T ENST00000289575.5 + 5 974 c.579C>T c.(577-579)ttC>ttT p.F193F SLCO2B1_ENST00000525650.1_Silent_p.F49F|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000428359.2_Silent_p.F171F|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000532236.1_Silent_p.F77F|SLCO2B1_ENST00000531756.1_Intron NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 193 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) GGATCATGTTCGTGGCACAGA 0.612000 30 31 0 0 0.000339439 0 0 PMFBP1 83449 broad.mit.edu 37 16 72184683 72184683 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:72184683C>T ENST00000537465.1 - 5 618 c.460G>A c.(460-462)Ggg>Agg p.G154R PMFBP1_ENST00000237353.10_Missense_Mutation_p.G154R|PMFBP1_ENST00000355636.6_Missense_Mutation_p.G9R Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 154 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) AGCTTCTCCCCTGTGTTCTCG 0.493000 36 45 0 0 0.00170553 0 0 B3GNT1 11041 broad.mit.edu 37 11 66113990 66113990 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:66113990G>A ENST00000311181.4 - 1 1173 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W NM_006876.2 NP_006867.1 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 343 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 CCGTACTGCCGAAAGCGCTCG 0.622000 23 33 0 0 0.000878237 0 0 TIMMDC1 51300 broad.mit.edu 37 3 119219648 119219648 + Nonsense_Mutation SNP A A T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:119219648A>T ENST00000494664.1 + 2 503 c.301A>T c.(301-303)Aaa>Taa p.K101* TIMMDC1_ENST00000493694.1_Intron NM_016589.3 NP_057673.2 Q9NPL8 TIDC1_HUMAN translocase of inner mitochondrial membrane domain containing 1 101 integral to membrane|mitochondrial inner membrane protein transporter activity autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 TATTCATGCTAAACAACAATA 0.433000 15 31 0 0 0.00074312 0 0 KRT72 140807 broad.mit.edu 37 12 52994971 52994971 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:52994971G>A ENST00000293745.2 - 1 351 c.266C>T c.(265-267)cCc>cTc p.P89L KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000537672.2_Missense_Mutation_p.P89L|KRT72_ENST00000354310.4_Missense_Mutation_p.P89L NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 89 Gly-rich.|Head. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) GCACACGGAGGGACACTTGGG 0.736000 5 12 0 0 0.00116845 0 0 LIFR 3977 broad.mit.edu 37 5 38482087 38482087 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:38482087C>T ENST00000263409.4 - 20 3066 c.2904G>A c.(2902-2904)ggG>ggA p.G968G LIFR_ENST00000453190.2_Silent_p.G968G NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 968 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) CCTGTGCAGTCCCTCCAGCTT 0.468000 T PLAG1 salivary adenoma 38 120 0 0 0.00170553 0 0 SLC24A3 57419 broad.mit.edu 37 20 19665880 19665880 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:19665880G>A ENST00000328041.6 + 12 1396 c.1199G>A c.(1198-1200)aGg>aAg p.R400K NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 400 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GGGACACGGAGGGACGATGTT 0.537000 12 44 0 0 0.000978159 0 0 COL10A1 1300 broad.mit.edu 37 6 116442962 116442962 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:116442962C>T ENST00000327673.4 - 2 724 c.317G>A c.(316-318)gGg>gAg p.G106E COL10A1_ENST00000243222.4_Missense_Mutation_p.G106E|AL121963.1_ENST00000430695.1_Missense_Mutation_p.P115S|NT5DC1_ENST00000319550.4_Intron Q03692 COAA1_HUMAN collagen, type X, alpha 1 106 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) ACCTGGTTTCCCTACAGCTGA 0.602000 5 25 0 0 8.12818e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9084523 9084523 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:9084523G>A ENST00000397910.4 - 1 7495 c.7292C>T c.(7291-7293)tCc>tTc p.S2431F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2431 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTGTTACTGGAAACAGATGG 0.512000 17 18 0 0 0.00121646 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024592 55024592 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr18:55024592C>T ENST00000324000.3 + 3 2785 c.751C>T c.(751-753)Cac>Tac p.H251Y NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 251 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) ATTTTTCTTCCACACTTCAGC 0.403000 32 22 0 0 0.000339439 0 0 BANK1 55024 broad.mit.edu 37 4 102783700 102783700 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:102783700C>T ENST00000504592.1 + 8 1015 c.597C>T c.(595-597)ttC>ttT p.F199F BANK1_ENST00000322953.4_Silent_p.F214F|BANK1_ENST00000508653.1_Silent_p.F81F|BANK1_ENST00000444316.2_Silent_p.F184F|BANK1_ENST00000428908.1_Silent_p.F81F Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 214 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GTGAAATATTCATAATTTTGA 0.318000 15 39 0 0 0.000422831 0 0 PPFIA2 8499 broad.mit.edu 37 12 81734965 81734965 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:81734965C>T ENST00000550584.2 - 19 2580 c.2285G>A c.(2284-2286)gGt>gAt p.G762D PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G663D|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G744D|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G688D|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G762D|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G762D|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G762D|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G329D|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G744D|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G609D NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 688 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GTCCTCTCGACCATCTTCTTC 0.393000 19 45 0 0 0.000958276 0 0 GRM3 2913 broad.mit.edu 37 7 86415831 86415831 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:86415831C>T ENST00000361669.2 + 3 1822 c.723C>T c.(721-723)atC>atT p.I241I GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Silent_p.I239I|GRM3_ENST00000536043.1_Silent_p.I113I|GRM3_ENST00000439827.1_Silent_p.I241I|AC005009.2_ENST00000418031.1_RNA NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 241 synaptic transmission integral to plasma membrane p.I241I(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ACATCTGCATCGCTACGGCGG 0.617000 36 41 0 0 0.000814825 0 0 SFXN4 119559 broad.mit.edu 37 10 120917223 120917223 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:120917223G>A ENST00000355697.2 - 9 513 c.494C>T c.(493-495)tCa>tTa p.S165L SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.S156L NM_213649.1 NP_998814.1 Q6P4A7 SFXN4_HUMAN sideroflexin 4 165 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 11 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) CATTAGTAATGATCTTTCTAG 0.333000 8 33 0 0 0.000308642 0 0 GRM5 2915 broad.mit.edu 37 11 88337902 88337902 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:88337902C>T ENST00000418177.2 - 5 1745 c.1378G>A c.(1378-1380)Gga>Aga p.G460R GRM5_ENST00000305432.5_Missense_Mutation_p.G460R|GRM5_ENST00000305447.4_Missense_Mutation_p.G460R|GRM5_ENST00000455756.2_Missense_Mutation_p.G460R|GRM5_ENST00000393297.1_Missense_Mutation_p.G460R P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 460 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GGAGAGTCTCCATTCTCATCG 0.428000 7 18 0 0 8.12818e-05 0 0 PIGO 84720 broad.mit.edu 37 9 35095429 35095429 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:35095429G>A ENST00000378617.3 - 2 528 c.134C>T c.(133-135)cCa>cTa p.P45L PIGO_ENST00000361778.2_Missense_Mutation_p.P45L|PIGO_ENST00000298004.5_Missense_Mutation_p.P45L|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000341666.3_Missense_Mutation_p.P45L NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 45 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CCCAGGGCCTGGGGGCTCTTG 0.607000 20 6 0 0 0.000295444 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764132 92764132 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:92764132C>T ENST00000318238.4 - 5 2369 c.1153G>A c.(1153-1155)Gga>Aga p.G385R SAMD9L_ENST00000437805.1_Missense_Mutation_p.G385R|SAMD9L_ENST00000411955.1_Missense_Mutation_p.G385R NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 385 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GCCTTCATTCCATACTCTTCT 0.393000 68 180 0 0 0.000781405 0 0 ANKEF1 63926 broad.mit.edu 37 20 10030179 10030179 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:10030179C>T ENST00000378380.3 + 6 1291 c.962C>T c.(961-963)cCa>cTa p.P321L ANKEF1_ENST00000378392.1_Missense_Mutation_p.P321L|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 GCCAAAAATCCAAATCCACTG 0.527000 36 40 0 0 0.00058488 0 0 TMEM132E 124842 broad.mit.edu 37 17 32963172 32963172 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:32963172C>T ENST00000321639.5 + 9 2182 c.1854C>T c.(1852-1854)atC>atT p.I618I NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 618 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GCCACACCATCCTAGCCACCA 0.622000 10 12 0 0 0.000151284 0 0 SCN9A 6335 broad.mit.edu 37 2 167108351 167108351 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:167108351G>A ENST00000375387.4 - 18 3739 c.3399C>T c.(3397-3399)aaC>aaT p.N1133N SCN9A_ENST00000303354.6_Silent_p.N1133N|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.N1121N|SCN9A_ENST00000409435.1_Silent_p.N1132N Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1132 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CAGGCAAAGGGTTATCAACTG 0.453000 15 18 0 0 0.000219431 0 0 CPZ 8532 broad.mit.edu 37 4 8621144 8621144 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:8621144G>A ENST00000429646.2 + 9 3376 c.583G>A c.(583-585)Gga>Aga p.G195R CPZ_ENST00000315782.6_Missense_Mutation_p.G576R|CPZ_ENST00000360986.4_Missense_Mutation_p.G587R|CPZ_ENST00000382480.2_Missense_Mutation_p.G450R Q66K79 CBPZ_HUMAN carboxypeptidase Z 587 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TCTGGGGATGGGACCCAAGAA 0.627000 11 36 0 0 0.00136819 0 0 LYVE1 10894 broad.mit.edu 37 11 10585851 10585851 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:10585851C>T ENST00000256178.3 - 2 314 c.156G>A c.(154-156)ctG>ctA p.L52L MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_Intron|LYVE1_ENST00000529598.1_Intron|MRVI1-AS1_ENST00000529829.1_RNA NM_006691.3 NP_006682.2 Q9Y5Y7 LYVE1_HUMAN lymphatic vessel endothelial hyaluronan receptor 1 52 Link. anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport integral to plasma membrane|membrane fraction central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609) CTGTGAAATTCAGCTGCTGGT 0.483000 15 37 0 0 0.000219431 0 0 PANK4 55229 broad.mit.edu 37 1 2445459 2445459 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:2445459G>A ENST00000378466.3 - 12 1569 c.1557C>T c.(1555-1557)ttC>ttT p.F519F PANK4_ENST00000435556.3_Silent_p.F480F NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 519 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) AGGGATCCGGGAAGTTGAACT 0.652000 59 55 0 0 0.000781405 0 0 OR1A1 8383 broad.mit.edu 37 17 3119386 3119386 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:3119386C>T ENST00000304094.1 + 1 472 c.472C>T c.(472-474)Ccc>Tcc p.P158S NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 CAATGCCCTCCCCCACACTCT 0.512000 22 46 0 0 0.000229342 0 0 TEKT1 83659 broad.mit.edu 37 17 6716370 6716370 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:6716370G>A ENST00000338694.2 - 6 761 c.632C>T c.(631-633)tCc>tTc p.S211F TEKT1_ENST00000535086.1_Missense_Mutation_p.S65F NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 211 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) CAGACTCACGGAGCTGAAACA 0.547000 13 23 0 0 0.000308642 0 0 OBSCN 84033 broad.mit.edu 37 1 228487703 228487703 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:228487703C>T ENST00000570156.2 + 51 13669 c.13595C>T c.(13594-13596)aCc>aTc p.T4532I OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000602685.1_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366707.4_Missense_Mutation_p.T1222I NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3575 Fibronectin type-III 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGCCCAACACCCTCAAAGAT 0.552000 27 20 0 0 0.000720815 0 0 EVC2 132884 broad.mit.edu 37 4 5687164 5687164 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:5687164G>A ENST00000310917.2 - 6 1240 c.509C>T c.(508-510)gCt>gTt p.A170V EVC2_ENST00000344408.5_Missense_Mutation_p.A250V|EVC2_ENST00000344938.1_Missense_Mutation_p.A250V NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 250 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 GAGGTCTCCAGCCTGGAGCGT 0.587000 13 58 0 0 0.000151284 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47558509 47558509 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:47558509C>T ENST00000371917.4 + 3 261 c.261C>T c.(259-261)tcC>tcT p.S87S NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 87 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TCAGCACATCCCTTGACTGCT 0.502000 16 51 0 0 0.000422831 0 0 TG 7038 broad.mit.edu 37 8 134144179 134144179 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:134144179C>T ENST00000220616.4 + 46 8026 c.7986C>T c.(7984-7986)ttC>ttT p.F2662F TG_ENST00000519543.1_Silent_p.F795F|TG_ENST00000542445.1_Silent_p.F1032F|TG_ENST00000377869.1_Silent_p.F2605F NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2662 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTTCCCACTTCATCAGATCAG 0.493000 22 69 0 0 0.00047179 0 0 PDE4D 5144 broad.mit.edu 37 5 58289244 58289244 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:58289244G>A ENST00000340635.6 - 7 1145 c.970C>T c.(970-972)Cgg>Tgg p.R324W PDE4D_ENST00000502484.2_Missense_Mutation_p.R263W|PDE4D_ENST00000405755.2_Missense_Mutation_p.R202W|PDE4D_ENST00000546160.1_Missense_Mutation_p.R263W|PDE4D_ENST00000317118.8_Missense_Mutation_p.R33W|PDE4D_ENST00000507116.1_Missense_Mutation_p.R260W|PDE4D_ENST00000358923.6_Missense_Mutation_p.R22W|PDE4D_ENST00000360047.5_Missense_Mutation_p.R188W|PDE4D_ENST00000503258.1_Missense_Mutation_p.R194W NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 324 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) TTTCCAGACCGACTCATTTCA 0.318000 39 28 0 0 0.000781405 0 0 CFAP54 144535 broad.mit.edu 37 12 97114192 97114192 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:97114192C>T ENST00000524981.3 + 17 2167 c.2167C>T c.(2167-2169)Ctg>Ttg p.L723L Q6ZTY8 CL063_HUMAN 697 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GTCGATGTTACTGATGGAAGC 0.443000 9 23 0 0 0.000274275 0 0 ABCB5 340273 broad.mit.edu 37 7 20782554 20782554 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:20782554C>T ENST00000404938.2 + 25 3731 c.3079C>T c.(3079-3081)Cgc>Tgc p.R1027C ABCB5_ENST00000258738.6_Missense_Mutation_p.R582C NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 582 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CTATCCATGTCGCCCAGATGT 0.468000 21 52 0 0 0.000375601 0 0 KRT24 192666 broad.mit.edu 37 17 38857515 38857515 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:38857515C>T ENST00000264651.2 - 3 788 c.732G>A c.(730-732)gtG>gtA p.V244V NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 244 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) TGTCAGCCTCCACGCTCTGCC 0.542000 14 13 0 0 0.000151284 0 0 RIMS2 9699 broad.mit.edu 37 8 105263362 105263362 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:105263362G>A ENST00000507740.1 + 21 3480 c.3244G>A c.(3244-3246)Gaa>Aaa p.E1082K RIMS2_ENST00000262231.10_Missense_Mutation_p.E1107K|RIMS2_ENST00000339750.2_Missense_Mutation_p.E204K|RIMS2_ENST00000406091.3_Missense_Mutation_p.E1268K|RIMS2_ENST00000436393.2_Missense_Mutation_p.E1286K NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1330 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATTATCTTTCGAAGAGAGTCC 0.368000 HNSCC(12;0.0054) 13 17 0 0 0.000219431 0 0 GYS1 2997 broad.mit.edu 37 19 49473833 49473833 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:49473833G>A ENST00000323798.3 - 14 1975 c.1779C>T c.(1777-1779)tcC>tcT p.S593S GYS1_ENST00000541188.1_Silent_p.S513S|GYS1_ENST00000544287.1_Silent_p.S226S|GYS1_ENST00000263276.6_Silent_p.S529S NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 593 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CCAGAAGGTCGGAGAGGCGCT 0.597000 OREG0025611 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 17 0 0 0.000602214 0 0 SDK2 54549 broad.mit.edu 37 17 71346892 71346892 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:71346892G>A ENST00000392650.3 - 42 5796 c.5796C>T c.(5794-5796)ttC>ttT p.F1932F SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.F1913F NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1932 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 TGACCACCAAGAACCACCACT 0.552000 23 59 0 0 0.00106085 0 0 INPP5D 3635 broad.mit.edu 37 2 234102595 234102595 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:234102595G>A ENST00000359570.5 + 25 2548 c.2548G>A c.(2548-2550)Gag>Aag p.E850K INPP5D_ENST00000455936.2_Missense_Mutation_p.E614K|INPP5D_ENST00000450745.1_Missense_Mutation_p.E614K Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 862 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CAAGACGAGGGAGAAGCTCTA 0.592000 7 15 0 0 0.000157383 0 0 SLIT3 6586 broad.mit.edu 37 5 168119619 168119619 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:168119619C>T ENST00000519560.1 - 29 3588 c.3169G>A c.(3169-3171)Gga>Aga p.G1057R SLIT3_ENST00000332966.8_Missense_Mutation_p.G1064R|SLIT3_ENST00000404867.3_Missense_Mutation_p.G1057R NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1057 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TACCTGAATCCTTTGTCCAGG 0.547000 31 21 0 0 0.00178596 0 0 APRT 353 broad.mit.edu 37 16 88876893 88876893 + Missense_Mutation SNP G G C rs3169258 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:88876893G>C ENST00000378364.3 - 3 303 c.259C>G c.(259-261)Cga>Gga p.R87G APRT_ENST00000426324.2_Missense_Mutation_p.R87G|APRT_ENST00000563655.1_Intron NM_000485.2 NP_000476.1 P07741 APT_HUMAN adenine phosphoribosyltransferase 87 purine ribonucleoside salvage cytosol|nucleus adenine phosphoribosyltransferase activity|AMP binding|protein binding cervix(1)|endometrium(1)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(80;0.0477) Adenine(DB00173)|Adenosine monophosphate(DB00131) CCCCGCTTTCGGATGAGCACG 0.647000 10 15 0 0 0.000673444 0 0 STAB1 23166 broad.mit.edu 37 3 52556577 52556577 + Missense_Mutation SNP G G A rs148752341 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:52556577G>A ENST00000321725.6 + 61 6693 c.6617G>A c.(6616-6618)cGg>cAg p.R2206Q NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2206 Link. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCAGAGAAACGGGCTGGCGTT 0.612000 13 47 0 0 0.00074312 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 65 49 0 0 0.000781405 0 0 C12orf42 374470 broad.mit.edu 37 12 103762667 103762667 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:103762667G>A ENST00000548048.1 - 7 552 c.56C>T c.(55-57)cCa>cTa p.P19L C12orf42_ENST00000315192.8_Missense_Mutation_p.P86L|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.P86L|C12orf42_ENST00000378113.2_Missense_Mutation_p.P86L Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 86 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 TAATTTACCTGGAAAATTCAG 0.343000 6 3 0 0 0.00116845 0 0 GJA5 2702 broad.mit.edu 37 1 147230415 147230415 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:147230415C>T ENST00000271348.2 - 2 1093 c.932G>A c.(931-933)gGt>gAt p.G311D GJA5_ENST00000369237.1_Missense_Mutation_p.G311D|RP11-433J22.2_ENST00000428911.1_RNA NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 311 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CTGGATGAAACCTTCCCCAGG 0.517000 35 101 0 0 0.000491102 0 0 GPLD1 2822 broad.mit.edu 37 6 24447166 24447166 + Missense_Mutation SNP C C T rs140138874 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:24447166C>T ENST00000230036.1 - 18 1830 c.1720G>A c.(1720-1722)Gag>Aag p.E574K NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 574 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 AAGTCTTCCTCGCCTCTCACC 0.488000 31 38 0 0 0.00058488 0 0 BDP1 55814 broad.mit.edu 37 5 70805569 70805569 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:70805569C>T ENST00000358731.4 + 17 2913 c.2650C>T c.(2650-2652)Ccc>Tcc p.P884S BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 884 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGCCATTTCTCCCAGGGAGAA 0.418000 18 19 0 0 0.000566183 0 0 CD86 942 broad.mit.edu 37 3 121774339 121774339 + Translation_Start_Site SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:121774339G>A ENST00000330540.2 + 1 119 c.3G>A c.(1-3)atG>atA p.M1I CD86_ENST00000493101.1_Start_Codon_SNP_p.M1I|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000264468.5_Start_Codon_SNP_p.M1I NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 1 interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CAGCCAAAATGGATCCCCAGT 0.453000 13 27 0 0 0.000219431 0 0 PPARA 5465 broad.mit.edu 37 22 46614165 46614165 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:46614165C>T ENST00000396000.2 + 5 640 c.375C>T c.(373-375)ttC>ttT p.F125F PPARA_ENST00000402126.1_Silent_p.F125F|PPARA_ENST00000407236.1_Silent_p.F125F|PPARA_ENST00000434345.2_Silent_p.F125F|PPARA_ENST00000262735.5_Silent_p.F125F Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 125 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) CACAGGGCTTCTTTCGGCGAA 0.448000 14 12 0 0 0.000219431 0 0 TRIM5 85363 broad.mit.edu 37 11 5686856 5686856 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:5686856G>A ENST00000396847.3 - 7 1160 c.925C>T c.(925-927)Ccc>Tcc p.P309S TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380034.3_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000396855.3_Intron Q9C035 TRIM5_HUMAN tripartite motif containing 5 0 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) AAGCCGCAGGGTGGCTTATGA 0.348000 OREG0003727 type=REGULATORY REGION|Gene=AK074363|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 28 67 0 0 0.00178596 0 0 ITLN1 55600 broad.mit.edu 37 1 160850449 160850449 + Missense_Mutation SNP G G A rs147618489 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:160850449G>A ENST00000326245.3 - 6 729 c.614C>T c.(613-615)cCg>cTg p.P205L ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 205 Fibrinogen C-terminal. 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 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) AGGGATCACCGGGCCGTTGTC 0.438000 62 136 0 0 0.000781405 0 0 MYO15A 51168 broad.mit.edu 37 17 18051410 18051410 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:18051410G>A ENST00000205890.5 + 31 6915 c.6577G>A c.(6577-6579)Ggc>Agc p.G2193S NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2193 MyTH4 1.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GCAGGCCATGGGCCGGGCCCA 0.627000 22 39 0 0 0.000375601 0 0 TPX2 22974 broad.mit.edu 37 20 30385293 30385293 + Silent SNP C C A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:30385293C>A ENST00000340513.4 + 17 2556 c.2028C>A c.(2026-2028)ccC>ccA p.P676P TPX2_ENST00000300403.6_Silent_p.P640P Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 640 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) CCTTTGTTCCCAAGAAAGAGA 0.458000 11 232 0.00136819 0.00758613 0.00136819 1 0 SDK1 221935 broad.mit.edu 37 7 4152923 4152923 + Missense_Mutation SNP T T A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:4152923T>A ENST00000404826.2 + 24 3576 c.3437T>A c.(3436-3438)tTt>tAt p.F1146Y SDK1_ENST00000389531.3_Missense_Mutation_p.F1146Y NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1146 Fibronectin type-III 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCCTTTAGATTTCGAATGAAG 0.537000 49 297 0 0 0.000781405 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157408 26157408 + Nonsense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:26157408G>A ENST00000325250.1 + 2 493 c.306G>A c.(304-306)tgG>tgA p.W102* NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 102 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 CTGAGGGCTGGAAAGAAGATC 0.433000 10 4 0 0 0.000442599 0 0 DMC1 11144 broad.mit.edu 37 22 38934573 38934573 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:38934573G>A ENST00000216024.2 - 10 907 c.631C>T c.(631-633)Cat>Tat p.H211Y DMC1_ENST00000428462.2_Missense_Mutation_p.H156Y NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 211 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) GCTTCTTCATGGAACTTTGCT 0.353000 Homologous recombination 77 211 0 0 0.000781405 0 0 COL5A3 50509 broad.mit.edu 37 19 10116637 10116637 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:10116637G>A ENST00000264828.3 - 3 357 c.272C>T c.(271-273)tCc>tTc p.S91F NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 91 TSP N-terminal. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GATCAGCAAGGAGAAGTTCTC 0.617000 17 23 0 0 0.00074312 0 0 OR4N5 390437 broad.mit.edu 37 14 20612558 20612558 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:20612558C>T ENST00000333629.1 + 1 664 c.664C>T c.(664-666)Ctc>Ttc p.L222F NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGCAGTCATCCTCTGTCGTAT 0.498000 23 47 0 0 0.000229342 0 0 PKD1 5310 broad.mit.edu 37 16 2149654 2149654 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:2149654G>A ENST00000262304.4 - 30 10249 c.10041C>T c.(10039-10041)tcC>tcT p.S3347S PKD1_ENST00000423118.1_Silent_p.S3347S NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 3347 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCTTGCTCCGGGACATCCGGA 0.647000 3 5 0 0 0.000602214 0 0 PHKA2 5256 broad.mit.edu 37 X 18958111 18958111 + Splice_Site SNP A A G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:18958111A>G ENST00000379942.4 - 9 1584 c.e9+1 NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TTTAAATACAACCTCTCTTGG 0.353000 72 30 0 0 0.000781405 0 0 MORN5 254956 broad.mit.edu 37 9 124936831 124936831 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:124936831G>A ENST00000536616.1 + 4 402 c.364G>A c.(364-366)Gat>Aat p.D122N MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.D122N Q5VZ52 MORN5_HUMAN MORN repeat containing 5 122 endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 9 GGGCTATTACGATTGTGGAGA 0.463000 12 56 0 0 0.000978159 0 0 WNK3 65267 broad.mit.edu 37 X 54263502 54263502 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:54263502G>A ENST00000354646.2 - 20 4935 c.4497C>T c.(4495-4497)caC>caT p.H1499H WNK3_ENST00000375169.3_Silent_p.H1452H|WNK3_ENST00000375159.2_Silent_p.H1499H NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1452 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GTTCTTCGTGGTGTGGTAAGC 0.458000 76 28 0 0 0.000781405 0 0 NLRC3 197358 broad.mit.edu 37 16 3614061 3614061 + RNA SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:3614061C>T ENST00000301749.7 - 0 1282 NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000324659.8_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACCTTGATCTCCTCCTCGTTA 0.607000 9 34 0 0 0.000274275 0 0 KDELR3 11015 broad.mit.edu 37 22 38870562 38870562 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:38870562C>T ENST00000216014.4 + 2 298 c.126C>T c.(124-126)ctC>ctT p.L42L KDELR3_ENST00000409006.3_Silent_p.L42L|KDELR3_ENST00000471268.1_3'UTR NM_006855.2 NP_006846.1 O43731 ERD23_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 42 L -> P (in Ref. 4; BAD96650). protein retention in ER lumen|protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane ER retention sequence binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 Melanoma(58;0.0286) TGTTTGCTCTCGTCTTCACCA 0.552000 46 53 0 0 0.000781405 0 0 SFTPB 6439 broad.mit.edu 37 2 85892775 85892775 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:85892775G>A ENST00000393822.3 - 6 671 c.572C>T c.(571-573)cCt>cTt p.P191L SFTPB_ENST00000409383.1_Missense_Mutation_p.P191L|SFTPB_ENST00000342375.3_Missense_Mutation_p.P179L|SFTPB_ENST00000519937.2_Missense_Mutation_p.P179L P07988 PSPB_HUMAN surfactant protein B 179 organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 GGGCAGCACAGGGAGGACGAG 0.677000 23 39 0 0 0.00106085 0 0 CSAD 51380 broad.mit.edu 37 12 53552463 53552463 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:53552463G>A ENST00000267085.4 - 17 1628 c.1395C>T c.(1393-1395)gcC>gcT p.A465A CSAD_ENST00000379846.1_Silent_p.A291A|CSAD_ENST00000444623.1_Silent_p.A438A|CSAD_ENST00000453446.2_Silent_p.A438A|CSAD_ENST00000379843.3_Silent_p.A291A NM_001244706.1|NM_015989.4 NP_001231635.1|NP_057073.4 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 438 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TGAGCACGGGGGCCACCTGTG 0.617000 4 5 0 0 0.00024832 0 0 NOS1AP 9722 broad.mit.edu 37 1 162325117 162325117 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:162325117G>A ENST00000361897.5 + 7 1138 c.736G>A c.(736-738)Gaa>Aaa p.E246K NOS1AP_ENST00000530878.1_Missense_Mutation_p.E241K NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 246 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) TGTAGGGAAGGAAGGAGGCTC 0.557000 24 92 0 0 0.000878237 0 0 ZNF831 128611 broad.mit.edu 37 20 57766753 57766753 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:57766753G>A ENST00000371030.2 + 1 679 c.679G>A c.(679-681)Gag>Aag p.E227K NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 227 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCCCAGACCAGAGGGCAGGGG 0.692000 15 43 0 0 0.000308642 0 0 CEP85L 387119 broad.mit.edu 37 6 118886834 118886834 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:118886834G>A ENST00000368491.3 - 3 1499 c.878C>T c.(877-879)tCc>tTc p.S293F CEP85L_ENST00000392500.3_Missense_Mutation_p.S296F|CEP85L_ENST00000368488.5_Missense_Mutation_p.S296F|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000360290.3_Missense_Mutation_p.S191F|CEP85L_ENST00000419517.2_Missense_Mutation_p.S293F NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 293 centrosome AGTCCTTACGGAAGGCTGAAT 0.463000 16 28 0 0 0.000566183 0 0 TTC37 9652 broad.mit.edu 37 5 94842678 94842678 + Missense_Mutation SNP T T A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:94842678T>A ENST00000358746.2 - 30 3350 c.3052A>T c.(3052-3054)Act>Tct p.T1018S TTC37_ENST00000515176.1_5'UTR NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1018 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 ACATTGTAAGTATCTTGGTCT 0.313000 37 30 0 0 0.00111076 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612455 16612455 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:16612455C>T ENST00000443444.2 + 5 1224 c.1084C>T c.(1084-1086)Cct>Tct p.P362S CCDC144A_ENST00000340621.5_Missense_Mutation_p.P361S|CCDC144A_ENST00000360524.8_Missense_Mutation_p.P362S|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.P362S|CCDC144A_ENST00000399273.1_Missense_Mutation_p.P362S|CCDC144A_ENST00000456009.1_Intron A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 362 CGAGACATTTCCTGAACAAAA 0.378000 46 70 0 0 0.000781405 0 0 ZMYND8 23613 broad.mit.edu 37 20 45927622 45927622 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:45927622G>A ENST00000311275.7 - 4 497 c.244C>T c.(244-246)Ccg>Tcg p.P82S ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P102S|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P102S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P82S|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000468376.2_Intron|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P109S|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P82S|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P102S|ZMYND8_ENST00000372023.3_Intron Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 82 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CCATCCTGCGGTACAACATCA 0.483000 46 103 0 0 0.000781405 0 0 GLB1 2720 broad.mit.edu 37 3 33065758 33065758 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:33065758C>T ENST00000307363.5 - 11 1272 c.1128G>A c.(1126-1128)aaG>aaA p.K376K GLB1_ENST00000399402.3_Silent_p.K346K|GLB1_ENST00000307377.8_Silent_p.K245K|GLB1_ENST00000445488.2_Silent_p.K424K|GLB1_ENST00000497796.1_5'UTR NM_000404.2 NP_000395.2 P16278 BGAL_HUMAN galactosidase, beta 1 376 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) CCAAAGTGACCTTTCCATATG 0.353000 7 12 0 0 0.000157383 0 0 MYOCD 93649 broad.mit.edu 37 17 12656204 12656204 + Nonsense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:12656204G>A ENST00000425538.1 + 10 1799 c.1599G>A c.(1597-1599)tgG>tgA p.W533* MYOCD_ENST00000343344.4_Nonsense_Mutation_p.W533*|MYOCD_ENST00000395988.1_Nonsense_Mutation_p.W437* NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 533 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AACTCACCTGGAAACTCCAGC 0.537000 17 34 0 0 0.00074312 0 0 ARHGAP5 394 broad.mit.edu 37 14 32562338 32562338 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:32562338C>T ENST00000345122.3 + 2 2778 c.2463C>T c.(2461-2463)atC>atT p.I821I ARHGAP5_ENST00000556611.1_Silent_p.I821I|ARHGAP5_ENST00000539826.2_Silent_p.I821I|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Silent_p.I821I NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 821 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TTGATAAAATCATTGGTGAAA 0.353000 15 64 0 0 0.000308642 0 0 ALDH3A1 218 broad.mit.edu 37 17 19646717 19646717 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:19646717C>T ENST00000457500.2 - 2 551 c.222G>A c.(220-222)atG>atA p.M74I ALDH3A1_ENST00000395555.3_Missense_Mutation_p.M74I|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.M74I|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.M74I|ALDH3A1_ENST00000494157.2_Start_Codon_SNP_p.M1I NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 74 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) GCTTCTGGATCATGTACTCGA 0.612000 43 81 0 0 0.000781405 0 0 CASP10 843 broad.mit.edu 37 2 202074282 202074282 + Missense_Mutation SNP C C A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:202074282C>A ENST00000286186.6 + 9 1847 c.1412C>A c.(1411-1413)cCa>cAa p.P471Q CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.P404Q|CASP10_ENST00000346817.5_Missense_Mutation_p.P428Q|CASP10_ENST00000448480.1_Missense_Mutation_p.P428Q|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000272879.5_Missense_Mutation_p.P471Q NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 471 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding p.P471Q(2) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 AAATTGGTCCCAAGGTGAGAG 0.388000 7 110 0.000157383 0.000883323 0.000157383 1 0 PPL 5493 broad.mit.edu 37 16 4938190 4938190 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:4938190C>T ENST00000345988.2 - 20 2516 c.2427G>A c.(2425-2427)agG>agA p.R809R PPL_ENST00000590782.2_Silent_p.R807R NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 809 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CGAGAAGAGACCTTAGTTTTT 0.498000 13 49 0 0 0.000219431 0 0 SLC26A9 115019 broad.mit.edu 37 1 205895697 205895697 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:205895697G>A ENST00000367135.3 - 12 1468 c.1355C>T c.(1354-1356)cCc>cTc p.P452L SLC26A9_ENST00000367134.2_Missense_Mutation_p.P452L|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P452L NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 452 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CAGGTAGTAGGGGTCGGTGAG 0.582000 30 66 0 0 0.00111076 0 0 TNIP2 79155 broad.mit.edu 37 4 2746636 2746636 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:2746636C>T ENST00000510267.1 - 4 800 c.373G>A c.(373-375)Gcc>Acc p.A125T TNIP2_ENST00000315423.7_Missense_Mutation_p.A232T|TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000505186.1_5'UTR NM_001161527.1 NP_001154999.1 Q8NFZ5 TNIP2_HUMAN TNFAIP3 interacting protein 2 232 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCCCTGCTGGCGTTGTAGCGC 0.612000 14 29 0 0 0.000219431 0 0 ACSL5 51703 broad.mit.edu 37 10 114177625 114177625 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:114177625C>T ENST00000393081.1 + 14 1547 c.1240C>T c.(1240-1242)Cgt>Tgt p.R414C ACSL5_ENST00000369410.3_Missense_Mutation_p.R196C|ACSL5_ENST00000433418.1_Missense_Mutation_p.R414C|ACSL5_ENST00000356116.1_Missense_Mutation_p.R470C|ACSL5_ENST00000354655.4_Missense_Mutation_p.R414C|ACSL5_ENST00000354273.4_Missense_Mutation_p.R414C|RP11-324O2.6_ENST00000424422.1_RNA NM_203380.1 NP_976314.1 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 414 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity p.R470C(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CGGAAGGGTTCGTGTAATTGT 0.473000 23 78 0 0 0.000720815 0 0 FAM129A 116496 broad.mit.edu 37 1 184764653 184764653 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:184764653C>T ENST00000367511.3 - 14 2438 c.2245G>A c.(2245-2247)Gaa>Aaa p.E749K FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 749 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GGCTCTTTTTCCTCTTCTTCT 0.562000 24 129 0 0 0.000586117 0 0 PSG5 5673 broad.mit.edu 37 19 43688966 43688966 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:43688966C>T ENST00000404580.1 - 2 486 c.398G>A c.(397-399)gGa>gAa p.G133E PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000366175.3_Missense_Mutation_p.G133E|PSG5_ENST00000599812.1_Missense_Mutation_p.G133E|PSG5_ENST00000407356.1_Missense_Mutation_p.G133E|PSG5_ENST00000407568.1_Missense_Mutation_p.G133E|PSG5_ENST00000342951.6_Missense_Mutation_p.G133E Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 133 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TCCAGTTACTCCTCTAGTCCT 0.473000 44 148 0 0 0.000781405 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217156 150217156 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:150217156G>A ENST00000313543.4 + 2 251 c.94G>A c.(94-96)Gaa>Aaa p.E32K NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 32 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTTGGAGAGGAAATCTTTGA 0.507000 36 39 0 0 0.00058488 0 0 IVD 3712 broad.mit.edu 37 15 40705279 40705279 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:40705279G>A ENST00000249760.2 + 7 1120 c.777G>A c.(775-777)aaG>aaA p.K259K IVD_ENST00000487418.2_Silent_p.K262K|IVD_ENST00000479013.2_Silent_p.K232K NM_002225.3 NP_002216.2 P26440 IVD_HUMAN isovaleryl-CoA dehydrogenase 259 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) AAGACTGCAAGATTCCTGGTA 0.527000 11 38 0 0 0.000978159 0 0 BRINP1 1620 broad.mit.edu 37 9 121976304 121976304 + Missense_Mutation SNP T T A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:121976304T>A ENST00000265922.3 - 6 1276 c.815A>T c.(814-816)gAg>gTg p.E272V DBC1_ENST00000373964.2_Missense_Mutation_p.E272V NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 272 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CTGCGGAAACTCCTCGGCACA 0.557000 10 78 0 0 0.000673444 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049328 42049328 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:42049328G>A ENST00000372584.1 - 3 2155 c.1141C>T c.(1141-1143)Ctg>Ttg p.L381L HIVEP3_ENST00000247584.5_Silent_p.L381L|HIVEP3_ENST00000429157.2_Silent_p.L381L|HIVEP3_ENST00000372583.1_Silent_p.L381L NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 381 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CCTGGGCTCAGAAACGCCTGC 0.567000 11 41 0 0 0.000673444 0 0 PNMA2 10687 broad.mit.edu 37 8 26365944 26365944 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:26365944G>A ENST00000522362.2 - 3 1222 c.328C>T c.(328-330)Cta>Tta p.L110L NM_007257.5 NP_009188.1 Q9UL42 PNMA2_HUMAN paraneoplastic Ma antigen 2 110 apoptosis nucleolus protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3) 11 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) tctttttctagaaacaggttc 0.542000 9 44 0 0 0.000274275 0 0 MUC5B 727897 broad.mit.edu 37 11 1269208 1269208 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:1269208G>A ENST00000447027.1 + 31 11165 c.11107G>A c.(11107-11109)Gcc>Acc p.A3703T RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.A3700T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3700 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GACCACAACAGCCACTACGAC 0.652000 22 106 0 0 0.000878237 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77331198 77331198 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:77331198G>A ENST00000282849.5 - 18 3207 c.2789C>T c.(2788-2790)tCc>tTc p.S930F NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 930 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 AGCCGGGCAGGAGAAAGCGTT 0.403000 25 40 0 0 0.000878237 0 0 DMBT1 1755 broad.mit.edu 37 10 124399588 124399588 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:124399588C>T ENST00000368909.3 + 52 6694 c.6588C>T c.(6586-6588)ttC>ttT p.F2196F DMBT1_ENST00000368955.3_Silent_p.F2186F|DMBT1_ENST00000368956.2_Silent_p.F1568F|DMBT1_ENST00000344338.3_Silent_p.F2186F|DMBT1_ENST00000338354.3_Silent_p.F2196F|DMBT1_ENST00000359586.6_Silent_p.F916F|DMBT1_ENST00000330163.4_Silent_p.F1568F NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2196 ZP. F -> L (in Ref. 2; CAB56155). epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATTCCAACTTCCTCACAGCAG 0.522000 10 35 0 0 0.000978159 0 0 DEFB116 245930 broad.mit.edu 37 20 29891192 29891192 + Missense_Mutation SNP T T A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:29891192T>A ENST00000400549.1 - 2 131 c.132A>T c.(130-132)caA>caT p.Q44H NM_001037731.1 NP_001032820.1 Q30KQ4 DB116_HUMAN defensin, beta 116 44 defense response to bacterium extracellular region kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TGCACATGCCTTGGTAAAGCT 0.458000 42 270 0 0 0.000437636 0 0 HHLA2 11148 broad.mit.edu 37 3 108076967 108076967 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:108076967C>T ENST00000357759.5 + 6 1376 c.962C>T c.(961-963)tCg>tTg p.S321L HHLA2_ENST00000467562.1_Missense_Mutation_p.S257L|HHLA2_ENST00000489514.2_Missense_Mutation_p.S321L|HHLA2_ENST00000467761.1_Missense_Mutation_p.S321L|HHLA2_ENST00000491820.1_Missense_Mutation_p.S321L NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 321 Ig-like V-type 2. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 AATATTTCTTCGGATGAATAT 0.368000 14 33 0 0 0.000151284 0 0 EGFR 1956 broad.mit.edu 37 7 55214303 55214303 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:55214303C>T ENST00000275493.2 + 4 606 c.429C>T c.(427-429)atC>atT p.I143I EGFR_ENST00000442591.1_Silent_p.I143I|EGFR_ENST00000454757.2_Silent_p.I90I|EGFR_ENST00000342916.3_Silent_p.I143I|EGFR_ENST00000344576.2_Silent_p.I143I|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000420316.2_Silent_p.I143I NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 143 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCGCAGAAATCCTGCATGGCG 0.517000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 5 41 0 0 0.00116845 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436352 72436352 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:72436352G>A ENST00000392627.1 + 2 1698 c.572G>A c.(571-573)cGg>cAg p.R191Q GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.R158Q|GPRC5C_ENST00000481232.1_Intron NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 146 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 TTCCTGGCCCGGAAGAACCAC 0.587000 38 59 0 0 0.000437636 0 0 USP6NL 9712 broad.mit.edu 37 10 11505704 11505704 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:11505704G>A ENST00000379237.1 - 15 1617 c.1223C>T c.(1222-1224)cCc>cTc p.P408L USP6NL_ENST00000277575.5_Missense_Mutation_p.P425L NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 408 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 CCTCCTGTGGGGCGCCCCGCT 0.687000 6 22 0 0 0.00116845 0 0 CPNE5 57699 broad.mit.edu 37 6 36762372 36762372 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:36762372G>A ENST00000244751.2 - 7 1083 c.459C>T c.(457-459)tcC>tcT p.S153S NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 153 C2 2. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CGTACCCGTTGGACACAGCTG 0.592000 12 8 0 0 0.00136819 0 0 LDLR 3949 broad.mit.edu 37 19 11210922 11210922 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:11210922G>A ENST00000558518.1 + 2 278 c.91G>A c.(91-93)Gag>Aag p.E31K LDLR_ENST00000558013.1_Missense_Mutation_p.E31K|LDLR_ENST00000557933.1_Missense_Mutation_p.E31K|LDLR_ENST00000545707.1_Missense_Mutation_p.E31K|LDLR_ENST00000535915.1_Missense_Mutation_p.E31K|LDLR_ENST00000455727.2_Missense_Mutation_p.E31K NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 31 LDL-receptor class A 1. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.E31K(1)|p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CGAAAGAAACGAGTTCCAGTG 0.532000 45 164 0 0 0.000781405 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64536712 64536712 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:64536712G>A ENST00000498707.1 - 31 5067 c.4725C>T c.(4723-4725)tcC>tcT p.S1575S ADAMTS9_ENST00000295903.4_Silent_p.S1547S NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1575 TSP type-1 13. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGCGGTACCTGGAGCCTTCGC 0.488000 66 157 0 0 0.000781405 0 0 IQCA1 79781 broad.mit.edu 37 2 237233337 237233337 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:237233337C>T ENST00000409907.3 - 19 2737 c.2463G>A c.(2461-2463)agG>agA p.R821R IQCA1_ENST00000431676.2_Silent_p.R780R|IQCA1_ENST00000309507.5_Silent_p.R818R Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 821 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 tcttttatttccttttccctt 0.428000 4 15 0 0 0.00024832 0 0 ACSM2B 348158 broad.mit.edu 37 16 20570742 20570742 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:20570742G>A ENST00000329697.6 - 3 373 c.205C>T c.(205-207)Ctg>Ttg p.L69L ACSM2B_ENST00000567001.1_Silent_p.L69L|ACSM2B_ENST00000565232.1_Silent_p.L69L|ACSM2B_ENST00000414188.2_Silent_p.L69L|ACSM2B_ENST00000565322.1_5'UTR NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 69 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 ACCCACCACAGGGCTGGGCTT 0.527000 7 14 0 0 0.000978159 0 0 SUSD4 55061 broad.mit.edu 37 1 223396907 223396907 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:223396907G>A ENST00000343846.3 - 7 1761 c.1128C>T c.(1126-1128)ctC>ctT p.L376L SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Silent_p.L376L|SUSD4_ENST00000454695.2_Silent_p.L216L Q5VX71 SUSD4_HUMAN sushi domain containing 4 376 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) CATAGGACGGGAGCATGACGG 0.617000 8 9 0 0 0.000157383 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229706 8229706 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:8229706C>T ENST00000539824.1 + 12 2431 c.2057C>T c.(2056-2058)cCt>cTt p.P686L SH3TC1_ENST00000245105.3_Missense_Mutation_p.P762L Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 762 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CACAGCCTCCCTGCCCAAACT 0.692000 5 20 0 0 8.12818e-05 0 0 SYNE1 23345 broad.mit.edu 37 6 152847286 152847286 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:152847286C>T ENST00000367255.5 - 5 755 c.154G>A c.(154-156)Gat>Aat p.D52N SYNE1_ENST00000448038.1_Missense_Mutation_p.D52N|SYNE1_ENST00000367248.3_Missense_Mutation_p.D52N|SYNE1_ENST00000466159.2_Missense_Mutation_p.D52N|SYNE1_ENST00000367253.4_Missense_Mutation_p.D52N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D52N|SYNE1_ENST00000413186.2_Missense_Mutation_p.D52N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D52N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D52N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 52 Actin-binding.|CH 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCAAAAAGATCGTCCACCACC 0.423000 HNSCC(10;0.0054) 20 41 0 0 0.00047179 0 0 CLCA3P 9629 broad.mit.edu 37 1 87104551 87104551 + RNA SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:87104551C>T ENST00000456587.1 - 0 294 CLCA3P_ENST00000466454.1_RNA ATGTTCCACTCGTATTACTGT 0.378000 11 7 0 0 0.00136819 0 0 NLRP12 91662 broad.mit.edu 37 19 54314204 54314204 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:54314204C>T ENST00000324134.6 - 3 877 c.709G>A c.(709-711)Ggg>Agg p.G237R NLRP12_ENST00000535162.1_Missense_Mutation_p.G237R|NLRP12_ENST00000391773.1_Missense_Mutation_p.G237R|NLRP12_ENST00000391772.1_Missense_Mutation_p.G237R|NLRP12_ENST00000391775.3_Missense_Mutation_p.G237R|NLRP12_ENST00000351894.4_Missense_Mutation_p.G237R|NLRP12_ENST00000345770.5_Missense_Mutation_p.G237R|NLRP12_ENST00000354278.3_Missense_Mutation_p.G237R NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 237 NACHT. 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 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) AAGAGCTTCCCGTCCGCCCAG 0.582000 11 28 0 0 0.000978159 0 0 CSAD 51380 broad.mit.edu 37 12 53552462 53552462 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:53552462G>A ENST00000267085.4 - 17 1629 c.1396C>T c.(1396-1398)Ccc>Tcc p.P466S CSAD_ENST00000379846.1_Missense_Mutation_p.P292S|CSAD_ENST00000444623.1_Missense_Mutation_p.P439S|CSAD_ENST00000453446.2_Missense_Mutation_p.P439S|CSAD_ENST00000379843.3_Missense_Mutation_p.P292S NM_001244706.1|NM_015989.4 NP_001231635.1|NP_057073.4 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 439 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TTGAGCACGGGGGCCACCTGT 0.617000 4 5 0 0 0.00024832 0 0 PAM 5066 broad.mit.edu 37 5 102361011 102361011 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:102361011C>T ENST00000438793.3 + 23 3132 c.2662C>T c.(2662-2664)Cgg>Tgg p.R888W PAM_ENST00000348126.2_Missense_Mutation_p.R781W|PAM_ENST00000274392.9_Missense_Mutation_p.R790W|PAM_ENST00000379787.4_Missense_Mutation_p.R268W|PAM_ENST00000346918.2_Intron|PAM_ENST00000304400.7_Missense_Mutation_p.R888W|PAM_ENST00000455264.2_Intron NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 888 peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) CATATTTATTCGGTGGAAAAA 0.473000 56 24 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179422801 179422801 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:179422801C>T ENST00000589042.1 - 328 87504 c.87280G>A c.(87280-87282)Gaa>Aaa p.E29094K TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E27453K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20221K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E20154K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20029K|TTN_ENST00000342992.6_Missense_Mutation_p.E26526K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27453 Fibronectin type-III 112. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAGTAATTTCGGTATTAAAT 0.428000 19 95 0 0 0.00152264 0 0 CC2D2A 57545 broad.mit.edu 37 4 15556783 15556783 + Missense_Mutation SNP A A G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:15556783A>G ENST00000424120.1 + 20 2829 c.2575A>G c.(2575-2577)Aag>Gag p.K859E CC2D2A_ENST00000503292.1_Missense_Mutation_p.K859E|CC2D2A_ENST00000389652.5_Missense_Mutation_p.K810E|CC2D2A_ENST00000413206.1_Missense_Mutation_p.K859E Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 859 cell projection organization cilium|microtubule basal body p.K810Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 AGCAGAGTCCAAGCTCGACCC 0.468000 8 33 0 0 0.000274275 0 0 OR2T10 127069 broad.mit.edu 37 1 248756644 248756644 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:248756644G>A ENST00000330500.2 - 1 456 c.426C>T c.(424-426)ctC>ctT p.L142L NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 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) ATGCCAGGAGGAGACATACCC 0.562000 31 62 0 0 0.000339439 0 0 CDRT1 374286 broad.mit.edu 37 17 15517324 15517324 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:15517324G>A ENST00000455584.2 - 9 1667 c.1624C>T c.(1624-1626)Cgg>Tgg p.R542W CDRT1_ENST00000395906.3_Missense_Mutation_p.R232W GATATACACCGGAGTGAATTC 0.488000 25 80 0 0 0.000720815 0 0 STON1 11037 broad.mit.edu 37 2 48809178 48809178 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:48809178C>T ENST00000309835.3 + 1 1416 c.1406C>T c.(1405-1407)tCc>tTc p.S469F STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S469F|STON1_ENST00000404752.1_Missense_Mutation_p.S469F|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S469F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S469F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S469F|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S469F|STON1_ENST00000406226.1_Missense_Mutation_p.S469F stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CGAGATGAATCCTATTATGAG 0.368000 46 55 0 0 0.000781405 0 0 EYA1 2138 broad.mit.edu 37 8 72127949 72127949 + Missense_Mutation SNP C C G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:72127949C>G ENST00000340726.3 - 15 2014 c.1375G>C c.(1375-1377)Gct>Cct p.A459P EYA1_ENST00000388743.2_Missense_Mutation_p.A458P|EYA1_ENST00000388742.4_Missense_Mutation_p.A459P|EYA1_ENST00000419131.1_Missense_Mutation_p.A424P|EYA1_ENST00000388740.3_Missense_Mutation_p.A426P|EYA1_ENST00000388741.2_Missense_Mutation_p.A425P|EYA1_ENST00000303824.7_Missense_Mutation_p.A453P NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 459 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TCCCTCTTAGCTGGACCAAGC 0.473000 7 26 0 0 8.12818e-05 0 0 CCDC141 285025 broad.mit.edu 37 2 179730571 179730571 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:179730571G>A ENST00000420890.2 - 17 2764 c.2647C>T c.(2647-2649)Cgt>Tgt p.R883C CCDC141_ENST00000295723.5_Missense_Mutation_p.R308C NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 308 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) GCTTTGGCACGCCACTTCATG 0.527000 56 206 0 0 0.000781405 0 0 MYO9A 4649 broad.mit.edu 37 15 72227785 72227785 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:72227785G>A ENST00000356056.5 - 17 2891 c.2419C>T c.(2419-2421)Cgc>Tgc p.R807C MYO9A_ENST00000424560.1_Missense_Mutation_p.R807C|MYO9A_ENST00000444904.1_Missense_Mutation_p.R788C|MYO9A_ENST00000566885.1_Missense_Mutation_p.R427C|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.R807C NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 807 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTGCTCTGGCGAATCCCAGTT 0.388000 64 29 0 0 0.000781405 0 0 FAM188B 84182 broad.mit.edu 37 7 30880418 30880418 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:30880418C>T ENST00000265299.6 + 9 1476 c.1399C>T c.(1399-1401)Cta>Tta p.L467L INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 467 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGGCTGTGTCCTACAGAAACT 0.507000 18 76 0 0 0.000229342 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24931540 24931540 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:24931540G>A ENST00000289968.6 - 20 2626 c.2557C>T c.(2557-2559)Cct>Tct p.P853S ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P775S|ARHGAP17_ENST00000441763.2_3'UTR NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 853 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) TGCATTTCAGGAAAGATGCTG 0.527000 24 85 0 0 0.00047179 0 0 ERCC3 2071 broad.mit.edu 37 2 128029016 128029016 + Missense_Mutation SNP G G A rs139049289 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:128029016G>A ENST00000493187.2 - 12 2112 c.1649C>T c.(1648-1650)tCg>tTg p.S550L ERCC3_ENST00000285398.2_Missense_Mutation_p.S614L P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 614 Helicase C-terminal. cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) CAGATCAAACGAAGTGTCACC 0.423000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 38 53 0 0 0.000374591 0 0 MYH7B 57644 broad.mit.edu 37 20 33586421 33586421 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:33586421G>A ENST00000262873.7 + 32 4200 c.4108G>A c.(4108-4110)Gag>Aag p.E1370K NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1328 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CCAGCTAGAGGAGGAAAGCAA 0.632000 10 41 0 0 0.000673444 0 0 CSHL1 1444 broad.mit.edu 37 17 61987459 61987459 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:61987459C>T ENST00000450719.3 - 3 489 c.252G>A c.(250-252)gaG>gaA p.E84E CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Silent_p.E95E|CSHL1_ENST00000346606.6_Intron Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 AGCAGTGTTTCTCTCCCCCAG 0.562000 17 58 0 0 0.00074312 0 0 SVOPL 136306 broad.mit.edu 37 7 138333801 138333801 + Missense_Mutation SNP G G A rs143755972 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:138333801G>A ENST00000421622.1 - 4 464 c.256C>T c.(256-258)Cgc>Tgc p.R86C SVOPL_ENST00000436657.1_Missense_Mutation_p.R54C|SVOPL_ENST00000419765.3_Missense_Mutation_p.R206C|SVOPL_ENST00000288513.5_Missense_Mutation_p.R54C Q8N434 SVOPL_HUMAN SVOP-like 206 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 GAGGCGACGCGAATGAGCCAG 0.612000 17 39 0 0 0.000566183 0 0 SLC22A1 6580 broad.mit.edu 37 6 160557602 160557602 + Silent SNP C C G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:160557602C>G ENST00000366963.4 + 6 1128 c.981C>G c.(979-981)acC>acG p.T327T SLC22A1_ENST00000457470.2_Silent_p.T327T|SLC22A1_ENST00000324965.4_Silent_p.T327T NM_003057.2|NM_153187.1 NP_003048.1|NP_694857.1 O15245 S22A1_HUMAN solute carrier family 22 (organic cation transporter), member 1 327 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) AGGATGTCACCGAAAAGCTGA 0.607000 21 57 0 0 0.000295444 0 0 ADGRG6 57211 broad.mit.edu 37 6 142758584 142758584 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:142758584C>T ENST00000230173.6 + 23 3809 c.3333C>T c.(3331-3333)ttC>ttT p.F1111F GPR126_ENST00000296932.8_Silent_p.F1083F|GPR126_ENST00000367608.2_Silent_p.F1083F|GPR126_ENST00000367609.3_Silent_p.F1111F NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 1111 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TATTTATATTCATCTTCCACT 0.338000 15 47 0 0 0.000566183 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187693433 187693433 + Missense_Mutation SNP T T G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:187693433T>G ENST00000295131.2 - 9 1219 c.1180A>C c.(1180-1182)Act>Cct p.T394P NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 394 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TTTTTCCAAGTTAAAGGGTTA 0.348000 16 19 0 0 0.000422831 0 0 MROH2B 133558 broad.mit.edu 37 5 41019027 41019027 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:41019027C>T ENST00000399564.4 - 25 2985 c.2535G>A c.(2533-2535)ctG>ctA p.L845L MROH2B_ENST00000506092.2_Silent_p.L400L NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CTTCACTTTTCAGATTTTCCA 0.473000 16 27 0 0 0.000422831 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640266 99640266 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:99640266C>T ENST00000547776.2 - 13 2132 c.2133G>A c.(2131-2133)gaG>gaA p.E711E ANKS1B_ENST00000547010.1_Silent_p.E291E|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Silent_p.E711E NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 711 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TACAGGCTCTCTCCACAAATC 0.468000 12 37 0 0 0.00136819 0 0 MOGAT2 80168 broad.mit.edu 37 11 75439858 75439858 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:75439858C>T ENST00000526712.1 + 4 1201 c.428C>T c.(427-429)tCc>tTc p.S143F MOGAT2_ENST00000198801.5_Missense_Mutation_p.S225F Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 225 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) CCAATCTTCTCCTTCGGGGAG 0.537000 20 58 0 0 0.000295444 0 0 DCC 1630 broad.mit.edu 37 18 50985644 50985644 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr18:50985644G>A ENST00000442544.2 + 24 4051 c.3435G>A c.(3433-3435)caG>caA p.Q1145Q DCC_ENST00000581580.1_Silent_p.Q780Q NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1145 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGGGCAGCCAGAAGGACCTCC 0.488000 25 15 0 0 0.00106085 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44805846 44805846 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:44805846C>T ENST00000309315.4 + 17 2449 c.2326C>T c.(2326-2328)Ccg>Tcg p.P776S ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P750S|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P776S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P744S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P718S NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 776 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TGAGTTCACCCCGGGACCACC 0.622000 22 34 0 0 0.00152264 0 0 FGD4 121512 broad.mit.edu 37 12 32755164 32755164 + Nonsense_Mutation SNP T T A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:32755164T>A ENST00000427716.2 + 7 1330 c.906T>A c.(904-906)taT>taA p.Y302* FGD4_ENST00000531134.1_Nonsense_Mutation_p.Y387*|FGD4_ENST00000546442.1_Nonsense_Mutation_p.Y209*|FGD4_ENST00000534526.2_Nonsense_Mutation_p.Y439*|FGD4_ENST00000266482.3_Nonsense_Mutation_p.Y54*|FGD4_ENST00000381025.3_Nonsense_Mutation_p.Y54*|FGD4_ENST00000525053.1_Nonsense_Mutation_p.Y414* NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 302 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) ATGGAGAATATGTGAAAGGAT 0.348000 29 212 0 0 0.000339439 0 0 TRIM4 89122 broad.mit.edu 37 7 99490188 99490188 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:99490188G>A ENST00000355947.2 - 7 1230 c.1101C>T c.(1099-1101)ccC>ccT p.P367P TRIM4_ENST00000349062.2_Silent_p.P341P NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 367 B30.2/SPRY. P -> S (in dbSNP:rs35432946). protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) CCAGAACACAGGGTAAGTGCT 0.478000 20 58 0 0 0.00121646 0 0 IRAK2 3656 broad.mit.edu 37 3 10280549 10280549 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:10280549G>A ENST00000256458.4 + 12 1681 c.1591G>A c.(1591-1593)Gac>Aac p.D531N NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 531 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|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 cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity p.D531N(2) breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 GGAAACAGACGACGTTGACAA 0.597000 18 36 0 0 0.000229342 0 0 KALRN 8997 broad.mit.edu 37 3 124415066 124415066 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:124415066G>A ENST00000360013.3 + 54 7790 c.7663G>A c.(7663-7665)Ggg>Agg p.G2555R KALRN_ENST00000291478.4_Missense_Mutation_p.G858R|KALRN_ENST00000428018.2_Missense_Mutation_p.G826R NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2554 Ig-like C2-type. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AAATGACCACGGGACCACATC 0.413000 8 36 0 0 0.000157383 0 0 GSTCD 79807 broad.mit.edu 37 4 106766630 106766630 + Nonsense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:106766630C>T ENST00000515279.1 + 12 2018 c.1798C>T c.(1798-1800)Cga>Tga p.R600* GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394728.3_Nonsense_Mutation_p.R600*|GSTCD_ENST00000360505.5_Nonsense_Mutation_p.R600*|GSTCD_ENST00000394730.3_Nonsense_Mutation_p.R513* Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing 600 cytoplasm rRNA methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) GGATCTGGATCGAGCAAGAGC 0.458000 12 35 0 0 0.00136819 0 0 GRM3 2913 broad.mit.edu 37 7 86394591 86394591 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:86394591C>T ENST00000361669.2 + 2 1229 c.130C>T c.(130-132)Ctg>Ttg p.L44L GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Silent_p.L42L|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Silent_p.L44L NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 44 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TTTAGGGGGCCTGTTTCCTAT 0.413000 43 95 0 0 0.00148497 0 0 UPB1 51733 broad.mit.edu 37 22 24916425 24916425 + Nonsense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr22:24916425C>T ENST00000413389.2 + 7 2251 c.658C>T c.(658-660)Cga>Tga p.R220* UPB1_ENST00000498140.1_3'UTR|UPB1_ENST00000326010.5_Nonsense_Mutation_p.R288* Q9UBR1 BUP1_HUMAN ureidopropionase, beta 288 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) CGCCATCAATCGAGTGGGCAC 0.602000 4 11 0 0 0.00024832 0 0 FAM154A 158297 broad.mit.edu 37 9 18928465 18928465 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:18928465G>A ENST00000380534.4 - 4 1289 c.1010C>T c.(1009-1011)tCt>tTt p.S337F FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.S145F NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A 337 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) GGTGGTGGAAGAGCCTTCAAA 0.592000 34 28 0 0 0.00111076 0 0 BCL2L12 83596 broad.mit.edu 37 19 50169131 50169131 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:50169131C>T ENST00000246785.3 + 1 309 c.51C>T c.(49-51)ttC>ttT p.F17F BCL2L12_ENST00000441864.2_Silent_p.F17F|IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.F17F NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 17 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) TTTTGGGTTTCCGGCCAGAGG 0.572000 17 48 0 0 0.000958276 0 0 MAMDC4 158056 broad.mit.edu 37 9 139754341 139754341 + Missense_Mutation SNP A A C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:139754341A>C ENST00000445819.1 + 28 3484 c.3434A>C c.(3433-3435)aAc>aCc p.N1145T MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.N1066T Q6UXC1 AEGP_HUMAN MAM domain containing 4 1145 protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCCACAGGGAACACAGCCGCA 0.652000 6 27 0 0 0.000157383 0 0 OR5H15 403274 broad.mit.edu 37 3 97888154 97888154 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:97888154G>A ENST00000356526.2 + 1 611 c.611G>A c.(610-612)gGt>gAt p.G204D NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 ATTTTCTCAGGTTCAATTCAG 0.323000 7 16 0 0 0.000274275 0 0 CD1B 910 broad.mit.edu 37 1 158299806 158299806 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:158299806G>A ENST00000368168.3 - 3 550 c.443C>T c.(442-444)tCa>tTa p.S148L NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 148 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) AGGCACACATGAAGCATTCTT 0.478000 64 141 0 0 0.000781405 0 0 C16orf11 146325 broad.mit.edu 37 16 613648 613648 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:613648C>T ENST00000409413.3 + 2 633 c.354C>T c.(352-354)gtC>gtT p.V118V NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 118 Pro-rich. central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 ACCTCGTGGTCGCCGACATCC 0.741000 3 2 0 0 6.4e-05 0 0 SCN10A 6336 broad.mit.edu 37 3 38753871 38753871 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:38753871G>A ENST00000449082.2 - 22 3869 c.3870C>T c.(3868-3870)atC>atT p.I1290I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1290 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGAGCCAGAAGATGAGGCAGA 0.527000 13 39 0 0 0.000151284 0 0 KCNC4 3749 broad.mit.edu 37 1 110765757 110765757 + Missense_Mutation SNP A A G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:110765757A>G ENST00000369787.3 + 2 877 c.850A>G c.(850-852)Atc>Gtc p.I284V KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.I284V|KCNC4_ENST00000438661.2_Missense_Mutation_p.I284V NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 284 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) CCTGACCTACATCGAGGGCGT 0.567000 35 36 0 0 0.000589545 0 0 CNTD1 124817 broad.mit.edu 37 17 40958834 40958834 + Missense_Mutation SNP A A C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:40958834A>C ENST00000588408.1 + 5 999 c.723A>C c.(721-723)caA>caC p.Q241H CNTD1_ENST00000588527.1_Missense_Mutation_p.Q158H|CNTD1_ENST00000315066.5_3'UTR NM_173478.2 NP_775749.2 Q8N815 CNTD1_HUMAN cyclin N-terminal domain containing 1 241 central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0749) GTCAGCTGCAAGGGTAAGACA 0.517000 10 11 0 0 0.000442599 0 0 CDK18 5129 broad.mit.edu 37 1 205493436 205493436 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:205493436G>A ENST00000360066.2 + 4 651 c.350G>A c.(349-351)aGc>aAc p.S117N CDK18_ENST00000429964.2_Missense_Mutation_p.S117N|CDK18_ENST00000506784.1_Missense_Mutation_p.S147N|CDK18_ENST00000509056.1_Intron NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 115 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 CAGATGGAGAGCCCAGATCTG 0.617000 OREG0014156 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 102 0 0 0.000586117 0 0 TOP3A 7156 broad.mit.edu 37 17 18183948 18183948 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:18183948G>A ENST00000321105.5 - 17 2260 c.2046C>T c.(2044-2046)ttC>ttT p.F682F TOP3A_ENST00000542570.1_Silent_p.F587F|TOP3A_ENST00000540524.1_Silent_p.F212F NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 682 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 GACACTCTGGGAAACCCATGC 0.577000 15 33 0 0 0.00074312 0 0 GML 2765 broad.mit.edu 37 8 143927990 143927990 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:143927990G>A ENST00000220940.1 + 4 451 c.361G>A c.(361-363)Gac>Aac p.D121N NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 121 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCTTGAAAGGGACATGTTACC 0.438000 27 39 0 0 0.000339439 0 0 OR2T33 391195 broad.mit.edu 37 1 248436220 248436220 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:248436220C>T ENST00000318021.2 - 1 918 c.897G>A c.(895-897)ctG>ctA p.L299L NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|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;0.0245) GCCACCGTTTCAGGGCTCCCT 0.448000 66 152 0 0 0.000781405 0 0 UCP3 7352 broad.mit.edu 37 11 73715038 73715038 + Missense_Mutation SNP G G C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:73715038G>C ENST00000314032.4 - 6 1210 c.658C>G c.(658-660)Cac>Gac p.H220D UCP3_ENST00000348534.4_Missense_Mutation_p.H118D|UCP3_ENST00000426995.2_Missense_Mutation_p.H220D NM_003356.3 NP_003347.1 P55916 UCP3_HUMAN uncoupling protein 3 (mitochondrial, proton carrier) 220 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) GAGACAAAGTGGCAGGGGAAG 0.532000 6 20 0 0 0.00116845 0 0 MORN5 254956 broad.mit.edu 37 9 124929181 124929181 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:124929181G>A ENST00000536616.1 + 2 220 c.182G>A c.(181-183)gGa>gAa p.G61E MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.G61E Q5VZ52 MORN5_HUMAN MORN repeat containing 5 61 endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 9 TGGGAAAACGGATTGGCCATA 0.547000 4 21 0 0 0.000602214 0 0 ZNF394 84124 broad.mit.edu 37 7 99091810 99091810 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:99091810G>A ENST00000337673.6 - 3 1231 c.1028C>T c.(1027-1029)tCc>tTc p.S343F ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 343 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AAAAAGGCTGGAATGATGGAA 0.473000 64 73 0 0 0.000781405 0 0 MYH1 4619 broad.mit.edu 37 17 10408497 10408497 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:10408497C>T ENST00000226207.5 - 21 2512 c.2418G>A c.(2416-2418)caG>caA p.Q806Q CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 806 IQ. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CCACCATTTTCTGGTACTCCA 0.428000 23 45 0 0 0.000586117 0 0 MORN1 79906 broad.mit.edu 37 1 2268180 2268180 + Silent SNP G G A rs150260968 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:2268180G>A ENST00000378531.3 - 11 1319 c.1146C>T c.(1144-1146)ttC>ttT p.F382F MORN1_ENST00000606372.1_5'UTR NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 382 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) CCAGGAACAGGAAGGGGTGGT 0.682000 13 10 0 0 0.00136819 0 0 DLK1 8788 broad.mit.edu 37 14 101200851 101200851 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:101200851G>A ENST00000341267.4 + 5 1012 c.770G>A c.(769-771)cGt>cAt p.R257H DLK1_ENST00000331224.6_Intron NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 257 multicellular organismal development extracellular space|integral to membrane|soluble fraction p.R257H(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) CAGGTCACCCGTCTGCCCAGC 0.652000 12 45 0 0 0.000978159 0 0 DHX30 22907 broad.mit.edu 37 3 47882444 47882444 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:47882444C>T ENST00000446256.2 + 8 899 c.327C>T c.(325-327)tcC>tcT p.S109S DHX30_ENST00000457607.1_Silent_p.S176S|DHX30_ENST00000445061.1_Silent_p.S148S|DHX30_ENST00000348968.4_Silent_p.S120S NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 148 DRBM. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GCTTTGGCTCCCCTGCCGACA 0.602000 7 17 0 0 0.000157383 0 0 CAPN5 726 broad.mit.edu 37 11 76804825 76804825 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:76804825C>T ENST00000278559.3 + 3 452 c.263C>T c.(262-264)tCg>tTg p.S88L CAPN5_ENST00000529629.1_Missense_Mutation_p.S88L|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.S128L NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 88 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 GCAGCCTGCTCGTCACTTGCC 0.662000 12 9 0 0 0.00136819 0 0 ABCA12 26154 broad.mit.edu 37 2 215910714 215910714 + Missense_Mutation SNP T T A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:215910714T>A ENST00000272895.7 - 7 938 c.719A>T c.(718-720)aAg>aTg p.K240M NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 240 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.K240T(1) NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AAACACTATCTTCTGATTGTT 0.363000 13 43 0 0 0.000219431 0 0 TACC2 10579 broad.mit.edu 37 10 123845037 123845037 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:123845037G>A ENST00000369005.1 + 4 3362 c.3022G>A c.(3022-3024)Gaa>Aaa p.E1008K TACC2_ENST00000515603.1_Missense_Mutation_p.E1008K|TACC2_ENST00000453444.2_Missense_Mutation_p.E1008K|TACC2_ENST00000515273.1_Missense_Mutation_p.E1008K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.E1008K|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1008 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CAGCCAGCATGAAGAAGCATG 0.532000 9 21 0 0 0.000274275 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555292 44555292 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr18:44555292C>T ENST00000330682.2 - 1 1157 c.922G>A c.(922-924)Gaa>Aaa p.E308K KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 308 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 AAAGCAGCTTCCTCCTGGAGC 0.637000 31 872 0 0 0.001512 0 0 ABCA2 20 broad.mit.edu 37 9 139903069 139903069 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:139903069G>A ENST00000265662.5 - 48 7221 c.7074C>T c.(7072-7074)ttC>ttT p.F2358F ABCA2_ENST00000371605.3_Silent_p.F2357F|ABCA2_ENST00000341511.6_Silent_p.F2358F Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 2357 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CAAAGTTCACGAACACCTGGT 0.682000 13 7 0 0 0.00136819 0 0 TLR4 7099 broad.mit.edu 37 9 120476725 120476725 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr9:120476725G>A ENST00000355622.6 + 3 2420 c.2319G>A c.(2317-2319)aaG>aaA p.K773K TLR4_ENST00000394487.4_Silent_p.K733K|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 773 TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 TCCTGCAGAAGGTGGAGAAGA 0.542000 11 52 0 0 0.000673444 0 0 GRIA3 2892 broad.mit.edu 37 X 122613938 122613938 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:122613938G>A ENST00000542149.1 + 15 2628 c.2464G>A c.(2464-2466)Gaa>Aaa p.E822K GRIA3_ENST00000264357.5_Intron|GRIA3_ENST00000371251.1_Intron|GRIA3_ENST00000371256.5_Silent_p.L783L P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 0 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TTGCAGTATTGAAACTCAGTG 0.383000 32 16 0 0 0.000953801 0 0 MAGEE1 57692 broad.mit.edu 37 X 75648631 75648631 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chrX:75648631C>T ENST00000361470.2 + 1 586 c.308C>T c.(307-309)tCc>tTc p.S103F NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 103 dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCTGGCACCTCCGTGCTGCCC 0.687000 11 0 0 0 0.00136819 0 0 FHL3 2275 broad.mit.edu 37 1 38465046 38465046 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:38465046G>A ENST00000373016.3 - 2 207 c.39C>T c.(37-39)tcC>tcT p.S13S FHL3_ENST00000485803.1_Intron NM_001243878.1|NM_004468.4 NP_001230807.1|NP_004459.2 Q13643 FHL3_HUMAN four and a half LIM domains 3 13 muscle organ development zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GTCCATACAGGGACTCGTTGC 0.542000 4 10 0 0 0.000602214 0 0 SOCS2 8835 broad.mit.edu 37 12 93968909 93968909 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:93968909C>T ENST00000340600.2 + 3 1149 c.551C>T c.(550-552)cCa>cTa p.P184L SOCS2_ENST00000549122.1_Missense_Mutation_p.P184L|SOCS2_ENST00000549206.1_Missense_Mutation_p.P184L|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000536696.2_Missense_Mutation_p.P184L|SOCS2_ENST00000551556.1_Missense_Mutation_p.P184L NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4 NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1 O14508 SOCS2_HUMAN suppressor of cytokine signaling 2 184 SOCS box. anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus cytoplasm growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1) 14 CTGCCTTTACCAACAAGACTA 0.408000 5 32 0 0 0.000602214 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558471 106558471 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:106558471C>T ENST00000526355.1 - 8 2471 c.2003G>A c.(2002-2004)cGa>cAa p.R668Q GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R699Q|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R689Q NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 668 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) ACTTTCTTCTCGTTTTAATAA 0.403000 43 52 0 0 0.000374591 0 0 MOB3A 126308 broad.mit.edu 37 19 2076834 2076834 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:2076834G>A ENST00000357066.3 - 4 979 c.600C>T c.(598-600)atC>atT p.I200I MOB3A_ENST00000592280.1_Silent_p.I200I|MOB3A_ENST00000592143.1_Intron NM_130807.2 NP_570719.1 Q96BX8 MOL2A_HUMAN MOB kinase activator 3A 200 intracellular metal ion binding CCTTGGTGTCGATGAGGCCGA 0.637000 8 4 0 0 0.000157383 0 0 DMP1 1758 broad.mit.edu 37 4 88583543 88583543 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:88583543G>A ENST00000339673.6 + 6 712 c.613G>A c.(613-615)Gga>Aga p.G205R DMP1_ENST00000282479.7_Missense_Mutation_p.G189R|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 205 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GAGCAGCCATGGAGACGGCTC 0.572000 8 34 0 0 0.000274275 0 0 VHL 7428 broad.mit.edu 37 3 10188264 10188264 + Missense_Mutation SNP T T A rs5030833 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:10188264T>A ENST00000256474.2 + 2 1247 c.407T>A c.(406-408)tTt>tAt p.F136Y VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 136 Involved in binding to CCT complex. F -> C (in pheochromocytoma and VHLD; type II; dbSNP:rs5030833).|F -> S (in VHLD).|F -> Y (in VHLD). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.F136S(2)|p.F136C(1)|p.F136fs*8(1)|p.F136del(1)|p.?fs(1)|p.N131fs*7(1)|p.L135fs*7(1)|p.E134fs*7(1)|p.F136Y(1)|p.F136fs*23(1)|p.V137fs*7(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) ACTGAATTATTTGTGCCATCT 0.428000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 38 76 0 0 0.00170553 0 0 FCGBP 8857 broad.mit.edu 37 19 40433468 40433468 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:40433468G>A ENST00000221347.6 - 2 808 c.801C>T c.(799-801)ttC>ttT p.F267F NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 267 IgGFc-binding. 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) TGGCCACAACGAAGGCCAAAT 0.597000 12 14 0 0 0.000151284 0 0 RIMS2 9699 broad.mit.edu 37 8 104778587 104778587 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:104778587G>A ENST00000406091.3 + 3 520 c.520G>A c.(520-522)Gag>Aag p.E174K NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 205 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAGAAATGAGGAGGCACCTCA 0.443000 HNSCC(12;0.0054) 6 48 0 0 8.12818e-05 0 0 FAM194A 131831 broad.mit.edu 37 3 150403761 150403761 + Missense_Mutation SNP C C G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:150403761C>G ENST00000295910.6 - 5 710 c.658G>C c.(658-660)Gag>Cag p.E220Q FAM194A_ENST00000491361.1_Missense_Mutation_p.E74Q NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 220 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ACCTCCAGCTCATATAAAATA 0.333000 17 72 0 0 0.00047179 0 0 LRRC56 115399 broad.mit.edu 37 11 541584 541584 + Missense_Mutation SNP G G C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:541584G>C ENST00000270115.7 + 5 725 c.225G>C c.(223-225)gaG>gaC p.E75D NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 75 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGACGCTGGAGATGTGTGTGG 0.637000 8 28 0 0 0.000442599 0 0 IGHE 3497 broad.mit.edu 37 14 106066504 106066504 + RNA SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:106066504C>T ENST00000577108.1 - 0 42 IGHE_ENST00000576077.1_RNA TGCTCCCATTCGGCCCTGGTC 0.632000 29 36 0 0 0.000878237 0 0 COL22A1 169044 broad.mit.edu 37 8 139833411 139833411 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:139833411C>T ENST00000303045.6 - 7 1659 c.1213G>A c.(1213-1215)Ggc>Agc p.G405S COL22A1_ENST00000435777.1_Missense_Mutation_p.G405S NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 405 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGGCGCTTGCCAATCACAGTC 0.597000 HNSCC(7;0.00092) 9 24 0 0 0.000978159 0 0 SHANK2 22941 broad.mit.edu 37 11 70331907 70331907 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:70331907C>T ENST00000338508.4 - 32 4493 c.4494G>A c.(4492-4494)cgG>cgA p.R1498R SHANK2_ENST00000409161.1_Silent_p.R901R|SHANK2_ENST00000449833.2_Silent_p.R902R|SHANK2_ENST00000423696.2_Silent_p.R1118R Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1118 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CGCTGCTACTCCGGCTGTCCA 0.592000 28 28 0 0 0.00106085 0 0 GCG 2641 broad.mit.edu 37 2 163000618 163000618 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:163000618G>A ENST00000418842.2 - 5 709 c.455C>T c.(454-456)tCt>tTt p.S152F GCG_ENST00000375497.3_Missense_Mutation_p.S152F NM_002054.4 NP_002045.1 P01275 GLUC_HUMAN glucagon 152 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9) 14 Exenatide(DB01276)|Phentolamine(DB00692) CATCTCATCAGAGAAAGAACC 0.393000 18 74 0 0 0.00121646 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558909 113558909 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:113558909G>A ENST00000284601.3 - 1 211 c.143C>T c.(142-144)tCt>tTt p.S48F NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 48 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 GTCTTCAGAAGAATCAGAACC 0.373000 52 69 0 0 0.000781405 0 0 VPS54 51542 broad.mit.edu 37 2 64147595 64147595 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:64147595C>T ENST00000354504.3 - 11 2166 c.1577G>A c.(1576-1578)aGa>aAa p.R526K VPS54_ENST00000409558.3_Missense_Mutation_p.R667K|VPS54_ENST00000272322.4_Missense_Mutation_p.R679K Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 679 E -> K (in Ref. 1; AAF37319). protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 CTTGGTTTTTCTCTCTTCATG 0.348000 23 36 0 0 0.000586117 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986421 51986421 + Missense_Mutation SNP A A G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:51986421A>G ENST00000396477.4 + 4 845 c.824A>G c.(823-825)aAc>aGc p.N275S CEACAM18_ENST00000451626.1_Missense_Mutation_p.N336S NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 336 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCCCTCCTGAACTTCTCAGAT 0.517000 26 84 0 0 0.00047179 0 0 TRRAP 8295 broad.mit.edu 37 7 98601834 98601834 + Missense_Mutation SNP G G C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:98601834G>C ENST00000359863.4 + 67 10498 c.10289G>C c.(10288-10290)gGa>gCa p.G3430A TRRAP_ENST00000355540.3_Missense_Mutation_p.G3401A|TRRAP_ENST00000446306.3_Missense_Mutation_p.G3419A NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3430 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGCGTTCCAGGATCCATGAAG 0.383000 19 194 0 0 0.00152264 0 0 CD163L1 283316 broad.mit.edu 37 12 7559384 7559384 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:7559384C>T ENST00000313599.3 - 5 888 c.831G>A c.(829-831)ctG>ctA p.L277L CD163L1_ENST00000396630.1_Silent_p.L277L|CD163L1_ENST00000416109.2_Silent_p.L287L Q9NR16 C163B_HUMAN CD163 molecule-like 1 277 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CTTGGATTTTCAGCTCTACTC 0.478000 49 116 0 0 0.000781405 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102912190 102912190 + RNA SNP T T G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:102912190T>G ENST00000312132.4 - 0 2389 TCTGGATAAATATGGAAGCGT 0.343000 4 67 0 0 0.00024832 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156918202 156918202 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:156918202G>A ENST00000368194.3 - 23 3053 c.2014C>T c.(2014-2016)Cgc>Tgc p.R672C ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R48C|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R632C NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 632 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGCGAGAGCGGGGCACGTTC 0.622000 16 69 0 0 0.000422831 0 0 RIN2 54453 broad.mit.edu 37 20 19955746 19955746 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:19955746C>T ENST00000255006.6 + 8 1373 c.1224C>T c.(1222-1224)ccC>ccT p.P408P RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 359 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 TCCCTCCACCCCGGCTGAAGA 0.607000 11 39 0 0 0.000673444 0 0 EPHB6 2051 broad.mit.edu 37 7 142566054 142566054 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:142566054C>T ENST00000392957.2 + 14 2761 c.1974C>T c.(1972-1974)atC>atT p.I658I EPHB6_ENST00000442129.1_Silent_p.I658I|EPHB6_ENST00000411471.2_Silent_p.I381I NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 658 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GTCAGGCCATCCGAGAACTTG 0.562000 24 55 0 0 0.000586117 0 0 TUT1 64852 broad.mit.edu 37 11 62343079 62343079 + Silent SNP G G T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:62343079G>T ENST00000476907.1 - 9 2803 c.2112C>A c.(2110-2112)gcC>gcA p.A704A TUT1_ENST00000308436.7_Silent_p.A742A|MIR3654_ENST00000496634.2_Intron Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 snRNA-specific 704 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 GGCTCTGCATGGCCCAGTCCT 0.637000 9 213 0.000442599 0.00247653 0.000442599 1 0 GPR137 56834 broad.mit.edu 37 11 64056683 64056683 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:64056683C>T ENST00000411458.1 + 9 1302 c.1274C>T c.(1273-1275)cCc>cTc p.P425L GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P367L|GPR137_ENST00000438980.2_3'UTR NM_001170726.1 NP_001164197.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 367 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 CCTCCCTCCCCCACAGAATAC 0.647000 10 38 0 0 0.000442599 0 0 EPDR1 54749 broad.mit.edu 37 7 37960619 37960619 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:37960619C>T ENST00000199448.4 + 1 457 c.78C>T c.(76-78)acC>acT p.T26T EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000559325.1_Silent_p.T146T|EPDR1_ENST00000423717.1_Silent_p.T26T NM_017549.4 NP_060019.2 Q9UM22 EPDR1_HUMAN ependymin related 1 26 cell-matrix adhesion extracellular region calcium ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 GGGCCTGGACCCTGTGCGGCC 0.761000 6 10 0 0 0.00116845 0 0 ANKRD50 57182 broad.mit.edu 37 4 125631414 125631414 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:125631414C>T ENST00000504087.1 - 2 1290 c.253G>A c.(253-255)Gcc>Acc p.A85T ANKRD50_ENST00000515641.1_Intron NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 85 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 GTACATAGGGCCGTCTTGCCA 0.502000 11 39 0 0 0.000151284 0 0 KRT34 3885 broad.mit.edu 37 17 39538518 39538518 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:39538518G>A ENST00000394001.1 - 1 137 c.107C>T c.(106-108)tCc>tTc p.S36F NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 36 Head. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) ACAGGTAATGGAAAAGCAGGT 0.582000 23 26 0 0 0.00047179 0 0 GPR128 84873 broad.mit.edu 37 3 100354664 100354664 + Silent SNP A A C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:100354664A>C ENST00000273352.3 + 5 859 c.591A>C c.(589-591)tcA>tcC p.S197S GPR128_ENST00000475887.1_5'UTR NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 197 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GAAATGCTTCACCTGAGGTAA 0.368000 4 20 0 0 0.00024832 0 0 ABCD3 5825 broad.mit.edu 37 1 94964161 94964161 + Nonsense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:94964161C>T ENST00000370214.4 + 17 1414 c.1390C>T c.(1390-1392)Cga>Tga p.R464* ABCD3_ENST00000454898.2_Nonsense_Mutation_p.R488*|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Nonsense_Mutation_p.R354*|ABCD3_ENST00000536817.1_Nonsense_Mutation_p.R391* NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 464 ABC transporter. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) TTTTCAGGTTCGATCTGGGGC 0.338000 9 21 0 0 0.000978159 0 0 OPN5 221391 broad.mit.edu 37 6 47754302 47754302 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:47754302G>A ENST00000489301.2 + 2 267 c.182G>A c.(181-183)cGa>cAa p.R61Q OPN5_ENST00000371211.2_Missense_Mutation_p.R61Q|OPN5_ENST00000393699.2_Missense_Mutation_p.R61Q Q6U736 OPN5_HUMAN opsin 5 61 phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 29 TCTTCTAGACGAAAGAAGAAG 0.378000 27 45 0 0 0.000586117 0 0 SLC22A6 9356 broad.mit.edu 37 11 62744811 62744811 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:62744811G>A ENST00000377871.3 - 9 1676 c.1410C>T c.(1408-1410)atC>atT p.I470I SLC22A6_ENST00000360421.4_Silent_p.I470I|SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000421062.2_Intron NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 470 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTGGGCTCACGATGCTGCCCA 0.622000 6 25 0 0 8.12818e-05 0 0 ZNF337 26152 broad.mit.edu 37 20 25656459 25656459 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:25656459C>T ENST00000376436.1 - 4 2004 c.1465G>A c.(1465-1467)Gga>Aga p.G489R RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.G489R|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.G457R|RP4-694B14.5_ENST00000439498.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCCCGACATCCATAAGGCTTC 0.498000 35 105 0 0 0.000491102 0 0 SLC2A14 144195 broad.mit.edu 37 12 7970528 7970528 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:7970528C>T ENST00000543909.1 - 15 2002 c.1243G>A c.(1243-1245)Gaa>Aaa p.E415K SLC2A14_ENST00000542505.1_Missense_Mutation_p.E56K|SLC2A14_ENST00000396589.2_Missense_Mutation_p.E415K|SLC2A14_ENST00000535295.1_Missense_Mutation_p.E306K|SLC2A14_ENST00000431042.2_Missense_Mutation_p.E392K|SLC2A14_ENST00000542546.1_Missense_Mutation_p.E306K|SLC2A14_ENST00000340749.5_Missense_Mutation_p.E392K|SLC2A14_ENST00000539924.1_Missense_Mutation_p.E430K Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 415 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity p.E415K(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) CTGAAGAGTTCGGCCACAATA 0.557000 16 51 0 0 0.00074312 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140616448 140616448 + RNA SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:140616448C>T ENST00000526308.1 + 0 2511 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 TTCCCAATCTCCTGTCCCGCG 0.517000 18 10 0 0 0.00074312 0 0 ARHGEF18 23370 broad.mit.edu 37 19 7518552 7518552 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:7518552C>T ENST00000593531.1 + 10 1364 c.1364C>T c.(1363-1365)tCc>tTc p.S455F ARHGEF18_ENST00000359920.6_Silent_p.L497L|ARHGEF18_ENST00000319670.9_Silent_p.L339L AGCGGCAGCTCCACCTGGAGG 0.582000 8 53 0 0 0.000442599 0 0 KCNV1 27012 broad.mit.edu 37 8 110984881 110984881 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:110984881G>A ENST00000524391.1 - 3 1629 c.597C>T c.(595-597)atC>atT p.I199I KCNV1_ENST00000297404.1_Silent_p.I199I Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 199 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GTTTCTCCAGGATATTCCAGA 0.498000 14 43 0 0 0.000151284 0 0 SLC6A17 388662 broad.mit.edu 37 1 110740760 110740760 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:110740760C>T ENST00000331565.4 + 12 2363 c.1878C>T c.(1876-1878)gtC>gtT p.V626V NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 626 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CCCTCATCGTCGTGGCGACGC 0.637000 8 6 0 0 0.000274275 0 0 MBD5 55777 broad.mit.edu 37 2 149247862 149247862 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:149247862C>T ENST00000407073.1 + 12 4959 c.3962C>T c.(3961-3963)tCc>tTc p.S1321F MBD5_ENST00000404807.1_Missense_Mutation_p.S1554F NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1321 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TCTCCAAGTTCCTCAAATAGT 0.458000 17 31 0 0 0.000422831 0 0 AC010731.4 0 broad.mit.edu 37 2 207509006 207509006 + RNA SNP T T C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:207509006T>C ENST00000543490.1 + 0 221 CCCCTTGAGCTTCACCTGCTC 0.527000 7 15 0 0 0.000157383 0 0 SLC17A1 6568 broad.mit.edu 37 6 25799114 25799114 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:25799114G>A ENST00000244527.4 - 12 1418 c.1303C>T c.(1303-1305)Ctg>Ttg p.L435L SLC17A1_ENST00000476801.1_Silent_p.L435L|SLC17A1_ENST00000468082.1_Silent_p.L381L|SLC17A1_ENST00000427328.1_Silent_p.L381L NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 435 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 GCTGCCATCAGGATGAAGGTT 0.358000 16 34 0 0 0.000422831 0 0 GLYAT 10249 broad.mit.edu 37 11 58477266 58477266 + Nonsense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:58477266C>T ENST00000344743.3 - 6 1005 c.864G>A c.(862-864)tgG>tgA p.W288* GLYAT_ENST00000529732.1_Nonsense_Mutation_p.W288* NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 288 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) TCCACTGGTTCCAGCTTCTGG 0.448000 25 82 0 0 0.000339439 0 0 LILRB1 10859 broad.mit.edu 37 19 55143633 55143633 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:55143633G>A ENST00000396331.1 + 6 963 c.606G>A c.(604-606)tcG>tcA p.S202S LILRB1_ENST00000396321.2_Silent_p.S202S|LILRB1_ENST00000396332.4_Silent_p.S202S|LILRB1_ENST00000434867.2_Silent_p.S202S|LILRB1_ENST00000396317.1_Silent_p.S202S|LILRB1_ENST00000448689.1_Silent_p.S202S|LILRB1_ENST00000396327.3_Silent_p.S202S|LILRB1_ENST00000324602.7_Silent_p.S202S|LILRB1_ENST00000418536.2_Silent_p.S202S|LILRB1_ENST00000396315.1_Silent_p.S202S|LILRB1_ENST00000427581.2_Silent_p.S238S NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 202 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CTTATGACTCGAACTCTCCCT 0.602000 HNSCC(37;0.09) 17 61 0 0 0.00121646 0 0 ACVR2A 92 broad.mit.edu 37 2 148657389 148657389 + Missense_Mutation SNP T T G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:148657389T>G ENST00000241416.7 + 4 1086 c.450T>G c.(448-450)atT>atG p.I150M ACVR2A_ENST00000404590.1_Missense_Mutation_p.I150M|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Missense_Mutation_p.I42M NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 150 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TTATGTTAATTGCGGGGATTG 0.438000 69 106 0 0 0.000781405 0 0 NFASC 23114 broad.mit.edu 37 1 204953262 204953262 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:204953262G>A ENST00000367172.4 + 22 2906 c.2578G>A c.(2578-2580)Gag>Aag p.E860K NFASC_ENST00000513543.1_Missense_Mutation_p.E856K|NFASC_ENST00000367170.4_Missense_Mutation_p.E860K|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.E845K|NFASC_ENST00000338586.6_Missense_Mutation_p.E860K|NFASC_ENST00000404076.1_Missense_Mutation_p.E839K|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000539706.1_Missense_Mutation_p.E856K|NFASC_ENST00000360049.4_Missense_Mutation_p.E856K|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000338515.6_Missense_Mutation_p.E860K|NFASC_ENST00000404907.1_Missense_Mutation_p.E856K O94856 NFASC_HUMAN neurofascin 860 Fibronectin type-III 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCAGCTCAGAGAGTACCGAGT 0.552000 6 30 0 0 0.00116845 0 0 FILIP1 27145 broad.mit.edu 37 6 76023520 76023520 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:76023520G>A ENST00000393004.2 - 5 2249 c.2028C>T c.(2026-2028)ttC>ttT p.F676F FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.F577F|FILIP1_ENST00000237172.7_Silent_p.F676F Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 676 p.F676F(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GTTGAGAGAGGAAGTTAGCCT 0.433000 54 107 0 0 0.000781405 0 0 TRPV6 55503 broad.mit.edu 37 7 142569553 142569553 + Nonsense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:142569553C>T ENST00000359396.3 - 15 2330 c.2085G>A c.(2083-2085)tgG>tgA p.W695* NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 695 Interaction with calmodulin. regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GAAGCCTTTCCCAATTGGCAC 0.577000 43 55 0 0 0.000374591 0 0 LOC220729 220729 broad.mit.edu 37 3 197348629 197348629 + RNA SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:197348629G>A ENST00000418868.1 - 0 630 NR_003266.2 CCACACAGCAGCACCGATGGG 0.562000 5 28 0 0 0.000602214 0 0 OR7D4 125958 broad.mit.edu 37 19 9325330 9325330 + Missense_Mutation SNP A A G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:9325330A>G ENST00000308682.2 - 1 212 c.184T>C c.(184-186)Ttc>Ctc p.F62L NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 TTGGAGAGGAAGAAGTACATG 0.542000 13 41 0 0 0.000219431 0 0 APCS 325 broad.mit.edu 37 1 159558215 159558215 + Missense_Mutation SNP G G T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:159558215G>T ENST00000255040.2 + 2 486 c.389G>T c.(388-390)gGg>gTg p.G130V NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 130 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) TGGATCAATGGGACACCTTTG 0.483000 10 62 6.40141e-05 0.000359834 0.000978159 1 0 NEGR1 257194 broad.mit.edu 37 1 72163761 72163761 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:72163761C>T ENST00000357731.4 - 4 836 c.597G>A c.(595-597)ggG>ggA p.G199G NEGR1_ENST00000434200.1_Intron|NEGR1_ENST00000306821.3_Silent_p.G71G|NEGR1_ENST00000467479.1_5'UTR NM_173808.2 NP_776169.2 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 199 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) ATTCATATTCCCCAGCCTGGT 0.368000 28 21 0 0 0.00127121 0 0 PTPN4 5775 broad.mit.edu 37 2 120702675 120702675 + Silent SNP A A G TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:120702675A>G ENST00000263708.2 + 16 2145 c.1374A>G c.(1372-1374)ggA>ggG p.G458G PTPN4_ENST00000544261.1_Silent_p.G91G NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 458 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) AGACCCCTGGAGATGGGAAGC 0.363000 13 55 0 0 0.000219431 0 0 SYNJ2 8871 broad.mit.edu 37 6 158505156 158505156 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:158505156C>T ENST00000355585.4 + 22 3233 c.3158C>T c.(3157-3159)cCc>cTc p.P1053L SYNJ2_ENST00000367121.3_Missense_Mutation_p.P1053L|SYNJ2_ENST00000367122.2_Missense_Mutation_p.P1053L|SYNJ2_ENST00000367112.1_Missense_Mutation_p.P138L NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1053 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CTGGCTCCTCCCAGCAAGTCA 0.557000 30 82 0 0 0.000409698 0 0 ARID5B 84159 broad.mit.edu 37 10 63851334 63851334 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:63851334C>T ENST00000279873.7 + 10 2522 c.2112C>T c.(2110-2112)ctC>ctT p.L704L ARID5B_ENST00000309334.5_Silent_p.L461L NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 704 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GGGCCAGCCTCTCCAGCAGCT 0.532000 17 29 0 0 0.00074312 0 0 PM20D1 148811 broad.mit.edu 37 1 205814641 205814641 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:205814641C>T ENST00000367136.4 - 3 345 c.301G>A c.(301-303)Gtg>Atg p.V101M PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 101 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) TACTCTTCCACGACTTCATGC 0.507000 40 47 0 0 0.000437636 0 0 TPO 7173 broad.mit.edu 37 2 1497795 1497795 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:1497795C>T ENST00000345913.4 + 11 2081 c.1990C>T c.(1990-1992)Ctg>Ttg p.L664L TPO_ENST00000382198.1_Silent_p.L491L|TPO_ENST00000382201.3_Silent_p.L607L|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Silent_p.L491L|TPO_ENST00000346956.3_Silent_p.L664L|TPO_ENST00000337415.3_Silent_p.L664L|TPO_ENST00000329066.4_Silent_p.L664L NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 664 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GATGAAGGCTCTGCGGGACGG 0.582000 10 30 0 0 0.00136819 0 0 TTLL6 284076 broad.mit.edu 37 17 46846537 46846537 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:46846537G>A ENST00000393382.3 - 15 2631 c.2490C>T c.(2488-2490)ctC>ctT p.L830L TTLL6_ENST00000433608.2_Silent_p.L523L NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 782 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TCTGCAAGAGGAGGGAGGACA 0.567000 15 12 0 0 0.000219431 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319617 21319617 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:21319617C>T ENST00000583088.1 + 3 1858 c.963C>T c.(961-963)atC>atT p.I321I KCNJ12_ENST00000331718.5_Silent_p.I321I 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) CCAATGAGATCCTGTGGGGTC 0.577000 Prostate(3;0.18) 28 164 0 0 0.000878237 0 0 NMBR 4829 broad.mit.edu 37 6 142409748 142409748 + Missense_Mutation SNP A A T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:142409748A>T ENST00000258042.1 - 1 188 c.48T>A c.(46-48)aaT>aaA p.N16K RP11-137J7.2_ENST00000454401.1_RNA NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 16 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) AACCGCTCTCATTCGCGCCGG 0.617000 6 15 0 0 0.000157383 0 0 DEFB119 245932 broad.mit.edu 37 20 29965143 29965143 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr20:29965143G>A ENST00000376321.3 - 2 280 c.161C>T c.(160-162)tCc>tTc p.S54F DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR NM_153289.2 NP_695021.2 Q8N690 DB119_HUMAN defensin, beta 119 54 defense response to bacterium extracellular region large_intestine(2)|lung(1)|prostate(1) 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GAGGCAGCAGGACTGACAATT 0.483000 118 99 0 0 0.000781405 0 0 NBL1 4681 broad.mit.edu 37 1 19969884 19969884 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:19969884G>A ENST00000289749.2 + 1 159 c.79G>A c.(79-81)Gga>Aga p.G27R MINOS1-NBL1_ENST00000602662.1_Intron NM_182744.3 NP_877421.2 P41271 NBL1_HUMAN neuroblastoma 1, DAN family BMP antagonist 0 extracellular region lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TAAAACACATGGACACAGGTA 0.507000 16 17 0 0 0.00121646 0 0 CDH23 64072 broad.mit.edu 37 10 73447448 73447448 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:73447448C>T ENST00000224721.6 + 18 2051 c.2046C>T c.(2044-2046)ttC>ttT p.F682F CDH23_ENST00000299366.7_Silent_p.F722F NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 677 Cadherin 7. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCGCCTACTTCGTCTCCGTGG 0.627000 4 17 0 0 0.000602214 0 0 MGAT5B 146664 broad.mit.edu 37 17 74868898 74868898 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:74868898C>T ENST00000428789.2 + 1 170 c.67C>T c.(67-69)Cct>Tct p.P23S MGAT5B_ENST00000374998.3_Intron|MGAT5B_ENST00000565675.1_Intron|MGAT5B_ENST00000569840.2_Intron|MGAT5B_ENST00000301618.4_Intron NM_198955.1 NP_945193.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 13 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GATGGCCCTTCCTGCCCTCCT 0.567000 6 29 0 0 8.12818e-05 0 0 FCGBP 8857 broad.mit.edu 37 19 40411937 40411937 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr19:40411937G>A ENST00000221347.6 - 7 3698 c.3691C>T c.(3691-3693)Ccg>Tcg p.P1231S NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1231 Cys-rich. 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) GCCTCGTGCGGTCCGCAGCTG 0.672000 14 27 0 0 0.000422831 0 0 MGMT 4255 broad.mit.edu 37 10 131506261 131506261 + Silent SNP C C T rs112373357 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:131506261C>T ENST00000306010.7 + 3 353 c.321C>T c.(319-321)atC>atT p.I107I MGMT_ENST00000462672.1_3'UTR NM_002412.3 NP_002403.2 B4DEE8 B4DEE8_HUMAN O-6-methylguanine-DNA methyltransferase 107 p.I76I(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) CCGAGGCTATCGAAGAGTTCC 0.597000 Direct reversal of damage 19 53 0 0 0.00121646 0 0 SCN10A 6336 broad.mit.edu 37 3 38770173 38770173 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr3:38770173C>T ENST00000449082.2 - 15 2499 c.2500G>A c.(2500-2502)Gac>Aac p.D834N NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 834 sensory perception voltage-gated sodium channel complex p.D834N(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGGAAGAAGTCGTGCATGTGC 0.512000 14 21 0 0 0.000151284 0 0 TG 7038 broad.mit.edu 37 8 133900398 133900398 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:133900398C>T ENST00000220616.4 + 10 2386 c.2346C>T c.(2344-2346)ttC>ttT p.F782F TG_ENST00000377869.1_Silent_p.F782F NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 782 Thyroglobulin type-1 7. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGCAGGTCTTCGAGTTGTACC 0.562000 4 19 0 0 0.00024832 0 0 OR4B1 119765 broad.mit.edu 37 11 48239105 48239105 + Silent SNP T T C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:48239105T>C ENST00000309562.2 + 1 762 c.744T>C c.(742-744)ttT>ttC p.F248F NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 TCATCTTGTTTTTTGGACCTG 0.473000 15 51 0 0 0.000422831 0 0 CATSPERB 79820 broad.mit.edu 37 14 92091309 92091309 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:92091309C>T ENST00000256343.3 - 18 1941 c.1785G>A c.(1783-1785)acG>acA p.T595T NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 595 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTTTAGGAGTCGTATGTTGCA 0.343000 12 36 0 0 0.000219431 0 0 EXT1 2131 broad.mit.edu 37 8 118831999 118831999 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:118831999G>A ENST00000378204.2 - 6 2258 c.1452C>T c.(1450-1452)atC>atT p.I484I NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 484 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TCACCGCATGGATGACTGCAG 0.517000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 42 43 0 0 0.000781405 0 0 ITFG3 83986 broad.mit.edu 37 16 314837 314837 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr16:314837C>T ENST00000399932.3 + 13 1926 c.1475C>T c.(1474-1476)gCc>gTc p.A492V ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000301678.3_Missense_Mutation_p.A492V|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301679.2_Missense_Mutation_p.A492V|ITFG3_ENST00000450082.2_Missense_Mutation_p.A492V Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 492 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) AGCCGCCACGCCGCCTACATC 0.672000 8 19 0 0 0.000442599 0 0 NAA16 79612 broad.mit.edu 37 13 41932585 41932585 + Missense_Mutation SNP C C A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr13:41932585C>A ENST00000379406.3 + 11 1557 c.1233C>A c.(1231-1233)ttC>ttA p.F411L NAA16_ENST00000379367.3_Missense_Mutation_p.F411L|NAA16_ENST00000403412.3_Missense_Mutation_p.F411L NM_024561.4 NP_078837.3 Q6N069 NAA16_HUMAN N(alpha)-acetyltransferase 16, NatA auxiliary subunit 411 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 TAGAATTATTCTATATGAAAG 0.318000 12 67 4.3838e-07 2.47942e-06 0.000151284 1 0 TTC37 9652 broad.mit.edu 37 5 94842677 94842677 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr5:94842677G>A ENST00000358746.2 - 30 3351 c.3053C>T c.(3052-3054)aCt>aTt p.T1018I TTC37_ENST00000515176.1_5'UTR NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1018 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 AACATTGTAAGTATCTTGGTC 0.313000 37 31 0 0 0.00128727 0 0 ADH7 131 broad.mit.edu 37 4 100349080 100349080 + Missense_Mutation SNP G G C TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr4:100349080G>C ENST00000437033.2 - 5 917 c.414C>G c.(412-414)caC>caG p.H138Q ADH7_ENST00000476959.1_Missense_Mutation_p.H158Q|ADH7_ENST00000482593.1_Missense_Mutation_p.H81Q|ADH7_ENST00000209665.4_Missense_Mutation_p.H150Q P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 150 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) TCATGAAGTGGTGGACTGGTT 0.418000 17 103 0 0 0.00121646 0 0 DSG3 1830 broad.mit.edu 37 18 29037053 29037053 + Missense_Mutation SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr18:29037053G>A ENST00000257189.4 + 3 265 c.182G>A c.(181-183)gGa>gAa p.G61E NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 61 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGCAGAGAAGGAGAAGATAAC 0.338000 18 22 0 0 0.000566183 0 0 NAB2 4665 broad.mit.edu 37 12 57485769 57485769 + Silent SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:57485769C>T ENST00000300131.3 + 2 1323 c.945C>T c.(943-945)ctC>ctT p.L315L NAB2_ENST00000357680.4_Silent_p.L315L|NAB2_ENST00000342556.6_Silent_p.L315L NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 315 NCD2. cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GCAAGCAGCTCAGCCTGCACG 0.547000 10 36 0 0 0.000442599 0 0 CREB5 9586 broad.mit.edu 37 7 28609991 28609991 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr7:28609991G>A ENST00000357727.2 + 5 690 c.300G>A c.(298-300)tcG>tcA p.S100S CREB5_ENST00000409603.1_Silent_p.S67S|CREB5_ENST00000396299.2_Silent_p.S67S|CREB5_ENST00000396300.2_Silent_p.S93S NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 100 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 AGAATATCTCGATGCATAATG 0.517000 142 236 0 0 0.000781405 0 0 LRP4 4038 broad.mit.edu 37 11 46900852 46900852 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr11:46900852G>A ENST00000378623.1 - 21 3071 c.2829C>T c.(2827-2829)agC>agT p.S943S NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 943 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) GGGGGAGCTGGCTTCCAATCA 0.562000 16 25 0 0 0.000958276 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318722 30318722 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr10:30318722C>T ENST00000375377.1 - 3 456 c.355G>A c.(355-357)Gga>Aga p.G119R NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 119 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TCTTGCCGTCCTCTTCTCCGG 0.577000 13 41 0 0 0.00136819 0 0 CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 7 158 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91899626 91899626 + RNA DEL A A - TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr2:91899626delA ENST00000436174.1 - 0 168 CCAGAGGCTCAAAAAAAAAAA 0.289 3 4 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327864 16327865 + In_Frame_Ins INS - - TGC TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr6:16327864_16327865insTGC ENST00000244769.4 - 8 1613_1614 c.677_678insGCA c.(676-678)cct>cGCAct p.226_226P>RT ATXN1_ENST00000436367.1_In_Frame_Ins_p.226_226P>RT NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 226 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CCCTGCTGAGGtgctgctgctg 0.653 4 4 --- --- --- --- HEY1 23462 broad.mit.edu 37 8 80677926 80677927 + In_Frame_Ins INS - - GTT TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr8:80677926_80677927insGTT ENST00000337919.5 - 5 616_617 c.423_424insAAC c.(421-426)tatgag>taAACtgag p.141_141Y>*T HEY1_ENST00000523976.1_In_Frame_Ins_p.47_47Y>*T|HEY1_ENST00000354724.3_In_Frame_Ins_p.137_137Y>*T|HEY1_ENST00000435063.2_5'UTR NM_001040708.1 NP_001035798.1 Q9Y5J3 HEY1_HUMAN hes-related family bHLH transcription factor with YRPW motif 1 137 Orange. angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding HEY1/NCOA2(10) cervix(1)|kidney(2)|large_intestine(5)|lung(14) 22 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) ATGATGCTCAGATAACGCGCAA 0.530 T NCOA2 mesenchymal chondrosarcoma OREG0018837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 67 --- --- --- --- TENC1 23371 broad.mit.edu 37 12 53449380 53449380 + Frame_Shift_Del DEL A A - TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr12:53449380delA ENST00000314250.6 + 9 892 c.602delA c.(601-603)ctfs p.H201fs TENC1_ENST00000379902.3_Frame_Shift_Del_p.H77fs|TENC1_ENST00000552570.1_Frame_Shift_Del_p.H201fs|TENC1_ENST00000549700.1_Frame_Shift_Del_p.H201fs|TENC1_ENST00000546602.1_Frame_Shift_Del_p.H201fs|TENC1_ENST00000451358.1_Frame_Shift_Del_p.H201fs|TENC1_ENST00000314276.3_Frame_Shift_Del_p.H211fs NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 201 Phosphatase tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CCTGAGCTGCATGCTCCACCC 0.612 30 35 --- --- --- --- YY1 7528 broad.mit.edu 37 14 100705788 100705790 + In_Frame_Del DEL CCA CCA - rs76675246 TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr14:100705788_100705790delCCA ENST00000262238.4 + 1 467_469 c.207_209delCCA c.(205-210)ggc>gg p.GH69del NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 69 Gly-rich. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) gGCACGCCGGccaccaccaccac 0.724 3 6 --- --- --- --- CYP19A1 1588 broad.mit.edu 37 15 51503156 51503163 + Frame_Shift_Del DEL AGTGTAAC AGTGTAAC - rs141305220 byFrequency TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr15:51503156_51503163delAGTGTAAC ENST00000396402.1 - 10 1507_1514 c.1354_1361delGTTACACT c.(1354-1362)tfs p.VTL452fs CYP19A1_ENST00000559878.1_Frame_Shift_Del_p.VTL452fs|CYP19A1_ENST00000260433.2_Frame_Shift_Del_p.VTL452fs|CYP19A1_ENST00000396404.4_Frame_Shift_Del_p.VTL452fs|RP11-108K3.1_ENST00000559909.1_lincRNA NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 452 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) TCGTCTCAGAAGTGTAACGAGGATGGCT 0.462 22 44 --- --- --- --- ABCA8 10351 broad.mit.edu 37 17 66871424 66871425 + Frame_Shift_Del DEL GA GA - TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx c80758ba-28fe-407c-acff-f0d3a8777bf4 443a2c82-82b4-4b1f-851c-ae271bf0b5d7 g.chr17:66871424_66871425delGA ENST00000269080.2 - 35 4624_4625 c.4487_4488delTC c.(4486-4488)tfs p.F1496fs ABCA8_ENST00000430352.2_Frame_Shift_Del_p.F1536fs|ABCA8_ENST00000586539.1_Frame_Shift_Del_p.F1536fs NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1496 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) CAGCCTGGGGGAAAAGCCTCAG 0.465 35 76 --- --- --- ---