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 PLXDC2 84898 broad.mit.edu 37 10 20432323 20432323 + Missense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr10:20432323C>T ENST00000377252.3 + 5 1482 c.641C>T c.(640-642)tCa>tTa p.S214L PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.S165L NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 214 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TCCAGAAATTCAACTGTCAGA 0.358000 40 10 0 0 0.00222228 0 0 IZUMO2 126123 broad.mit.edu 37 19 50657868 50657868 + Silent SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr19:50657868G>A ENST00000293405.3 - 6 612 c.612C>T c.(610-612)gtC>gtT p.V204V NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 204 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 AGACCACGATGACCACGAAGA 0.587000 30 41 0 0 0.00127121 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141184 143141184 + Missense_Mutation SNP G G A rs141559059 TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:143141184G>A ENST00000332690.1 + 1 639 c.639G>A c.(637-639)atG>atA p.M213I EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 213 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity p.M213I(2) breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TCATTTGCATGATTTTGCTCA 0.463000 41 74 0 0 0.0025221 0 0 MBD3 53615 broad.mit.edu 37 19 1578395 1578395 + Missense_Mutation SNP C C G TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr19:1578395C>G ENST00000590550.2 - 5 1025 c.652G>C c.(652-654)Gac>Cac p.D218H MBD3_ENST00000434436.3_Missense_Mutation_p.D274H|MBD3_ENST00000156825.1_Missense_Mutation_p.D274H|MBD3_ENST00000592012.1_Missense_Mutation_p.D242H O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 274 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) tcctcctcgtcttcctcgtcg 0.716000 21 25 0 0 0.00121646 0 0 PLXDC2 84898 broad.mit.edu 37 10 20466284 20466284 + Missense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr10:20466284C>T ENST00000377252.3 + 9 1848 c.1007C>T c.(1006-1008)cCc>cTc p.P336L PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.P287L NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 336 PSI. integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 AGATGTGGCCCCTGTGTATCT 0.363000 37 8 0 0 0.00222228 0 0 LGSN 51557 broad.mit.edu 37 6 63990777 63990777 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr6:63990777G>A ENST00000370657.4 - 4 712 c.679C>T c.(679-681)Cct>Tct p.P227S LGSN_ENST00000370658.5_Intron Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 227 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) GTTAAAGCAGGAAAAGATATA 0.398000 16 29 0 0 0.000422831 0 0 BMP2K 55589 broad.mit.edu 37 4 79793862 79793862 + Missense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr4:79793862C>T ENST00000335016.5 + 13 1869 c.1703C>T c.(1702-1704)cCt>cTt p.P568L BMP2K_ENST00000502871.1_Missense_Mutation_p.P568L NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 568 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 CTTACCTCCCCTCAAGAGTTC 0.463000 29 9 0 0 0.000878237 0 0 MROH9 80133 broad.mit.edu 37 1 170959135 170959135 + Missense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr1:170959135C>T ENST00000367759.4 + 11 1173 c.1019C>T c.(1018-1020)cCa>cTa p.P340L MROH9_ENST00000367758.3_Missense_Mutation_p.P340L NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TACCCAGTTCCAGCAGACGAG 0.473000 16 17 0 0 0.000958276 0 0 CTNND2 1501 broad.mit.edu 37 5 10992701 10992701 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr5:10992701G>A ENST00000304623.8 - 19 3362 c.3173C>T c.(3172-3174)tCc>tTc p.S1058F CTNND2_ENST00000511377.1_Missense_Mutation_p.S967F|CTNND2_ENST00000503622.1_Missense_Mutation_p.S721F|CTNND2_ENST00000359640.2_Missense_Mutation_p.S1000F|CTNND2_ENST00000458100.2_Missense_Mutation_p.S625F|CTNND2_ENST00000495388.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1058 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 AGGGGAGATGGAGGGCGTGCG 0.572000 36 43 0 0 0.00170553 0 0 STOML3 161003 broad.mit.edu 37 13 39550878 39550878 + Silent SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr13:39550878G>A ENST00000379631.4 - 2 453 c.109C>T c.(109-111)Ctg>Ttg p.L37L STOML3_ENST00000423210.1_Silent_p.L28L NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 37 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) ATCACCAACAGGAAAGAGAGG 0.418000 11 17 0 0 0.00136819 0 0 VARS 7407 broad.mit.edu 37 6 31759399 31759399 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr6:31759399G>A ENST00000375663.3 - 8 1528 c.1088C>T c.(1087-1089)tCc>tTc p.S363F VARS_ENST00000444930.2_Missense_Mutation_p.S68F NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 363 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) TCGAGTCAGGGAGTCCTGGAT 0.592000 98 184 0 0 0.000781405 0 0 HDAC6 10013 broad.mit.edu 37 X 48681101 48681101 + Silent SNP A A C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chrX:48681101A>C ENST00000334136.5 + 24 2587 c.2409A>C c.(2407-2409)ccA>ccC p.P803P HDAC6_ENST00000376619.2_Silent_p.P803P|HDAC6_ENST00000444343.2_Silent_p.P817P Q9UBN7 HDAC6_HUMAN histone deacetylase 6 803 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding p.P803P(2) breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) GAGACCCACCACCCCTGCTGA 0.587000 6 28 0 0 0.00136819 0 0 MYO15A 51168 broad.mit.edu 37 17 18022636 18022636 + Silent SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr17:18022636C>T ENST00000205890.5 + 2 860 c.522C>T c.(520-522)ttC>ttT p.F174F NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 174 Myosin head-like. 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) AACTCCCCTTCCCGTCGGGTG 0.711000 24 27 0 0 0.000720815 0 0 HOXA11 3207 broad.mit.edu 37 7 27222434 27222434 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:27222434G>A ENST00000006015.3 - 2 994 c.923C>T c.(922-924)tCa>tTa p.S308L NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 308 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 TGGATTTGCTGAGTAGTACTG 0.443000 T NUP98 CML 27 49 0 0 0.001512 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389632 150389632 + Silent SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:150389632C>T ENST00000223293.5 + 3 352 c.258C>T c.(256-258)gaC>gaT p.D86D NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 86 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTGGAAGGAccactgtgaag 0.502000 20 21 0 0 0.000958276 0 0 DTX2 113878 broad.mit.edu 37 7 76112398 76112398 + Missense_Mutation SNP G G A rs142155908 byFrequency TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:76112398G>A ENST00000324432.5 + 5 1352 c.842G>A c.(841-843)cGc>cAc p.R281H DTX2_ENST00000413936.2_Missense_Mutation_p.R281H|DTX2_ENST00000307569.8_Missense_Mutation_p.R281H|DTX2_ENST00000446600.1_Missense_Mutation_p.R190H|DTX2_ENST00000430490.2_Missense_Mutation_p.R281H|DTX2_ENST00000446820.2_Missense_Mutation_p.R281H NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 281 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 CCCCTCTACCGCTCCAGCCTC 0.682000 8 64 0 0 0.00244969 0 0 ZNF334 55713 broad.mit.edu 37 20 45130161 45130161 + Missense_Mutation SNP C C A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr20:45130161C>A ENST00000457685.2 - 6 3026 c.1703G>T c.(1702-1704)gGg>gTg p.G568V ZNF334_ENST00000593880.1_Missense_Mutation_p.G629V|ZNF334_ENST00000347606.4_Missense_Mutation_p.G606V Q9HCZ1 ZN334_HUMAN zinc finger protein 334 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) GAAGGATTTCCCACATTCATT 0.423000 37 211 6.29468e-14 3.13409e-13 0.000953801 1 0 SGCZ 137868 broad.mit.edu 37 8 14412245 14412245 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr8:14412245G>A ENST00000382080.1 - 2 945 c.230C>T c.(229-231)aCt>aTt p.T77I SGCZ_ENST00000421524.2_Missense_Mutation_p.T64I NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 64 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ACTTACCACAGTGAAATTCAT 0.328000 16 22 0 0 0.000422831 0 0 CCDC170 80129 broad.mit.edu 37 6 151939193 151939193 + Nonsense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr6:151939193C>T ENST00000367290.5 + 11 2169 c.2080C>T c.(2080-2082)Cag>Tag p.Q694* CCDC170_ENST00000239374.7_Nonsense_Mutation_p.Q687* Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 687 CCATTCACATCAGCATCACTT 0.473000 43 54 0 0 0.00222228 0 0 IL9R 3581 broad.mit.edu 37 X 155233493 155233493 + Nonsense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chrX:155233493G>A ENST00000540897.1 + 5 578 c.510G>A c.(508-510)tgG>tgA p.W170* IL9R_ENST00000244174.5_Missense_Mutation_p.D136N|IL9R_ENST00000424344.3_Missense_Mutation_p.D115N|IL9R_ENST00000369423.2_Nonsense_Mutation_p.W180* NM_176786.1 NP_789743.2 Q01113 IL9R_HUMAN interleukin 9 receptor 134 Fibronectin type-III. cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CAGCCTGGTGGACCCGGAGTA 0.622000 25 61 0 0 0.00178596 0 0 STC1 6781 broad.mit.edu 37 8 23709033 23709033 + Silent SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr8:23709033G>A ENST00000290271.2 - 3 556 c.273C>T c.(271-273)ttC>ttT p.F91F STC1_ENST00000524323.1_Silent_p.F22F NM_003155.2 NP_003146.1 P52823 STC1_HUMAN stanniocalcin 1 91 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TCTCTTTGACGAATGCTTTTC 0.507000 15 23 0 0 0.00244969 0 0 SALL4 57167 broad.mit.edu 37 20 50400980 50400980 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr20:50400980G>A ENST00000217086.4 - 4 3097 c.2986C>T c.(2986-2988)Cct>Tct p.P996S SALL4_ENST00000395997.3_Missense_Mutation_p.P559S|SALL4_ENST00000371539.3_Missense_Mutation_p.P219S NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 996 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGGAGGGTAGGAACCCCCCCA 0.557000 28 71 0 0 0.00127121 0 0 FREM1 158326 broad.mit.edu 37 9 14841567 14841567 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr9:14841567G>A ENST00000380881.4 - 11 2577 c.1762C>T c.(1762-1764)Ctt>Ttt p.L588F FREM1_ENST00000380880.3_Missense_Mutation_p.L587F|FREM1_ENST00000422223.2_Missense_Mutation_p.L587F Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 587 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCCCTCTGAAGGAAGCCATGG 0.383000 60 21 0 0 0.000781405 0 0 PAMR1 25891 broad.mit.edu 37 11 35454298 35454298 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr11:35454298G>A ENST00000378880.2 - 11 2214 c.1769C>T c.(1768-1770)tCc>tTc p.S590F PAMR1_ENST00000532848.1_Missense_Mutation_p.S550F|PAMR1_ENST00000278360.3_Missense_Mutation_p.S607F|PAMR1_ENST00000378878.3_Missense_Mutation_p.S479F NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 590 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CTCCTGGAAGGAAGTGCTGAG 0.597000 18 5 0 0 0.00074312 0 0 ATAD5 79915 broad.mit.edu 37 17 29220572 29220572 + Silent SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr17:29220572G>A ENST00000321990.4 + 21 5079 c.4701G>A c.(4699-4701)aaG>aaA p.K1567K NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1567 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGAAACAAAAGAAAACATTGG 0.373000 14 29 0 0 0.00244969 0 0 ECEL1 9427 broad.mit.edu 37 2 233344912 233344912 + Missense_Mutation SNP C C A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr2:233344912C>A ENST00000304546.1 - 18 2489 c.2279G>T c.(2278-2280)tGt>tTt p.C760F ECEL1_ENST00000409941.1_Missense_Mutation_p.C758F NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 760 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) GTCCTTGGGACAGTGGAAAGC 0.652000 12 31 0.000151284 0.000745391 0.00185496 1 0 GRIN2A 2903 broad.mit.edu 37 16 9923387 9923387 + Missense_Mutation SNP A A T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr16:9923387A>T ENST00000396573.2 - 10 2209 c.1900T>A c.(1900-1902)Tgg>Agg p.W634R GRIN2A_ENST00000396575.2_Missense_Mutation_p.W634R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.W634R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.W477R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.W634R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.W634R NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 634 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAGAAGGCCCATACAGATACC 0.493000 34 36 0 0 0.00209593 0 0 CDH6 1004 broad.mit.edu 37 5 31317540 31317540 + Missense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr5:31317540C>T ENST00000265071.2 + 10 1836 c.1571C>T c.(1570-1572)tCg>tTg p.S524L CDH6_ENST00000514738.1_Missense_Mutation_p.S469L NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 524 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CACCAATTTTCGTTTTCCTTG 0.403000 43 14 0 0 0.000680045 0 0 FAM86C1 55199 broad.mit.edu 37 11 71507232 71507232 + Missense_Mutation SNP C C G rs113587125 by1000genomes TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr11:71507232C>G ENST00000528685.1 + 3 329 c.329C>G c.(328-330)cCg>cGg p.P110R FAM86C1_ENST00000346333.6_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron Q9NVL1 FA86C_HUMAN family with sequence similarity 86, member C1 0 lung(1) 1 CACGCCCACCCGGGCCTGCAT 0.612000 5 89 0 0 0.000157383 0 0 PRG4 10216 broad.mit.edu 37 1 186276052 186276052 + Missense_Mutation SNP A A C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr1:186276052A>C ENST00000445192.2 + 7 1246 c.1201A>C c.(1201-1203)Acc>Ccc p.T401P PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P|PRG4_ENST00000367483.4_Missense_Mutation_p.T360P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 401 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T401P(4)|p.T400>?(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.642000 6 72 0 0 0.000442599 0 0 SPATA31A3 727830 broad.mit.edu 37 9 40702793 40702793 + Silent SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr9:40702793C>T ENST00000356699.5 + 4 479 c.450C>T c.(448-450)tcC>tcT p.S150S SPATA31A3_ENST00000463536.1_3'UTR NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 CCATTCTCTCCCTGTTAGCTT 0.597000 109 361 0 0 0.000781405 0 0 ACAP1 9744 broad.mit.edu 37 17 7251257 7251257 + Missense_Mutation SNP T T C rs143351258 TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr17:7251257T>C ENST00000158762.3 + 15 1566 c.1360T>C c.(1360-1362)Ttc>Ctc p.F454L NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 454 Arf-GAP.|Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 TGGTGTTCACTTCTCCAAAGT 0.597000 11 64 0 0 0.00136819 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971208 21971208 + Splice_Site SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr9:21971208C>T ENST00000579755.1 - 2 486 c.e2-1 CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCATCATGACCTGCCAGAGAG 0.667000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 24 19 0 0 0.000586117 0 0 GLDN 342035 broad.mit.edu 37 15 51676081 51676081 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr15:51676081G>A ENST00000335449.6 + 4 589 c.533G>A c.(532-534)gGa>gAa p.G178E GLDN_ENST00000396399.2_Missense_Mutation_p.G54E NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 178 Collagen-like 1. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) GGAAAAAGAGGAAAAATGGGT 0.483000 13 27 0 0 0.00136819 0 0 KCNIP4 80333 broad.mit.edu 37 4 20734378 20734378 + Missense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr4:20734378C>T ENST00000382148.3 - 6 829 c.493G>A c.(493-495)Gat>Aat p.D165N KCNIP4_ENST00000382152.2_Missense_Mutation_p.D190N|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Missense_Mutation_p.D128N|KCNIP4_ENST00000382150.4_Missense_Mutation_p.D169N|KCNIP4_ENST00000509207.1_Missense_Mutation_p.D128N|KCNIP4_ENST00000447367.2_Missense_Mutation_p.D156N|PACRGL_ENST00000507634.1_Intron NM_001035003.1 NP_001030175.1 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 190 EF-hand 3. plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) CCCATCATATCGTATATTGCT 0.378000 22 29 0 0 0.00229938 0 0 NPSR1 387129 broad.mit.edu 37 7 34698172 34698172 + Splice_Site SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:34698172G>A ENST00000360581.1 + 1 275 c.e1+1 NPSR1_ENST00000359791.1_Splice_Site|NPSR1_ENST00000465305.1_Splice_Site|NPSR1_ENST00000381539.3_Splice_Site|AC005493.1_ENST00000399077.1_Intron|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381553.3_Splice_Site|NPSR1_ENST00000381542.1_Splice_Site|NPSR1_ENST00000531252.1_Splice_Site NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CTCCTTTAAGGTAAGTTTCTT 0.438000 29 32 0 0 0.00106085 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959320 45959320 + Silent SNP A A G TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr21:45959320A>G ENST00000400375.1 - 1 758 c.714T>C c.(712-714)ccT>ccC p.P238P TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 238 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 GCCGGCATACAGGGCGGCAGA 0.692000 5 83 0 0 0.00116845 0 0 RARS 5917 broad.mit.edu 37 5 167915736 167915736 + Nonsense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr5:167915736C>T ENST00000231572.3 + 2 229 c.175C>T c.(175-177)Cga>Tga p.R59* RARS_ENST00000538719.1_5'UTR NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 59 Could be involved in the assembly of the multisynthetase complex. arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding p.R59*(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) GAATATTCTTCGAAAGGTGAG 0.338000 20 30 0 0 0.00188189 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 4 73 0 0 0.000157383 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879494 144879494 + Missense_Mutation SNP C C A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr1:144879494C>A ENST00000369359.4 - 30 4402 c.4364G>T c.(4363-4365)cGg>cTg p.R1455L PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1275L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1319L|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1319L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1455L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1319 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGTTGAGCCCCGGCGTCCCTG 0.507000 T PDGFRB MPD 8 911 0.00116845 0.00558257 0.00116845 1 0 PDZD2 23037 broad.mit.edu 37 5 32058048 32058048 + Missense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr5:32058048C>T ENST00000438447.1 + 12 2427 c.2039C>T c.(2038-2040)cCc>cTc p.P680L PDZD2_ENST00000282493.3_Missense_Mutation_p.P680L O15018 PDZD2_HUMAN PDZ domain containing 2 680 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGCCTCACACCCTGCTCGACA 0.532000 OREG0016543 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 9 0 0 0.000308642 0 0 PKDREJ 10343 broad.mit.edu 37 22 46657077 46657077 + Missense_Mutation SNP A A T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr22:46657077A>T ENST00000253255.5 - 1 2142 c.2143T>A c.(2143-2145)Tcc>Acc p.S715T NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 715 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TTCAAAACGGAAGCTACTATA 0.398000 22 53 0 0 0.00188189 0 0 IL1R1 3554 broad.mit.edu 37 2 102785060 102785060 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr2:102785060G>A ENST00000410023.1 + 7 976 c.658G>A c.(658-660)Gaa>Aaa p.E220K IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409929.1_Missense_Mutation_p.E220K|IL1R1_ENST00000409329.1_Missense_Mutation_p.E220K|IL1R1_ENST00000424272.1_Missense_Mutation_p.E220K|IL1R1_ENST00000233946.3_Missense_Mutation_p.E220K|IL1R1_ENST00000409288.1_Missense_Mutation_p.E220K P14778 IL1R1_HUMAN interleukin 1 receptor, type I 220 innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) TCTTTCAGAGGAAAACAAACC 0.428000 40 70 0 0 0.00285205 0 0 MEPE 56955 broad.mit.edu 37 4 88767038 88767038 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr4:88767038G>A ENST00000497649.2 + 6 1324 c.946G>A c.(946-948)Gat>Aat p.D316N MEPE_ENST00000560249.1_Missense_Mutation_p.D227N|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.D371N|MEPE_ENST00000424957.3_Missense_Mutation_p.D340N|MEPE_ENST00000361056.3_Missense_Mutation_p.D340N|MEPE_ENST00000540395.1_Missense_Mutation_p.D227N Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 340 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding p.D340N(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) GGGCAGCAACGATATCATGGG 0.473000 42 8 0 0 0.00195071 0 0 DNMT1 1786 broad.mit.edu 37 19 10246815 10246815 + Silent SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr19:10246815G>A ENST00000340748.4 - 37 4825 c.4590C>T c.(4588-4590)ccC>ccT p.P1530P DNMT1_ENST00000359526.4_Silent_p.P1546P|DNMT1_ENST00000540357.1_Silent_p.P1533P P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1530 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCATGGGCTCGGGGTTGGTGA 0.647000 27 32 0 0 0.001512 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093699 143093699 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr6:143093699G>A ENST00000367603.2 - 5 2919 c.2177C>T c.(2176-2178)tCc>tTc p.S726F HIVEP2_ENST00000012134.2_Missense_Mutation_p.S726F|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S726F NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 726 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GTCATAATCGGAAGCCATGAT 0.522000 37 37 0 0 0.00111076 0 0 BAHCC1 57597 broad.mit.edu 37 17 79409801 79409801 + Missense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr17:79409801C>T ENST00000307745.7 + 9 1426 c.1426C>T c.(1426-1428)Ccc>Tcc p.P476S CAGCGCAGGCCCCGAGGCCTC 0.667000 9 8 0 0 0.000442599 0 0 GRIA4 2893 broad.mit.edu 37 11 105795269 105795269 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr11:105795269G>A ENST00000393127.2 + 12 2067 c.1621G>A c.(1621-1623)Gat>Aat p.D541N GRIA4_ENST00000525187.1_Missense_Mutation_p.D541N|GRIA4_ENST00000282499.5_Missense_Mutation_p.D541N|GRIA4_ENST00000530497.1_Missense_Mutation_p.D541N NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 541 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TTCCTTCTTGGATCCTCTGGC 0.423000 37 11 0 0 0.00111076 0 0 OTUD7A 161725 broad.mit.edu 37 15 31862357 31862357 + Silent SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr15:31862357C>T ENST00000382902.1 - 2 287 c.195G>A c.(193-195)caG>caA p.Q65Q OTUD7A_ENST00000307050.4_Silent_p.Q65Q Q8TE49 OTU7A_HUMAN OTU domain containing 7A 65 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CCTGGCGGAGCTGCTCATAGT 0.567000 37 43 0 0 0.00170553 0 0 SPATA31A3 727830 broad.mit.edu 37 9 40702792 40702792 + Missense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr9:40702792C>T ENST00000356699.5 + 4 478 c.449C>T c.(448-450)tCc>tTc p.S150F SPATA31A3_ENST00000463536.1_3'UTR NM_001083124.1 NP_001076593.1 SPATA31 subfamily A, member 3 CCCATTCTCTCCCTGTTAGCT 0.602000 106 355 0 0 0.000781405 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803646 142803646 + RNA SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr1:142803646G>A ENST00000423385.1 - 0 1319 gttgtattctgggctagacat 0.299000 6 25 0 0 0.00116845 0 0 NGEF 25791 broad.mit.edu 37 2 233834931 233834931 + Missense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr2:233834931C>T ENST00000264051.3 - 3 654 c.376G>A c.(376-378)Gaa>Aaa p.E126K NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 126 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|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 cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TACCTCATTTCCTGGGCTCCT 0.498000 28 37 0 0 0.00106085 0 0 NEIL3 55247 broad.mit.edu 37 4 178281684 178281684 + Silent SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr4:178281684C>T ENST00000264596.3 + 9 1606 c.1488C>T c.(1486-1488)ggC>ggT p.G496G NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 496 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) TGACAGATGGCCCTCGTACCT 0.478000 Base excision repair (BER), DNA glycosylases 21 8 0 0 0.000586117 0 0 DMRT2 10655 broad.mit.edu 37 9 1056913 1056913 + Silent SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr9:1056913G>A ENST00000382251.3 + 5 1655 c.1326G>A c.(1324-1326)acG>acA p.T442T DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Silent_p.T442T|DMRT2_ENST00000302441.6_Silent_p.T442T Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 2 442 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.T442T(1) large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) TTGTTGACACGGACTCCCTGG 0.527000 80 15 0 0 0.000781405 0 0 OR9G4 283189 broad.mit.edu 37 11 56510999 56510999 + Silent SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr11:56510999G>A ENST00000302957.3 - 1 288 c.289C>T c.(289-291)Ctg>Ttg p.L97L NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CAACTGGCCAGGATTTTGGGG 0.438000 52 83 0 0 0.000781405 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871926 51871926 + Silent SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr20:51871926C>T ENST00000371497.5 + 2 2816 c.1929C>T c.(1927-1929)gcC>gcT p.A643A TSHZ2_ENST00000603338.2_Silent_p.A640A|TSHZ2_ENST00000329613.6_Silent_p.A640A NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 643 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) CTCCAGAAGCCAAAAAGACCG 0.557000 64 44 0 0 0.000781405 0 0 PELI2 57161 broad.mit.edu 37 14 56746398 56746398 + Missense_Mutation SNP T T G TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr14:56746398T>G ENST00000267460.4 + 3 498 c.212T>G c.(211-213)aTc>aGc p.I71S NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 71 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 tattaGGCTATCAGCTGCAAA 0.378000 33 35 0 0 0.00283554 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519545 113519545 + Silent SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:113519545G>A ENST00000284601.3 - 4 1670 c.1602C>T c.(1600-1602)ttC>ttT p.F534F NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 534 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 AGATTGTTTGGAAATTTTTTC 0.373000 21 24 0 0 0.00121646 0 0 SLC35D3 340146 broad.mit.edu 37 6 137245645 137245645 + Silent SNP C C G TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr6:137245645C>G ENST00000331858.4 + 2 1227 c.1062C>G c.(1060-1062)ggC>ggG p.G354G NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 354 carbohydrate transport integral to membrane p.G354G(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) CAGCAGGTGGCCCCGCTCAGG 0.652000 15 16 0 0 0.000308642 0 0 HMGCS2 3158 broad.mit.edu 37 1 120293428 120293428 + Silent SNP G G C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr1:120293428G>C ENST00000369406.3 - 9 1573 c.1524C>G c.(1522-1524)gtC>gtG p.V508V HMGCS2_ENST00000544913.2_Silent_p.V466V NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 508 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) ACCACCTTTAGACGGGACGCC 0.537000 600 1624 0 0 0.000781405 0 0 FOXN2 3344 broad.mit.edu 37 2 48586205 48586205 + Missense_Mutation SNP T T C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr2:48586205T>C ENST00000340553.3 + 4 818 c.557T>C c.(556-558)tTa>tCa p.L186S NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 186 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) AAAGGTTCCTTATGGTGTGTT 0.343000 13 19 0 0 0.000308642 0 0 USH1C 10083 broad.mit.edu 37 11 17547910 17547910 + Missense_Mutation SNP G G C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr11:17547910G>C ENST00000005226.7 - 8 657 c.658C>G c.(658-660)Cga>Gga p.R220G USH1C_ENST00000318024.4_Missense_Mutation_p.R220G|USH1C_ENST00000527720.1_Missense_Mutation_p.R189G|USH1C_ENST00000527020.1_Missense_Mutation_p.R220G NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 220 PDZ 2. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 CCAAGGCCTCGGGAGCCTACC 0.617000 9 5 0 0 0.000442599 0 0 INTS4 92105 broad.mit.edu 37 11 77614629 77614629 + Missense_Mutation SNP A A G TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr11:77614629A>G ENST00000534064.1 - 17 2088 c.2054T>C c.(2053-2055)tTg>tCg p.L685S AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.L60S NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 685 snRNA processing integrator complex protein binding p.L685S(3) INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) CTTCAAATACAAAGGGGCAGC 0.478000 3 43 0 0 6.4e-05 0 0 PTPRD 5789 broad.mit.edu 37 9 8486101 8486101 + Missense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr9:8486101C>T ENST00000381196.4 - 25 3259 c.2716G>A c.(2716-2718)Gag>Aag p.E906K PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.E884K|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E893K|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.E906K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E906K|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 906 Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TTCACCATCTCCTCCCCAAAG 0.468000 TSP Lung(15;0.13) 23 6 0 0 0.00278032 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141130 143141130 + Silent SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:143141130C>T ENST00000332690.1 + 1 585 c.585C>T c.(583-585)ttC>ttT p.F195F EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 195 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TCTATCTCTTCCCTCTAAAAA 0.423000 67 97 0 0 0.000781405 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184607856 184607856 + Silent SNP A A T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr4:184607856A>T ENST00000334690.6 + 18 2050 c.1848A>T c.(1846-1848)ccA>ccT p.P616P TRAPPC11_ENST00000512476.1_Silent_p.P222P|TRAPPC11_ENST00000357207.4_Silent_p.P616P NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 616 CTGATTGTCCACATCCCATTA 0.368000 84 184 0 0 0.000781405 0 0 PREX2 80243 broad.mit.edu 37 8 68972998 68972998 + Silent SNP T T C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr8:68972998T>C ENST00000288368.4 + 11 1600 c.1323T>C c.(1321-1323)aaT>aaC p.N441N PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 441 DEP 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TATTAGAAAATGGAATCATTC 0.348000 13 67 0 0 0.00136819 0 0 BAGE2 85319 broad.mit.edu 37 21 11058349 11058349 + RNA SNP T T G rs209032 TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr21:11058349T>G ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 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) GAGAGAAATCTCTTTATAAAA 0.338000 6 89 0 0 0.00198382 0 0 PELP1 27043 broad.mit.edu 37 17 4575136 4575136 + Silent SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr17:4575136G>A ENST00000301396.4 - 16 3807 c.3582C>T c.(3580-3582)ccC>ccT p.P1194P PELP1_ENST00000574876.1_Silent_p.P1050P|PELP1_ENST00000572293.1_Silent_p.P1100P|PELP1_ENST00000436683.2_Silent_p.P826P|PELP1_ENST00000269230.7_Silent_p.P960P Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 1050 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 CAAGCTCCTGGGGAGGGGGCC 0.657000 15 33 0 0 0.000422831 0 0 ZNF536 9745 broad.mit.edu 37 19 30936347 30936347 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr19:30936347G>A ENST00000355537.3 + 2 2025 c.1878G>A c.(1876-1878)atG>atA p.M626I NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTGGGAACATGAAGGAGAAGC 0.597000 58 102 0 0 0.000781405 0 0 CNTN5 53942 broad.mit.edu 37 11 100126527 100126527 + Missense_Mutation SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr11:100126527G>A ENST00000524871.1 + 17 2331 c.2041G>A c.(2041-2043)Gaa>Aaa p.E681K CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.E681K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E681K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E607K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E681K NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 681 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AATTGTTGAGGAAATAACCGA 0.478000 44 14 0 0 0.000781405 0 0 EEF1D 1936 broad.mit.edu 37 8 144671200 144671200 + Missense_Mutation SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr8:144671200C>T ENST00000532741.1 - 1 1430 c.1202G>A c.(1201-1203)gGt>gAt p.G401D EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.G351D|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.G351D|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000531621.1_Intron P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) AGACCGAGGACCGGGTCGGTG 0.692000 10 46 0 0 0.000442599 0 0 LLGL2 3993 broad.mit.edu 37 17 73567827 73567827 + Silent SNP C C T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr17:73567827C>T ENST00000392550.3 + 18 2373 c.2256C>T c.(2254-2256)gcC>gcT p.A752A LLGL2_ENST00000577200.1_Silent_p.A752A|LLGL2_ENST00000167462.5_Silent_p.A752A NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 752 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) TGCCTCCCGCCGAGCGGAGAA 0.682000 26 8 0 0 0.000878237 0 0 VARS 7407 broad.mit.edu 37 6 31759398 31759398 + Silent SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr6:31759398G>A ENST00000375663.3 - 8 1529 c.1089C>T c.(1087-1089)tcC>tcT p.S363S VARS_ENST00000444930.2_Silent_p.S68S NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 363 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) ATCGAGTCAGGGAGTCCTGGA 0.592000 96 180 0 0 0.000781405 0 0 TCF3 6929 broad.mit.edu 37 19 1632113 1632113 + Silent SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr19:1632113G>A ENST00000262965.5 - 5 566 c.222C>T c.(220-222)acC>acT p.T74T TCF3_ENST00000395423.3_Intron|TCF3_ENST00000344749.5_Silent_p.T74T|TCF3_ENST00000588136.1_Silent_p.T74T NM_003200.3 NP_003191.1 P15923 TFE2_HUMAN transcription factor 3 74 FDPSRTFSEGTHFTESHSSLSSSTFLGPGLG -> GGGECL AWCGPSAVHRCADVGLGMVSARTAP (in Ref. 6; CAA36297). B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCGCTGAAGGTCTAGGGGA 0.637000 T """PBX1, HLF, TFPT""" pre B-ALL 6 16 0 0 0.000157383 0 0 PROL1 58503 broad.mit.edu 37 4 71275127 71275127 + Missense_Mutation SNP C C G TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr4:71275127C>G ENST00000399575.2 + 3 256 c.82C>G c.(82-84)Cca>Gca p.P28A PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 28 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) CTCCAGAAGACCATATCTACC 0.428000 31 12 0 0 0.001512 0 0 NKTR 4820 broad.mit.edu 37 3 42679557 42679557 + Missense_Mutation SNP A A C TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr3:42679557A>C ENST00000232978.8 + 13 2549 c.2361A>C c.(2359-2361)aaA>aaC p.K787N RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 787 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) AATATGTCAAAGGTAGAGACA 0.408000 41 49 0 0 0.00195071 0 0 RGPD4 285190 broad.mit.edu 37 2 108477279 108477279 + Missense_Mutation SNP T T A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr2:108477279T>A ENST00000408999.3 + 13 1893 c.1816T>A c.(1816-1818)Tat>Aat p.Y606N RGPD4_ENST00000354986.4_Missense_Mutation_p.Y606N NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 606 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AAGTGTTCATTATTGGAAGAA 0.323000 58 81 0 0 0.000781405 0 0 LRIT2 340745 broad.mit.edu 37 10 85981769 85981769 + Silent SNP G G A TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr10:85981769G>A ENST00000372113.4 - 3 1565 c.1560C>T c.(1558-1560)tcC>tcT p.S520S LRIT2_ENST00000538192.1_Silent_p.S530S NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 520 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 GTTCTCTAAAGGAGCCATCCT 0.597000 65 25 0 0 0.000781405 0 0 SRGAP2B 647135 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 8 5 --- --- --- --- POLR2J4 84820 broad.mit.edu 37 7 44056176 44056177 + RNA DEL CT CT - TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr7:44056176_44056177delCT ENST00000427076.1 - 0 89 NR_003655.2 TCCTCCCACCCTGAGTCTAAAC 0.559 11 38 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124384892 124384893 + Frame_Shift_Ins INS - - T TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr8:124384892_124384893insT ENST00000287394.5 - 3 461_462 c.354_355insA c.(352-357)aaaagafs p.R119fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity p.E119fs*8(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CTGTGCTCTTCTTTTTTTTTAT 0.267 7 215 --- --- --- --- KRTAP10-6 386674 broad.mit.edu 37 21 46012219 46012220 + In_Frame_Ins INS - - GGGGCGCAGCAGCTG rs71199613 TCGA-ER-A19L-06A-12D-A197-08 TCGA-ER-A19L-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8d5ffe62-6dd9-4764-b0b7-5e3010eefe6d 338df758-f109-4331-8d51-b3ee0eab4229 g.chr21:46012219_46012220insGGGGCGCAGCAGCTG ENST00000400368.1 - 1 166_167 c.146_147insCAGCTGCTGCGCCCC c.(145-147)cgc>cCAGCTGCTGCGCCCCgc p.48_49insPAAAP TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 48 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGCAGGGGGCCGGGGCGCAGCA 0.688 9 51 --- --- --- ---