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 OR13F1 138805 broad.mit.edu 37 9 107267390 107267390 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr9:107267390C>A ENST00000334726.2 + 1 936 c.847C>A c.(847-849)Ccc>Acc p.P283T NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CGGACAAACCCCCATGTTGAA 0.418000 24 49 9.57634e-11 1.25374e-10 1 1 0 COL18A1 80781 broad.mit.edu 37 21 46896293 46896293 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr21:46896293C>T ENST00000359759.4 + 5 2093 c.2072C>T c.(2071-2073)gCg>gTg p.A691V COL18A1_ENST00000355480.5_Missense_Mutation_p.A456V|COL18A1_ENST00000400337.2_Missense_Mutation_p.A276V P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 691 Nonhelical region 1 (NC1). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) AGGCTCCCCGCGCCACCCCCC 0.637000 9 27 0 0 1 0 0 BTNL2 56244 broad.mit.edu 37 6 32374895 32374895 + Silent SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr6:32374895C>T ENST00000454136.3 - 1 10 c.6G>A c.(4-6)gtG>gtA p.V2V BTNL2_ENST00000374993.1_Silent_p.V2V|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000374995.3_Silent_p.V2V|BTNL2_ENST00000540315.1_Silent_p.V2V|BTNL2_ENST00000429232.2_Silent_p.V2V|BTNL2_ENST00000414363.1_Silent_p.V2V Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 2 integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 CTGGAAAATCCACCATCCTCC 0.507000 27 58 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158619707 158619707 + Missense_Mutation SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:158619707T>A ENST00000368148.3 - 25 3688 c.3508A>T c.(3508-3510)Agg>Tgg p.R1170W SPTA1_ENST00000368147.3_Missense_Mutation_p.R1170W NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1170 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTGCAAGCCTCTGCAAAGAA 0.458000 11 36 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205308439 205308439 + Missense_Mutation SNP A A C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:205308439A>C ENST00000367156.3 - 7 1456 c.640T>G c.(640-642)Ttc>Gtc p.F214V KLHDC8A_ENST00000539253.1_Missense_Mutation_p.F214V|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.F80V|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.F214V|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.F101V NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 214 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) AAGCTGGAGAAGGCCCGCTTA 0.582000 11 41 0 0 1 0 0 ZNF431 170959 broad.mit.edu 37 19 21365588 21365588 + Missense_Mutation SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr19:21365588A>G ENST00000311048.7 + 5 626 c.482A>G c.(481-483)tAt>tGt p.Y161C ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 AAAGAAGGTTATAATGAGCTA 0.328000 14 47 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220164773 220164773 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:220164773G>C ENST00000295718.2 - 9 1610 c.1370C>G c.(1369-1371)aCg>aGg p.T457R AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.T367R|PTPRN_ENST00000409251.3_Missense_Mutation_p.T457R NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 457 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TCCTGCCACCGTGGGCTGGCT 0.602000 21 68 0 0 1 0 0 DAK 26007 broad.mit.edu 37 11 61109956 61109956 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr11:61109956C>T ENST00000394900.3 + 8 908 c.679C>T c.(679-681)Cgc>Tgc p.R227C NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 227 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 AGCTGGTGTGCGCCGGATAAA 0.592000 19 88 0 0 1 0 0 ZNF471 57573 broad.mit.edu 37 19 57037191 57037191 + Silent SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr19:57037191C>T ENST00000308031.5 + 5 1888 c.1755C>T c.(1753-1755)tcC>tcT p.S585S ZNF471_ENST00000593197.1_3'UTR|ZNF471_ENST00000591537.1_3'UTR NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 585 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) ATAGCTCATCCTGTGCTCAGC 0.403000 4 83 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197397003 197397003 + Missense_Mutation SNP G G A rs62636270 TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:197397003G>A ENST00000367397.1 + 3 1549 c.691G>A c.(691-693)Ggc>Agc p.G231S CRB1_ENST00000544212.1_Missense_Mutation_p.G331S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.G738S|CRB1_ENST00000367400.3_Missense_Mutation_p.G850S|CRB1_ENST00000535699.1_Missense_Mutation_p.G781S P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 850 EGF-like 6; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ATTCTTCAAAGGCTGTATCCA 0.393000 17 65 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47044523 47044523 + Nonsense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chrX:47044523C>T ENST00000377604.3 + 18 2762 c.2020C>T c.(2020-2022)Cag>Tag p.Q674* RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q597*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q596*|RBM10_ENST00000468791.1_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 674 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 AAATAGCTTCCAGCCTATCAG 0.567000 19 14 0 0 1 0 0 SELENBP1 8991 broad.mit.edu 37 1 151341499 151341499 + Missense_Mutation SNP C C A rs150747769 by1000genomes TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:151341499C>A ENST00000435071.1 - 4 611 c.149G>T c.(148-150)cGg>cTg p.R50L SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000368868.5_Missense_Mutation_p.R114L|SELENBP1_ENST00000447402.3_Intron|SELENBP1_ENST00000426705.2_Missense_Mutation_p.R156L Q13228 SBP1_HUMAN selenium binding protein 1 114 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTTTGGGGCCCGGGGCTCAGA 0.607000 16 76 6.31663e-08 7.75931e-08 1 1 0 KCNQ2 3785 broad.mit.edu 37 20 62071028 62071028 + Missense_Mutation SNP A A C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr20:62071028A>C ENST00000354587.3 - 6 1026 c.850T>G c.(850-852)Tac>Gac p.Y284D KCNQ2_ENST00000360480.3_Missense_Mutation_p.Y284D|KCNQ2_ENST00000370226.1_Missense_Mutation_p.Y284D|KCNQ2_ENST00000370224.1_Missense_Mutation_p.Y284D|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Y284D|KCNQ2_ENST00000359689.1_Missense_Mutation_p.Y284D|KCNQ2_ENST00000430658.1_Missense_Mutation_p.Y284D|KCNQ2_ENST00000370222.3_Missense_Mutation_p.Y284D|KCNQ2_ENST00000344425.5_Missense_Mutation_p.Y284D|KCNQ2_ENST00000359125.2_Missense_Mutation_p.Y284D|KCNQ2_ENST00000370221.1_Missense_Mutation_p.Y284D|KCNQ2_ENST00000344462.3_Missense_Mutation_p.Y284D O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 284 Y -> C (in EBN1; 30%-60% reduction of wt heteromeric current. Ratio 1:1 or 20%- 30%; ratio of 1:1:2; dbSNP:rs28939683). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GTCTGGGGGTACTTGTCCCCG 0.642000 14 61 0 0 1 0 0 ACTN1 87 broad.mit.edu 37 14 69376758 69376758 + Splice_Site SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr14:69376758C>G ENST00000193403.6 - 5 812 c.427_splice c.e5-1 p.E143_splice ACTN1_ENST00000376839.3_Splice_Site_p.E78_splice|ACTN1_ENST00000438964.2_Splice_Site_p.E143_splice|ACTN1_ENST00000394419.4_Splice_Site_p.E143_splice|ACTN1_ENST00000538545.2_Splice_Site_p.E143_splice|ACTN1_ENST00000554508.1_5'UTR NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 143 Actin-binding. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TGGCTGAAGTCTCTATGGGGA 0.572000 16 17 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48718047 48718047 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr15:48718047T>C ENST00000316623.5 - 59 7674 c.7219A>G c.(7219-7221)Aag>Gag p.K2407E NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2407 EGF-like 41; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TGAATAACCTTGCATTCATCG 0.328000 18 37 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 73 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22847904 22847904 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr19:22847904A>T ENST00000456783.2 + 4 1677 c.1433A>T c.(1432-1434)aAg>aTg p.K478M NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 478 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) AAACCCTACAAGTGTGAAGAA 0.388000 13 31 0 0 1 0 0 OMG 4974 broad.mit.edu 37 17 29622866 29622866 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr17:29622866G>T ENST00000247271.4 - 2 745 c.484C>A c.(484-486)Cca>Aca p.P162T NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron NM_002544.4 NP_002535.3 P23515 OMGP_HUMAN oligodendrocyte myelin glycoprotein 162 cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|plasma membrane p.0?(8)|p.?(3) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1) 13 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121) ATGTTGGTTGGAACTGTCCAA 0.383000 42 115 6.33695e-27 1.02525e-26 1 1 0 SMG1 23049 broad.mit.edu 37 16 18826847 18826847 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr16:18826847T>C ENST00000446231.2 - 59 10841 c.10429A>G c.(10429-10431)Atg>Gtg p.M3477V SMG1_ENST00000389467.3_Missense_Mutation_p.M3478V Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 3477 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ACCTGACCCATAGCCTGGACT 0.403000 28 67 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84234289 84234289 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr6:84234289G>T ENST00000536636.1 + 3 1474 c.1129G>T c.(1129-1131)Gat>Tat p.D377Y PRSS35_ENST00000369700.3_Missense_Mutation_p.D377Y NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 377 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) CCAGTGGGTGGATGTCCACGG 0.527000 9 37 0.0581538 0.0596526 1 1 0 RAB3IP 117177 broad.mit.edu 37 12 70178569 70178569 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr12:70178569G>A ENST00000550536.1 + 4 1085 c.628G>A c.(628-630)Gaa>Aaa p.E210K RAB3IP_ENST00000551641.1_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.E194K|RAB3IP_ENST00000247833.7_Missense_Mutation_p.E194K|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000362025.5_Missense_Mutation_p.E210K|RAB3IP_ENST00000378815.6_Missense_Mutation_p.E194K|RAB3IP_ENST00000553099.1_5'UTR NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 210 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) ACAGGAATTGGAAGAACTCAC 0.343000 18 69 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60642986 60642986 + Splice_Site SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr11:60642986G>C ENST00000278853.5 + 12 1774 c.e12-1 NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CTCTCTGACAGACTCCAATGG 0.592000 8 23 0 0 1 0 0 SRPX 8406 broad.mit.edu 37 X 38024106 38024106 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chrX:38024106C>A ENST00000378533.3 - 5 675 c.569G>T c.(568-570)cGc>cTc p.R190L SRPX_ENST00000544439.1_Missense_Mutation_p.R170L|SRPX_ENST00000343800.6_Missense_Mutation_p.R177L|SRPX_ENST00000432886.2_Missense_Mutation_p.R131L|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Missense_Mutation_p.R190L NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 190 HYR. cell adhesion cell surface|membrane p.R190H(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 TTCTGCAATGCGTTCCTTCAC 0.443000 11 10 3.07112e-06 3.57399e-06 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168107682 168107682 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:168107682G>T ENST00000409195.1 + 9 9869 c.9780G>T c.(9778-9780)gaG>gaT p.E3260D XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3038D|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3260D NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3085 actin cytoskeleton organization cell junction actin binding p.E3260E(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACGCTCAAGAGGAAATCAGGA 0.423000 22 57 3.5997e-14 5.08043e-14 1 1 0 WFIKKN2 124857 broad.mit.edu 37 17 48917306 48917306 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr17:48917306G>C ENST00000311378.4 + 2 1185 c.657G>C c.(655-657)caG>caC p.Q219H WFIKKN2_ENST00000426127.1_Missense_Mutation_p.Q126H NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 219 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CTGTGCACCAGTCGGTCACCA 0.642000 13 48 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30034020 30034020 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr11:30034020C>A ENST00000328224.6 - 2 1439 c.206G>T c.(205-207)gGg>gTg p.G69V NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 69 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 GGTACAGGCCCCGCGTGACTG 0.657000 20 49 8.10497e-08 9.89503e-08 1 1 0 FLNC 2318 broad.mit.edu 37 7 128484144 128484144 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr7:128484144C>A ENST00000325888.8 + 20 3277 c.3016C>A c.(3016-3018)Ccc>Acc p.P1006T FLNC_ENST00000346177.6_Missense_Mutation_p.P1006T NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1006 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GATGACTTCGCCCTCTCGCCG 0.662000 15 30 4.7546e-09 5.95073e-09 1 1 0 ATP8B1 5205 broad.mit.edu 37 18 55359055 55359055 + Missense_Mutation SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr18:55359055T>A ENST00000536015.1 - 12 1323 c.1204A>T c.(1204-1206)Atc>Ttc p.I402F RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.I402F NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 402 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) TAGAGAGAGATGGGTACCATG 0.443000 16 42 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18300821 18300821 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr22:18300821C>A ENST00000441493.2 - 26 4958 c.4606G>T c.(4606-4608)Gac>Tac p.D1536Y NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1536 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) AGGCTTGAGTCCTCAGTCTTG 0.627000 8 22 0.00307968 0.00324263 1 1 0 FLG 2312 broad.mit.edu 37 1 152281717 152281717 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:152281717C>T ENST00000368799.1 - 3 5680 c.5645G>A c.(5644-5646)gGg>gAg p.G1882E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1882 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGACGCGACCCTGAGTGCCT 0.577000 Ichthyosis 98 457 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038981 11038981 + RNA SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr21:11038981T>C ENST00000470054.1 - 0 1222 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) ATGATAACTTTATAGATTTGC 0.408000 27 451 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100567717 100567717 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr3:100567717G>T ENST00000471714.1 - 18 1634 c.1525C>A c.(1525-1527)Ccc>Acc p.P509T ABI3BP_ENST00000495063.1_Missense_Mutation_p.P509T|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P460T Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 460 Pro-rich. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GTTTGCTGGGGAGCTGAAAGA 0.403000 12 46 3.07112e-06 3.57399e-06 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803427 142803427 + RNA SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:142803427C>G ENST00000423385.1 - 0 1538 ctcatcctctcaagtagtttg 0.343000 4 17 0 0 1 0 0 ARPC1B 10095 broad.mit.edu 37 7 98987630 98987630 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr7:98987630G>C ENST00000451682.1 + 7 804 c.495G>C c.(493-495)aaG>aaC p.K165N ARPC1B_ENST00000252725.5_Missense_Mutation_p.K165N O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 165 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GTGACTTCAAGTGTCGGTGAG 0.622000 37 80 0 0 1 0 0 C15orf41 84529 broad.mit.edu 37 15 37100595 37100595 + Missense_Mutation SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr15:37100595A>G ENST00000566621.1 + 11 1037 c.787A>G c.(787-789)Atc>Gtc p.I263V C15orf41_ENST00000569302.1_Missense_Mutation_p.I269V|C15orf41_ENST00000562489.1_Missense_Mutation_p.I87V|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000567389.1_Missense_Mutation_p.I165V|C15orf41_ENST00000562877.1_Missense_Mutation_p.I165V|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000563167.1_Missense_Mutation_p.H25R|C15orf41_ENST00000338183.4_Missense_Mutation_p.I165V|C15orf41_ENST00000437989.2_Missense_Mutation_p.I263V NM_001130010.1 NP_001123482.1 Q9Y2V0 CO041_HUMAN chromosome 15 open reading frame 41 263 protein binding kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) GGAAAGGGGCATCCTGCTCAA 0.478000 11 38 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873486 91873486 + Silent SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chrX:91873486C>T ENST00000373094.1 + 7 4436 c.3591C>T c.(3589-3591)caC>caT p.H1197H PCDH11X_ENST00000373097.1_Silent_p.H1187H|PCDH11X_ENST00000298274.8_Silent_p.H1160H|PCDH11X_ENST00000373088.1_Silent_p.H1160H|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000406881.1_Silent_p.H1189H|PCDH11X_ENST00000361655.2_Silent_p.H1179H NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1197 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTCTCTGCCACAGCCCTCCAG 0.597000 8 87 0 0 1 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628630 51628630 + Silent SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr19:51628630C>T ENST00000440804.3 + 1 466 c.399C>T c.(397-399)caC>caT p.H133H SIGLEC9_ENST00000250360.3_Silent_p.H133H NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 133 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ATAAACATCACCGGCTCTCTG 0.517000 14 43 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100806591 100806591 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr12:100806591G>A ENST00000323346.5 + 10 1543 c.1230G>A c.(1228-1230)tcG>tcA p.S410S SLC17A8_ENST00000392989.3_Silent_p.S360S|SLC17A8_ENST00000552697.1_3'UTR NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 410 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TTGGCTTTTCGCATACCAAAG 0.448000 31 116 0 0 1 0 0 LOC93432 93432 broad.mit.edu 37 7 141896544 141896544 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr7:141896544G>C ENST00000477922.3 + 40 4614 c.4560G>C c.(4558-4560)gaG>gaC p.E1520D endometrium(1)|lung(5) 6 CTGAATATGAGATGTGTGTTC 0.483000 8 21 0 0 1 0 0 TEX11 56159 broad.mit.edu 37 X 70127661 70127661 + Splice_Site SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chrX:70127661C>A ENST00000395889.2 - 2 58 c.e2-1 TEX11_ENST00000374333.2_Splice_Site NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TGGCTCAAGCCTGTGAAATAA 0.338000 13 13 0.00010058 0.000111197 1 1 0 KMT2A 4297 broad.mit.edu 37 11 118339515 118339515 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr11:118339515C>T ENST00000534358.1 + 2 481 c.458C>T c.(457-459)tCa>tTa p.S153L KMT2A_ENST00000389506.5_Missense_Mutation_p.S153L|KMT2A_ENST00000354520.4_Missense_Mutation_p.S153L NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GGTTTTGGCTCAGATGAAGAA 0.403000 22 51 0 0 1 0 0 GID4 79018 broad.mit.edu 37 17 17948473 17948473 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr17:17948473G>T ENST00000268719.4 + 2 624 c.451G>T c.(451-453)Ggg>Tgg p.G151W GID4_ENST00000376345.3_Missense_Mutation_p.G151W NM_024052.4 NP_076957.3 GID complex subunit 4 CGTGGACACGGGGAACTCTTA 0.473000 18 36 1.01871e-10 1.31639e-10 1 1 0 BCL11A 53335 broad.mit.edu 37 2 60689148 60689148 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:60689148A>T ENST00000335712.6 - 4 1126 c.899T>A c.(898-900)gTg>gAg p.V300E BCL11A_ENST00000358510.4_Missense_Mutation_p.V266E|BCL11A_ENST00000356842.4_Missense_Mutation_p.V300E|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.V266E NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 300 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CAACCGCAGCACCCTGTCAAA 0.612000 T IGH@ B-CLL 22 64 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84530312 84530312 + RNA SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr9:84530312G>A ENST00000527857.1 + 0 334 NR_026851.1 TGCAGCTTTGGACCTCCTGCT 0.577000 4 11 0 0 1 0 0 BPIFA3 128861 broad.mit.edu 37 20 31811753 31811753 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr20:31811753G>A ENST00000375454.3 + 2 474 c.264G>A c.(262-264)caG>caA p.Q88Q BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.Q88Q NM_178466.3 NP_848561.2 Q9BQP9 SPLC3_HUMAN BPI fold containing family A, member 3 88 Poly-Gln. extracellular region lipid binding AACACCAGCAGCAGCAAGAGA 0.572000 4 68 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241420440 241420440 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:241420440T>C ENST00000391987.1 - 17 3059 c.2693A>G c.(2692-2694)tAc>tGc p.Y898C ANKMY1_ENST00000401804.1_Missense_Mutation_p.Y987C|ANKMY1_ENST00000373318.2_Missense_Mutation_p.Y677C|ANKMY1_ENST00000373320.4_Missense_Mutation_p.Y668C|ANKMY1_ENST00000361678.4_Missense_Mutation_p.Y674C|ANKMY1_ENST00000272972.3_Missense_Mutation_p.Y898C|ANKMY1_ENST00000406958.1_Missense_Mutation_p.Y659C|ANKMY1_ENST00000403283.1_Missense_Mutation_p.Y800C Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 898 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) CAGGATCCCGTAGCAGCGAGG 0.617000 16 63 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17156057 17156057 + Silent SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr10:17156057T>C ENST00000377833.4 - 8 917 c.852A>G c.(850-852)caA>caG p.Q284Q NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 284 EGF-like 3; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGAAAGAGCCTTGAGTGTTGA 0.562000 4 16 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308583 248308583 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:248308583T>C ENST00000366476.1 + 1 134 c.134T>C c.(133-135)aTg>aCg p.M45T NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) AACTCTGTCATGGTTCTCCTC 0.522000 183 230 0 0 1 0 0 IGKV6D-41 28869 broad.mit.edu 37 2 90108542 90108542 + RNA SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:90108542T>C ENST00000390271.2 + 0 39 GGTGTCCCCGTTGCAATTCCT 0.408000 17 57 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100340069 100340069 + RNA SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr15:100340069C>A ENST00000341853.1 - 0 857 NR_003260.1 TCCGCCGACTCCTGCAGGAGT 0.602000 7 11 0.27861 0.282875 1 1 0 PDGFRB 5159 broad.mit.edu 37 5 149515374 149515374 + Silent SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr5:149515374T>A ENST00000261799.4 - 3 577 c.108A>T c.(106-108)acA>acT p.T36T NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 36 Ig-like C2-type 1. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCCCCGGGGGTGTGACGACCA 0.592000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 12 39 0 0 1 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795332 142795332 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chrX:142795332C>A ENST00000370498.1 - 2 1099 c.346G>T c.(346-348)Gac>Tac p.D116Y NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 116 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TCAGATGAGTCCAGGTCTTCG 0.517000 10 181 1.55795e-14 2.23044e-14 1 1 0 PCDHGA5 56110 broad.mit.edu 37 5 140746158 140746158 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr5:140746158C>A ENST00000518069.1 + 1 2261 c.2261C>A c.(2260-2262)tCc>tAc p.S754Y PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGACCTATTCCCACGAGGTC 0.597000 50 187 5.57489e-27 9.09347e-27 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168107683 168107683 + Nonsense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:168107683G>T ENST00000409195.1 + 9 9870 c.9781G>T c.(9781-9783)Gaa>Taa p.E3261* XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E3039*|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E3261* NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3086 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CGCTCAAGAGGAAATCAGGAA 0.423000 22 57 3.5997e-14 5.08043e-14 1 1 0 EEF2 1938 broad.mit.edu 37 19 3982008 3982008 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr19:3982008G>T ENST00000309311.6 - 6 922 c.834C>A c.(832-834)acC>acA p.T278T NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 278 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) CTTCGGGGCTGGTGGCTGACT 0.607000 27 82 4.40665e-25 7.01538e-25 1 1 0 ZNF211 10520 broad.mit.edu 37 19 58152547 58152547 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr19:58152547G>T ENST00000544273.1 + 5 1056 c.729G>T c.(727-729)tgG>tgT p.W243C ZNF211_ENST00000299871.5_Missense_Mutation_p.W296C|ZNF211_ENST00000541801.1_Missense_Mutation_p.W222C|ZNF211_ENST00000420680.1_Missense_Mutation_p.W235C|ZNF211_ENST00000240731.4_Missense_Mutation_p.W244C|ZNF211_ENST00000391703.3_Missense_Mutation_p.W170C|ZNF211_ENST00000254182.7_Missense_Mutation_p.W222C|ZNF211_ENST00000347302.3_Missense_Mutation_p.W231C Q13398 ZN211_HUMAN zinc finger protein 211 231 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCACAACTGGGGAAAATGCA 0.448000 31 85 1.30897e-18 1.97337e-18 1 1 0 OR2L2 26246 broad.mit.edu 37 1 248201637 248201637 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:248201637G>T ENST00000366479.2 + 1 164 c.68G>T c.(67-69)gGc>gTc p.G23V OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCAAGAATTGGCCTTTTCGTA 0.388000 45 185 9.84934e-19 1.50771e-18 1 1 0 ATP6V1C2 245973 broad.mit.edu 37 2 10922461 10922461 + Missense_Mutation SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:10922461T>A ENST00000381661.3 + 12 1125 c.1016T>A c.(1015-1017)tTc>tAc p.F339Y ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.F385Y NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 385 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) AACTCTGTCTTCCGACATCTG 0.443000 15 56 0 0 1 0 0 FAIM2 23017 broad.mit.edu 37 12 50264295 50264295 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr12:50264295G>C ENST00000320634.3 - 12 1037 c.943C>G c.(943-945)Cga>Gga p.R315G FAIM2_ENST00000550890.1_Missense_Mutation_p.R269G NM_012306.3 NP_036438.2 Q9BWQ8 FAIM2_HUMAN Fas apoptotic inhibitory molecule 2 315 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2) 14 CCTCATTCTCGGTTAGTGCCA 0.537000 25 64 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23900847 23900847 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr14:23900847G>C ENST00000355349.3 - 8 841 c.679C>G c.(679-681)Ctg>Gtg p.L227V NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 227 Myosin head-like. L -> V (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AAGGCCTCCAGAGCAGGGTTG 0.607000 34 124 0 0 1 0 0 SYT8 90019 broad.mit.edu 37 11 1857243 1857243 + Missense_Mutation SNP G G A rs907608 by1000genomes TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr11:1857243G>A ENST00000535046.1 + 4 842 c.842G>A c.(841-843)cGg>cAg p.R281Q SYT8_ENST00000381968.3_Intron|SYT8_ENST00000341958.3_Intron|SYT8_ENST00000436964.2_Missense_Mutation_p.R129Q|SYT8_ENST00000483280.1_3'UTR Q8NBV8 SYT8_HUMAN synaptotagmin VIII 0 C2 2. acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CAGGACCAGCGGTTCTGCGAG 0.682000 3 46 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54848227 54848227 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr19:54848227G>T ENST00000291759.4 - 6 1196 c.1140C>A c.(1138-1140)ttC>ttA p.F380L AC008984.2_ENST00000507363.1_RNA NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 380 Ig-like C2-type 4. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GACTCATGGGGAATTCAGCCT 0.607000 47 141 5.2432e-18 7.78655e-18 1 1 0 TDRKH 11022 broad.mit.edu 37 1 151755442 151755442 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:151755442C>A ENST00000368822.1 - 2 690 c.57G>T c.(55-57)ctG>ctT p.L19L TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000458431.2_Silent_p.L19L|TDRKH_ENST00000368827.6_Silent_p.L19L|TDRKH_ENST00000368824.3_Silent_p.L19L|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368823.1_Silent_p.L19L|TDRKH_ENST00000368825.3_Silent_p.L19L Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 19 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCCCAAGGCCCAGGGCTATTT 0.463000 39 130 6.57855e-14 9.15476e-14 1 1 0 PLEKHM1P 440456 broad.mit.edu 37 17 62820941 62820941 + RNA SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr17:62820941T>A ENST00000582986.1 - 0 188 NR_024386.1 CAGGGACACGTACTGCTTTTG 0.532000 20 38 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73812447 73812447 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chrX:73812447T>C ENST00000332687.6 - 4 921 c.703A>G c.(703-705)Atg>Gtg p.M235V RLIM_ENST00000349225.2_Missense_Mutation_p.M235V NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 235 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATTTCACTCATTGGATGCAGA 0.498000 36 17 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8484343 8484343 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr9:8484343C>A ENST00000381196.4 - 27 3732 c.3189G>T c.(3187-3189)gtG>gtT p.V1063V PTPRD_ENST00000397611.3_Silent_p.V649V|PTPRD_ENST00000355233.5_Silent_p.V652V|PTPRD_ENST00000486161.1_Silent_p.V652V|PTPRD_ENST00000397617.3_Silent_p.V642V|PTPRD_ENST00000356435.5_Silent_p.V1063V|PTPRD_ENST00000540109.1_Silent_p.V1063V|PTPRD_ENST00000537002.1_Silent_p.V649V|PTPRD_ENST00000360074.4_Silent_p.V1050V|PTPRD_ENST00000397606.3_Silent_p.V642V|PTPRD_ENST00000358503.5_Silent_p.V1041V NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1063 Fibronectin type-III 8. 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) CTCGGCCATCCACTTCTTCTA 0.378000 TSP Lung(15;0.13) 11 29 3.86212e-05 4.36683e-05 1 1 0 CDC27 996 broad.mit.edu 37 17 45219283 45219283 + Missense_Mutation SNP T T C rs76995821 TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr17:45219283T>C ENST00000066544.3 - 12 1580 c.1487A>G c.(1486-1488)tAc>tGc p.Y496C CDC27_ENST00000527547.1_Missense_Mutation_p.Y495C|CDC27_ENST00000446365.2_Missense_Mutation_p.Y435C|CDC27_ENST00000531206.1_Missense_Mutation_p.Y502C NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 496 Y -> H (in dbSNP:rs13666). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 ACCAGTATTGTAGTGGTGAGA 0.373000 46 127 0 0 1 0 0 MAPK13 5603 broad.mit.edu 37 6 36104692 36104692 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr6:36104692T>C ENST00000211287.4 + 8 909 c.647T>C c.(646-648)aTg>aCg p.M216T MAPK13_ENST00000373766.5_Intron|MAPK13_ENST00000373761.6_Missense_Mutation_p.M206T|MAPK13_ENST00000373759.1_Intron NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 216 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 ATGGCAGAGATGCTGACAGGG 0.507000 22 60 0 0 1 0 0 EVX2 344191 broad.mit.edu 37 2 176948244 176948244 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:176948244G>T ENST00000308618.4 - 1 397 c.261C>A c.(259-261)acC>acA p.T87T NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 87 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CGGAGGAGACGGTGCTTTCGC 0.627000 13 41 6.72482e-11 8.9216e-11 1 1 0 PPARA 5465 broad.mit.edu 37 22 46627756 46627756 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr22:46627756C>T ENST00000396000.2 + 7 1044 c.779C>T c.(778-780)gCc>gTc p.A260V PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Missense_Mutation_p.A260V|PPARA_ENST00000407236.1_Missense_Mutation_p.A260V|PPARA_ENST00000402126.1_Missense_Mutation_p.A260V Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 260 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) AAGCTGGTGGCCAATGGCATC 0.552000 8 27 0 0 1 0 0 CHST14 113189 broad.mit.edu 37 15 40764364 40764364 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr15:40764364C>T ENST00000306243.5 + 1 1205 c.952C>T c.(952-954)Cac>Tac p.H318Y CHST14_ENST00000559991.1_Missense_Mutation_p.H293Y NM_130468.3 NP_569735.1 Q8NCH0 CHSTE_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 318 carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding cervix(1)|large_intestine(1)|prostate(2) 4 all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781) GGCACCACCTCACGTCCGATT 0.627000 22 59 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902282 40902282 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr19:40902282G>A ENST00000324001.7 - 7 2247 c.1977C>T c.(1975-1977)ctC>ctT p.L659L PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 659 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGACTTTCGGGAGCTGCACTT 0.562000 6 177 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296223 20296223 + Missense_Mutation SNP A A G rs79084933 TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr14:20296223A>G ENST00000315947.1 + 1 616 c.616A>G c.(616-618)Atg>Gtg p.M206V OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CAGTGGCCTGATGACACTCCT 0.522000 36 161 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227896701 227896701 + Silent SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:227896701T>A ENST00000396625.3 - 40 3984 c.3777A>T c.(3775-3777)ccA>ccT p.P1259P COL4A4_ENST00000329662.7_Silent_p.P1259P NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1259 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GATCTCCAGGTGGACCCGGGT 0.537000 9 25 0 0 1 0 0 CRISP3 10321 broad.mit.edu 37 6 49704130 49704130 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr6:49704130G>T ENST00000433368.2 - 3 301 c.232C>A c.(232-234)Ccc>Acc p.P78T CRISP3_ENST00000393666.1_Missense_Mutation_p.P55T|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000371159.4_Missense_Mutation_p.P86T|CRISP3_ENST00000263045.4_Missense_Mutation_p.P68T NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 55 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CTGGCAGGGGGAGATACTGCT 0.468000 50 117 2.81731e-22 4.34608e-22 1 1 0 NBEA 26960 broad.mit.edu 37 13 36167537 36167537 + Translation_Start_Site SNP G G A rs116439886 by1000genomes TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr13:36167537G>A ENST00000379922.3 + 0 395 NBEA_ENST00000379939.2_Missense_Mutation_p.V2414I|NBEA_ENST00000537702.1_Missense_Mutation_p.V210I|NBEA_ENST00000540320.1_Missense_Mutation_p.V2417I|NBEA_ENST00000400445.3_Missense_Mutation_p.V2417I|NBEA_ENST00000310336.4_Missense_Mutation_p.V2417I Q8NFP9 NBEA_HUMAN neurobeachin cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTTCTCATCCGTTGCAAGGTC 0.338000 17 67 0 0 1 0 0 IGHV1-2 28474 broad.mit.edu 37 14 106452746 106452746 + RNA SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr14:106452746G>T ENST00000390594.2 - 0 339 TGATGGACGTGTCCCTGGTCA 0.547000 60 98 1.73933e-33 2.93327e-33 1 1 0 H2AFY 9555 broad.mit.edu 37 5 134679002 134679002 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr5:134679002C>A ENST00000511689.1 - 8 1494 c.901G>T c.(901-903)Gct>Tct p.A301S CTC-203F4.1_ENST00000432382.3_Missense_Mutation_p.A95D|H2AFY_ENST00000510038.1_Missense_Mutation_p.A301S|H2AFY_ENST00000312469.4_Missense_Mutation_p.A298S|H2AFY_ENST00000423969.2_Missense_Mutation_p.A129S|H2AFY_ENST00000512507.1_5'UTR|CTC-203F4.1_ENST00000555438.1_Intron|H2AFY_ENST00000304332.4_Missense_Mutation_p.A300S NM_001040158.1|NM_138610.2 NP_001035248.1|NP_613258.2 O75367 H2AY_HUMAN H2A histone family, member Y 301 Macro. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTATCATCAGCCAGGGCCAAG 0.498000 70 89 5.45122e-27 8.96524e-27 1 1 0 NNT 23530 broad.mit.edu 37 5 43616166 43616166 + Splice_Site SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr5:43616166G>T ENST00000264663.5 + 4 819 c.599_splice c.e4+1 p.G200_splice NNT_ENST00000344920.4_Splice_Site_p.G200_splice|NNT_ENST00000512996.2_Splice_Site_p.G69_splice NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 200 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) CAACATTGCGGGGTAGGTTCT 0.413000 27 72 4.87955e-14 6.83825e-14 1 1 0 PRUNE2 158471 broad.mit.edu 37 9 79325166 79325166 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr9:79325166T>C ENST00000428286.1 - 8 2147 c.947A>G c.(946-948)gAa>gGa p.E316G PRUNE2_ENST00000376718.3_Missense_Mutation_p.E675G Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 675 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGATTCCTGTTCACTGGAACT 0.498000 15 42 0 0 1 0 0 OR5R1 219479 broad.mit.edu 37 11 56185334 56185334 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr11:56185334G>T ENST00000312253.1 - 1 374 c.375C>A c.(373-375)gcC>gcA p.A125A NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GACTACAGATGGCGACATAGC 0.468000 15 74 2.32078e-09 2.92301e-09 1 1 0 VAV1 7409 broad.mit.edu 37 19 6772930 6772930 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr19:6772930C>A ENST00000304076.2 + 1 206 c.112C>A c.(112-114)Cgg>Agg p.R38R VAV1_ENST00000602142.1_Silent_p.R38R|VAV1_ENST00000596764.1_Silent_p.R38R NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 38 CH.|Leu-rich. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CCAGGCCCTCCGGGATGGTGT 0.652000 19 70 4.96729e-08 6.13969e-08 1 1 0 ZNF804A 91752 broad.mit.edu 37 2 185801843 185801843 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:185801843G>T ENST00000302277.6 + 4 2314 c.1720G>T c.(1720-1722)Gat>Tat p.D574Y NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 574 intracellular zinc ion binding p.D574Y(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GGACACTCTAGATGAAAAATA 0.299000 15 45 3.41278e-10 4.38157e-10 1 1 0 HKDC1 80201 broad.mit.edu 37 10 71026381 71026381 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr10:71026381G>T ENST00000354624.5 + 18 2755 c.2622G>T c.(2620-2622)ttG>ttT p.L874F RP11-227H15.5_ENST00000413220.1_RNA NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 874 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CTAGAATATTGCAGGAAACTG 0.403000 25 88 7.01153e-11 9.24037e-11 1 1 0 FAT2 2196 broad.mit.edu 37 5 150947209 150947209 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr5:150947209G>A ENST00000261800.5 - 1 1296 c.1284C>T c.(1282-1284)caC>caT p.H428H NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 428 Cadherin 3. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTAGCTGATAGTGGGCTCTGT 0.498000 39 124 0 0 1 0 0 OAS1 4938 broad.mit.edu 37 12 113357335 113357335 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr12:113357335G>A ENST00000202917.5 + 6 1443 c.1180G>A c.(1180-1182)Gac>Aac p.D394N OAS1_ENST00000551241.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.G361E NM_016816.2 NP_058132.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 394 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 GGCAGAAGAGGACTGGACCTG 0.507000 14 69 0 0 1 0 0 TEX35 84066 broad.mit.edu 37 1 178485002 178485002 + Silent SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:178485002C>G ENST00000367641.3 + 4 227 c.168C>G c.(166-168)ctC>ctG p.L56L TEX35_ENST00000367642.3_Intron|TEX35_ENST00000367643.3_Silent_p.L56L|TEX35_ENST00000319416.2_Silent_p.L56L|TEX35_ENST00000258298.2_5'UTR|TEX35_ENST00000367639.1_Silent_p.L64L testis expressed 35 AGAATGAACTCAGGGAAGTGA 0.433000 12 24 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42063167 42063167 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr7:42063167T>C ENST00000395925.3 - 10 1481 c.1397A>G c.(1396-1398)gAc>gGc p.D466G GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 466 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TTCATCTTTGTCCCCTTCCTC 0.542000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 15 68 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604499 140604499 + Missense_Mutation SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr5:140604499C>G ENST00000239449.4 + 1 1422 c.1422C>G c.(1420-1422)agC>agG p.S474R PCDHB14_ENST00000515856.2_Missense_Mutation_p.S321R NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 474 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGCGTCAGCGCCACAGACA 0.637000 99 194 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936874 4936874 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr11:4936874C>A ENST00000322013.3 - 1 48 c.20G>T c.(19-21)gGa>gTa p.G7V MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTGCTGTTTCCCAGGGATCC 0.547000 18 43 5.3912e-06 6.2375e-06 1 1 0 KGFLP2 654466 broad.mit.edu 37 9 41962730 41962730 + RNA SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr9:41962730A>G ENST00000454645.1 - 0 774 NR_003670.1 TGAAGTTACAATCTTCATTGC 0.353000 4 26 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745408 37745408 + Nonsense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr9:37745408G>T ENST00000539465.1 + 16 3972 c.3379G>T c.(3379-3381)Gag>Tag p.E1127* FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.E1127*|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1127 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CGTATTTCAGGAGGAGTCTAG 0.428000 14 53 1.3612e-06 1.62203e-06 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158623075 158623075 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:158623075C>A ENST00000368148.3 - 22 3357 c.3177G>T c.(3175-3177)caG>caT p.Q1059H SPTA1_ENST00000368147.3_Missense_Mutation_p.Q1059H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1059 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GGTTCTCAATCTGCTCCTGGC 0.517000 34 160 6.04917e-29 1.00315e-28 1 1 0 ATP13A4 84239 broad.mit.edu 37 3 193210752 193210752 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr3:193210752G>T ENST00000342695.4 - 5 809 c.487C>A c.(487-489)Cat>Aat p.H163N ATP13A4_ENST00000295548.3_Missense_Mutation_p.H163N|ATP13A4_ENST00000392443.3_Missense_Mutation_p.H163N NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 163 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) AATTTTTGATGTATCTTGGCA 0.308000 7 38 8.12818e-05 9.08713e-05 1 1 0 GRB10 2887 broad.mit.edu 37 7 50694650 50694650 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr7:50694650C>T ENST00000403097.1 - 7 1292 c.512G>A c.(511-513)gGg>gAg p.G171E GRB10_ENST00000401949.1_Missense_Mutation_p.G177E|GRB10_ENST00000398812.2_Missense_Mutation_p.G177E|GRB10_ENST00000402578.1_Missense_Mutation_p.G119E|GRB10_ENST00000402497.1_Missense_Mutation_p.G119E|GRB10_ENST00000335866.3_Missense_Mutation_p.G119E|GRB10_ENST00000407526.1_Missense_Mutation_p.G119E|GRB10_ENST00000406641.1_Missense_Mutation_p.G119E|GRB10_ENST00000398810.2_Missense_Mutation_p.G119E|GRB10_ENST00000439599.1_Missense_Mutation_p.G171E|GRB10_ENST00000357271.5_Missense_Mutation_p.G177E Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 177 Ras-associating. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) TTTGCTTGTCCCATCTTCACT 0.413000 Russell-Silver syndrome 60 181 0 0 1 0 0 USP47 55031 broad.mit.edu 37 11 11964407 11964407 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr11:11964407A>T ENST00000339865.5 + 19 3398 c.2635A>T c.(2635-2637)Agc>Tgc p.S879C USP47_ENST00000399455.2_Missense_Mutation_p.S967C|USP47_ENST00000527733.1_Missense_Mutation_p.S947C|USP47_ENST00000539466.1_5'UTR NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 967 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) CTCCAGTCATAGCAGTGATAC 0.403000 27 91 0 0 1 0 0 ALKBH2 121642 broad.mit.edu 37 12 109530431 109530431 + Missense_Mutation SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr12:109530431C>G ENST00000429722.2 - 2 524 c.161G>C c.(160-162)gGc>gCc p.G54A ALKBH2_ENST00000343075.3_Missense_Mutation_p.G54A|ALKBH2_ENST00000440112.2_Missense_Mutation_p.G54A NM_001145374.1 NP_001138846.1 Q6NS38 ALKB2_HUMAN alkB, alkylation repair homolog 2 (E. coli) 54 DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(3)|large_intestine(1)|lung(3) 8 Vitamin C(DB00126) CCAGCTAGGGCCTGCTGAGTG 0.567000 Direct reversal of damage 30 114 0 0 1 0 0 THNSL2 55258 broad.mit.edu 37 2 88484880 88484880 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:88484880G>T ENST00000324166.5 + 7 2802 c.1111G>T c.(1111-1113)Gat>Tat p.D371Y THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.D371Y NM_018271.4 NP_060741.3 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) 371 threonine biosynthetic process threonine synthase activity breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 GTCAGTGTCGGATGAAGCCAT 0.567000 15 36 2.48551e-13 3.43483e-13 1 1 0 SPPL2C 162540 broad.mit.edu 37 17 43922518 43922518 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr17:43922518C>A ENST00000329196.5 + 1 263 c.246C>A c.(244-246)cgC>cgA p.R82R MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 82 integral to membrane aspartic-type endopeptidase activity CCCAGCTCCGCTCCCCCAGCC 0.692000 9 16 0.00448238 0.0046947 1 1 0 SBK1 388228 broad.mit.edu 37 16 28330438 28330438 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr16:28330438G>C ENST00000341901.4 + 3 1138 c.349G>C c.(349-351)Gtc>Ctc p.V117L NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 117 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 CTTTGACGTGGTCTTTGAGAC 0.537000 21 80 0 0 1 0 0 KLF12 11278 broad.mit.edu 37 13 74387411 74387411 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr13:74387411G>A ENST00000377669.2 - 4 710 c.684C>T c.(682-684)ccC>ccT p.P228P KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Silent_p.P228P NM_007249.4 NP_009180.3 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 228 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) ATAGGCCTCGGGGGTCCATTT 0.428000 40 83 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151874411 151874411 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr7:151874411G>A ENST00000355193.2 - 38 8345 c.8127C>T c.(8125-8127)gtC>gtT p.V2709V KMT2C_ENST00000262189.6_Silent_p.V2709V lysine (K)-specific methyltransferase 2C CTAAGTCTTTGACTTCAACCC 0.378000 23 72 0 0 1 0 0 PSMD6 9861 broad.mit.edu 37 3 64004295 64004295 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr3:64004295G>A ENST00000492933.1 - 6 1017 c.965C>T c.(964-966)tCt>tTt p.S322F PSMD6_ENST00000295901.4_Missense_Mutation_p.S269F|PSMD6_ENST00000394431.2_Missense_Mutation_p.S231F|PSMD6_ENST00000482510.1_Missense_Mutation_p.S230F NM_001271779.1 NP_001258708.1 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 269 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex ATPase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1) 13 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) GAAGAAAACAGAGTAACGGCA 0.373000 12 25 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196689076 196689076 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:196689076C>A ENST00000312428.6 - 49 9294 c.9194G>T c.(9193-9195)cGg>cTg p.R3065L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3065 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GTCCCCAAGCCGGATACATGT 0.413000 25 83 3.96558e-24 6.2631e-24 1 1 0 IL31RA 133396 broad.mit.edu 37 5 55164699 55164699 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr5:55164699G>A ENST00000396834.1 + 5 674 c.178G>A c.(178-180)Gaa>Aaa p.E60K IL31RA_ENST00000359040.5_Missense_Mutation_p.E79K|IL31RA_ENST00000447346.2_Missense_Mutation_p.E79K|IL31RA_ENST00000297015.3_Intron|IL31RA_ENST00000396836.2_Missense_Mutation_p.E79K|IL31RA_ENST00000354961.4_Missense_Mutation_p.E60K|IL31RA_ENST00000490985.1_5'UTR NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 47 Fibronectin type-III 1. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) TCCAGGAAAGGAAACCAGTTA 0.418000 41 124 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70351130 70351130 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr4:70351130C>A ENST00000305107.6 - 5 1152 c.1106G>T c.(1105-1107)aGa>aTa p.R369I UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.R233I|UGT2B4_ENST00000512583.1_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 369 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TATAAAAGCTCTGGTTTTTGG 0.398000 50 155 2.55665e-31 4.2754e-31 1 1 0 SMU1 55234 broad.mit.edu 37 9 33068870 33068870 + Silent SNP G G A rs113018466 byFrequency TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr9:33068870G>A ENST00000397149.3 - 4 503 c.453C>T c.(451-453)ggC>ggT p.G151G SMU1_ENST00000536631.1_5'UTR NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 151 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CACTGACTTCGCCAGCTAAGG 0.507000 3 53 0 0 1 0 0 MAZ 4150 broad.mit.edu 37 16 29821464 29821464 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr16:29821464T>C ENST00000322945.6 + 5 1511 c.1346T>C c.(1345-1347)gTa>gCa p.V449A MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000545521.1_Missense_Mutation_p.V426A|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000568544.1_Missense_Mutation_p.V50A|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000563402.1_Silent_p.S105S|MAZ_ENST00000562337.1_Missense_Mutation_p.V144A|MAZ_ENST00000566906.2_Silent_p.S103S NM_002383.2 NP_002374.2 P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 449 Poly-Ala. regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 gcggcagcagtagcagcCCCT 0.672000 6 13 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100016 168100016 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:168100016G>T ENST00000409195.1 + 9 2203 c.2114G>T c.(2113-2115)gGa>gTa p.G705V XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G483V|XIRP2_ENST00000295237.9_Missense_Mutation_p.G705V NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 530 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATCAACTTGGACAGCTTCAT 0.383000 18 52 1.55795e-14 2.23044e-14 1 1 0 FAM171A1 221061 broad.mit.edu 37 10 15263031 15263031 + Silent SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr10:15263031A>T ENST00000378116.4 - 6 789 c.783T>A c.(781-783)ctT>ctA p.L261L FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 261 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CCTGGTGCACAAGACCCAGAC 0.552000 32 63 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160049472 160049472 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr5:160049472C>A ENST00000327245.5 - 14 2587 c.1741G>T c.(1741-1743)Gct>Tct p.A581S CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 581 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) AAGAAATCAGCAATGGAGGAG 0.557000 30 25 3.99451e-17 5.8882e-17 1 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 74 0 0 1 0 0 IFNA8 3445 broad.mit.edu 37 9 21409660 21409660 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr9:21409660G>A ENST00000380205.1 + 1 515 c.485G>A c.(484-486)tGt>tAt p.C162Y NM_002170.3 NP_002161.2 P32881 IFNA8_HUMAN interferon, alpha 8 162 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) TACAGCTCTTGTGCCTGGGAG 0.428000 76 232 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123997538 123997538 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr10:123997538A>T ENST00000369005.1 + 18 8674 c.8334A>T c.(8332-8334)gaA>gaT p.E2778D TACC2_ENST00000334433.3_Missense_Mutation_p.E2778D|TACC2_ENST00000358010.1_Missense_Mutation_p.E924D|TACC2_ENST00000369004.3_Missense_Mutation_p.E838D|TACC2_ENST00000369001.1_Missense_Mutation_p.E405D|TACC2_ENST00000513429.1_Missense_Mutation_p.E924D|TACC2_ENST00000368999.1_Missense_Mutation_p.E868D|TACC2_ENST00000369000.1_Missense_Mutation_p.E401D|TACC2_ENST00000360561.3_Missense_Mutation_p.E826D|TACC2_ENST00000515273.1_Missense_Mutation_p.E2705D|TACC2_ENST00000453444.2_Missense_Mutation_p.E2705D|TACC2_ENST00000260733.3_Missense_Mutation_p.E856D|TACC2_ENST00000515603.1_Missense_Mutation_p.E2656D NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2778 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) GCAGGCGGGAAGTGATGGAAA 0.473000 9 25 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11270918 11270918 + Nonsense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:11270918G>A ENST00000361445.4 - 24 3683 c.3607C>T c.(3607-3609)Cga>Tga p.R1203* NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1203 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TGATTGATTCGGTGTCGCACC 0.393000 5 75 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22163834 22163834 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr16:22163834C>A ENST00000389397.4 + 32 3452 c.590C>A c.(589-591)gCg>gAg p.A197E VWA3A_ENST00000563755.1_Missense_Mutation_p.A197E|VWA3A_ENST00000389398.5_Missense_Mutation_p.A1095E A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1095 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CCTTCCAGAGCGGCGGTTGAG 0.587000 7 15 0.000274275 0.000299894 1 1 0 MORC3 23515 broad.mit.edu 37 21 37741631 37741631 + Silent SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr21:37741631T>A ENST00000400485.1 + 15 2041 c.1965T>A c.(1963-1965)gtT>gtA p.V655V MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 655 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 AAGAAACTGTTGAAGACGAGA 0.438000 24 73 0 0 1 0 0 ABRA 137735 broad.mit.edu 37 8 107773518 107773518 + Missense_Mutation SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr8:107773518C>G ENST00000311955.3 - 2 947 c.893G>C c.(892-894)aGg>aCg p.R298T NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 298 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) ACGCTTGGCCCTTTCAGCAGT 0.517000 16 43 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104077048 104077048 + Nonsense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr12:104077048C>A ENST00000388887.2 + 26 3075 c.2871C>A c.(2869-2871)tgC>tgA p.C957* NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 957 EGF-like 10. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TAACTTCATGCTTGGAACAAA 0.323000 26 62 1.30897e-18 1.97337e-18 1 1 0 C1orf64 149563 broad.mit.edu 37 1 16330828 16330828 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:16330828G>T ENST00000329454.2 + 1 98 c.30G>T c.(28-30)tgG>tgT p.W10C NM_178840.2 NP_849162.1 Q8NEQ6 CA064_HUMAN chromosome 1 open reading frame 64 10 breast(2)|endometrium(1)|lung(3) 6 Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGGACTGGAGAGCCAACC 0.642000 4 8 0.00024832 0.000273015 1 1 0 HNRNPD 3184 broad.mit.edu 37 4 83279893 83279893 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr4:83279893C>A ENST00000313899.7 - 4 817 c.540G>T c.(538-540)ccG>ccT p.P180P HNRNPD_ENST00000543098.1_Silent_p.P128P|HNRNPD_ENST00000541060.1_Silent_p.P26P|HNRNPD_ENST00000352301.4_Silent_p.P161P|HNRNPD_ENST00000353341.4_Silent_p.P180P NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 180 nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 TTTTTTTAACCGGCTCTTTTG 0.363000 26 57 9.90768e-06 1.13967e-05 1 1 0 TET1 80312 broad.mit.edu 37 10 70360780 70360780 + Missense_Mutation SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr10:70360780A>G ENST00000373644.4 + 3 2166 c.1957A>G c.(1957-1959)Aaa>Gaa p.K653E NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 653 Sufficient for binding to genomic CpG islands. DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 AAAGAAGCCCAAAGTTTTAAA 0.308000 18 61 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43577088 43577088 + Missense_Mutation SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr15:43577088C>G ENST00000452443.2 - 7 932 c.928G>C c.(928-930)Gat>Cat p.D310H NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 310 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) AAGTTCCTATCCACGTTGTGC 0.433000 33 103 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143043333 143043333 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr7:143043333C>A ENST00000343257.2 + 18 2360 c.2273C>A c.(2272-2274)cCa>cAa p.P758Q NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 758 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CCGGAAGCACCAGAGCCTGCA 0.592000 13 40 0.00010058 0.000111197 1 1 0 PNLIPRP3 119548 broad.mit.edu 37 10 118203905 118203905 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr10:118203905G>A ENST00000369230.3 + 4 482 c.336G>A c.(334-336)caG>caA p.Q112Q NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 112 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) TGTTGCTACAGCTGGAAGATA 0.358000 9 38 0 0 1 0 0 SYNPR 132204 broad.mit.edu 37 3 63429126 63429126 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr3:63429126G>T ENST00000295894.5 + 1 374 c.5G>T c.(4-6)tGt>tTt p.C2F SYNPR_ENST00000478744.1_3'UTR|SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000465156.1_Missense_Mutation_p.C2F|SYNPR_ENST00000460711.1_Missense_Mutation_p.C2F|SYNPR_ENST00000479198.1_Missense_Mutation_p.C2F|SYNPR_ENST00000478300.1_Intron NM_144642.4 NP_653243.1 Q8TBG9 SYNPR_HUMAN synaptoporin 2 MARVEL. cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) TTGTAAATGTGTATGGTGATA 0.403000 6 11 2.0095e-06 2.36621e-06 1 1 0 PTH2 113091 broad.mit.edu 37 19 49925835 49925835 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr19:49925835G>A ENST00000270631.1 - 2 294 c.193C>T c.(193-195)Ctg>Ttg p.L65L NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 65 neuropeptide signaling pathway extracellular region endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) TCGTCCGCCAGCGCCAGGCTC 0.741000 6 10 0 0 1 0 0 HHIPL1 84439 broad.mit.edu 37 14 100118894 100118894 + Missense_Mutation SNP G G A rs145984890 TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr14:100118894G>A ENST00000330710.5 + 2 687 c.589G>A c.(589-591)Gtg>Atg p.V197M HHIPL1_ENST00000357223.2_Missense_Mutation_p.V197M NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 197 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) GCGCAACCCCGTGGCCATGGT 0.667000 3 36 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143640 56143640 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr11:56143640G>T ENST00000302270.1 + 1 541 c.541G>T c.(541-543)Gac>Tac p.D181Y NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) CTATTGTGATGACATGCCTCT 0.458000 55 213 1.14385e-22 1.77834e-22 1 1 0 LRRC17 10234 broad.mit.edu 37 7 102574765 102574765 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr7:102574765A>T ENST00000249377.4 + 2 686 c.405A>T c.(403-405)ttA>ttT p.L135F LRRC17_ENST00000339431.4_Missense_Mutation_p.L135F|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379306.3_Intron NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 135 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 CCACCCTCTTACTGCAGCACA 0.443000 16 49 0 0 1 0 0 CCDC51 79714 broad.mit.edu 37 3 48473961 48473961 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr3:48473961C>A ENST00000395694.2 - 4 1178 c.1093G>T c.(1093-1095)Ggg>Tgg p.G365W CCDC51_ENST00000395696.1_Missense_Mutation_p.G365W|CCDC51_ENST00000412398.2_Missense_Mutation_p.G256W|CCDC51_ENST00000447018.1_Missense_Mutation_p.G256W|CCDC51_ENST00000442740.1_Missense_Mutation_p.G256W NM_001256964.1 NP_001243893.1 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 365 integral to membrane endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ATCATGCTCCCCTGCTCCAGC 0.552000 3 51 1 1 1 1 0 PPP1R15A 23645 broad.mit.edu 37 19 49377008 49377008 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr19:49377008G>A ENST00000200453.5 + 2 787 c.518G>A c.(517-519)gGa>gAa p.G173E NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 173 Glu-rich.|Required for localization in the endoplasmic reticulum. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) GAAGAGGAGGGAGTTAACAAG 0.527000 16 45 0 0 1 0 0 SLC45A2 51151 broad.mit.edu 37 5 33951714 33951714 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr5:33951714G>T ENST00000382102.3 - 5 1158 c.1101C>A c.(1099-1101)gtC>gtA p.V367V SLC45A2_ENST00000296589.4_Silent_p.V367V|SLC45A2_ENST00000342059.3_Silent_p.V308V|SLC45A2_ENST00000345083.5_Silent_p.V259V|SLC45A2_ENST00000509381.1_3'UTR NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 367 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 ATCCAACCTCGACTCCTCTTT 0.453000 63 111 3.00063e-23 4.70177e-23 1 1 0 COL1A2 1278 broad.mit.edu 37 7 94053727 94053727 + Missense_Mutation SNP G G A rs140368271 TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr7:94053727G>A ENST00000297268.6 + 41 3116 c.2645G>A c.(2644-2646)cGt>cAt p.R882H NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 882 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AGAGGTGAACGTGGTCTACCA 0.478000 HNSCC(75;0.22) 29 89 0 0 1 0 0 TCF7L1 83439 broad.mit.edu 37 2 85532493 85532493 + Missense_Mutation SNP C C A rs138614113 byFrequency TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:85532493C>A ENST00000282111.3 + 8 1231 c.956C>A c.(955-957)cCg>cAg p.P319Q NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 319 Pro-rich. chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 AAGCAGGAACCGGCACCCCCC 0.662000 3 57 1 1 1 1 0 LLGL1 3996 broad.mit.edu 37 17 18135839 18135839 + Silent SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr17:18135839C>T ENST00000316843.4 + 3 306 c.210C>T c.(208-210)ggC>ggT p.G70G NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 70 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) AGTTCACAGGCCTGCACCGGG 0.587000 6 20 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1714286 1714286 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chrX:1714286G>T ENST00000313871.3 + 3 968 c.772G>T c.(772-774)Gat>Tat p.D258Y AKAP17A_ENST00000381261.3_Missense_Mutation_p.D258Y NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 258 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 GGTTTCTTTTGATTCGACCAA 0.537000 61 87 1.40369e-38 2.38747e-38 1 1 0 STARD13 90627 broad.mit.edu 37 13 33701594 33701594 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr13:33701594A>T ENST00000336934.5 - 6 1954 c.1838T>A c.(1837-1839)cTg>cAg p.L613Q STARD13_ENST00000399365.3_Missense_Mutation_p.L495Q|STARD13_ENST00000255486.4_Missense_Mutation_p.L605Q NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 613 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) GAGCAGGCTCAGCTGGCTGGC 0.627000 10 16 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71026382 71026382 + Nonsense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr10:71026382C>T ENST00000354624.5 + 18 2756 c.2623C>T c.(2623-2625)Cag>Tag p.Q875* RP11-227H15.5_ENST00000413220.1_RNA NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 875 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TAGAATATTGCAGGAAACTGT 0.403000 26 88 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869599 4869599 + Silent SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr11:4869599A>G ENST00000322101.2 - 1 915 c.840T>C c.(838-840)caT>caC p.H280H MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAGAAGAGTATGGGTATGCT 0.448000 34 87 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48234284 48234284 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr16:48234284G>A ENST00000394747.1 - 14 2334 c.1985C>T c.(1984-1986)tCt>tTt p.S662F ABCC11_ENST00000537808.1_Missense_Mutation_p.S662F|ABCC11_ENST00000394748.1_Missense_Mutation_p.S662F|ABCC11_ENST00000353782.5_Missense_Mutation_p.S662F|ABCC11_ENST00000356608.2_Missense_Mutation_p.S662F NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 662 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GTCCACAGCAGACAGGGGGTC 0.612000 17 57 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52544224 52544224 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr3:52544224C>A ENST00000321725.6 + 24 2677 c.2601C>A c.(2599-2601)caC>caA p.H867Q NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 867 EGF-like 7. 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) CCTGCTCCCACCCGGACCGTG 0.622000 18 79 0.006122 0.00637842 1 1 0 POF1B 79983 broad.mit.edu 37 X 84585975 84585975 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chrX:84585975A>T ENST00000262753.4 - 7 979 c.834T>A c.(832-834)caT>caA p.H278Q POF1B_ENST00000373145.3_Missense_Mutation_p.H278Q NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 278 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TTCTCTGCAAATGTTCTAATA 0.368000 15 11 0 0 1 0 0 UCK2 7371 broad.mit.edu 37 1 165872437 165872437 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:165872437A>T ENST00000367879.4 + 5 821 c.518A>T c.(517-519)gAg>gTg p.E173V UCK2_ENST00000372212.4_Silent_p.R125R|UCK2_ENST00000479872.1_3'UTR NM_012474.4 NP_036606.2 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 173 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) GACATCAGCGAGAGAGGCAGG 0.483000 7 150 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119976989 119976989 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr9:119976989C>A ENST00000313400.4 - 3 763 c.663G>T c.(661-663)ctG>ctT p.L221L ASTN2_ENST00000373996.3_Silent_p.L221L|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.L221L O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCA 0.597000 16 31 6.94344e-10 8.80092e-10 1 1 0 CCDC136 64753 broad.mit.edu 37 7 128441511 128441511 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr7:128441511G>T ENST00000297788.4 + 4 985 c.618G>T c.(616-618)aaG>aaT p.K206N CCDC136_ENST00000378685.4_Missense_Mutation_p.K256N|CCDC136_ENST00000464832.1_Missense_Mutation_p.K256N|CCDC136_ENST00000487361.1_Missense_Mutation_p.K206N NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 206 Glu-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 TGGAAATGAAGAGCTCTGAAC 0.483000 4 20 0.000602214 0.000654867 1 1 0 CBX5 23468 broad.mit.edu 37 12 54645824 54645824 + Splice_Site SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr12:54645824C>T ENST00000209875.4 - 3 461 c.e3+1 CBX5_ENST00000439541.2_Splice_Site|CBX5_ENST00000550411.1_Splice_Site NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 AGGAAGCTTACCTCTCTCTTT 0.323000 26 131 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18300822 18300822 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr22:18300822C>A ENST00000441493.2 - 26 4957 c.4605G>T c.(4603-4605)gaG>gaT p.E1535D NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1535 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GGCTTGAGTCCTCAGTCTTGT 0.627000 8 22 0.00307968 0.00324263 1 1 0 SPANXN2 494119 broad.mit.edu 37 X 142795254 142795254 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chrX:142795254C>A ENST00000370498.1 - 2 1177 c.424G>T c.(424-426)Gac>Tac p.D142Y NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 142 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TCAGATGAGTCCAGGTCTTCG 0.512000 88 91 7.8029e-68 1.3386e-67 1 1 0 NTRK1 4914 broad.mit.edu 37 1 156845419 156845419 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:156845419G>A ENST00000368196.3 + 11 1564 c.1444G>A c.(1444-1446)Ggc>Agc p.G482S NTRK1_ENST00000392302.2_Missense_Mutation_p.G452S|NTRK1_ENST00000524377.1_Missense_Mutation_p.G488S|NTRK1_ENST00000358660.3_Missense_Mutation_p.G482S NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 488 Interaction with SQSTM1 (By similarity). 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) TGGGCTCCAAGGCCACATCAT 0.587000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 22 58 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735796 55735796 + Silent SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr11:55735796A>G ENST00000312345.2 - 1 194 c.144T>C c.(142-144)acT>acC p.T48T NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) AATACATGGGAGTCTGGAGAG 0.338000 6 113 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236822 140236822 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr5:140236822G>T ENST00000307360.5 + 1 1189 c.1189G>T c.(1189-1191)Gtg>Ttg p.V397L PCDHA10_ENST00000506939.2_Missense_Mutation_p.V397L|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCAAGCTGGTGTCCACCTA 0.592000 50 212 4.02871e-13 5.52905e-13 1 1 0 TTN 7273 broad.mit.edu 37 2 179545040 179545040 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:179545040C>A ENST00000589042.1 - 139 33583 c.33359G>T c.(33358-33360)aGg>aTg p.R11120M TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R9876M|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R10803M|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10803 Glu-rich.|Pro-rich. 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) TGCGACAACCCTCTTGGGCTT 0.403000 45 143 9.58827e-17 1.40299e-16 1 1 0 SEMA3D 223117 broad.mit.edu 37 7 84629152 84629152 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr7:84629152C>A ENST00000284136.6 - 17 1981 c.1938G>T c.(1936-1938)acG>acT p.T646T SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 646 Ig-like C2-type. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 GCCCATATTCCGTTTTGATGA 0.408000 11 23 0.000978159 0.00104652 1 1 0 PBRM1 55193 broad.mit.edu 37 3 52584762 52584762 + Splice_Site SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr3:52584762C>A ENST00000356770.4 - 26 4422 c.e26+1 PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Splice_Site Q86U86 PB1_HUMAN polybromo 1 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GGGAGGCTCACCTGTTGTCCA 0.478000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 19 23 2.94398e-08 3.66158e-08 1 1 0 KIAA0100 9703 broad.mit.edu 37 17 26968943 26968943 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr17:26968943C>A ENST00000528896.2 - 7 804 c.730G>T c.(730-732)Ggc>Tgc p.G244C KIAA0100_ENST00000389003.3_Missense_Mutation_p.G101C|KIAA0100_ENST00000544884.1_Missense_Mutation_p.G101C NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 244 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) AGGCTTGGGCCCTGGCACAGC 0.527000 13 48 0.00136819 0.00145599 1 1 0 HDHD1 8226 broad.mit.edu 37 X 6995490 6995490 + Splice_Site SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chrX:6995490C>A ENST00000381077.5 - 3 357 c.280_splice c.e3-1 p.G94_splice HDHD1_ENST00000424830.2_Splice_Site_p.G117_splice|HDHD1_ENST00000412827.2_Splice_Site_p.G51_splice|HDHD1_ENST00000540122.1_Splice_Site_p.G94_splice NM_001178136.1|NM_012080.4 NP_001171607.1|NP_036212.3 Q08623 HDHD1_HUMAN haloacid dehalogenase-like hydrolase domain containing 1 94 nucleotide metabolic process metal ion binding|phosphatase activity breast(2)|large_intestine(1)|lung(3) 6 TTTCTCCGCCCCTGGGGAGGA 0.612000 8 7 7.48243e-07 8.9699e-07 1 1 0 PLCG2 5336 broad.mit.edu 37 16 81934352 81934352 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr16:81934352G>T ENST00000359376.3 + 14 1543 c.1329G>T c.(1327-1329)tcG>tcT p.S443S NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 443 PI-PLC X-box. 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 AGCTGCCCTCGCCCAGCCAGC 0.637000 14 27 4.14922e-12 5.61697e-12 1 1 0 SLC35F3 148641 broad.mit.edu 37 1 234455930 234455930 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:234455930G>T ENST00000366618.3 + 7 1379 c.1234G>T c.(1234-1236)Gca>Tca p.A412S SLC35F3_ENST00000366617.3_Missense_Mutation_p.A343S NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 343 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) ACCTGTGAATGCAGGTAAACC 0.398000 17 82 3.51602e-12 4.79238e-12 1 1 0 TEP1 7011 broad.mit.edu 37 14 20849819 20849819 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr14:20849819C>A ENST00000262715.5 - 31 4491 c.4451G>T c.(4450-4452)cGc>cTc p.R1484L TEP1_ENST00000556935.1_Missense_Mutation_p.R1376L|TEP1_ENST00000545983.1_Intron NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1484 NACHT. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGCACCAGGGCGCTCCAGAGG 0.617000 30 52 7.26314e-15 1.05501e-14 1 1 0 OR4M2 390538 broad.mit.edu 37 15 22369056 22369056 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr15:22369056G>T ENST00000332663.2 + 1 579 c.481G>T c.(481-483)Gct>Tct p.A161S RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CATACAGGTGGCTCTCATTGT 0.517000 55 263 2.76378e-25 4.43543e-25 1 1 0 WFIKKN2 124857 broad.mit.edu 37 17 48917283 48917283 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr17:48917283C>A ENST00000311378.4 + 2 1162 c.634C>A c.(634-636)Ctg>Atg p.L212M WFIKKN2_ENST00000426127.1_Missense_Mutation_p.L119M NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 212 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GGCCCCTGCGCTGCTCAACAA 0.652000 9 49 0.0581538 0.0596526 1 1 0 MAZ 4150 broad.mit.edu 37 16 29821465 29821465 + Missense_Mutation SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr16:29821465A>G ENST00000563402.1 + 3 447 c.316A>G c.(316-318)Agc>Ggc p.S106G MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000545521.1_Silent_p.V426V|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000322945.6_Silent_p.V449V|MAZ_ENST00000568544.1_Silent_p.V50V|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_Silent_p.V144V|MAZ_ENST00000566906.2_Missense_Mutation_p.S104G P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 106 Poly-Ala. regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 cggcagcagtagcagcCCCTC 0.672000 6 13 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183515445 183515445 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:183515445G>T ENST00000367537.3 + 18 2859 c.2664G>T c.(2662-2664)caG>caT p.Q888H SMG7_ENST00000347615.2_Missense_Mutation_p.Q905H|SMG7_ENST00000515829.2_Missense_Mutation_p.Q859H|SMG7_ENST00000507469.1_Missense_Mutation_p.Q859H|SMG7_ENST00000508461.1_Missense_Mutation_p.Q863H|SMG7_ENST00000456731.2_Missense_Mutation_p.Q817H Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 905 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GTCCAGAGCAGGATCCTGTAC 0.473000 22 62 1.36565e-18 2.04333e-18 1 1 0 LRRC75A-AS1 125144 broad.mit.edu 37 17 16342490 16342490 + RNA SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr17:16342490C>T ENST00000475953.1 + 0 132 C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA NR_027667.1 GGGCGGAGGGCAGCTGTTGAG 0.667000 7 35 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151777686 151777686 + Missense_Mutation SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr5:151777686A>G ENST00000255262.3 - 2 911 c.746T>C c.(745-747)cTt>cCt p.L249P NMUR2_ENST00000518933.1_5'UTR NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 249 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) ATCTGCCTCAAGAGATTTGTC 0.358000 27 54 0 0 1 0 0 MAX 4149 broad.mit.edu 37 14 65560493 65560493 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr14:65560493C>A ENST00000284165.6 - 3 252 c.104G>T c.(103-105)cGt>cTt p.R35L MAX_ENST00000358402.4_Missense_Mutation_p.R26L|MAX_ENST00000555932.1_Intron|MAX_ENST00000246163.2_Missense_Mutation_p.R35L|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000358664.4_Missense_Mutation_p.R35L|MAX_ENST00000556979.1_Missense_Mutation_p.R35L|RP11-840I19.3_ENST00000553633.1_RNA|RP11-840I19.3_ENST00000555261.1_RNA|MAX_ENST00000555419.1_Intron|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000557746.1_Missense_Mutation_p.R26L|MAX_ENST00000556443.1_Missense_Mutation_p.R26L|MAX_ENST00000341653.2_Missense_Mutation_p.R35L|MAX_ENST00000555667.1_Missense_Mutation_p.R26L NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X 35 transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R35H(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GTGGTCCCTACGTTTTCGTTC 0.478000 25 42 2.48779e-11 3.34508e-11 1 1 0 TMEM147 10430 broad.mit.edu 37 19 36038271 36038271 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr19:36038271G>T ENST00000392204.2 + 6 778 c.450G>T c.(448-450)ctG>ctT p.L150L TMEM147_ENST00000392205.1_3'UTR|TMEM147_ENST00000222284.5_Silent_p.L199L NM_001242597.1 NP_001229526.1 Q9BVK8 TM147_HUMAN transmembrane protein 147 199 endoplasmic reticulum membrane|integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CAGCTCTACTGGCCCGAGCAG 0.562000 3 50 1 1 1 1 0 OR11L1 391189 broad.mit.edu 37 1 248004356 248004356 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:248004356G>T ENST00000355784.2 - 1 898 c.843C>A c.(841-843)gtC>gtA p.V281V NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCAGTGGTGTGACCACAGTGT 0.443000 20 88 3.62473e-10 4.62386e-10 1 1 0 TOPORS 10210 broad.mit.edu 37 9 32541434 32541434 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr9:32541434C>A ENST00000360538.2 - 3 3205 c.3089G>T c.(3088-3090)cGg>cTg p.R1030L TOPORS_ENST00000379858.1_Missense_Mutation_p.R965L NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 1030 DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TAATGATGTCCGTGGCGATGG 0.393000 21 56 1.01871e-10 1.31639e-10 1 1 0 PASD1 139135 broad.mit.edu 37 X 150832592 150832592 + Splice_Site SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chrX:150832592C>G ENST00000370357.4 + 11 1088 c.841_splice c.e11-1 p.A281_splice NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 281 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CTTCCTCAGCCTTATCCTTGC 0.468000 28 14 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14875377 14875377 + Missense_Mutation SNP G G T rs150544869 TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr19:14875377G>T ENST00000315576.3 - 11 1403 c.952C>A c.(952-954)Ctg>Atg p.L318M EMR2_ENST00000392964.3_Missense_Mutation_p.L57M|EMR2_ENST00000353005.1_Missense_Mutation_p.L176M|EMR2_ENST00000596991.2_Missense_Mutation_p.L318M|EMR2_ENST00000595839.1_Missense_Mutation_p.L176M|EMR2_ENST00000346057.1_Missense_Mutation_p.L269M|EMR2_ENST00000594076.1_Missense_Mutation_p.L225M|EMR2_ENST00000594294.1_Missense_Mutation_p.L269M|EMR2_ENST00000601345.1_Missense_Mutation_p.L318M|EMR2_ENST00000392967.2_Missense_Mutation_p.L318M|EMR2_ENST00000392965.3_Missense_Mutation_p.L318M|EMR2_ENST00000353876.1_Missense_Mutation_p.L225M NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 318 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 AGGGTCTCCAGGTCCCCAGGG 0.612000 11 49 1.08611e-07 1.30991e-07 1 1 0 EVX2 344191 broad.mit.edu 37 2 176947074 176947074 + Silent SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:176947074C>T ENST00000308618.4 - 2 667 c.531G>A c.(529-531)gcG>gcA p.A177A NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 177 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) AGCCACCCAGCGCCGCGCTCC 0.721000 4 7 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33624444 33624444 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr5:33624444C>T ENST00000504830.1 - 14 2370 c.2035G>A c.(2035-2037)Gac>Aac p.D679N ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 679 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ATCTCATAGTCACAGCCAACC 0.542000 HNSCC(64;0.19) 29 36 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41768338 41768338 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr13:41768338C>T ENST00000379483.3 - 1 364 c.56G>A c.(55-57)gGg>gAg p.G19E NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 19 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) GGGCCGCCTCCCACCACGGGG 0.657000 7 118 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4881631 4881631 + Missense_Mutation SNP A A C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr12:4881631A>C ENST00000252318.2 + 11 2119 c.1782A>C c.(1780-1782)agA>agC p.R594S NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 594 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 TCATAAACAGAGATACCAAGC 0.522000 21 57 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224693 248224693 + Missense_Mutation SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:248224693A>G ENST00000359959.3 + 1 710 c.710A>G c.(709-711)tAc>tGc p.Y237C OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AAGAAAGCCTACCTGACCTGC 0.473000 130 173 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133048637 133048637 + Silent SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr8:133048637C>G ENST00000262283.5 - 13 1395 c.1296G>C c.(1294-1296)ctG>ctC p.L432L OC90_ENST00000254627.3_Intron|OC90_ENST00000443356.2_Silent_p.L236L|OC90_ENST00000603859.1_Intron Q02509 OC90_HUMAN otoconin 90 236 Phospholipase A2-like 3. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) AGAGAGTGATCAGTCTGTCAG 0.433000 18 55 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107267390 107267390 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr9:107267390C>A ENST00000334726.2 + 1 936 c.847C>A c.(847-849)Ccc>Acc p.P283T NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CGGACAAACCCCCATGTTGAA 0.418000 24 49 9.57634e-11 1.27256e-10 1 1 0 COL18A1 80781 broad.mit.edu 37 21 46896293 46896293 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr21:46896293C>T ENST00000359759.4 + 5 2093 c.2072C>T c.(2071-2073)gCg>gTg p.A691V COL18A1_ENST00000355480.5_Missense_Mutation_p.A456V|COL18A1_ENST00000400337.2_Missense_Mutation_p.A276V P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 691 Nonhelical region 1 (NC1). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) AGGCTCCCCGCGCCACCCCCC 0.637000 9 27 0 0 1 0 0 BTNL2 56244 broad.mit.edu 37 6 32374895 32374895 + Silent SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr6:32374895C>T ENST00000454136.3 - 1 10 c.6G>A c.(4-6)gtG>gtA p.V2V BTNL2_ENST00000374995.3_Silent_p.V2V|BTNL2_ENST00000374993.1_Silent_p.V2V|BTNL2_ENST00000540315.1_Silent_p.V2V|BTNL2_ENST00000429232.2_Silent_p.V2V|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000414363.1_Silent_p.V2V Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 2 integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 CTGGAAAATCCACCATCCTCC 0.507000 27 58 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158619707 158619707 + Missense_Mutation SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:158619707T>A ENST00000368148.3 - 25 3688 c.3508A>T c.(3508-3510)Agg>Tgg p.R1170W SPTA1_ENST00000368147.3_Missense_Mutation_p.R1170W NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1170 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTGCAAGCCTCTGCAAAGAA 0.458000 11 36 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205308439 205308439 + Missense_Mutation SNP A A C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:205308439A>C ENST00000367156.3 - 7 1456 c.640T>G c.(640-642)Ttc>Gtc p.F214V KLHDC8A_ENST00000539253.1_Missense_Mutation_p.F214V|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.F101V|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.F214V|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.F80V NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 214 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) AAGCTGGAGAAGGCCCGCTTA 0.582000 11 41 0 0 1 0 0 ZNF431 170959 broad.mit.edu 37 19 21365588 21365588 + Missense_Mutation SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr19:21365588A>G ENST00000311048.7 + 5 626 c.482A>G c.(481-483)tAt>tGt p.Y161C ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR NM_133473.2 NP_597730.2 Q8TF32 ZN431_HUMAN zinc finger protein 431 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 AAAGAAGGTTATAATGAGCTA 0.328000 14 47 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220164773 220164773 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:220164773G>C ENST00000295718.2 - 9 1610 c.1370C>G c.(1369-1371)aCg>aGg p.T457R PTPRN_ENST00000423636.2_Missense_Mutation_p.T367R|PTPRN_ENST00000409251.3_Missense_Mutation_p.T457R|AC114803.3_ENST00000417355.1_RNA NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 457 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TCCTGCCACCGTGGGCTGGCT 0.602000 21 68 0 0 1 0 0 DAK 26007 broad.mit.edu 37 11 61109956 61109956 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr11:61109956C>T ENST00000394900.3 + 8 908 c.679C>T c.(679-681)Cgc>Tgc p.R227C NM_015533.3 NP_056348.2 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 homolog (S. cerevisiae) 227 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 23 AGCTGGTGTGCGCCGGATAAA 0.592000 19 88 0 0 1 0 0 ZNF471 57573 broad.mit.edu 37 19 57037191 57037191 + Silent SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr19:57037191C>T ENST00000308031.5 + 5 1888 c.1755C>T c.(1753-1755)tcC>tcT p.S585S ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 585 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) ATAGCTCATCCTGTGCTCAGC 0.403000 4 83 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197397003 197397003 + Missense_Mutation SNP G G A rs62636270 TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:197397003G>A ENST00000367397.1 + 3 1549 c.691G>A c.(691-693)Ggc>Agc p.G231S CRB1_ENST00000544212.1_Missense_Mutation_p.G331S|CRB1_ENST00000367400.3_Missense_Mutation_p.G850S|CRB1_ENST00000535699.1_Missense_Mutation_p.G781S|CRB1_ENST00000367399.2_Missense_Mutation_p.G738S|CRB1_ENST00000538660.1_Intron P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 850 EGF-like 6; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ATTCTTCAAAGGCTGTATCCA 0.393000 17 65 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47044523 47044523 + Nonsense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chrX:47044523C>T ENST00000377604.3 + 18 2762 c.2020C>T c.(2020-2022)Cag>Tag p.Q674* RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q597*|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q596* NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 674 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 AAATAGCTTCCAGCCTATCAG 0.567000 19 14 0 0 1 0 0 SELENBP1 8991 broad.mit.edu 37 1 151341499 151341499 + Missense_Mutation SNP C C A rs150747769 by1000genomes TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:151341499C>A ENST00000426705.2 - 4 611 c.467G>T c.(466-468)cGg>cTg p.R156L SELENBP1_ENST00000435071.1_Missense_Mutation_p.R50L|SELENBP1_ENST00000447402.3_Intron|SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000368868.5_Missense_Mutation_p.R114L NM_001258289.1 NP_001245218.1 Q13228 SBP1_HUMAN selenium binding protein 1 114 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTTTGGGGCCCGGGGCTCAGA 0.607000 16 76 6.31663e-08 7.86599e-08 1 1 0 KCNQ2 3785 broad.mit.edu 37 20 62071028 62071028 + Missense_Mutation SNP A A C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr20:62071028A>C ENST00000354587.3 - 6 1026 c.850T>G c.(850-852)Tac>Gac p.Y284D KCNQ2_ENST00000344425.5_Missense_Mutation_p.Y284D|KCNQ2_ENST00000370221.1_Missense_Mutation_p.Y284D|KCNQ2_ENST00000430658.1_Missense_Mutation_p.Y284D|KCNQ2_ENST00000370224.1_Missense_Mutation_p.Y284D|KCNQ2_ENST00000359689.1_Missense_Mutation_p.Y284D|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Y284D|KCNQ2_ENST00000359125.2_Missense_Mutation_p.Y284D|KCNQ2_ENST00000344462.3_Missense_Mutation_p.Y284D|KCNQ2_ENST00000370222.3_Missense_Mutation_p.Y284D|KCNQ2_ENST00000370226.1_Missense_Mutation_p.Y284D|KCNQ2_ENST00000360480.3_Missense_Mutation_p.Y284D O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 284 Y -> C (in EBN1; 30%-60% reduction of wt heteromeric current. Ratio 1:1 or 20%- 30%; ratio of 1:1:2; dbSNP:rs28939683). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GTCTGGGGGTACTTGTCCCCG 0.642000 14 61 0 0 1 0 0 ACTN1 87 broad.mit.edu 37 14 69376758 69376758 + Splice_Site SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr14:69376758C>G ENST00000193403.6 - 5 812 c.427_splice c.e5-1 p.E143_splice ACTN1_ENST00000394419.4_Splice_Site_p.E143_splice|ACTN1_ENST00000538545.2_Splice_Site_p.E143_splice|ACTN1_ENST00000438964.2_Splice_Site_p.E143_splice|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000376839.3_Splice_Site_p.E78_splice NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 143 Actin-binding. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TGGCTGAAGTCTCTATGGGGA 0.572000 16 17 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48718047 48718047 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr15:48718047T>C ENST00000316623.5 - 59 7674 c.7219A>G c.(7219-7221)Aag>Gag p.K2407E NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2407 EGF-like 41; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TGAATAACCTTGCATTCATCG 0.328000 18 37 0 0 1 0 0 TGM7 116179 broad.mit.edu 37 15 43577088 43577088 + Missense_Mutation SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr15:43577088C>G ENST00000452443.2 - 7 932 c.928G>C c.(928-930)Gat>Cat p.D310H NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 310 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) AAGTTCCTATCCACGTTGTGC 0.433000 33 103 0 0 1 0 0 IGFBP2 3485 broad.mit.edu 37 2 217498633 217498633 + Silent SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:217498633C>T ENST00000233809.4 + 1 516 c.387C>T c.(385-387)ggC>ggT p.G129G NM_000597.2 NP_000588.2 P18065 IBP2_HUMAN insulin-like growth factor binding protein 2, 36kDa 129 IGFBP N-terminal. positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway extracellular space insulin-like growth factor I binding|insulin-like growth factor II binding p.G129G(1) endometrium(2)|large_intestine(1)|lung(2) 5 Renal(323;0.0458) Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968) TGGGCGAGGGCACTTGTGAGA 0.687000 5 5 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22847904 22847904 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr19:22847904A>T ENST00000456783.2 + 4 1677 c.1433A>T c.(1432-1434)aAg>aTg p.K478M NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 478 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) AAACCCTACAAGTGTGAAGAA 0.388000 13 31 0 0 1 0 0 OMG 4974 broad.mit.edu 37 17 29622866 29622866 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr17:29622866G>T ENST00000247271.4 - 2 745 c.484C>A c.(484-486)Cca>Aca p.P162T NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron NM_002544.4 NP_002535.3 P23515 OMGP_HUMAN oligodendrocyte myelin glycoprotein 162 cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|plasma membrane p.0?(8)|p.?(3) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1) 13 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121) ATGTTGGTTGGAACTGTCCAA 0.383000 42 115 6.33695e-27 1.03696e-26 1 1 0 SPPL2C 162540 broad.mit.edu 37 17 43922518 43922518 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr17:43922518C>A ENST00000329196.5 + 1 263 c.246C>A c.(244-246)cgC>cgA p.R82R MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 82 integral to membrane aspartic-type endopeptidase activity CCCAGCTCCGCTCCCCCAGCC 0.692000 9 16 0.00448238 0.00472081 1 1 0 PRSS35 167681 broad.mit.edu 37 6 84234289 84234289 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr6:84234289G>T ENST00000536636.1 + 3 1474 c.1129G>T c.(1129-1131)Gat>Tat p.D377Y PRSS35_ENST00000369700.3_Missense_Mutation_p.D377Y NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 377 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) CCAGTGGGTGGATGTCCACGG 0.527000 9 37 0.0581538 0.0596603 1 1 0 RAB3IP 117177 broad.mit.edu 37 12 70178569 70178569 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr12:70178569G>A ENST00000550536.1 + 4 1085 c.628G>A c.(628-630)Gaa>Aaa p.E210K RAB3IP_ENST00000553099.1_5'UTR|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000551641.1_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.E194K|RAB3IP_ENST00000362025.5_Missense_Mutation_p.E210K|RAB3IP_ENST00000378815.6_Missense_Mutation_p.E194K|RAB3IP_ENST00000247833.7_Missense_Mutation_p.E194K NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 210 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) ACAGGAATTGGAAGAACTCAC 0.343000 18 69 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60642986 60642986 + Splice_Site SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr11:60642986G>C ENST00000278853.5 + 12 1774 c.e12-1 NM_207341.2 NP_997224.2 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 (sperm receptor) single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CTCTCTGACAGACTCCAATGG 0.592000 8 23 0 0 1 0 0 SRPX 8406 broad.mit.edu 37 X 38024106 38024106 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chrX:38024106C>A ENST00000378533.3 - 5 675 c.569G>T c.(568-570)cGc>cTc p.R190L SRPX_ENST00000343800.6_Missense_Mutation_p.R177L|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Missense_Mutation_p.R190L|SRPX_ENST00000432886.2_Missense_Mutation_p.R131L|SRPX_ENST00000544439.1_Missense_Mutation_p.R170L NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 190 HYR. cell adhesion cell surface|membrane p.R190H(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 TTCTGCAATGCGTTCCTTCAC 0.443000 11 10 3.07112e-06 3.59811e-06 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168107682 168107682 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:168107682G>T ENST00000409195.1 + 9 9869 c.9780G>T c.(9778-9780)gaG>gaT p.E3260D XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3260D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3038D|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3085 actin cytoskeleton organization cell junction actin binding p.E3260E(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACGCTCAAGAGGAAATCAGGA 0.423000 22 57 3.5997e-14 5.16479e-14 1 1 0 WFIKKN2 124857 broad.mit.edu 37 17 48917306 48917306 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr17:48917306G>C ENST00000311378.4 + 2 1185 c.657G>C c.(655-657)caG>caC p.Q219H WFIKKN2_ENST00000426127.1_Missense_Mutation_p.Q126H NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 219 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CTGTGCACCAGTCGGTCACCA 0.642000 13 48 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30034020 30034020 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr11:30034020C>A ENST00000328224.6 - 2 1439 c.206G>T c.(205-207)gGg>gTg p.G69V NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 69 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 GGTACAGGCCCCGCGTGACTG 0.657000 20 49 8.10497e-08 1.00299e-07 1 1 0 FLNC 2318 broad.mit.edu 37 7 128484144 128484144 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr7:128484144C>A ENST00000325888.8 + 20 3277 c.3016C>A c.(3016-3018)Ccc>Acc p.P1006T FLNC_ENST00000346177.6_Missense_Mutation_p.P1006T NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1006 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GATGACTTCGCCCTCTCGCCG 0.662000 15 30 4.7546e-09 6.03469e-09 1 1 0 ATP8B1 5205 broad.mit.edu 37 18 55359055 55359055 + Missense_Mutation SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr18:55359055T>A ENST00000536015.1 - 12 1323 c.1204A>T c.(1204-1206)Atc>Ttc p.I402F ATP8B1_ENST00000283684.4_Missense_Mutation_p.I402F|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 402 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) TAGAGAGAGATGGGTACCATG 0.443000 16 42 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18300821 18300821 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr22:18300821C>A ENST00000441493.2 - 26 4958 c.4606G>T c.(4606-4608)Gac>Tac p.D1536Y NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1536 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) AGGCTTGAGTCCTCAGTCTTG 0.627000 8 22 0.00307968 0.00326084 1 1 0 FLG 2312 broad.mit.edu 37 1 152281717 152281717 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:152281717C>T ENST00000368799.1 - 3 5680 c.5645G>A c.(5644-5646)gGg>gAg p.G1882E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1882 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGACGCGACCCTGAGTGCCT 0.577000 Ichthyosis 98 457 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11038981 11038981 + RNA SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr21:11038981T>C ENST00000470054.1 - 0 1222 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) ATGATAACTTTATAGATTTGC 0.408000 27 451 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100567717 100567717 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr3:100567717G>T ENST00000471714.1 - 18 1634 c.1525C>A c.(1525-1527)Ccc>Acc p.P509T ABI3BP_ENST00000284322.5_Missense_Mutation_p.P460T|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P509T Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 460 Pro-rich. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GTTTGCTGGGGAGCTGAAAGA 0.403000 12 46 3.07112e-06 3.59811e-06 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803427 142803427 + RNA SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:142803427C>G ENST00000423385.1 - 0 1538 ctcatcctctcaagtagtttg 0.343000 4 17 0 0 1 0 0 ARPC1B 10095 broad.mit.edu 37 7 98987630 98987630 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr7:98987630G>C ENST00000451682.1 + 7 804 c.495G>C c.(493-495)aaG>aaC p.K165N ARPC1B_ENST00000252725.5_Missense_Mutation_p.K165N O15143 ARC1B_HUMAN actin related protein 2/3 complex, subunit 1B, 41kDa 165 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1) 11 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GTGACTTCAAGTGTCGGTGAG 0.622000 37 80 0 0 1 0 0 C15orf41 84529 broad.mit.edu 37 15 37100595 37100595 + Missense_Mutation SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr15:37100595A>G ENST00000566621.1 + 11 1037 c.787A>G c.(787-789)Atc>Gtc p.I263V C15orf41_ENST00000338183.4_Missense_Mutation_p.I165V|C15orf41_ENST00000563167.1_Missense_Mutation_p.H25R|C15orf41_ENST00000567389.1_Missense_Mutation_p.I165V|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000437989.2_Missense_Mutation_p.I263V|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000569302.1_Missense_Mutation_p.I269V|C15orf41_ENST00000562489.1_Missense_Mutation_p.I87V|C15orf41_ENST00000562877.1_Missense_Mutation_p.I165V NM_001130010.1 NP_001123482.1 Q9Y2V0 CO041_HUMAN chromosome 15 open reading frame 41 263 protein binding kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) GGAAAGGGGCATCCTGCTCAA 0.478000 11 38 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873486 91873486 + Silent SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chrX:91873486C>T ENST00000373094.1 + 7 4436 c.3591C>T c.(3589-3591)caC>caT p.H1197H PCDH11X_ENST00000298274.8_Silent_p.H1160H|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000406881.1_Silent_p.H1189H|PCDH11X_ENST00000373097.1_Silent_p.H1187H|PCDH11X_ENST00000361655.2_Silent_p.H1179H|PCDH11X_ENST00000373088.1_Silent_p.H1160H NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1197 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTCTCTGCCACAGCCCTCCAG 0.597000 8 87 0 0 1 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628630 51628630 + Silent SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr19:51628630C>T ENST00000440804.3 + 1 466 c.399C>T c.(397-399)caC>caT p.H133H SIGLEC9_ENST00000250360.3_Silent_p.H133H NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 133 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ATAAACATCACCGGCTCTCTG 0.517000 14 43 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100806591 100806591 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr12:100806591G>A ENST00000323346.5 + 10 1543 c.1230G>A c.(1228-1230)tcG>tcA p.S410S SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Silent_p.S360S NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 410 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TTGGCTTTTCGCATACCAAAG 0.448000 31 116 0 0 1 0 0 LOC93432 93432 broad.mit.edu 37 7 141896544 141896544 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr7:141896544G>C ENST00000477922.3 + 40 4614 c.4560G>C c.(4558-4560)gaG>gaC p.E1520D endometrium(1)|lung(5) 6 CTGAATATGAGATGTGTGTTC 0.483000 8 21 0 0 1 0 0 TEX11 56159 broad.mit.edu 37 X 70127661 70127661 + Splice_Site SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chrX:70127661C>A ENST00000395889.2 - 2 58 c.e2-1 TEX11_ENST00000374333.2_Splice_Site NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TGGCTCAAGCCTGTGAAATAA 0.338000 13 13 0.00010058 0.000111881 1 1 0 KMT2A 4297 broad.mit.edu 37 11 118339515 118339515 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr11:118339515C>T ENST00000534358.1 + 2 481 c.458C>T c.(457-459)tCa>tTa p.S153L KMT2A_ENST00000389506.5_Missense_Mutation_p.S153L|KMT2A_ENST00000354520.4_Missense_Mutation_p.S153L NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GGTTTTGGCTCAGATGAAGAA 0.403000 22 51 0 0 1 0 0 GID4 79018 broad.mit.edu 37 17 17948473 17948473 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr17:17948473G>T ENST00000268719.4 + 2 624 c.451G>T c.(451-453)Ggg>Tgg p.G151W GID4_ENST00000376345.3_Missense_Mutation_p.G151W NM_024052.4 NP_076957.3 GID complex subunit 4 CGTGGACACGGGGAACTCTTA 0.473000 18 36 1.01871e-10 1.33579e-10 1 1 0 BCL11A 53335 broad.mit.edu 37 2 60689148 60689148 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:60689148A>T ENST00000335712.6 - 4 1126 c.899T>A c.(898-900)gTg>gAg p.V300E BCL11A_ENST00000538214.1_Missense_Mutation_p.V266E|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.V266E|BCL11A_ENST00000356842.4_Missense_Mutation_p.V300E|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 300 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CAACCGCAGCACCCTGTCAAA 0.612000 T IGH@ B-CLL 22 64 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84530312 84530312 + RNA SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr9:84530312G>A ENST00000527857.1 + 0 334 NR_026851.1 TGCAGCTTTGGACCTCCTGCT 0.577000 4 11 0 0 1 0 0 BPIFA3 128861 broad.mit.edu 37 20 31811753 31811753 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr20:31811753G>A ENST00000375454.3 + 2 474 c.264G>A c.(262-264)caG>caA p.Q88Q BPIFA3_ENST00000375452.3_Silent_p.Q88Q|BPIFA3_ENST00000490499.1_3'UTR NM_178466.3 NP_848561.2 Q9BQP9 SPLC3_HUMAN BPI fold containing family A, member 3 88 Poly-Gln. extracellular region lipid binding AACACCAGCAGCAGCAAGAGA 0.572000 4 68 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 20 2.0095e-06 2.38252e-06 1 1 0 ANKMY1 51281 broad.mit.edu 37 2 241420440 241420440 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:241420440T>C ENST00000391987.1 - 17 3059 c.2693A>G c.(2692-2694)tAc>tGc p.Y898C ANKMY1_ENST00000406958.1_Missense_Mutation_p.Y659C|ANKMY1_ENST00000373318.2_Missense_Mutation_p.Y677C|ANKMY1_ENST00000373320.4_Missense_Mutation_p.Y668C|ANKMY1_ENST00000272972.3_Missense_Mutation_p.Y898C|ANKMY1_ENST00000361678.4_Missense_Mutation_p.Y674C|ANKMY1_ENST00000403283.1_Missense_Mutation_p.Y800C|ANKMY1_ENST00000401804.1_Missense_Mutation_p.Y987C Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 898 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) CAGGATCCCGTAGCAGCGAGG 0.617000 16 63 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17156057 17156057 + Silent SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr10:17156057T>C ENST00000377833.4 - 8 917 c.852A>G c.(850-852)caA>caG p.Q284Q NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 284 EGF-like 3; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGAAAGAGCCTTGAGTGTTGA 0.562000 4 16 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308583 248308583 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:248308583T>C ENST00000366476.1 + 1 134 c.134T>C c.(133-135)aTg>aCg p.M45T NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) AACTCTGTCATGGTTCTCCTC 0.522000 183 230 0 0 1 0 0 IGKV6D-41 28869 broad.mit.edu 37 2 90108542 90108542 + RNA SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:90108542T>C ENST00000390271.2 + 0 39 GGTGTCCCCGTTGCAATTCCT 0.408000 17 57 0 0 1 0 0 DNM1P46 196968 broad.mit.edu 37 15 100340069 100340069 + RNA SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr15:100340069C>A ENST00000341853.1 - 0 857 NR_003260.1 TCCGCCGACTCCTGCAGGAGT 0.602000 7 11 0.27861 0.282897 1 1 0 PDGFRB 5159 broad.mit.edu 37 5 149515374 149515374 + Silent SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr5:149515374T>A ENST00000261799.4 - 3 577 c.108A>T c.(106-108)acA>acT p.T36T NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 36 Ig-like C2-type 1. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCCCCGGGGGTGTGACGACCA 0.592000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 12 39 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140746158 140746158 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr5:140746158C>A ENST00000518069.1 + 1 2261 c.2261C>A c.(2260-2262)tCc>tAc p.S754Y PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGACCTATTCCCACGAGGTC 0.597000 50 187 5.57489e-27 9.19857e-27 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168107683 168107683 + Nonsense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:168107683G>T ENST00000409195.1 + 9 9870 c.9781G>T c.(9781-9783)Gaa>Taa p.E3261* XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.E3261*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.E3039*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3086 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CGCTCAAGAGGAAATCAGGAA 0.423000 22 57 3.5997e-14 5.16479e-14 1 1 0 EEF2 1938 broad.mit.edu 37 19 3982008 3982008 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr19:3982008G>T ENST00000309311.6 - 6 922 c.834C>A c.(832-834)acC>acA p.T278T NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 278 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) CTTCGGGGCTGGTGGCTGACT 0.607000 27 82 4.40665e-25 7.09362e-25 1 1 0 ZNF211 10520 broad.mit.edu 37 19 58152547 58152547 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr19:58152547G>T ENST00000544273.1 + 5 1056 c.729G>T c.(727-729)tgG>tgT p.W243C ZNF211_ENST00000347302.3_Missense_Mutation_p.W231C|ZNF211_ENST00000299871.5_Missense_Mutation_p.W296C|ZNF211_ENST00000391703.3_Missense_Mutation_p.W170C|ZNF211_ENST00000541801.1_Missense_Mutation_p.W222C|ZNF211_ENST00000240731.4_Missense_Mutation_p.W244C|ZNF211_ENST00000420680.1_Missense_Mutation_p.W235C|ZNF211_ENST00000254182.7_Missense_Mutation_p.W222C Q13398 ZN211_HUMAN zinc finger protein 211 231 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCACAACTGGGGAAAATGCA 0.448000 31 85 1.30897e-18 1.99366e-18 1 1 0 OR2L2 26246 broad.mit.edu 37 1 248201637 248201637 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:248201637G>T ENST00000366479.2 + 1 164 c.68G>T c.(67-69)gGc>gTc p.G23V OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCAAGAATTGGCCTTTTCGTA 0.388000 45 185 9.84934e-19 1.52357e-18 1 1 0 ATP6V1C2 245973 broad.mit.edu 37 2 10922461 10922461 + Missense_Mutation SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:10922461T>A ENST00000381661.3 + 12 1125 c.1016T>A c.(1015-1017)tTc>tAc p.F339Y ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.F385Y NM_144583.3 NP_653184.2 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 385 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) AACTCTGTCTTCCGACATCTG 0.443000 15 56 0 0 1 0 0 FAIM2 23017 broad.mit.edu 37 12 50264295 50264295 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr12:50264295G>C ENST00000320634.3 - 12 1037 c.943C>G c.(943-945)Cga>Gga p.R315G FAIM2_ENST00000550890.1_Missense_Mutation_p.R269G NM_012306.3 NP_036438.2 Q9BWQ8 FAIM2_HUMAN Fas apoptotic inhibitory molecule 2 315 anti-apoptosis|apoptosis cell junction|integral to membrane|postsynaptic membrane endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2) 14 CCTCATTCTCGGTTAGTGCCA 0.537000 25 64 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23900847 23900847 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr14:23900847G>C ENST00000355349.3 - 8 841 c.679C>G c.(679-681)Ctg>Gtg p.L227V NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 227 Myosin head-like. L -> V (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AAGGCCTCCAGAGCAGGGTTG 0.607000 34 124 0 0 1 0 0 SYT8 90019 broad.mit.edu 37 11 1857243 1857243 + Missense_Mutation SNP G G A rs907608 by1000genomes TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr11:1857243G>A ENST00000535046.1 + 4 842 c.842G>A c.(841-843)cGg>cAg p.R281Q SYT8_ENST00000381968.3_Intron|SYT8_ENST00000483280.1_3'UTR|SYT8_ENST00000341958.3_Intron|SYT8_ENST00000436964.2_Missense_Mutation_p.R129Q Q8NBV8 SYT8_HUMAN synaptotagmin VIII 0 C2 2. acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CAGGACCAGCGGTTCTGCGAG 0.682000 3 46 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54848227 54848227 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr19:54848227G>T ENST00000291759.4 - 6 1196 c.1140C>A c.(1138-1140)ttC>ttA p.F380L AC008984.2_ENST00000507363.1_RNA NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 380 Ig-like C2-type 4. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GACTCATGGGGAATTCAGCCT 0.607000 47 141 5.2432e-18 7.8648e-18 1 1 0 TDRKH 11022 broad.mit.edu 37 1 151755442 151755442 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:151755442C>A ENST00000368822.1 - 2 690 c.57G>T c.(55-57)ctG>ctT p.L19L TDRKH_ENST00000368827.6_Silent_p.L19L|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Silent_p.L19L|TDRKH_ENST00000368825.3_Silent_p.L19L|TDRKH_ENST00000368824.3_Silent_p.L19L|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000458431.2_Silent_p.L19L Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 19 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCCCAAGGCCCAGGGCTATTT 0.463000 39 130 6.57855e-14 9.30394e-14 1 1 0 PLEKHM1P 440456 broad.mit.edu 37 17 62820941 62820941 + RNA SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr17:62820941T>A ENST00000582986.1 - 0 188 NR_024386.1 CAGGGACACGTACTGCTTTTG 0.532000 20 38 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73812447 73812447 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chrX:73812447T>C ENST00000332687.6 - 4 921 c.703A>G c.(703-705)Atg>Gtg p.M235V RLIM_ENST00000349225.2_Missense_Mutation_p.M235V NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 235 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATTTCACTCATTGGATGCAGA 0.498000 36 17 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8484343 8484343 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr9:8484343C>A ENST00000381196.4 - 27 3732 c.3189G>T c.(3187-3189)gtG>gtT p.V1063V PTPRD_ENST00000355233.5_Silent_p.V652V|PTPRD_ENST00000540109.1_Silent_p.V1063V|PTPRD_ENST00000360074.4_Silent_p.V1050V|PTPRD_ENST00000537002.1_Silent_p.V649V|PTPRD_ENST00000358503.5_Silent_p.V1041V|PTPRD_ENST00000486161.1_Silent_p.V652V|PTPRD_ENST00000356435.5_Silent_p.V1063V|PTPRD_ENST00000397606.3_Silent_p.V642V|PTPRD_ENST00000397611.3_Silent_p.V649V|PTPRD_ENST00000397617.3_Silent_p.V642V NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1063 Fibronectin type-III 8. 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) CTCGGCCATCCACTTCTTCTA 0.378000 TSP Lung(15;0.13) 11 29 3.86212e-05 4.39483e-05 1 1 0 MAPK13 5603 broad.mit.edu 37 6 36104692 36104692 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr6:36104692T>C ENST00000211287.4 + 8 909 c.647T>C c.(646-648)aTg>aCg p.M216T MAPK13_ENST00000373759.1_Intron|MAPK13_ENST00000373761.6_Missense_Mutation_p.M206T|MAPK13_ENST00000373766.5_Intron NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 216 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 ATGGCAGAGATGCTGACAGGG 0.507000 22 60 0 0 1 0 0 EVX2 344191 broad.mit.edu 37 2 176948244 176948244 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:176948244G>T ENST00000308618.4 - 1 397 c.261C>A c.(259-261)acC>acA p.T87T NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 87 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CGGAGGAGACGGTGCTTTCGC 0.627000 13 41 6.72482e-11 9.05793e-11 1 1 0 PPARA 5465 broad.mit.edu 37 22 46627756 46627756 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr22:46627756C>T ENST00000396000.2 + 7 1044 c.779C>T c.(778-780)gCc>gTc p.A260V PPARA_ENST00000402126.1_Missense_Mutation_p.A260V|PPARA_ENST00000262735.5_Missense_Mutation_p.A260V|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000407236.1_Missense_Mutation_p.A260V Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 260 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) AAGCTGGTGGCCAATGGCATC 0.552000 8 27 0 0 1 0 0 CHST14 113189 broad.mit.edu 37 15 40764364 40764364 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr15:40764364C>T ENST00000306243.5 + 1 1205 c.952C>T c.(952-954)Cac>Tac p.H318Y CHST14_ENST00000559991.1_Missense_Mutation_p.H293Y NM_130468.3 NP_569735.1 Q8NCH0 CHSTE_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 318 carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding cervix(1)|large_intestine(1)|prostate(2) 4 all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781) GGCACCACCTCACGTCCGATT 0.627000 22 59 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902282 40902282 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr19:40902282G>A ENST00000324001.7 - 7 2247 c.1977C>T c.(1975-1977)ctC>ctT p.L659L PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 659 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGACTTTCGGGAGCTGCACTT 0.562000 6 177 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296223 20296223 + Missense_Mutation SNP A A G rs79084933 TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr14:20296223A>G ENST00000315947.1 + 1 616 c.616A>G c.(616-618)Atg>Gtg p.M206V OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CAGTGGCCTGATGACACTCCT 0.522000 36 161 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227896701 227896701 + Silent SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:227896701T>A ENST00000396625.3 - 40 3984 c.3777A>T c.(3775-3777)ccA>ccT p.P1259P COL4A4_ENST00000329662.7_Silent_p.P1259P NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1259 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GATCTCCAGGTGGACCCGGGT 0.537000 9 25 0 0 1 0 0 CRISP3 10321 broad.mit.edu 37 6 49704130 49704130 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr6:49704130G>T ENST00000433368.2 - 3 301 c.232C>A c.(232-234)Ccc>Acc p.P78T CRISP3_ENST00000371159.4_Missense_Mutation_p.P86T|CRISP3_ENST00000393666.1_Missense_Mutation_p.P55T|CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000263045.4_Missense_Mutation_p.P68T NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 55 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CTGGCAGGGGGAGATACTGCT 0.468000 50 117 2.81731e-22 4.39234e-22 1 1 0 NBEA 26960 broad.mit.edu 37 13 36167537 36167537 + Translation_Start_Site SNP G G A rs116439886 by1000genomes TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr13:36167537G>A ENST00000379922.3 + 0 395 NBEA_ENST00000540320.1_Missense_Mutation_p.V2417I|NBEA_ENST00000537702.1_Missense_Mutation_p.V210I|NBEA_ENST00000379939.2_Missense_Mutation_p.V2414I|NBEA_ENST00000310336.4_Missense_Mutation_p.V2417I|NBEA_ENST00000400445.3_Missense_Mutation_p.V2417I Q8NFP9 NBEA_HUMAN neurobeachin cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTTCTCATCCGTTGCAAGGTC 0.338000 17 67 0 0 1 0 0 IGHV1-2 28474 broad.mit.edu 37 14 106452746 106452746 + RNA SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr14:106452746G>T ENST00000390594.2 - 0 339 TGATGGACGTGTCCCTGGTCA 0.547000 60 98 1.73933e-33 2.96885e-33 1 1 0 H2AFY 9555 broad.mit.edu 37 5 134679002 134679002 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr5:134679002C>A ENST00000511689.1 - 8 1494 c.901G>T c.(901-903)Gct>Tct p.A301S H2AFY_ENST00000312469.4_Missense_Mutation_p.A298S|H2AFY_ENST00000510038.1_Missense_Mutation_p.A301S|H2AFY_ENST00000423969.2_Missense_Mutation_p.A129S|H2AFY_ENST00000512507.1_5'UTR|CTC-203F4.1_ENST00000555438.1_Intron|CTC-203F4.1_ENST00000432382.3_Missense_Mutation_p.A95D|H2AFY_ENST00000304332.4_Missense_Mutation_p.A300S NM_001040158.1|NM_138610.2 NP_001035248.1|NP_613258.2 O75367 H2AY_HUMAN H2A histone family, member Y 301 Macro. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTATCATCAGCCAGGGCCAAG 0.498000 70 89 5.45122e-27 9.0701e-27 1 1 0 NNT 23530 broad.mit.edu 37 5 43616166 43616166 + Splice_Site SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr5:43616166G>T ENST00000264663.5 + 4 819 c.599_splice c.e4+1 p.G200_splice NNT_ENST00000344920.4_Splice_Site_p.G200_splice|NNT_ENST00000512996.2_Splice_Site_p.G69_splice NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 200 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) CAACATTGCGGGGTAGGTTCT 0.413000 27 72 4.87955e-14 6.95073e-14 1 1 0 PRUNE2 158471 broad.mit.edu 37 9 79325166 79325166 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr9:79325166T>C ENST00000428286.1 - 8 2147 c.947A>G c.(946-948)gAa>gGa p.E316G PRUNE2_ENST00000376718.3_Missense_Mutation_p.E675G Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 675 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGATTCCTGTTCACTGGAACT 0.498000 15 42 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6772930 6772930 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr19:6772930C>A ENST00000304076.2 + 1 206 c.112C>A c.(112-114)Cgg>Agg p.R38R VAV1_ENST00000602142.1_Silent_p.R38R|VAV1_ENST00000596764.1_Silent_p.R38R NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 38 CH.|Leu-rich. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CCAGGCCCTCCGGGATGGTGT 0.652000 19 70 4.96729e-08 6.22483e-08 1 1 0 ZNF804A 91752 broad.mit.edu 37 2 185801843 185801843 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:185801843G>T ENST00000302277.6 + 4 2314 c.1720G>T c.(1720-1722)Gat>Tat p.D574Y NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 574 intracellular zinc ion binding p.D574Y(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GGACACTCTAGATGAAAAATA 0.299000 15 45 3.41278e-10 4.4456e-10 1 1 0 HKDC1 80201 broad.mit.edu 37 10 71026381 71026381 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr10:71026381G>T ENST00000354624.5 + 18 2755 c.2622G>T c.(2620-2622)ttG>ttT p.L874F RP11-227H15.5_ENST00000413220.1_RNA NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 874 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CTAGAATATTGCAGGAAACTG 0.403000 25 88 7.01153e-11 9.3803e-11 1 1 0 FAT2 2196 broad.mit.edu 37 5 150947209 150947209 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr5:150947209G>A ENST00000261800.5 - 1 1296 c.1284C>T c.(1282-1284)caC>caT p.H428H NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 428 Cadherin 3. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTAGCTGATAGTGGGCTCTGT 0.498000 39 124 0 0 1 0 0 OAS1 4938 broad.mit.edu 37 12 113357335 113357335 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr12:113357335G>A ENST00000202917.5 + 6 1443 c.1180G>A c.(1180-1182)Gac>Aac p.D394N OAS1_ENST00000445409.2_Missense_Mutation_p.G361E|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000551241.1_Intron NM_016816.2 NP_058132.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 394 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 GGCAGAAGAGGACTGGACCTG 0.507000 14 69 0 0 1 0 0 TEX35 84066 broad.mit.edu 37 1 178485002 178485002 + Silent SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:178485002C>G ENST00000367641.3 + 4 227 c.168C>G c.(166-168)ctC>ctG p.L56L TEX35_ENST00000319416.2_Silent_p.L56L|TEX35_ENST00000258298.2_5'UTR|TEX35_ENST00000367643.3_Silent_p.L56L|TEX35_ENST00000367642.3_Intron|TEX35_ENST00000367639.1_Silent_p.L64L testis expressed 35 AGAATGAACTCAGGGAAGTGA 0.433000 12 24 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42063167 42063167 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr7:42063167T>C ENST00000395925.3 - 10 1481 c.1397A>G c.(1396-1398)gAc>gGc p.D466G GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 466 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TTCATCTTTGTCCCCTTCCTC 0.542000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 15 68 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604499 140604499 + Missense_Mutation SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr5:140604499C>G ENST00000239449.4 + 1 1422 c.1422C>G c.(1420-1422)agC>agG p.S474R PCDHB14_ENST00000515856.2_Missense_Mutation_p.S321R NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 474 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGCGTCAGCGCCACAGACA 0.637000 99 194 0 0 1 0 0 OR51G2 81282 broad.mit.edu 37 11 4936874 4936874 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr11:4936874C>A ENST00000322013.3 - 1 48 c.20G>T c.(19-21)gGa>gTa p.G7V MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTGCTGTTTCCCAGGGATCC 0.547000 18 43 5.3912e-06 6.27917e-06 1 1 0 FRMPD1 22844 broad.mit.edu 37 9 37745408 37745408 + Nonsense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr9:37745408G>T ENST00000539465.1 + 16 3972 c.3379G>T c.(3379-3381)Gag>Tag p.E1127* RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.E1127* Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1127 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) CGTATTTCAGGAGGAGTCTAG 0.428000 14 53 1.3612e-06 1.6434e-06 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158623075 158623075 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:158623075C>A ENST00000368148.3 - 22 3357 c.3177G>T c.(3175-3177)caG>caT p.Q1059H SPTA1_ENST00000368147.3_Missense_Mutation_p.Q1059H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1059 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GGTTCTCAATCTGCTCCTGGC 0.517000 34 160 6.04917e-29 1.01503e-28 1 1 0 ATP13A4 84239 broad.mit.edu 37 3 193210752 193210752 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr3:193210752G>T ENST00000342695.4 - 5 809 c.487C>A c.(487-489)Cat>Aat p.H163N ATP13A4_ENST00000295548.3_Missense_Mutation_p.H163N|ATP13A4_ENST00000392443.3_Missense_Mutation_p.H163N NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 163 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) AATTTTTGATGTATCTTGGCA 0.308000 7 38 8.12818e-05 9.14421e-05 1 1 0 GRB10 2887 broad.mit.edu 37 7 50694650 50694650 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr7:50694650C>T ENST00000403097.1 - 7 1292 c.512G>A c.(511-513)gGg>gAg p.G171E GRB10_ENST00000398810.2_Missense_Mutation_p.G119E|GRB10_ENST00000401949.1_Missense_Mutation_p.G177E|GRB10_ENST00000402497.1_Missense_Mutation_p.G119E|GRB10_ENST00000439599.1_Missense_Mutation_p.G171E|GRB10_ENST00000402578.1_Missense_Mutation_p.G119E|GRB10_ENST00000406641.1_Missense_Mutation_p.G119E|GRB10_ENST00000357271.5_Missense_Mutation_p.G177E|GRB10_ENST00000398812.2_Missense_Mutation_p.G177E|GRB10_ENST00000335866.3_Missense_Mutation_p.G119E|GRB10_ENST00000407526.1_Missense_Mutation_p.G119E Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 177 Ras-associating. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) TTTGCTTGTCCCATCTTCACT 0.413000 Russell-Silver syndrome 60 181 0 0 1 0 0 USP47 55031 broad.mit.edu 37 11 11964407 11964407 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr11:11964407A>T ENST00000339865.5 + 19 3398 c.2635A>T c.(2635-2637)Agc>Tgc p.S879C USP47_ENST00000399455.2_Missense_Mutation_p.S967C|USP47_ENST00000527733.1_Missense_Mutation_p.S947C|USP47_ENST00000539466.1_5'UTR NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 967 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) CTCCAGTCATAGCAGTGATAC 0.403000 27 91 0 0 1 0 0 ALKBH2 121642 broad.mit.edu 37 12 109530431 109530431 + Missense_Mutation SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr12:109530431C>G ENST00000429722.2 - 2 524 c.161G>C c.(160-162)gGc>gCc p.G54A ALKBH2_ENST00000343075.3_Missense_Mutation_p.G54A|ALKBH2_ENST00000440112.2_Missense_Mutation_p.G54A NM_001145374.1 NP_001138846.1 Q6NS38 ALKB2_HUMAN alkB, alkylation repair homolog 2 (E. coli) 54 DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(3)|large_intestine(1)|lung(3) 8 Vitamin C(DB00126) CCAGCTAGGGCCTGCTGAGTG 0.567000 Direct reversal of damage 30 114 0 0 1 0 0 THNSL2 55258 broad.mit.edu 37 2 88484880 88484880 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:88484880G>T ENST00000324166.5 + 7 2802 c.1111G>T c.(1111-1113)Gat>Tat p.D371Y THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.D371Y|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000402102.1_Intron NM_018271.4 NP_060741.3 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) 371 threonine biosynthetic process threonine synthase activity breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 GTCAGTGTCGGATGAAGCCAT 0.567000 15 36 2.48551e-13 3.49028e-13 1 1 0 SBK1 388228 broad.mit.edu 37 16 28330438 28330438 + Missense_Mutation SNP G G C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr16:28330438G>C ENST00000341901.4 + 3 1138 c.349G>C c.(349-351)Gtc>Ctc p.V117L NM_001024401.2 NP_001019572.1 Q52WX2 SBK1_HUMAN SH3 domain binding kinase 1 117 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 CTTTGACGTGGTCTTTGAGAC 0.537000 21 80 0 0 1 0 0 KLF12 11278 broad.mit.edu 37 13 74387411 74387411 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr13:74387411G>A ENST00000377669.2 - 4 710 c.684C>T c.(682-684)ccC>ccT p.P228P KLF12_ENST00000377666.4_Silent_p.P228P|KLF12_ENST00000472022.1_5'UTR NM_007249.4 NP_009180.3 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 228 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) ATAGGCCTCGGGGGTCCATTT 0.428000 40 83 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151874411 151874411 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr7:151874411G>A ENST00000355193.2 - 38 8345 c.8127C>T c.(8125-8127)gtC>gtT p.V2709V KMT2C_ENST00000262189.6_Silent_p.V2709V lysine (K)-specific methyltransferase 2C CTAAGTCTTTGACTTCAACCC 0.378000 23 72 0 0 1 0 0 PSMD6 9861 broad.mit.edu 37 3 64004295 64004295 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr3:64004295G>A ENST00000492933.1 - 6 1017 c.965C>T c.(964-966)tCt>tTt p.S322F PSMD6_ENST00000295901.4_Missense_Mutation_p.S269F|PSMD6_ENST00000482510.1_Missense_Mutation_p.S230F|PSMD6_ENST00000394431.2_Missense_Mutation_p.S231F NM_001271779.1 NP_001258708.1 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 269 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex ATPase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1) 13 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) GAAGAAAACAGAGTAACGGCA 0.373000 12 25 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196689076 196689076 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:196689076C>A ENST00000312428.6 - 49 9294 c.9194G>T c.(9193-9195)cGg>cTg p.R3065L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3065 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GTCCCCAAGCCGGATACATGT 0.413000 25 83 3.96558e-24 6.33214e-24 1 1 0 IL31RA 133396 broad.mit.edu 37 5 55164699 55164699 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr5:55164699G>A ENST00000396834.1 + 5 674 c.178G>A c.(178-180)Gaa>Aaa p.E60K IL31RA_ENST00000447346.2_Missense_Mutation_p.E79K|IL31RA_ENST00000396836.2_Missense_Mutation_p.E79K|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000354961.4_Missense_Mutation_p.E60K|IL31RA_ENST00000359040.5_Missense_Mutation_p.E79K|IL31RA_ENST00000297015.3_Intron NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 47 Fibronectin type-III 1. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) TCCAGGAAAGGAAACCAGTTA 0.418000 41 124 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70351130 70351130 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr4:70351130C>A ENST00000305107.6 - 5 1152 c.1106G>T c.(1105-1107)aGa>aTa p.R369I UGT2B4_ENST00000381096.3_Missense_Mutation_p.R233I|UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000506580.1_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 369 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TATAAAAGCTCTGGTTTTTGG 0.398000 50 155 2.55665e-31 4.32663e-31 1 1 0 MAZ 4150 broad.mit.edu 37 16 29821464 29821464 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr16:29821464T>C ENST00000322945.6 + 5 1511 c.1346T>C c.(1345-1347)gTa>gCa p.V449A AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568544.1_Missense_Mutation_p.V50A|MAZ_ENST00000562337.1_Missense_Mutation_p.V144A|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000566906.2_Silent_p.S103S|MAZ_ENST00000545521.1_Missense_Mutation_p.V426A|MAZ_ENST00000563402.1_Silent_p.S105S|AC009133.14_ENST00000569981.1_RNA NM_002383.2 NP_002374.2 P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 449 Poly-Ala. regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 gcggcagcagtagcagcCCCT 0.672000 6 13 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100016 168100016 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:168100016G>T ENST00000409195.1 + 9 2203 c.2114G>T c.(2113-2115)gGa>gTa p.G705V XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G705V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G483V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 530 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATCAACTTGGACAGCTTCAT 0.383000 18 52 1.55795e-14 2.26819e-14 1 1 0 OR5R1 219479 broad.mit.edu 37 11 56185334 56185334 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr11:56185334G>T ENST00000312253.1 - 1 374 c.375C>A c.(373-375)gcC>gcA p.A125A NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GACTACAGATGGCGACATAGC 0.468000 15 74 2.32078e-09 2.96462e-09 1 1 0 FAM171A1 221061 broad.mit.edu 37 10 15263031 15263031 + Silent SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr10:15263031A>T ENST00000378116.4 - 6 789 c.783T>A c.(781-783)ctT>ctA p.L261L FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 261 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CCTGGTGCACAAGACCCAGAC 0.552000 32 63 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160049472 160049472 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr5:160049472C>A ENST00000327245.5 - 14 2587 c.1741G>T c.(1741-1743)Gct>Tct p.A581S CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 581 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) AAGAAATCAGCAATGGAGGAG 0.557000 30 25 3.99451e-17 5.94671e-17 1 1 0 SLC45A2 51151 broad.mit.edu 37 5 33951714 33951714 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr5:33951714G>T ENST00000382102.3 - 5 1158 c.1101C>A c.(1099-1101)gtC>gtA p.V367V SLC45A2_ENST00000342059.3_Silent_p.V308V|SLC45A2_ENST00000509381.1_3'UTR|SLC45A2_ENST00000345083.5_Silent_p.V259V|SLC45A2_ENST00000296589.4_Silent_p.V367V NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 367 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 ATCCAACCTCGACTCCTCTTT 0.453000 63 111 3.00063e-23 4.75299e-23 1 1 0 IFNA8 3445 broad.mit.edu 37 9 21409660 21409660 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr9:21409660G>A ENST00000380205.1 + 1 515 c.485G>A c.(484-486)tGt>tAt p.C162Y NM_002170.3 NP_002161.2 P32881 IFNA8_HUMAN interferon, alpha 8 162 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174) TACAGCTCTTGTGCCTGGGAG 0.428000 76 232 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123997538 123997538 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr10:123997538A>T ENST00000369005.1 + 18 8674 c.8334A>T c.(8332-8334)gaA>gaT p.E2778D TACC2_ENST00000358010.1_Missense_Mutation_p.E924D|TACC2_ENST00000515603.1_Missense_Mutation_p.E2656D|TACC2_ENST00000334433.3_Missense_Mutation_p.E2778D|TACC2_ENST00000260733.3_Missense_Mutation_p.E856D|TACC2_ENST00000369004.3_Missense_Mutation_p.E838D|TACC2_ENST00000515273.1_Missense_Mutation_p.E2705D|TACC2_ENST00000513429.1_Missense_Mutation_p.E924D|TACC2_ENST00000369000.1_Missense_Mutation_p.E401D|TACC2_ENST00000453444.2_Missense_Mutation_p.E2705D|TACC2_ENST00000360561.3_Missense_Mutation_p.E826D|TACC2_ENST00000369001.1_Missense_Mutation_p.E405D|TACC2_ENST00000368999.1_Missense_Mutation_p.E868D NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2778 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) GCAGGCGGGAAGTGATGGAAA 0.473000 9 25 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11270918 11270918 + Nonsense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:11270918G>A ENST00000361445.4 - 24 3683 c.3607C>T c.(3607-3609)Cga>Tga p.R1203* NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1203 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TGATTGATTCGGTGTCGCACC 0.393000 5 75 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22163834 22163834 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr16:22163834C>A ENST00000389397.4 + 32 3452 c.590C>A c.(589-591)gCg>gAg p.A197E VWA3A_ENST00000563755.1_Missense_Mutation_p.A197E|VWA3A_ENST00000389398.5_Missense_Mutation_p.A1095E A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1095 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CCTTCCAGAGCGGCGGTTGAG 0.587000 7 15 0.000274275 0.000301703 1 1 0 MORC3 23515 broad.mit.edu 37 21 37741631 37741631 + Silent SNP T T A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr21:37741631T>A ENST00000400485.1 + 15 2041 c.1965T>A c.(1963-1965)gtT>gtA p.V655V MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 655 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 AAGAAACTGTTGAAGACGAGA 0.438000 24 73 0 0 1 0 0 ABRA 137735 broad.mit.edu 37 8 107773518 107773518 + Missense_Mutation SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr8:107773518C>G ENST00000311955.3 - 2 947 c.893G>C c.(892-894)aGg>aCg p.R298T NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 298 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) ACGCTTGGCCCTTTCAGCAGT 0.517000 16 43 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104077048 104077048 + Nonsense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr12:104077048C>A ENST00000388887.2 + 26 3075 c.2871C>A c.(2869-2871)tgC>tgA p.C957* NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 957 EGF-like 10. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TAACTTCATGCTTGGAACAAA 0.323000 26 62 1.30897e-18 1.99366e-18 1 1 0 C1orf64 149563 broad.mit.edu 37 1 16330828 16330828 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:16330828G>T ENST00000329454.2 + 1 98 c.30G>T c.(28-30)tgG>tgT p.W10C NM_178840.2 NP_849162.1 Q8NEQ6 CA064_HUMAN chromosome 1 open reading frame 64 10 breast(2)|endometrium(1)|lung(3) 6 Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGGACTGGAGAGCCAACC 0.642000 4 8 0.00024832 0.000274678 1 1 0 HNRNPD 3184 broad.mit.edu 37 4 83279893 83279893 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr4:83279893C>A ENST00000313899.7 - 4 817 c.540G>T c.(538-540)ccG>ccT p.P180P HNRNPD_ENST00000541060.1_Silent_p.P26P|HNRNPD_ENST00000353341.4_Silent_p.P180P|HNRNPD_ENST00000543098.1_Silent_p.P128P|HNRNPD_ENST00000352301.4_Silent_p.P161P NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 180 nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 TTTTTTTAACCGGCTCTTTTG 0.363000 26 57 9.90768e-06 1.14721e-05 1 1 0 TET1 80312 broad.mit.edu 37 10 70360780 70360780 + Missense_Mutation SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr10:70360780A>G ENST00000373644.4 + 3 2166 c.1957A>G c.(1957-1959)Aaa>Gaa p.K653E NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 653 Sufficient for binding to genomic CpG islands. DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 AAAGAAGCCCAAAGTTTTAAA 0.308000 18 61 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18826847 18826847 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr16:18826847T>C ENST00000446231.2 - 59 10841 c.10429A>G c.(10429-10431)Atg>Gtg p.M3477V SMG1_ENST00000389467.3_Missense_Mutation_p.M3478V Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 3477 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ACCTGACCCATAGCCTGGACT 0.403000 28 67 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143043333 143043333 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr7:143043333C>A ENST00000343257.2 + 18 2360 c.2273C>A c.(2272-2274)cCa>cAa p.P758Q NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 758 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CCGGAAGCACCAGAGCCTGCA 0.592000 13 40 0.00010058 0.000111881 1 1 0 PNLIPRP3 119548 broad.mit.edu 37 10 118203905 118203905 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr10:118203905G>A ENST00000369230.3 + 4 482 c.336G>A c.(334-336)caG>caA p.Q112Q NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 112 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) TGTTGCTACAGCTGGAAGATA 0.358000 9 38 0 0 1 0 0 SYNPR 132204 broad.mit.edu 37 3 63429126 63429126 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr3:63429126G>T ENST00000295894.5 + 1 374 c.5G>T c.(4-6)tGt>tTt p.C2F SYNPR_ENST00000479198.1_Missense_Mutation_p.C2F|SYNPR_ENST00000478300.1_Intron|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000465156.1_Missense_Mutation_p.C2F|SYNPR_ENST00000460711.1_Missense_Mutation_p.C2F|SYNPR-AS1_ENST00000488201.1_RNA NM_144642.4 NP_653243.1 Q8TBG9 SYNPR_HUMAN synaptoporin 2 MARVEL. cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) TTGTAAATGTGTATGGTGATA 0.403000 6 11 2.0095e-06 2.38252e-06 1 1 0 PTH2 113091 broad.mit.edu 37 19 49925835 49925835 + Silent SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr19:49925835G>A ENST00000270631.1 - 2 294 c.193C>T c.(193-195)Ctg>Ttg p.L65L NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 65 neuropeptide signaling pathway extracellular region endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) TCGTCCGCCAGCGCCAGGCTC 0.741000 6 10 0 0 1 0 0 HHIPL1 84439 broad.mit.edu 37 14 100118894 100118894 + Missense_Mutation SNP G G A rs145984890 TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr14:100118894G>A ENST00000330710.5 + 2 687 c.589G>A c.(589-591)Gtg>Atg p.V197M HHIPL1_ENST00000357223.2_Missense_Mutation_p.V197M NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 197 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) GCGCAACCCCGTGGCCATGGT 0.667000 3 36 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143640 56143640 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr11:56143640G>T ENST00000302270.1 + 1 541 c.541G>T c.(541-543)Gac>Tac p.D181Y NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) CTATTGTGATGACATGCCTCT 0.458000 55 213 1.14385e-22 1.79749e-22 1 1 0 LRRC17 10234 broad.mit.edu 37 7 102574765 102574765 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr7:102574765A>T ENST00000249377.4 + 2 686 c.405A>T c.(403-405)ttA>ttT p.L135F FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.L135F|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379306.3_Intron NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 135 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 CCACCCTCTTACTGCAGCACA 0.443000 16 49 0 0 1 0 0 CCDC51 79714 broad.mit.edu 37 3 48473961 48473961 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr3:48473961C>A ENST00000395694.2 - 4 1178 c.1093G>T c.(1093-1095)Ggg>Tgg p.G365W CCDC51_ENST00000395696.1_Missense_Mutation_p.G365W|CCDC51_ENST00000412398.2_Missense_Mutation_p.G256W|CCDC51_ENST00000447018.1_Missense_Mutation_p.G256W|CCDC51_ENST00000442740.1_Missense_Mutation_p.G256W NM_001256964.1 NP_001243893.1 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 365 integral to membrane endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) ATCATGCTCCCCTGCTCCAGC 0.552000 3 51 1 1 1 1 0 PPP1R15A 23645 broad.mit.edu 37 19 49377008 49377008 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr19:49377008G>A ENST00000200453.5 + 2 787 c.518G>A c.(517-519)gGa>gAa p.G173E NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 173 Glu-rich.|Required for localization in the endoplasmic reticulum. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) GAAGAGGAGGGAGTTAACAAG 0.527000 16 45 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94053727 94053727 + Missense_Mutation SNP G G A rs140368271 TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr7:94053727G>A ENST00000297268.6 + 41 3116 c.2645G>A c.(2644-2646)cGt>cAt p.R882H NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 882 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) AGAGGTGAACGTGGTCTACCA 0.478000 HNSCC(75;0.22) 29 89 0 0 1 0 0 TCF7L1 83439 broad.mit.edu 37 2 85532493 85532493 + Missense_Mutation SNP C C A rs138614113 byFrequency TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:85532493C>A ENST00000282111.3 + 8 1231 c.956C>A c.(955-957)cCg>cAg p.P319Q NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 319 Pro-rich. chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 AAGCAGGAACCGGCACCCCCC 0.662000 3 57 1 1 1 1 0 LLGL1 3996 broad.mit.edu 37 17 18135839 18135839 + Silent SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr17:18135839C>T ENST00000316843.4 + 3 306 c.210C>T c.(208-210)ggC>ggT p.G70G NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 70 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) AGTTCACAGGCCTGCACCGGG 0.587000 6 20 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1714286 1714286 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chrX:1714286G>T ENST00000313871.3 + 3 968 c.772G>T c.(772-774)Gat>Tat p.D258Y AKAP17A_ENST00000381261.3_Missense_Mutation_p.D258Y NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 258 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 GGTTTCTTTTGATTCGACCAA 0.537000 61 87 1.40369e-38 2.41678e-38 1 1 0 STARD13 90627 broad.mit.edu 37 13 33701594 33701594 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr13:33701594A>T ENST00000336934.5 - 6 1954 c.1838T>A c.(1837-1839)cTg>cAg p.L613Q STARD13_ENST00000255486.4_Missense_Mutation_p.L605Q|STARD13_ENST00000399365.3_Missense_Mutation_p.L495Q NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 613 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) GAGCAGGCTCAGCTGGCTGGC 0.627000 10 16 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71026382 71026382 + Nonsense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr10:71026382C>T ENST00000354624.5 + 18 2756 c.2623C>T c.(2623-2625)Cag>Tag p.Q875* RP11-227H15.5_ENST00000413220.1_RNA NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 875 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 TAGAATATTGCAGGAAACTGT 0.403000 26 88 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869599 4869599 + Silent SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr11:4869599A>G ENST00000322101.2 - 1 915 c.840T>C c.(838-840)caT>caC p.H280H MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAGAAGAGTATGGGTATGCT 0.448000 34 87 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48234284 48234284 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr16:48234284G>A ENST00000394747.1 - 14 2334 c.1985C>T c.(1984-1986)tCt>tTt p.S662F ABCC11_ENST00000356608.2_Missense_Mutation_p.S662F|ABCC11_ENST00000537808.1_Missense_Mutation_p.S662F|ABCC11_ENST00000394748.1_Missense_Mutation_p.S662F|ABCC11_ENST00000353782.5_Missense_Mutation_p.S662F NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 662 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GTCCACAGCAGACAGGGGGTC 0.612000 17 57 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52544224 52544224 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr3:52544224C>A ENST00000321725.6 + 24 2677 c.2601C>A c.(2599-2601)caC>caA p.H867Q NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 867 EGF-like 7. 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) CCTGCTCCCACCCGGACCGTG 0.622000 18 79 0.006122 0.00641353 1 1 0 POF1B 79983 broad.mit.edu 37 X 84585975 84585975 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chrX:84585975A>T ENST00000262753.4 - 7 979 c.834T>A c.(832-834)caT>caA p.H278Q POF1B_ENST00000373145.3_Missense_Mutation_p.H278Q NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 278 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 TTCTCTGCAAATGTTCTAATA 0.368000 15 11 0 0 1 0 0 UCK2 7371 broad.mit.edu 37 1 165872437 165872437 + Missense_Mutation SNP A A T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:165872437A>T ENST00000367879.4 + 5 821 c.518A>T c.(517-519)gAg>gTg p.E173V UCK2_ENST00000479872.1_3'UTR|UCK2_ENST00000372212.4_Silent_p.R125R NM_012474.4 NP_036606.2 Q9BZX2 UCK2_HUMAN uridine-cytidine kinase 2 173 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) GACATCAGCGAGAGAGGCAGG 0.483000 7 150 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119976989 119976989 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr9:119976989C>A ENST00000313400.4 - 3 763 c.663G>T c.(661-663)ctG>ctT p.L221L ASTN2_ENST00000373996.3_Silent_p.L221L|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.L221L O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCA 0.597000 16 31 6.94344e-10 8.92728e-10 1 1 0 CCDC136 64753 broad.mit.edu 37 7 128441511 128441511 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr7:128441511G>T ENST00000297788.4 + 4 985 c.618G>T c.(616-618)aaG>aaT p.K206N CCDC136_ENST00000378685.4_Missense_Mutation_p.K256N|CCDC136_ENST00000464832.1_Missense_Mutation_p.K256N|CCDC136_ENST00000487361.1_Missense_Mutation_p.K206N NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 206 Glu-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 TGGAAATGAAGAGCTCTGAAC 0.483000 4 20 0.000602214 0.000658776 1 1 0 CBX5 23468 broad.mit.edu 37 12 54645824 54645824 + Splice_Site SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr12:54645824C>T ENST00000209875.4 - 3 461 c.e3+1 CBX5_ENST00000550411.1_Splice_Site|CBX5_ENST00000439541.2_Splice_Site NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 AGGAAGCTTACCTCTCTCTTT 0.323000 26 131 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18300822 18300822 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr22:18300822C>A ENST00000441493.2 - 26 4957 c.4605G>T c.(4603-4605)gaG>gaT p.E1535D NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1535 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GGCTTGAGTCCTCAGTCTTGT 0.627000 8 22 0.00307968 0.00326084 1 1 0 SPANXN2 494119 broad.mit.edu 37 X 142795254 142795254 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chrX:142795254C>A ENST00000370498.1 - 2 1177 c.424G>T c.(424-426)Gac>Tac p.D142Y NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 142 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TCAGATGAGTCCAGGTCTTCG 0.512000 88 91 7.8029e-68 1.35524e-67 1 1 0 NTRK1 4914 broad.mit.edu 37 1 156845419 156845419 + Missense_Mutation SNP G G A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:156845419G>A ENST00000368196.3 + 11 1564 c.1444G>A c.(1444-1446)Ggc>Agc p.G482S NTRK1_ENST00000358660.3_Missense_Mutation_p.G482S|NTRK1_ENST00000392302.2_Missense_Mutation_p.G452S|NTRK1_ENST00000524377.1_Missense_Mutation_p.G488S NM_001012331.1 NP_001012331.1 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 488 Interaction with SQSTM1 (By similarity). 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) TGGGCTCCAAGGCCACATCAT 0.587000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 22 58 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735796 55735796 + Silent SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr11:55735796A>G ENST00000312345.2 - 1 194 c.144T>C c.(142-144)acT>acC p.T48T NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) AATACATGGGAGTCTGGAGAG 0.338000 6 113 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236822 140236822 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr5:140236822G>T ENST00000307360.5 + 1 1189 c.1189G>T c.(1189-1191)Gtg>Ttg p.V397L PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V397L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCAAGCTGGTGTCCACCTA 0.592000 50 212 4.02871e-13 5.61749e-13 1 1 0 TTN 7273 broad.mit.edu 37 2 179545040 179545040 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:179545040C>A ENST00000589042.1 - 139 33583 c.33359G>T c.(33358-33360)aGg>aTg p.R11120M TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9876M|TTN_ENST00000591111.1_Missense_Mutation_p.R10803M|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10803 Glu-rich.|Pro-rich. 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) TGCGACAACCCTCTTGGGCTT 0.403000 45 143 9.58827e-17 1.41677e-16 1 1 0 SEMA3D 223117 broad.mit.edu 37 7 84629152 84629152 + Silent SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr7:84629152C>A ENST00000284136.6 - 17 1981 c.1938G>T c.(1936-1938)acG>acT p.T646T SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 646 Ig-like C2-type. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 GCCCATATTCCGTTTTGATGA 0.408000 11 23 0.000978159 0.00105258 1 1 0 PBRM1 55193 broad.mit.edu 37 3 52584762 52584762 + Splice_Site SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr3:52584762C>A ENST00000356770.4 - 26 4422 c.e26+1 PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site Q86U86 PB1_HUMAN polybromo 1 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) GGGAGGCTCACCTGTTGTCCA 0.478000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 19 23 2.94398e-08 3.71279e-08 1 1 0 KIAA0100 9703 broad.mit.edu 37 17 26968943 26968943 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr17:26968943C>A ENST00000528896.2 - 7 804 c.730G>T c.(730-732)Ggc>Tgc p.G244C KIAA0100_ENST00000544884.1_Missense_Mutation_p.G101C|KIAA0100_ENST00000389003.3_Missense_Mutation_p.G101C NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 244 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) AGGCTTGGGCCCTGGCACAGC 0.527000 13 48 0.00136819 0.00146434 1 1 0 HDHD1 8226 broad.mit.edu 37 X 6995490 6995490 + Splice_Site SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chrX:6995490C>A ENST00000381077.5 - 3 357 c.280_splice c.e3-1 p.G94_splice HDHD1_ENST00000540122.1_Splice_Site_p.G94_splice|HDHD1_ENST00000424830.2_Splice_Site_p.G117_splice|HDHD1_ENST00000412827.2_Splice_Site_p.G51_splice NM_001178136.1|NM_012080.4 NP_001171607.1|NP_036212.3 Q08623 HDHD1_HUMAN haloacid dehalogenase-like hydrolase domain containing 1 94 nucleotide metabolic process metal ion binding|phosphatase activity breast(2)|large_intestine(1)|lung(3) 6 TTTCTCCGCCCCTGGGGAGGA 0.612000 8 7 7.48243e-07 9.08909e-07 1 1 0 PLCG2 5336 broad.mit.edu 37 16 81934352 81934352 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr16:81934352G>T ENST00000359376.3 + 14 1543 c.1329G>T c.(1327-1329)tcG>tcT p.S443S NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 443 PI-PLC X-box. 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 AGCTGCCCTCGCCCAGCCAGC 0.637000 14 27 4.14922e-12 5.70517e-12 1 1 0 SLC35F3 148641 broad.mit.edu 37 1 234455930 234455930 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:234455930G>T ENST00000366618.3 + 7 1379 c.1234G>T c.(1234-1236)Gca>Tca p.A412S SLC35F3_ENST00000366617.3_Missense_Mutation_p.A343S NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 343 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) ACCTGTGAATGCAGGTAAACC 0.398000 17 82 3.51602e-12 4.86833e-12 1 1 0 TEP1 7011 broad.mit.edu 37 14 20849819 20849819 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr14:20849819C>A ENST00000262715.5 - 31 4491 c.4451G>T c.(4450-4452)cGc>cTc p.R1484L TEP1_ENST00000556935.1_Missense_Mutation_p.R1376L|TEP1_ENST00000545983.1_Intron NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1484 NACHT. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGCACCAGGGCGCTCCAGAGG 0.617000 30 52 7.26314e-15 1.06526e-14 1 1 0 OR4M2 390538 broad.mit.edu 37 15 22369056 22369056 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr15:22369056G>T ENST00000332663.2 + 1 579 c.481G>T c.(481-483)Gct>Tct p.A161S RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CATACAGGTGGCTCTCATTGT 0.517000 55 263 2.76378e-25 4.48549e-25 1 1 0 WFIKKN2 124857 broad.mit.edu 37 17 48917283 48917283 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr17:48917283C>A ENST00000311378.4 + 2 1162 c.634C>A c.(634-636)Ctg>Atg p.L212M WFIKKN2_ENST00000426127.1_Missense_Mutation_p.L119M NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 212 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GGCCCCTGCGCTGCTCAACAA 0.652000 9 49 0.0581538 0.0596603 1 1 0 MAZ 4150 broad.mit.edu 37 16 29821465 29821465 + Missense_Mutation SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr16:29821465A>G ENST00000563402.1 + 3 447 c.316A>G c.(316-318)Agc>Ggc p.S106G AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568544.1_Silent_p.V50V|MAZ_ENST00000562337.1_Silent_p.V144V|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000566906.2_Missense_Mutation_p.S104G|MAZ_ENST00000545521.1_Silent_p.V426V|MAZ_ENST00000322945.6_Silent_p.V449V|AC009133.14_ENST00000569981.1_RNA P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 106 Poly-Ala. regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 cggcagcagtagcagcCCCTC 0.672000 6 13 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183515445 183515445 + Missense_Mutation SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:183515445G>T ENST00000367537.3 + 18 2859 c.2664G>T c.(2662-2664)caG>caT p.Q888H SMG7_ENST00000515829.2_Missense_Mutation_p.Q859H|SMG7_ENST00000347615.2_Missense_Mutation_p.Q905H|SMG7_ENST00000507469.1_Missense_Mutation_p.Q859H|SMG7_ENST00000456731.2_Missense_Mutation_p.Q817H|SMG7_ENST00000508461.1_Missense_Mutation_p.Q863H Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 905 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GTCCAGAGCAGGATCCTGTAC 0.473000 22 62 1.36565e-18 2.06411e-18 1 1 0 LRRC75A-AS1 125144 broad.mit.edu 37 17 16342490 16342490 + RNA SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr17:16342490C>T ENST00000475953.1 + 0 132 C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA NR_027667.1 GGGCGGAGGGCAGCTGTTGAG 0.667000 7 35 0 0 1 0 0 NMUR2 56923 broad.mit.edu 37 5 151777686 151777686 + Missense_Mutation SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr5:151777686A>G ENST00000255262.3 - 2 911 c.746T>C c.(745-747)cTt>cCt p.L249P NMUR2_ENST00000518933.1_5'UTR NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 249 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) ATCTGCCTCAAGAGATTTGTC 0.358000 27 54 0 0 1 0 0 MAX 4149 broad.mit.edu 37 14 65560493 65560493 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr14:65560493C>A ENST00000284165.6 - 3 252 c.104G>T c.(103-105)cGt>cTt p.R35L MAX_ENST00000246163.2_Missense_Mutation_p.R35L|MAX_ENST00000358664.4_Missense_Mutation_p.R35L|MAX_ENST00000341653.2_Missense_Mutation_p.R35L|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.R26L|MAX_ENST00000556443.1_Missense_Mutation_p.R26L|MAX_ENST00000557746.1_Missense_Mutation_p.R26L|MAX_ENST00000358402.4_Missense_Mutation_p.R26L|MAX_ENST00000556979.1_Missense_Mutation_p.R35L|RP11-840I19.3_ENST00000555261.1_RNA|MAX_ENST00000555419.1_Intron|RP11-840I19.3_ENST00000553633.1_RNA|RP11-840I19.3_ENST00000555898.1_RNA NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X 35 transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R35H(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GTGGTCCCTACGTTTTCGTTC 0.478000 25 42 2.48779e-11 3.39713e-11 1 1 0 TMEM147 10430 broad.mit.edu 37 19 36038271 36038271 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr19:36038271G>T ENST00000392204.2 + 6 778 c.450G>T c.(448-450)ctG>ctT p.L150L TMEM147_ENST00000392205.1_3'UTR|TMEM147_ENST00000222284.5_Silent_p.L199L NM_001242597.1 NP_001229526.1 Q9BVK8 TM147_HUMAN transmembrane protein 147 199 endoplasmic reticulum membrane|integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CAGCTCTACTGGCCCGAGCAG 0.562000 3 50 1 1 1 1 0 OR11L1 391189 broad.mit.edu 37 1 248004356 248004356 + Silent SNP G G T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:248004356G>T ENST00000355784.2 - 1 898 c.843C>A c.(841-843)gtC>gtA p.V281V NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCAGTGGTGTGACCACAGTGT 0.443000 20 88 3.62473e-10 4.69083e-10 1 1 0 TOPORS 10210 broad.mit.edu 37 9 32541434 32541434 + Missense_Mutation SNP C C A TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr9:32541434C>A ENST00000360538.2 - 3 3205 c.3089G>T c.(3088-3090)cGg>cTg p.R1030L TOPORS_ENST00000379858.1_Missense_Mutation_p.R965L NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 1030 DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TAATGATGTCCGTGGCGATGG 0.393000 21 56 1.01871e-10 1.33579e-10 1 1 0 PASD1 139135 broad.mit.edu 37 X 150832592 150832592 + Splice_Site SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chrX:150832592C>G ENST00000370357.4 + 11 1088 c.841_splice c.e11-1 p.A281_splice NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 281 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CTTCCTCAGCCTTATCCTTGC 0.468000 28 14 0 0 1 0 0 EMR2 30817 broad.mit.edu 37 19 14875377 14875377 + Missense_Mutation SNP G G T rs150544869 TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr19:14875377G>T ENST00000315576.3 - 11 1403 c.952C>A c.(952-954)Ctg>Atg p.L318M EMR2_ENST00000594294.1_Missense_Mutation_p.L269M|EMR2_ENST00000346057.1_Missense_Mutation_p.L269M|EMR2_ENST00000392967.2_Missense_Mutation_p.L318M|EMR2_ENST00000392965.3_Missense_Mutation_p.L318M|EMR2_ENST00000595839.1_Missense_Mutation_p.L176M|EMR2_ENST00000601345.1_Missense_Mutation_p.L318M|EMR2_ENST00000353005.1_Missense_Mutation_p.L176M|EMR2_ENST00000353876.1_Missense_Mutation_p.L225M|EMR2_ENST00000594076.1_Missense_Mutation_p.L225M|EMR2_ENST00000596991.2_Missense_Mutation_p.L318M|EMR2_ENST00000392964.3_Missense_Mutation_p.L57M NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 318 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 AGGGTCTCCAGGTCCCCAGGG 0.612000 11 49 1.08611e-07 1.32747e-07 1 1 0 EVX2 344191 broad.mit.edu 37 2 176947074 176947074 + Silent SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:176947074C>T ENST00000308618.4 - 2 667 c.531G>A c.(529-531)gcG>gcA p.A177A NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 177 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) AGCCACCCAGCGCCGCGCTCC 0.721000 4 7 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33624444 33624444 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr5:33624444C>T ENST00000504830.1 - 14 2370 c.2035G>A c.(2035-2037)Gac>Aac p.D679N ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 679 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ATCTCATAGTCACAGCCAACC 0.542000 HNSCC(64;0.19) 29 36 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41768338 41768338 + Missense_Mutation SNP C C T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr13:41768338C>T ENST00000379483.3 - 1 364 c.56G>A c.(55-57)gGg>gAg p.G19E NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 19 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) GGGCCGCCTCCCACCACGGGG 0.657000 7 118 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4881631 4881631 + Missense_Mutation SNP A A C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr12:4881631A>C ENST00000252318.2 + 11 2119 c.1782A>C c.(1780-1782)agA>agC p.R594S NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 594 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 TCATAAACAGAGATACCAAGC 0.522000 21 57 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224693 248224693 + Missense_Mutation SNP A A G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr1:248224693A>G ENST00000359959.3 + 1 710 c.710A>G c.(709-711)tAc>tGc p.Y237C OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AAGAAAGCCTACCTGACCTGC 0.473000 130 173 0 0 1 0 0 OC90 729330 broad.mit.edu 37 8 133048637 133048637 + Silent SNP C C G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr8:133048637C>G ENST00000262283.5 - 13 1395 c.1296G>C c.(1294-1296)ctG>ctC p.L432L OC90_ENST00000443356.2_Silent_p.L236L|OC90_ENST00000603859.1_Intron|OC90_ENST00000254627.3_Intron Q02509 OC90_HUMAN otoconin 90 236 Phospholipase A2-like 3. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) AGAGAGTGATCAGTCTGTCAG 0.433000 18 55 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27100182 27100184 + In_Frame_Del DEL GCA GCA - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr1:27100182_27100184delGCA ENST00000324856.7 + 16 4349_4351 c.3978_3980delGCA c.(3976-3981)ccg>cc p.PQ1326del ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del|ARID1A_ENST00000540690.1_5'UTR NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1326 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q1327*(1)|p.Q1334delQ(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCTACCCCCCgcagcagcagcag 0.591 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 7 101 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179414066 179414066 + Frame_Shift_Del DEL T T - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr2:179414066delT ENST00000589042.1 - 339 92511 c.92287delA c.(92287-92289)gcfs p.S30763fs TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.S21698fs|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.S29122fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.S21890fs|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.S28195fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.S21823fs NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29122 Fibronectin type-III 124. 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) CATCTTGTGCTTTTCTTTTCT 0.413 29 82 --- --- --- --- HSPD1P6 645548 broad.mit.edu 37 3 36810381 36810381 + RNA DEL T T - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr3:36810381delT ENST00000424886.1 - 0 405 GAGTGAGGCCttttttttttt 0.542 4 7 --- --- --- --- DRD3 1814 broad.mit.edu 37 3 113849986 113849986 + Frame_Shift_Del DEL G G - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr3:113849986delG ENST00000383673.2 - 6 1415 c.985delC c.(985-987)aafs p.Q329fs DRD3_ENST00000460779.1_Frame_Shift_Del_p.Q329fs|DRD3_ENST00000295881.7_Frame_Shift_Del_p.Q296fs|DRD3_ENST00000467632.1_Frame_Shift_Del_p.Q329fs NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 329 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GCCACCATTTGGGTTGCCTTC 0.498 17 54 --- --- --- --- DRD3 1814 broad.mit.edu 37 3 113850028 113850028 + Frame_Shift_Del DEL G G - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr3:113850028delG ENST00000383673.2 - 6 1373 c.943delC c.(943-945)tgfs p.L315fs DRD3_ENST00000460779.1_Frame_Shift_Del_p.L315fs|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Frame_Shift_Del_p.L315fs NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 315 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CGAGGTTGCAGGGGCCCCAGC 0.537 31 104 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 2 4 --- --- --- --- COL21A1 81578 broad.mit.edu 37 6 56044716 56044716 + Frame_Shift_Del DEL C C - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr6:56044716delC ENST00000244728.5 - 3 697 c.300delG c.(298-300)ttfs p.L100fs COL21A1_ENST00000535941.1_Frame_Shift_Del_p.L100fs|COL21A1_ENST00000370819.1_Frame_Shift_Del_p.L100fs NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 100 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) CTGCTGCCGTCAAATGTTCTC 0.463 12 27 --- --- --- --- SFRP4 6424 broad.mit.edu 37 7 37956011 37956011 + Frame_Shift_Del DEL G G - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr7:37956011delG ENST00000436072.2 - 1 506 c.129delC c.(127-129)ccfs p.P43fs EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 43 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GCAGGTGGTTGGGCATCCGCG 0.682 21 73 --- --- --- --- GLS2 27165 broad.mit.edu 37 12 56868875 56868875 + Frame_Shift_Del DEL T T - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr12:56868875delT ENST00000311966.4 - 10 1227 c.949delA c.(949-951)cafs p.T317fs GLS2_ENST00000476991.1_5'UTR NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 317 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CGATCCCCTGTTTCCTTCTCT 0.473 64 203 --- --- --- --- RTL1 388015 broad.mit.edu 37 14 101350670 101350671 + In_Frame_Ins INS - - TCT rs55755518 by1000genomes TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr14:101350670_101350671insTCT ENST00000534062.1 - 1 513_514 c.455_456insAGA c.(454-456)gca>gAGAca p.152_152A>ET NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 152 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TCTGGTTTTGCTCTTGAGGAGT 0.520 4 2 --- --- --- --- ALOX12 239 broad.mit.edu 37 17 6913280 6913288 + In_Frame_Del DEL CTGGTATGC CTGGTATGC - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr17:6913280_6913288delCTGGTATGC ENST00000251535.6 + 13 1700_1708 c.1647_1655delCTGGTATGC c.(1645-1656)gac>ga p.DWYA549del AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 549 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 TCCAGCTGGACTGGTATGCCTGGGTCCCT 0.560 10 75 --- --- --- --- TBC1D3P1-DHX40P1 653645 broad.mit.edu 37 17 58090680 58090681 + RNA INS - - T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr17:58090680_58090681insT ENST00000407042.3 - 0 609 ACTCTGAATGATTTTTTTTTTT 0.455 2 4 --- --- --- --- SERPINB11 89778 broad.mit.edu 37 18 61390583 61390584 + RNA DEL CA CA - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae d522702c-a21c-467b-b77c-6ea8717c194e g.chr18:61390583_61390584delCA ENST00000544088.1 + 0 1191_1192 SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CTTTATAAGGCACACTCATACC 0.515 31 87 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179414066 179414066 + Frame_Shift_Del DEL T T - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr2:179414066delT ENST00000589042.1 - 339 92511 c.92287delA c.(92287-92289)gcfs p.S30763fs TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.S21890fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.S21698fs|TTN-AS1_ENST00000419746.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.S21823fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.S29122fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.S28195fs|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29122 Fibronectin type-III 124. 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) CATCTTGTGCTTTTCTTTTCT 0.413 29 82 --- --- --- --- DRD3 1814 broad.mit.edu 37 3 113849986 113849986 + Frame_Shift_Del DEL G G - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr3:113849986delG ENST00000383673.2 - 6 1415 c.985delC c.(985-987)aafs p.Q329fs DRD3_ENST00000467632.1_Frame_Shift_Del_p.Q329fs|DRD3_ENST00000460779.1_Frame_Shift_Del_p.Q329fs|DRD3_ENST00000295881.7_Frame_Shift_Del_p.Q296fs NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 329 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GCCACCATTTGGGTTGCCTTC 0.498 17 54 --- --- --- --- DRD3 1814 broad.mit.edu 37 3 113850028 113850028 + Frame_Shift_Del DEL G G - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr3:113850028delG ENST00000383673.2 - 6 1373 c.943delC c.(943-945)tgfs p.L315fs DRD3_ENST00000467632.1_Frame_Shift_Del_p.L315fs|DRD3_ENST00000460779.1_Frame_Shift_Del_p.L315fs|DRD3_ENST00000295881.7_Intron NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 315 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CGAGGTTGCAGGGGCCCCAGC 0.537 31 104 --- --- --- --- COL21A1 81578 broad.mit.edu 37 6 56044716 56044716 + Frame_Shift_Del DEL C C - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr6:56044716delC ENST00000244728.5 - 3 697 c.300delG c.(298-300)ttfs p.L100fs COL21A1_ENST00000535941.1_Frame_Shift_Del_p.L100fs|COL21A1_ENST00000370819.1_Frame_Shift_Del_p.L100fs NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 100 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) CTGCTGCCGTCAAATGTTCTC 0.463 12 27 --- --- --- --- SFRP4 6424 broad.mit.edu 37 7 37956011 37956011 + Frame_Shift_Del DEL G G - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr7:37956011delG ENST00000436072.2 - 1 506 c.129delC c.(127-129)ccfs p.P43fs EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 43 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GCAGGTGGTTGGGCATCCGCG 0.682 21 73 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr11:118629613_118629614insG ENST00000264018.4 - 9 1170 c.e9-2 DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL 30 115 --- --- --- --- GLS2 27165 broad.mit.edu 37 12 56868875 56868875 + Frame_Shift_Del DEL T T - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr12:56868875delT ENST00000311966.4 - 10 1227 c.949delA c.(949-951)cafs p.T317fs GLS2_ENST00000476991.1_5'UTR NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 317 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CGATCCCCTGTTTCCTTCTCT 0.473 64 203 --- --- --- --- DHX38 9785 broad.mit.edu 37 16 72138456 72138457 + Frame_Shift_Ins INS - - T TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr16:72138456_72138457insT ENST00000268482.3 + 15 2591_2592 c.2082_2083insT c.(2080-2085)gcttttfs p.AF694fs DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 694 Helicase ATP-binding. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) AGTTTGCTGCCTTTTTTGGGAA 0.564 29 78 --- --- --- --- ALOX12 239 broad.mit.edu 37 17 6913280 6913288 + In_Frame_Del DEL CTGGTATGC CTGGTATGC - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr17:6913280_6913288delCTGGTATGC ENST00000251535.6 + 13 1700_1708 c.1647_1655delCTGGTATGC c.(1645-1656)gac>ga p.DWYA549del AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 549 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 TCCAGCTGGACTGGTATGCCTGGGTCCCT 0.560 10 75 --- --- --- --- SERPINB11 89778 broad.mit.edu 37 18 61390583 61390584 + RNA DEL CA CA - TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4daa1421-462e-467b-bd12-1998736406ae a53ffcc4-1471-4a5a-8f8a-1921eae48392 g.chr18:61390583_61390584delCA ENST00000544088.1 + 0 1191_1192 SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CTTTATAAGGCACACTCATACC 0.515 31 87 --- --- --- ---