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 AKR1D1 6718 broad.mit.edu 37 7 137773485 137773485 + Missense_Mutation SNP C C T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr7:137773485C>T ENST00000242375.3 + 2 274 c.232C>T c.(232-234)Cgg>Tgg p.R78W AKR1D1_ENST00000411726.2_Missense_Mutation_p.R78W|AKR1D1_ENST00000432161.1_Missense_Mutation_p.R78W|AKR1D1_ENST00000468877.2_Intron NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 78 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 AGGAAAGGTGCGGAGGGAAGA 0.458000 6 11 0 0 1 0 0 APTX 54840 broad.mit.edu 37 9 32973634 32973634 + Silent SNP T T A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr9:32973634T>A ENST00000379817.2 - 7 1087 c.891A>T c.(889-891)gtA>gtT p.V297V APTX_ENST00000309615.3_3'UTR|APTX_ENST00000463596.1_Silent_p.V297V|APTX_ENST00000476858.1_Silent_p.V257V|APTX_ENST00000379825.2_3'UTR|APTX_ENST00000379813.3_Silent_p.V297V|APTX_ENST00000468275.1_Silent_p.V297V|APTX_ENST00000397172.3_Silent_p.V239V|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000379819.1_Silent_p.V311V Q7Z2E3 APTX_HUMAN aprataxin 311 cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair chromatin|nucleolus|nucleoplasm chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding endometrium(1)|lung(1)|ovary(2)|prostate(2) 6 LUSC - Lung squamous cell carcinoma(29;0.0302) GBM - Glioblastoma multiforme(74;0.105) CAGCCTCTTGTACCATCTCGA 0.453000 Editing and processing nucleases 31 16 0 0 1 0 0 ISL1 3670 broad.mit.edu 37 5 50689350 50689350 + Missense_Mutation SNP C C T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr5:50689350C>T ENST00000230658.7 + 6 1541 c.956C>T c.(955-957)cCg>cTg p.P319L ISL1_ENST00000511384.1_Missense_Mutation_p.P296L NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 319 Gln-rich. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) GAAGGAGGACCGGGCTCTAAT 0.393000 4 40 0 0 1 0 0 TAF13 6884 broad.mit.edu 37 1 109607266 109607266 + Missense_Mutation SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr1:109607266T>C ENST00000338366.5 - 4 308 c.254A>G c.(253-255)gAt>gGt p.D85G NM_005645.3 NP_005636.1 Q15543 TAF13_HUMAN TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa 85 transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIID complex protein C-terminus binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1) 3 all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228) GAAGACGATATCTTCAACTTG 0.333000 68 101 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 228012208 228012208 + Translation_Start_Site SNP A A T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr2:228012208A>T ENST00000396625.3 - 0 199 COL4A4_ENST00000329662.7_De_novo_Start_InFrame NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 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) ATCGCAGGCAAGTCTTAGTAC 0.453000 55 153 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678325 100678325 + Missense_Mutation SNP C C T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr7:100678325C>T ENST00000306151.4 + 3 3692 c.3628C>T c.(3628-3630)Cca>Tca p.P1210S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1210 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P1210S(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCTCAAC 0.512000 6 677 0 0 1 0 0 DUS3L 56931 broad.mit.edu 37 19 5786534 5786534 + Silent SNP T T G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr19:5786534T>G ENST00000309061.7 - 10 1602 c.1506A>C c.(1504-1506)tcA>tcC p.S502S DUS3L_ENST00000320699.8_Silent_p.S260S NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 502 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 CATCCTCAAATGACAAGATGT 0.572000 11 4 0 0 1 0 0 ZNF10 7556 broad.mit.edu 37 12 133727720 133727720 + Missense_Mutation SNP A A G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr12:133727720A>G ENST00000248211.6 + 3 362 c.140A>G c.(139-141)tAt>tGt p.Y47C ZNF268_ENST00000416488.1_Missense_Mutation_p.Y47C|ZNF10_ENST00000540927.1_3'UTR|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.Y47C|ZNF10_ENST00000426665.2_Missense_Mutation_p.Y47C|ZNF10_ENST00000402932.2_Missense_Mutation_p.Y47C NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 47 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) CTGGAGAACTATAAGAACCTG 0.453000 33 43 0 0 1 0 0 FAM21C 253725 broad.mit.edu 37 10 46250556 46250556 + Silent SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr10:46250556T>C ENST00000336378.4 + 15 1531 c.1413T>C c.(1411-1413)tcT>tcC p.S471S FAM21C_ENST00000537517.1_Silent_p.S447S|FAM21C_ENST00000540872.1_Silent_p.S471S|FAM21C_ENST00000359860.4_Silent_p.S415S|FAM21C_ENST00000374362.2_Silent_p.S471S NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 471 central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 GCAAACCTTCTAAAACACGTA 0.458000 4 4 0 0 1 0 0 ZNF180 7733 broad.mit.edu 37 19 44981361 44981361 + Missense_Mutation SNP A A T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr19:44981361A>T ENST00000221327.4 - 5 1618 c.1337T>A c.(1336-1338)tTc>tAc p.F446Y ZNF180_ENST00000391956.4_Missense_Mutation_p.F421Y|ZNF180_ENST00000592529.1_Missense_Mutation_p.F419Y NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) GCTCTGCCTGAATGACTTTCC 0.393000 24 30 0 0 1 0 0 COPG1 22820 broad.mit.edu 37 3 128976661 128976661 + Missense_Mutation SNP C C G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr3:128976661C>G ENST00000314797.6 + 10 933 c.829C>G c.(829-831)Ctg>Gtg p.L277V NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 277 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity CATCGTCAATCTGCCAGGCTG 0.567000 8 233 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 41 0 0 1 0 0 COL18A1 80781 broad.mit.edu 37 21 46888461 46888461 + Missense_Mutation SNP C C T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr21:46888461C>T ENST00000359759.4 + 2 1678 c.1657C>T c.(1657-1659)Ctc>Ttc p.L553F COL18A1_ENST00000355480.5_Missense_Mutation_p.L318F|COL18A1_ENST00000400337.2_Missense_Mutation_p.L138F P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 553 TSP N-terminal. 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) CATCTCCCTGCTCTACACAGA 0.662000 49 82 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 4 102 0 0 1 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789864 6789864 + Missense_Mutation SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr11:6789864T>C ENST00000338569.2 - 1 422 c.325A>G c.(325-327)Agc>Ggc p.S109G NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCCTCAGCGCTACCCATTGTC 0.522000 21 45 0 0 1 0 0 STARD5 80765 broad.mit.edu 37 15 81614837 81614837 + Nonsense_Mutation SNP C C T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr15:81614837C>T ENST00000302824.6 - 3 219 c.194G>A c.(193-195)tGg>tAg p.W65* STARD5_ENST00000559913.1_5'UTR NM_181900.2 NP_871629.1 Q9NSY2 STAR5_HUMAN StAR-related lipid transfer (START) domain containing 5 65 START. C21-steroid hormone biosynthetic process|lipid transport cytosol lipid binding large_intestine(3)|ovary(1)|skin(1)|stomach(1) 6 CACACAGTCCCACACCTCCTC 0.473000 7 78 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94640173 94640173 + Missense_Mutation SNP G G A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr1:94640173G>A ENST00000260526.6 - 23 3220 c.3038C>T c.(3037-3039)aCc>aTc p.T1013I NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 1013 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TCTAATCTTGGTCCTTGGAGT 0.398000 47 75 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36700177 36700177 + Missense_Mutation SNP G G A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr13:36700177G>A ENST00000255448.4 - 2 309 c.98C>T c.(97-99)cCg>cTg p.P33L DCLK1_ENST00000379892.4_Missense_Mutation_p.P33L|DCLK1_ENST00000360631.3_Missense_Mutation_p.P33L NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 33 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GCTGTGCGTCGGGCTCGGCAG 0.607000 60 30 0 0 1 0 0 SCNN1G 6340 broad.mit.edu 37 16 23226426 23226426 + Missense_Mutation SNP C C A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr16:23226426C>A ENST00000300061.2 + 13 1729 c.1586C>A c.(1585-1587)tCc>tAc p.S529Y NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 529 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) ATGCTTCTGTCCAACTTCGGT 0.542000 20 28 2.4624e-09 2.74752e-09 1 1 0 SLC5A12 159963 broad.mit.edu 37 11 26714150 26714150 + Splice_Site SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr11:26714150T>C ENST00000396005.3 - 9 1350 c.e9-2 SLC5A12_ENST00000280467.6_Splice_Site NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 GCCACGGTGCTATAAGGAAAG 0.488000 4 56 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47611577 47611577 + Missense_Mutation SNP A A G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr1:47611577A>G ENST00000371891.3 + 10 1293 c.1262A>G c.(1261-1263)aAc>aGc p.N421S CYP4A22_ENST00000294337.3_Missense_Mutation_p.N421S|CYP4A22_ENST00000371890.3_Missense_Mutation_p.N323S|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 421 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTTCACCACAACCCAAAAGTG 0.517000 150 230 0 0 1 0 0 NAA25 80018 broad.mit.edu 37 12 112481439 112481439 + Missense_Mutation SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr12:112481439T>C ENST00000261745.4 - 18 2488 c.2240A>G c.(2239-2241)aAg>aGg p.K747R NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 747 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 CTGAATATCCTTCTCAATAAA 0.408000 28 46 0 0 1 0 0 TM9SF3 56889 broad.mit.edu 37 10 98307666 98307666 + Missense_Mutation SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr10:98307666T>C ENST00000371142.4 - 8 1256 c.1040A>G c.(1039-1041)tAt>tGt p.Y347C TM9SF3_ENST00000490192.1_5'UTR NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 347 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TTGTCTAGCATACAGACTTCC 0.353000 32 61 0 0 1 0 0 KCTD20 222658 broad.mit.edu 37 6 36454762 36454762 + Missense_Mutation SNP A A G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr6:36454762A>G ENST00000373731.2 + 8 1461 c.1070A>G c.(1069-1071)aAg>aGg p.K357R KCTD20_ENST00000536244.1_Missense_Mutation_p.K212R|KCTD20_ENST00000449081.2_Missense_Mutation_p.K191R|KCTD20_ENST00000544295.1_Missense_Mutation_p.K111R|KCTD20_ENST00000474988.1_3'UTR NM_173562.3 NP_775833.2 Q7Z5Y7 KCD20_HUMAN potassium channel tetramerization domain containing 20 357 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1) 15 TCATGGGAAAAGGAAGAAGGG 0.478000 4 152 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118974096 118974096 + Missense_Mutation SNP T T G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr9:118974096T>G ENST00000328252.3 + 4 2172 c.1803T>G c.(1801-1803)aaT>aaG p.N601K PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 601 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ACCTCTGCAATGATACCAACC 0.532000 6 341 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385140 58385140 + Missense_Mutation SNP G G T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr19:58385140G>T ENST00000435989.2 - 3 1852 c.1618C>A c.(1618-1620)Caa>Aaa p.Q540K ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 540 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 GTGTGAATTTGCTGATGGTTC 0.448000 3 40 0.115264 0.115264 1 1 0 ATP10D 57205 broad.mit.edu 37 4 47525029 47525029 + Splice_Site SNP G G T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr4:47525029G>T ENST00000273859.3 + 4 755 c.485_splice c.e4-1 p.R162_splice ATP10D_ENST00000504445.1_Splice_Site_p.R162_splice NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 162 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 ttaattaCAGGAAAGAGAAAA 0.303000 8 27 0.00448238 0.00456858 1 1 0 NOC3L 64318 broad.mit.edu 37 10 96106181 96106181 + Splice_Site SNP C C A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr10:96106181C>A ENST00000371361.3 - 11 1490 c.e11+1 NOC3L_ENST00000543788.1_Splice_Site|NOC3L_ENST00000371350.1_Splice_Site NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) ATAAGTCAAACCTTTCTCTGC 0.259000 7 21 0.00198382 0.0020416 1 1 0 COL8A2 1296 broad.mit.edu 37 1 36564394 36564394 + Silent SNP C C T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr1:36564394C>T ENST00000397799.1 - 4 1112 c.888G>A c.(886-888)ggG>ggA p.G296G COL8A2_ENST00000481785.1_Silent_p.G231G|COL8A2_ENST00000303143.4_Silent_p.G296G P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 296 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCCCTTTGGCCCCTGATGGGC 0.706000 16 40 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38560808 38560808 + Missense_Mutation SNP G G C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr21:38560808G>C ENST00000399017.2 + 39 7683 c.4936G>C c.(4936-4938)Gaa>Caa p.E1646Q TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.E1646Q|TTC3_ENST00000354749.2_Missense_Mutation_p.E1646Q NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1646 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) ATCCGTACTTGAAAACTGGAA 0.393000 15 30 0 0 1 0 0 BTBD8 284697 broad.mit.edu 37 1 92604962 92604962 + Missense_Mutation SNP G G T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr1:92604962G>T ENST00000370382.3 + 6 1075 c.808G>T c.(808-810)Gac>Tac p.D270Y BTBD8_ENST00000342818.3_Missense_Mutation_p.D270Y|BTBD8_ENST00000540648.1_Missense_Mutation_p.D270Y Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 270 BTB 2. nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) AGGAACTCTGGACATTCCAGA 0.303000 21 44 1.87028e-06 2.04381e-06 1 1 0 PDE7B 27115 broad.mit.edu 37 6 136476804 136476804 + Silent SNP C C T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr6:136476804C>T ENST00000308191.6 + 8 922 c.619C>T c.(619-621)Ctg>Ttg p.L207L RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA NM_018945.3 NP_061818.1 Q9NP56 PDE7B_HUMAN phosphodiesterase 7B 207 Catalytic (By similarity). signal transduction|synaptic transmission cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Colorectal(23;0.24) OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147) Dyphylline(DB00651)|Ketotifen(DB00920) CATGCTTGGACTGCTGGCTGC 0.448000 23 28 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496736 20496736 + RNA SNP C C G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr15:20496736C>G ENST00000555186.1 + 0 789 NR_038836.1 ACTCTGTCATCTTTCTTTTCT 0.393000 6 24 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104641958 104641958 + Missense_Mutation SNP A A T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr14:104641958A>T ENST00000315264.7 + 11 2794 c.2416A>T c.(2416-2418)Agg>Tgg p.R806W KIF26A_ENST00000423312.2_Missense_Mutation_p.R945W Q9ULI4 KI26A_HUMAN kinesin family member 26A 945 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GAGTGGAGGCAGGAGGCCACT 0.667000 10 14 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71482572 71482572 + Silent SNP C C T rs111766097 byFrequency TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr5:71482572C>T ENST00000296755.7 + 4 799 c.501C>T c.(499-501)acC>acT p.T167T NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 167 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AGATTTTCACCGATCAAGAGG 0.493000 42 17 0 0 1 0 0 ZC3H15 55854 broad.mit.edu 37 2 187359982 187359982 + Missense_Mutation SNP A A G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr2:187359982A>G ENST00000337859.6 + 2 325 c.98A>G c.(97-99)aAt>aGt p.N33S ZC3H15_ENST00000544130.1_5'UTR|ZC3H15_ENST00000468120.1_3'UTR NM_018471.2 NP_060941.2 Q8WU90 ZC3HF_HUMAN zinc finger CCCH-type containing 15 33 cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) GGTTTGAAGAATAAGAAAGGA 0.323000 12 18 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179077872 179077872 + Missense_Mutation SNP T T A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr1:179077872T>A ENST00000502732.1 - 12 2733 c.2530A>T c.(2530-2532)Agc>Tgc p.S844C ABL2_ENST00000504405.1_Missense_Mutation_p.S705C|ABL2_ENST00000408940.3_Missense_Mutation_p.S808C|ABL2_ENST00000512653.1_Missense_Mutation_p.S829C|ABL2_ENST00000367623.4_Missense_Mutation_p.S823C|ABL2_ENST00000344730.3_Missense_Mutation_p.S726C|ABL2_ENST00000511413.1_Missense_Mutation_p.S741C|ABL2_ENST00000507173.1_Missense_Mutation_p.S720C NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 844 F-actin-binding (By similarity).|Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CTCTCCCTGCTTGGAGCAGCA 0.522000 T ETV6 AML 53 57 0 0 1 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789862 6789862 + Silent SNP G G A rs145583606 by1000genomes TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr11:6789862G>A ENST00000338569.2 - 1 424 c.327C>T c.(325-327)agC>agT p.S109S NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S109S(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGTCCTCAGCGCTACCCATTG 0.522000 18 43 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 125 0 0 1 0 0 MTRR 4552 broad.mit.edu 37 5 7892899 7892899 + Missense_Mutation SNP C C G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr5:7892899C>G ENST00000264668.2 + 11 1541 c.1511C>G c.(1510-1512)tCt>tGt p.S504C MTRR_ENST00000440940.2_Missense_Mutation_p.S477C NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 504 FAD-binding FR-type. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding p.S504F(1) NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) GAATTTCTGTCTACTGCCACA 0.438000 5 132 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713010 70713010 + RNA SNP T T C rs148589381 by1000genomes TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr14:70713010T>C ENST00000530196.1 - 0 1508 NR_003951.1 ATGGCATGAATTTGCAGTCTT 0.478000 8 48 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 154022739 154022739 + Missense_Mutation SNP T T A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr3:154022739T>A ENST00000496811.1 - 8 1071 c.991A>T c.(991-993)Atc>Ttc p.I331F DHX36_ENST00000308361.6_Missense_Mutation_p.I331F|DHX36_ENST00000329463.5_Missense_Mutation_p.I331F|DHX36_ENST00000544526.1_Missense_Mutation_p.I331F NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 331 Helicase ATP-binding. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TCAAGTACGATATGACTAACA 0.294000 18 18 0 0 1 0 0 PAQR7 164091 broad.mit.edu 37 1 26189386 26189386 + Missense_Mutation SNP A A C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr1:26189386A>C ENST00000374296.3 - 2 1611 c.945T>G c.(943-945)ttT>ttG p.F315L RP1-125I3.2_ENST00000455431.1_RNA NM_178422.5 NP_848509.1 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 315 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) AGAGGCCAGAAAAGTTGTGAG 0.592000 35 63 0 0 1 0 0 FAM21C 253725 broad.mit.edu 37 10 46250521 46250521 + Missense_Mutation SNP G G A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr10:46250521G>A ENST00000336378.4 + 15 1496 c.1378G>A c.(1378-1380)Gac>Aac p.D460N FAM21C_ENST00000537517.1_Missense_Mutation_p.D436N|FAM21C_ENST00000540872.1_Missense_Mutation_p.D460N|FAM21C_ENST00000359860.4_Missense_Mutation_p.D404N|FAM21C_ENST00000374362.2_Missense_Mutation_p.D460N NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 460 central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 tgatgatgatgacgaCTTTTT 0.498000 3 18 0 0 1 0 0 ACTR1A 10121 broad.mit.edu 37 10 104250323 104250323 + Silent SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr10:104250323T>C ENST00000369905.4 - 2 159 c.96A>G c.(94-96)aaA>aaG p.K32K ACTR1A_ENST00000446605.2_Intron|ACTR1A_ENST00000545684.1_5'UTR|ACTR1A_ENST00000487599.1_Silent_p.K32K NM_005736.3 NP_005727.1 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) 32 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 13 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) GAAAGCAGTATTTGGGGATCT 0.458000 15 41 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2408368 2408368 + Silent SNP C C T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chrX:2408368C>T ENST00000381223.4 - 2 596 c.393G>A c.(391-393)ctG>ctA p.L131L ZBED1_ENST00000381218.3_Silent_p.L131L|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.L131L NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 131 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGATGAGGCCCAGCACGGCGG 0.697000 39 19 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68999986 68999986 + Silent SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr8:68999986T>C ENST00000288368.4 + 19 2332 c.2055T>C c.(2053-2055)gaT>gaC p.D685D PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 685 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 ATTCAGCTGATGGACTTGGCT 0.438000 52 110 0 0 1 0 0 DGCR14 8220 broad.mit.edu 37 22 19127410 19127410 + Silent SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr22:19127410T>C ENST00000252137.6 - 4 571 c.528A>G c.(526-528)gcA>gcG p.A176A NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 176 nervous system development catalytic step 2 spliceosome breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) AAGCGTGGCGTGCCCGGCTTC 0.602000 83 123 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47455799 47455799 + Silent SNP A A G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr3:47455799A>G ENST00000265565.5 - 22 3877 c.3465T>C c.(3463-3465)caT>caC p.H1155H SCAP_ENST00000441517.2_Silent_p.H899H|SCAP_ENST00000545718.1_Silent_p.H762H NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 1155 Interaction with SREBF2 (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GAGCAAACACATGGCTGACCC 0.602000 34 13 0 0 1 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812774 31812774 + Silent SNP G G T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr21:31812774G>T ENST00000334067.3 + 1 178 c.129G>T c.(127-129)ctG>ctT p.L43L NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 43 L -> M (in dbSNP:rs2832873). intermediate filament p.L43L(1) kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 CCTGCCAACTGGGCTCCTCTC 0.488000 38 34 1.57351e-24 1.79347e-24 1 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798145 55798145 + Missense_Mutation SNP A A T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr11:55798145A>T ENST00000313555.1 + 1 251 c.251A>T c.(250-252)aAc>aTc p.N84I NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) ATGCTGGCAAACTTCTTGGCA 0.398000 15 18 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 172 0 0 1 0 0 USP3 9960 broad.mit.edu 37 15 63866570 63866570 + Missense_Mutation SNP A A T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr15:63866570A>T ENST00000268049.7 + 12 1322 c.998A>T c.(997-999)aAt>aTt p.N333I USP3_ENST00000558285.1_Missense_Mutation_p.N338I|USP3_ENST00000539772.1_Missense_Mutation_p.N106I|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.N355I|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.N266I|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.N311I|USP3_ENST00000536001.1_3'UTR Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 355 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) CGCTCTAAGAATCAAGAAAAT 0.323000 15 29 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 3 27 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131519912 131519912 + Silent SNP G G A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr2:131519912G>A ENST00000423981.1 + 2 377 c.267G>A c.(265-267)gtG>gtA p.V89V AMER3_ENST00000321420.4_Silent_p.V89V NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 TCAAACCGGTGCGAAAGTGCA 0.662000 8 19 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6751021 6751021 + Missense_Mutation SNP A A G rs79417223 TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr20:6751021A>G ENST00000378827.4 + 2 1467 c.248A>G c.(247-249)tAt>tGt p.Y83C NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 83 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) CTAGACCTGTATCGCAGGCAC 0.647000 13 33 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42605671 42605671 + Missense_Mutation SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr22:42605671T>C ENST00000359486.3 - 1 5777 c.5641A>G c.(5641-5643)Ata>Gta p.I1881V TCF20_ENST00000335626.4_Missense_Mutation_p.I1881V|TCF20_ENST00000404876.1_Missense_Mutation_p.I182V NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1881 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TCTCTGGCTATTTCCAGCGCT 0.433000 72 99 0 0 1 0 0 FAM21C 253725 broad.mit.edu 37 10 46250493 46250493 + Silent SNP C C G rs28673841 TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr10:46250493C>G ENST00000336378.4 + 15 1468 c.1350C>G c.(1348-1350)ctC>ctG p.L450L FAM21C_ENST00000537517.1_Silent_p.L426L|FAM21C_ENST00000540872.1_Silent_p.L450L|FAM21C_ENST00000359860.4_Silent_p.L394L|FAM21C_ENST00000374362.2_Silent_p.L450L NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 450 central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 CCACTGGCCTCTTtgatgatg 0.522000 8 25 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2732289 2732289 + Missense_Mutation SNP G G T rs150408627 by1000genomes TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr18:2732289G>T ENST00000320876.6 + 25 3413 c.3075G>T c.(3073-3075)gaG>gaT p.E1025D SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1025D|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1025 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 CACCTGTGGAGAAGACTATTA 0.373000 28 49 1.32003e-05 1.42779e-05 1 1 0 KIF15 56992 broad.mit.edu 37 3 44856411 44856411 + Missense_Mutation SNP A A G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr3:44856411A>G ENST00000326047.4 + 20 2541 c.2392A>G c.(2392-2394)Agt>Ggt p.S798G KIF15_ENST00000425755.1_Missense_Mutation_p.S433G NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 798 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) AGTTTTGAAAAGTGAGGTACA 0.353000 30 11 0 0 1 0 0 PLEKHG7 440107 broad.mit.edu 37 12 93150134 93150134 + Missense_Mutation SNP C C G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr12:93150134C>G ENST00000344636.3 + 8 851 c.667C>G c.(667-669)Cac>Gac p.H223D NM_001004330.2 NP_001004330.1 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 7 223 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1) 17 AACCAGCAGACACCTTCTCTA 0.368000 13 47 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13701485 13701485 + Missense_Mutation SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr10:13701485T>C ENST00000357447.2 - 21 2272 c.1904A>G c.(1903-1905)cAc>cGc p.H635R FRMD4A_ENST00000358621.4_Missense_Mutation_p.H620R|FRMD4A_ENST00000378503.1_Missense_Mutation_p.H635R NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 635 Ser-rich. cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 GAAGCGCTTGTGGCTGCTGCA 0.632000 17 58 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220354174 220354174 + Missense_Mutation SNP C C A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr2:220354174C>A ENST00000312358.7 + 36 8566 c.8434C>A c.(8434-8436)Ccc>Acc p.P2812T AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2812 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TCCTGCTGCCCCCACACCCCC 0.672000 59 61 1.93748e-29 2.25684e-29 1 1 0 MFSD3 113655 broad.mit.edu 37 8 145734848 145734848 + Silent SNP G G A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr8:145734848G>A ENST00000301327.4 + 1 392 c.132G>A c.(130-132)aaG>aaA p.K44K NM_138431.1 NP_612440.1 Q96ES6 MFSD3_HUMAN major facilitator superfamily domain containing 3 44 Leu-rich. transmembrane transport integral to membrane central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GGCTGGCCAAGGTTCTGTACG 0.736000 3 4 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124859003 124859003 + Missense_Mutation SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr12:124859003T>C ENST00000356219.3 - 20 2329 c.2174A>G c.(2173-2175)cAt>cGt p.H725R NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000405201.1_Missense_Mutation_p.H725R|NCOR2_ENST00000429285.2_Intron|NCOR2_ENST00000404121.2_Intron NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 725 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) cccagaggcatgtaaggctgg 0.647000 18 11 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197641346 197641346 + Silent SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr2:197641346T>C ENST00000263956.3 - 11 1487 c.1398A>G c.(1396-1398)ttA>ttG p.L466L NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 466 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CTAAGGCCTTTAAACATTCTA 0.378000 8 75 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130185052 130185052 + Missense_Mutation SNP G G A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr12:130185052G>A ENST00000422113.2 - 2 597 c.271C>T c.(271-273)Cct>Tct p.P91S NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 91 integral to membrane p.P91S(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTGAGGACAGGCAGCCTCCTG 0.512000 17 37 0 0 1 0 0 IGKV3D-11 28876 broad.mit.edu 37 2 90212076 90212076 + RNA SNP C C A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr2:90212076C>A ENST00000390277.2 + 0 265 TAGCCTGGTACCAGCAGAAAC 0.597000 50 99 2.68985e-26 3.09918e-26 1 1 0 CYP4A11 1579 broad.mit.edu 37 1 47398680 47398680 + Missense_Mutation SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr1:47398680T>C ENST00000310638.4 - 10 1293 c.1262A>G c.(1261-1263)aAc>aGc p.N421S CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000371904.4_Missense_Mutation_p.N422S|CYP4A11_ENST00000371905.1_Missense_Mutation_p.N421S NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 421 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) CACTTTTGGGTTGTGGTGAAG 0.517000 12 391 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165792844 165792844 + Missense_Mutation SNP G G C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr6:165792844G>C ENST00000366882.1 - 19 1948 c.1794C>G c.(1792-1794)caC>caG p.H598Q PDE10A_ENST00000354448.4_Missense_Mutation_p.H598Q|PDE10A_ENST00000539869.2_Missense_Mutation_p.H608Q Q9Y233 PDE10_HUMAN phosphodiesterase 10A 598 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) AGAAGATATTGTGCCCTTCCA 0.378000 20 33 0 0 1 0 0 TSPAN3 10099 broad.mit.edu 37 15 77346572 77346572 + Missense_Mutation SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr15:77346572T>C ENST00000267970.4 - 4 653 c.380A>G c.(379-381)aAt>aGt p.N127S TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000559494.1_Missense_Mutation_p.N38S|TSPAN3_ENST00000424443.3_Missense_Mutation_p.N63S|TSPAN3_ENST00000346495.2_Missense_Mutation_p.N102S|TSPAN3_ENST00000558745.1_5'UTR|TSPAN3_ENST00000561277.1_5'UTR NM_001168412.1|NM_005724.5|NM_198902.2 NP_001161884.1|NP_005715.1|NP_944492.1 O60637 TSN3_HUMAN tetraspanin 3 127 integral to membrane kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 10 all cancers(203;1.14e-19) GTTGGTTCCATTGTAGGTCTT 0.413000 24 32 0 0 1 0 0 UST 10090 broad.mit.edu 37 6 149395184 149395184 + Missense_Mutation SNP A A G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr6:149395184A>G ENST00000367463.4 + 8 1256 c.1153A>G c.(1153-1155)Acc>Gcc p.T385A UST_ENST00000466695.1_3'UTR NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 385 protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) TCCACTGGAAACCGAGGAGCC 0.488000 5 75 0 0 1 0 0 ACTN4 81 broad.mit.edu 37 19 39214357 39214357 + Missense_Mutation SNP C C A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr19:39214357C>A ENST00000252699.2 + 13 1622 c.1546C>A c.(1546-1548)Ctg>Atg p.L516M ACTN4_ENST00000424234.2_Missense_Mutation_p.L126M|ACTN4_ENST00000390009.3_Missense_Mutation_p.L297M NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 516 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CAGGGAAGCCCTGGAGGTGAG 0.627000 6 8 0.00116845 0.00121427 1 1 0 ANKHD1 54882 broad.mit.edu 37 5 139819838 139819838 + Missense_Mutation SNP A A G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr5:139819838A>G ENST00000297183.6 + 4 876 c.752A>G c.(751-753)tAt>tGt p.Y251C ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.Y251C|ANKHD1_ENST00000360839.2_Missense_Mutation_p.Y251C|ANKHD1_ENST00000394722.3_Missense_Mutation_p.Y240C|ANKHD1_ENST00000394723.3_Missense_Mutation_p.Y251C NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGGGTATTATGAATTAGCA 0.323000 42 23 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2463924 2463924 + Silent SNP T T C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr20:2463924T>C ENST00000278772.4 - 6 2170 c.1683A>G c.(1681-1683)aaA>aaG p.K561K RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 GGAGGAGTGATTTCCGGCTAA 0.502000 29 47 0 0 1 0 0 FAM45A 404636 broad.mit.edu 37 10 120889085 120889085 + Silent SNP G G A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr10:120889085G>A ENST00000361432.2 + 7 779 c.753G>A c.(751-753)gtG>gtA p.V251V FAM45A_ENST00000544016.1_Silent_p.V100V|FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000535029.1_3'UTR NM_207009.2 NP_996892.1 Q8TCE6 FA45A_HUMAN family with sequence similarity 45, member A 251 breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) TCTATGATGTGTTTGTGAATC 0.433000 13 30 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108488115 108488115 + Nonsense_Mutation SNP G G T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr2:108488115G>T ENST00000408999.3 + 20 3732 c.3655G>T c.(3655-3657)Gaa>Taa p.E1219* RGPD4_ENST00000354986.4_Nonsense_Mutation_p.E1219* NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1219 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AGTCACTGAGGAAGAAAATAA 0.423000 7 185 1.58986e-06 1.75547e-06 1 1 0 GPR128 84873 broad.mit.edu 37 3 100413810 100413810 + Missense_Mutation SNP C C G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr3:100413810C>G ENST00000273352.3 + 16 2627 c.2359C>G c.(2359-2361)Ctc>Gtc p.L787V GPR128_ENST00000475887.1_Missense_Mutation_p.L492V|GPR128_ENST00000481506.1_3'UTR NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 787 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 GGAAATCACACTCTCTGAAAG 0.413000 25 53 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137801398 137801398 + Missense_Mutation SNP A A T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr7:137801398A>T ENST00000242375.3 + 9 1013 c.971A>T c.(970-972)gAt>gTt p.D324V AKR1D1_ENST00000411726.2_Missense_Mutation_p.D283V|AKR1D1_ENST00000432161.1_3'UTR|AKR1D1_ENST00000468877.2_3'UTR NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 324 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 CCATTTCATGATGAATACTGA 0.448000 30 33 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132393211 132393211 + Missense_Mutation SNP C C A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr12:132393211C>A ENST00000321867.4 + 6 690 c.339C>A c.(337-339)gaC>gaA p.D113E NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 113 Protein kinase. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TGAGCGAGGACACCATCAGGC 0.677000 6 13 0.00116845 0.00121427 1 1 0 ZNF546 339327 broad.mit.edu 37 19 40504315 40504315 + Missense_Mutation SNP A A G TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr19:40504315A>G ENST00000347077.4 + 3 298 c.82A>G c.(82-84)Atg>Gtg p.M28V ZNF546_ENST00000600094.1_Intron|ZNF546_ENST00000596894.1_Intron NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 28 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) ACTTTCTATAATGGTAGAGAA 0.388000 5 28 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113516155 113516155 + Missense_Mutation SNP G G T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr8:113516155G>T ENST00000297405.5 - 30 5191 c.4947C>A c.(4945-4947)gaC>gaA p.D1649E CSMD3_ENST00000455883.2_Missense_Mutation_p.D1545E|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1609E|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1649E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1649 CUB 9. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGCTATTACTGTCTGGTCCAT 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 37 5.26018e-13 5.93169e-13 1 1 0 TMEM200A 114801 broad.mit.edu 37 6 130762093 130762093 + Missense_Mutation SNP A A C TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr6:130762093A>C ENST00000392429.1 + 2 2904 c.526A>C c.(526-528)Aag>Cag p.K176Q TMEM200A_ENST00000545622.1_Missense_Mutation_p.K176Q|TMEM200A_ENST00000296978.3_Missense_Mutation_p.K176Q NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 176 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GCTAAGAATCAAGGAGCAAAG 0.428000 27 51 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53600715 53600715 + Nonsense_Mutation SNP T T A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chrX:53600715T>A ENST00000342160.3 - 46 6764 c.6307A>T c.(6307-6309)Aaa>Taa p.K2103* HUWE1_ENST00000262854.6_Nonsense_Mutation_p.K2103* Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 2103 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ATTACCTCTTTGATCAGTTCA 0.458000 16 29 0 0 1 0 0 HERC6 55008 broad.mit.edu 37 4 89314703 89314703 + Missense_Mutation SNP G G A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr4:89314703G>A ENST00000380265.5 + 5 911 c.728G>A c.(727-729)tGt>tAt p.C243Y HERC6_ENST00000264346.7_Missense_Mutation_p.C243Y|HERC6_ENST00000273960.3_Missense_Mutation_p.C243Y NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 243 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) TATATCAGCTGTGGTGATGCA 0.403000 5 13 0 0 1 0 0 GDF3 9573 broad.mit.edu 37 12 7842783 7842783 + Silent SNP G G A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr12:7842783G>A ENST00000329913.3 - 2 833 c.786C>T c.(784-786)aaC>aaT p.N262N NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 262 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 GGTGGCAGAGGTTCTTACAAG 0.537000 42 58 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr1:160589601delT ENST00000302035.6 - 5 1178 c.829delA c.(829-831)gcfs p.S277fs SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000538290.1_Intron NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 277 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATCGTAAGGCTTTTTTTTTCC 0.433 8 155 --- --- --- --- COL26A1 136227 broad.mit.edu 37 7 101183401 101183401 + RNA DEL C C - TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr7:101183401delC ENST00000313669.7 + 0 796 COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 CCCAGGGCCTCCCTAGAGAGG 0.557 8 9 --- --- --- --- P4HA1 5033 broad.mit.edu 37 10 74813231 74813232 + Frame_Shift_Del DEL AG AG - TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr10:74813231_74813232delAG ENST00000412021.2 - 7 913_914 c.580_581delCT c.(580-582)gfs p.L194fs P4HA1_ENST00000307116.2_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000440381.1_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000373008.2_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000394890.2_Frame_Shift_Del_p.L194fs|P4HA1_ENST00000263556.3_Frame_Shift_Del_p.L194fs NM_001142595.1 NP_001136067.1 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha polypeptide I 194 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) GCCTTCATCCAGTTGCCTTAGG 0.446 49 71 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49447385 49447385 + Frame_Shift_Del DEL A A - TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr12:49447385delA ENST00000301067.7 - 6 712 c.713delT c.(712-714)tgfs p.L238fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CAGGTCACACAACTCCCCTGG 0.597 9 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7576862 7576863 + Frame_Shift_Ins INS - - A TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed0da491-dc84-4ed1-8339-e12bf5c9503f ac306330-1113-45d8-bb1f-029bc54aff50 g.chr17:7576862_7576863insA ENST00000420246.2 - 9 1115_1116 c.983_984insT c.(982-984)tacfs p.Y328fs TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.Y328fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 328 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.T329fs*8(3)|p.F328F(1)|p.T329fs*21(1)|p.F328S(1)|p.?(1)|p.F328fs*9(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTGAAGGGTGAAATATTCTCC 0.441 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 90 22 --- --- --- ---