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 PTPN2 5771 broad.mit.edu 37 18 12817283 12817283 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr18:12817283G>A ENST00000309660.5 - 6 670 c.577C>T c.(577-579)Ctc>Ttc p.L193F PTPN2_ENST00000353319.4_Missense_Mutation_p.L193F|PTPN2_ENST00000327283.3_Missense_Mutation_p.L193F|PTPN2_ENST00000591497.1_Missense_Mutation_p.L164F|PTPN2_ENST00000591115.1_Missense_Mutation_p.L216F NM_002828.3 NP_002819.2 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 2 193 Tyrosine-protein phosphatase. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3) 13 Lung NSC(161;8.94e-06) AAGAAATTGAGAAATGAAGCT 0.453000 19 64 0 0 0.008871 0 0 CCDC57 284001 broad.mit.edu 37 17 80129690 80129690 + Missense_Mutation SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:80129690T>C ENST00000392347.1 - 12 1805 c.1769A>G c.(1768-1770)aAg>aGg p.K590R CCDC57_ENST00000392343.3_Missense_Mutation_p.K590R|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Missense_Mutation_p.K590R NM_198082.2 NP_932348.2 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 590 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) AAACTTATGCTTTAGAGTTCG 0.448000 19 68 0 0 0.008871 0 0 DAAM1 23002 broad.mit.edu 37 14 59798071 59798071 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr14:59798071C>G ENST00000395125.1 + 13 1728 c.1705C>G c.(1705-1707)Ctc>Gtc p.L569V DAAM1_ENST00000351081.1_Missense_Mutation_p.L569V|DAAM1_ENST00000360909.3_Missense_Mutation_p.L569V NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 569 FH1.|Pro-rich. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) accgcctcccctccctccagg 0.642000 8 19 0 0 0.006214 0 0 NT5C1B 93034 broad.mit.edu 37 2 18767631 18767631 + Silent SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:18767631C>T ENST00000304081.4 - 3 247 c.147G>A c.(145-147)aaG>aaA p.K49K NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000600945.1_Silent_p.K109K|NT5C1B_ENST00000359846.2_Silent_p.K109K|NT5C1B-RDH14_ENST00000532967.1_Silent_p.K109K NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GAGAGTCTGTCTTCCGCAGTG 0.498000 6 46 0 0 0.021553 0 0 TSGA10 80705 broad.mit.edu 37 2 99726007 99726007 + Translation_Start_Site SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:99726007T>C ENST00000410001.1 - 0 523 TSGA10_ENST00000393483.3_Intron|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Intron|TSGA10_ENST00000542655.1_Intron|TSGA10_ENST00000539964.1_De_novo_Start_OutOfFrame Q9BZW7 TSG10_HUMAN testis specific, 10 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 GCTTTTTCAGTATCTAAAATT 0.318000 6 13 0 0 0.021553 0 0 AGRN 375790 broad.mit.edu 37 1 982024 982024 + Silent SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:982024G>A ENST00000379370.2 + 18 3209 c.3159G>A c.(3157-3159)gtG>gtA p.V1053V NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1053 Ser/Thr-rich. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCAGCCTGGTGGCGTCCGCCT 0.687000 11 10 0 0 0.008291 0 0 CHD6 84181 broad.mit.edu 37 20 40040857 40040857 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr20:40040857G>C ENST00000373233.3 - 36 7355 c.7178C>G c.(7177-7179)cCt>cGt p.P2393R CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2393 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TAATTTTCCAGGTTCTTTACA 0.488000 11 70 0 0 0.010729 0 0 PURB 5814 broad.mit.edu 37 7 44924294 44924294 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:44924294C>A ENST00000395699.2 - 1 666 c.654G>T c.(652-654)gaG>gaT p.E218D NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 218 Gly-rich. regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 CCTCCGGGAGCTCTCCATACA 0.667000 14 50 4.3838e-07 4.76886e-07 0.016723 1 0 CHST9 83539 broad.mit.edu 37 18 24497019 24497019 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr18:24497019C>A ENST00000284224.8 - 6 813 c.536G>T c.(535-537)aGg>aTg p.R179M AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Missense_Mutation_p.R179M|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA NM_031422.5 NP_113610.2 Q7L1S5 CHST9_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 179 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) AAGGAAAGACCTTCGTTTCTC 0.383000 17 82 1.15088e-07 1.26048e-07 0.028581 1 0 NMNAT1 64802 broad.mit.edu 37 1 10042404 10042404 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:10042404C>T ENST00000377205.1 + 5 629 c.485C>T c.(484-486)tCc>tTc p.S162F NM_022787.3 NP_073624.2 Q9HAN9 NMNA1_HUMAN nicotinamide nucleotide adenylyltransferase 1 162 water-soluble vitamin metabolic process nucleoplasm ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding large_intestine(2)|lung(2)|stomach(1) 5 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419) TTATTGGAGTCCTTTGCTGTT 0.478000 24 87 0 0 0.021523 0 0 RGS17 26575 broad.mit.edu 37 6 153347672 153347672 + Silent SNP A A T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:153347672A>T ENST00000367225.2 - 2 150 c.126T>A c.(124-126)acT>acA p.T42T RGS17_ENST00000206262.1_Silent_p.T42T Q9UGC6 RGS17_HUMAN regulator of G-protein signaling 17 42 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 14 Ovarian(120;0.126) OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429) CATTCCTCACAGTGAGGCTGT 0.403000 26 59 0 0 0.021523 0 0 TAZ 6901 broad.mit.edu 37 X 153649016 153649016 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:153649016G>A ENST00000299328.5 + 10 1008 c.719G>A c.(718-720)gGg>gAg p.G240E TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000369790.4_Missense_Mutation_p.G196E|TAZ_ENST00000350743.4_Missense_Mutation_p.G210E|TAZ_ENST00000351413.4_Missense_Mutation_p.G226E|TAZ_ENST00000369776.4_Missense_Mutation_p.G210E NM_000116.3 NP_000107.1 Q16635 TAZ_HUMAN tafazzin 240 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity lung(1) 1 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTGCTGATCGGGAAGCCCTTC 0.642000 18 19 0 0 0.038395 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102825898 102825898 + RNA SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:102825898C>G ENST00000312132.4 - 0 3799 AAGTCTGCATCTTCGTAATGT 0.418000 3 24 0 0 0.009096 0 0 KLRC4-KLRK1 100528032 broad.mit.edu 37 12 10560266 10560266 + Missense_Mutation SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:10560266T>C ENST00000539300.1 - 4 436 c.437A>G c.(436-438)gAt>gGt p.D146G KLRC4_ENST00000309384.1_Missense_Mutation_p.I155V AGAAAGCAGATCAGAGTTCTT 0.343000 56 109 0 0 0.014410 0 0 ATP13A4 84239 broad.mit.edu 37 3 193175175 193175175 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:193175175G>C ENST00000342695.4 - 15 2076 c.1754C>G c.(1753-1755)gCc>gGc p.A585G ATP13A4_ENST00000392443.3_Missense_Mutation_p.A566G NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 585 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) TACCTGGCTGGCTGTTCTGCA 0.483000 19 281 0 0 0.016522 0 0 GSTO1 9446 broad.mit.edu 37 10 106027062 106027062 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:106027062G>A ENST00000539281.1 + 6 897 c.541G>A c.(541-543)Gat>Aat p.D181N GSTO1_ENST00000369710.4_Missense_Mutation_p.D176N|GSTO1_ENST00000369713.5_Missense_Mutation_p.D209N NM_001191003.1 NP_001177932.1 P78417 GSTO1_HUMAN glutathione S-transferase omega 1 209 GST C-terminal. xenobiotic metabolic process cytosol glutathione transferase activity|monodehydroascorbate reductase (NADH) activity large_intestine(1)|lung(1)|stomach(1) 3 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147) Glutathione(DB00143) CATGAAGGAAGATCCCACAGT 0.493000 15 30 0 0 0.020292 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702586 27702586 + Silent SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:27702586G>A ENST00000438700.3 - 1 711 c.594C>T c.(592-594)tcC>tcT p.S198S NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 198 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TCCTGGAGGCGGAGAAGCGGT 0.602000 4 131 0 0 0.014758 0 0 LMTK2 22853 broad.mit.edu 37 7 97816267 97816267 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:97816267G>A ENST00000297293.5 + 9 1248 c.955G>A c.(955-957)Gac>Aac p.D319N NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 319 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CAGCTTTCAAGACAGACTGCT 0.373000 11 100 0 0 0.010729 0 0 ECT2L 345930 broad.mit.edu 37 6 139223693 139223693 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:139223693G>A ENST00000423192.1 + 21 2805 c.2644G>A c.(2644-2646)Gaa>Aaa p.E882K ECT2L_ENST00000367682.2_Missense_Mutation_p.E882K|ECT2L_ENST00000541398.1_Missense_Mutation_p.E736K Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 882 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TTGTGCTACAGAAATAGAGGA 0.368000 """N, Splice, Mis""" ETP ALL 12 37 0 0 0.010729 0 0 DMD 1756 broad.mit.edu 37 X 31497125 31497125 + Silent SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:31497125T>C ENST00000357033.4 - 58 8849 c.8643A>G c.(8641-8643)ctA>ctG p.L2881L DMD_ENST00000343523.2_Silent_p.L421L|DMD_ENST00000359836.1_Silent_p.L421L|DMD_ENST00000474231.1_Silent_p.L421L|DMD_ENST00000378707.3_Silent_p.L421L|DMD_ENST00000541735.1_Silent_p.L421L|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378677.2_Silent_p.L2877L NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2881 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AGAGTTTCTCTAGTCCTTCCA 0.428000 14 9 0 0 0.020292 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212225 26212225 + Missense_Mutation SNP G G T rs140212002 TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:26212225G>T ENST00000379034.1 + 2 411 c.262G>T c.(262-264)Ggc>Tgc p.G88C NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 88 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GGCTGCCAACGGCCAAGATGA 0.542000 10 18 2.80697e-09 3.1603e-09 0.010729 1 0 THAP9-AS1 100499177 broad.mit.edu 37 4 83821880 83821880 + RNA SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr4:83821880C>G ENST00000504520.2 - 0 233 NR_034076.1 GCCGCAGAGTCAACGGGCGGA 0.607000 14 24 0 0 0.020292 0 0 KCNH3 23416 broad.mit.edu 37 12 49934900 49934900 + Silent SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:49934900C>T ENST00000257981.6 + 2 555 c.295C>T c.(295-297)Ctg>Ttg p.L99L KCNH3_ENST00000550434.1_3'UTR NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 99 PAC. regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 TGAGCTGATCCTGTACCGGAA 0.622000 5 45 0 0 0.014758 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202915728 202915728 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:202915728C>T ENST00000340990.5 - 4 567 c.269G>A c.(268-270)gGa>gAa p.G90E ADIPOR1_ENST00000436244.1_Missense_Mutation_p.G90E|ADIPOR1_ENST00000367254.3_Missense_Mutation_p.G90E NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 90 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) CCTCCAACGTCCCTCCCAGAC 0.502000 9 44 0 0 0.006214 0 0 RFNG 5986 broad.mit.edu 37 17 80007651 80007651 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:80007651C>T ENST00000310496.4 - 6 737 c.730G>A c.(730-732)Gtg>Atg p.V244M RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Missense_Mutation_p.V118M NM_002917.1 NP_002908.1 Q9Y644 RFNG_HUMAN RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 244 cell differentiation|nervous system development|organ morphogenesis|pattern specification process extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) AGCCCCTCCACGATGTAGCCA 0.667000 7 18 0 0 0.006214 0 0 ZNF768 79724 broad.mit.edu 37 16 30537662 30537662 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:30537662C>G ENST00000380412.5 - 1 248 c.73G>C c.(73-75)Gaa>Caa p.E25Q ZNF768_ENST00000562803.1_Intron|ZNF747_ENST00000569360.1_Intron|ZNF747_ENST00000535210.1_Intron NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 25 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 AGGTACCCTTCGGGGCTCCTC 0.711000 4 22 0 0 0.009096 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 4 27 0 0 0.029380 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72056924 72056924 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:72056924C>A ENST00000378743.3 - 1 825 c.467G>T c.(466-468)cGc>cTc p.R156L THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.R156L|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.R156L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 156 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CCGACTCCAGCGACTCCCACC 0.667000 13 126 0.000308642 0.00032478 0.024245 1 0 RNF133 168433 broad.mit.edu 37 7 122338545 122338545 + Missense_Mutation SNP A A C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:122338545A>C ENST00000340112.2 - 1 665 c.428T>G c.(427-429)tTt>tGt p.F143C CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 143 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 TGCCTGATGAAACATGGGGAA 0.423000 32 58 0 0 0.041601 0 0 ESCO1 114799 broad.mit.edu 37 18 19154819 19154819 + Translation_Start_Site SNP T T A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr18:19154819T>A ENST00000269214.5 - 0 923 NM_052911.2 NP_443143.2 Q5FWF5 ESCO1_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 1 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1) 35 GAGTAATGACTTTCTTTTCTG 0.358000 4 15 0 0 0.009096 0 0 OTOGL 283310 broad.mit.edu 37 12 80623099 80623099 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:80623099C>G ENST00000458043.2 + 7 531 c.525C>G c.(523-525)ttC>ttG p.F175L OTOGL_ENST00000547103.1_Missense_Mutation_p.F175L NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TCAGCTTGTTCTTTTCAAACC 0.358000 9 83 0 0 0.004482 0 0 HTR5A 3361 broad.mit.edu 37 7 154863070 154863070 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:154863070G>A ENST00000287907.2 + 1 1037 c.461G>A c.(460-462)cGc>cAc p.R154H AC093726.4_ENST00000395731.2_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_5'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 154 integral to plasma membrane serotonin receptor activity p.R154H(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CTCCGCACCCGCAAGTGCGTC 0.617000 9 25 0 0 0.006214 0 0 SIL1 64374 broad.mit.edu 37 5 138362615 138362615 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr5:138362615G>C ENST00000394817.2 - 6 659 c.520C>G c.(520-522)Ctg>Gtg p.L174V SIL1_ENST00000265195.5_Missense_Mutation_p.L174V|CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000509534.1_Missense_Mutation_p.L181V NM_022464.4 NP_071909.1 Q9H173 SIL1_HUMAN SIL1 nucleotide exchange factor 174 Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity). intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACAACATTCAGCTCATCAAAG 0.468000 Marinesco-Sjgren syndrome 9 40 0 0 0.006214 0 0 MRPS22 56945 broad.mit.edu 37 3 139067116 139067116 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:139067116G>A ENST00000495075.1 + 5 886 c.454G>A c.(454-456)Gaa>Aaa p.E152K MRPS22_ENST00000478464.1_Missense_Mutation_p.E111K|MRPS22_ENST00000465056.1_Missense_Mutation_p.E151K|MRPS22_ENST00000310776.4_Missense_Mutation_p.E152K P82650 RT22_HUMAN mitochondrial ribosomal protein S22 152 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 GGAAGGAACAGAAACAACCAA 0.363000 38 73 0 0 0.030466 0 0 GCC2 9648 broad.mit.edu 37 2 109088215 109088215 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:109088215G>C ENST00000309863.6 + 6 3144 c.2430G>C c.(2428-2430)gaG>gaC p.E810D NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 810 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 AAGTATTAGAGTTAGAAAAAG 0.363000 18 55 0 0 0.033300 0 0 SHB 6461 broad.mit.edu 37 9 37948721 37948721 + Silent SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr9:37948721G>A ENST00000377707.3 - 5 1822 c.1257C>T c.(1255-1257)gaC>gaT p.D419D RP11-613M10.9_ENST00000540557.1_3'UTR NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 419 SH2. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) GGTTCTCGGCGTCTCCTCTGC 0.607000 7 107 0 0 0.029380 0 0 KRT80 144501 broad.mit.edu 37 12 52566069 52566069 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:52566069C>A ENST00000313234.5 - 7 1188 c.1091G>T c.(1090-1092)cGc>cTc p.R364L KRT80_ENST00000394815.2_Missense_Mutation_p.R364L NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 364 Coil 2.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) CTGGTACTTGCGCAGCTGCCG 0.657000 4 87 0.014758 0.0153293 0.014758 1 0 PURB 5814 broad.mit.edu 37 7 44924293 44924293 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:44924293G>A ENST00000395699.2 - 1 667 c.655C>T c.(655-657)Ctc>Ttc p.L219F NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 219 Gly-rich. regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 CCCTCCGGGAGCTCTCCATAC 0.667000 15 50 0 0 0.020292 0 0 SMC1A 8243 broad.mit.edu 37 X 53421731 53421731 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:53421731C>G ENST00000322213.4 - 19 3067 c.2940G>C c.(2938-2940)gaG>gaC p.E980D NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 980 cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 CGTAGTCAATCTCAATGAGGG 0.542000 4 26 0 0 0.014758 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 5 89 0 0 0.021553 0 0 KLHDC10 23008 broad.mit.edu 37 7 129761910 129761910 + Missense_Mutation SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:129761910A>G ENST00000335420.5 + 5 781 c.647A>G c.(646-648)aAt>aGt p.N216S NM_014997.3 NP_055812.1 Q6PID8 KLD10_HUMAN kelch domain containing 10 216 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1) 17 GCCATCATCAATGGCTCCCTT 0.418000 7 32 0 0 0.029380 0 0 ITGB8 3696 broad.mit.edu 37 7 20441678 20441678 + Missense_Mutation SNP G G T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:20441678G>T ENST00000222573.3 + 10 2300 c.1616G>T c.(1615-1617)gGa>gTa p.G539V ITGB8_ENST00000537992.1_Missense_Mutation_p.G404V NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 539 Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 ATTAAGCTTGGAAAAGTGTAT 0.388000 28 101 5.77227e-19 6.73432e-19 0.037714 1 0 XKRX 402415 broad.mit.edu 37 X 100169656 100169656 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:100169656C>A ENST00000328526.5 - 3 1625 c.1060G>T c.(1060-1062)Gac>Tac p.D354Y XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.D341Y NM_212559.2 NP_997724.2 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, X-linked 341 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3) 22 TGCCCTTTGTCGACGAGATCT 0.478000 60 66 5.08636e-23 5.97741e-23 0.014410 1 0 SHOC2 8036 broad.mit.edu 37 10 112724421 112724421 + Nonsense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:112724421C>G ENST00000369452.4 + 2 650 c.305C>G c.(304-306)tCa>tGa p.S102* SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Nonsense_Mutation_p.S102* NM_007373.3 NP_031399.2 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog (C. elegans) 102 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) GAAGAGAATTCAATGCGTTTG 0.383000 16 63 0 0 0.028581 0 0 SLC9A2 6549 broad.mit.edu 37 2 103321047 103321047 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:103321047G>C ENST00000233969.2 + 10 2032 c.1890G>C c.(1888-1890)gaG>gaC p.E630D NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 630 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 ACACAAGTGAGAGACAAGCCA 0.428000 5 28 0 0 0.021553 0 0 CLUH 23277 broad.mit.edu 37 17 2604528 2604528 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:2604528C>T ENST00000570628.1 - 7 922 c.817G>A c.(817-819)Gcc>Acc p.A273T CLUH_ENST00000575014.1_Missense_Mutation_p.A205T|CLUH_ENST00000435359.1_Missense_Mutation_p.A273T|CLUH_ENST00000538975.1_Missense_Mutation_p.A273T clustered mitochondria (cluA/CLU1) homolog CGGGGGCTGGCGGGCTTGGGG 0.622000 5 17 0 0 0.014758 0 0 MINK1 50488 broad.mit.edu 37 17 4789867 4789867 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:4789867C>T ENST00000355280.6 + 10 1091 c.895C>T c.(895-897)Cgc>Tgc p.R299C MINK1_ENST00000347992.7_Missense_Mutation_p.R299C|MINK1_ENST00000453408.3_Missense_Mutation_p.R299C NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 299 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 GCGGCAGGTCCGCATCCAGCT 0.602000 20 46 0 0 0.008871 0 0 NCBP2L 392517 broad.mit.edu 37 X 107037501 107037501 + Silent SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:107037501C>T ENST00000372379.1 + 1 51 c.51C>T c.(49-51)agC>agT p.S17S RP5-820B18.3_ENST00000509000.1_RNA nuclear cap binding protein subunit 2-like large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 5 TGGAGCTGAGCTGCTACCGGG 0.473000 14 12 0 0 0.016723 0 0 ZNF367 195828 broad.mit.edu 37 9 99150720 99150720 + Silent SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr9:99150720C>T ENST00000375256.4 - 5 1148 c.852G>A c.(850-852)caG>caA p.Q284Q NM_153695.3 NP_710162.1 Q7RTV3 ZN367_HUMAN zinc finger protein 367 284 regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1) 12 Acute lymphoblastic leukemia(62;0.0167) TGGGGGTGCGCTGCTCTCTCA 0.438000 24 41 0 0 0.016522 0 0 PHF12 57649 broad.mit.edu 37 17 27248731 27248731 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:27248731C>A ENST00000577226.1 - 5 1157 c.811G>T c.(811-813)Gtc>Ttc p.V271F PHF12_ENST00000332830.4_Missense_Mutation_p.V271F|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.V271F Q96QT6 PHF12_HUMAN PHD finger protein 12 271 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CAGACTTTGACGGGTAAGGGA 0.408000 29 73 2.70662e-09 3.06877e-09 0.041601 1 0 ZMYM6 9204 broad.mit.edu 37 1 35476586 35476586 + Nonsense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:35476586G>A ENST00000357182.4 - 9 1341 c.1114C>T c.(1114-1116)Cag>Tag p.Q372* ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q372*|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q372* NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 372 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) ACTTGGCCCTGAGACAGGGGC 0.488000 12 48 0 0 0.028581 0 0 ATR 545 broad.mit.edu 37 3 142168296 142168296 + Missense_Mutation SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:142168296T>C ENST00000350721.4 - 47 8031 c.7910A>G c.(7909-7911)tAt>tGt p.Y2637C ATR_ENST00000383101.3_Missense_Mutation_p.Y2573C NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2637 FATC. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CCAACCAAGATACATCTGGCA 0.338000 Other conserved DNA damage response genes 15 91 0 0 0.033300 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21543067 21543067 + Missense_Mutation SNP G G T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr14:21543067G>T ENST00000298694.4 + 3 1305 c.1178G>T c.(1177-1179)cGa>cTa p.R393L ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R393L Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 393 Gly-rich. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GCTCTTAGCCGAGGAGGGGAC 0.607000 13 32 2.61681e-11 2.98799e-11 0.020292 1 0 MYOF 26509 broad.mit.edu 37 10 95069804 95069804 + Silent SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:95069804G>A ENST00000371501.4 - 53 6242 c.6120C>T c.(6118-6120)ttC>ttT p.F2040F MYOF_ENST00000371502.4_Silent_p.F2030F|MYOF_ENST00000359263.4_Silent_p.F2040F|MYOF_ENST00000358334.5_Silent_p.F2027F Q9NZM1 MYOF_HUMAN myoferlin 2040 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GCACGGCCACGAAGAGCAGCA 0.552000 5 30 0 0 0.014758 0 0 COQ4 51117 broad.mit.edu 37 9 131088088 131088088 + Silent SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr9:131088088C>G ENST00000300452.3 + 4 653 c.330C>G c.(328-330)ctC>ctG p.L110L COQ4_ENST00000372875.3_Silent_p.L110L NM_016035.3 NP_057119.2 Q9Y3A0 COQ4_HUMAN coenzyme Q4 110 ubiquinone biosynthetic process mitochondrial inner membrane endometrium(4)|large_intestine(1)|lung(4) 9 CATCCACCCTCGACCTGGGCA 0.582000 13 31 0 0 0.016723 0 0 MAGEB1 4112 broad.mit.edu 37 X 30268842 30268842 + Nonsense_Mutation SNP G G T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:30268842G>T ENST00000378981.3 + 4 553 c.232G>T c.(232-234)Gaa>Taa p.E78* MAGEB1_ENST00000397550.1_Nonsense_Mutation_p.E78*|MAGEB1_ENST00000397548.2_Nonsense_Mutation_p.E78* NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 78 NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 GTCATGTACCGAATCTGACGA 0.552000 5 8 1.23904e-05 1.3211e-05 0.014758 1 0 CSMD1 64478 broad.mit.edu 37 8 3087643 3087643 + Nonsense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr8:3087643G>A ENST00000602557.1 - 28 4822 c.4267C>T c.(4267-4269)Cag>Tag p.Q1423* CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q1423*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Q1422*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.Q1423*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q1422*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q1423*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q1422* Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1423 Sushi 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTTGGAGCTGATAGCCAGGG 0.517000 10 16 0 0 0.013537 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4455195 4455195 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:4455195C>T ENST00000254718.4 - 8 1309 c.1003G>A c.(1003-1005)Gag>Aag p.E335K MYBBP1A_ENST00000381556.2_Missense_Mutation_p.E335K Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 335 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 CACACGTGCTCCCCGTAATGG 0.627000 6 74 0 0 0.021553 0 0 TRIM68 55128 broad.mit.edu 37 11 4626315 4626315 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr11:4626315C>G ENST00000300747.5 - 2 709 c.420G>C c.(418-420)gaG>gaC p.E140D NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 140 protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) TCACCTTGTACTCCCAGGCAA 0.547000 5 29 0 0 0.014758 0 0 KMT2C 58508 broad.mit.edu 37 7 151874913 151874913 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:151874913G>A ENST00000355193.2 - 38 7843 c.7625C>T c.(7624-7626)tCa>tTa p.S2542L KMT2C_ENST00000262189.6_Missense_Mutation_p.S2542L lysine (K)-specific methyltransferase 2C GCTCTGTGGTGAAAAATGCTG 0.453000 40 71 0 0 0.025465 0 0 OBSCN 84033 broad.mit.edu 37 1 228557643 228557643 + Splice_Site SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:228557643C>G ENST00000570156.2 + 102 22913 c.22838_splice c.e102-1 p.S7613_splice OBSCN_ENST00000422127.1_Splice_Site_p.S6656_splice|OBSCN_ENST00000366707.4_Splice_Site_p.S4290_splice NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6656 Fibronectin type-III 4. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CTGTCTTCAGCCTGACCTGCT 0.622000 45 36 0 0 0.014410 0 0 COG7 91949 broad.mit.edu 37 16 23444886 23444886 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:23444886G>C ENST00000307149.5 - 6 975 c.790C>G c.(790-792)Caa>Gaa p.Q264E NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 264 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) CACTGGATTTGTGTGTGCCAA 0.547000 3 40 0 0 0.004672 0 0 LRCH3 84859 broad.mit.edu 37 3 197585726 197585726 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:197585726G>C ENST00000438796.2 + 15 1710 c.1666G>C c.(1666-1668)Gtg>Ctg p.V556L LRCH3_ENST00000441090.2_Missense_Mutation_p.V402L|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000334859.4_Missense_Mutation_p.V556L|LRCH3_ENST00000536618.1_Missense_Mutation_p.V151L|LRCH3_ENST00000425562.2_Missense_Mutation_p.V556L Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 556 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) GTTGAATCAAGTGGGCTGTGC 0.453000 40 134 0 0 0.045515 0 0 DYNLRB2 83657 broad.mit.edu 37 16 80583380 80583380 + Splice_Site SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:80583380G>C ENST00000305904.6 + 3 199 c.e3-1 DYNLRB2_ENST00000570222.1_Splice_Site|DYNLRB2_ENST00000562982.1_Splice_Site|RP11-525K10.3_ENST00000568776.1_RNA|RP11-109P11.1_ENST00000568275.1_RNA|DYNLRB2_ENST00000568035.1_Intron NM_130897.1 NP_570967.1 Q8TF09 DLRB2_HUMAN dynein, light chain, roadblock-type 2 microtubule-based movement|transport cytoplasmic dynein complex|microtubule microtubule motor activity large_intestine(1)|lung(4)|prostate(1) 6 TTTCATAATAGGTATTCCCAT 0.338000 4 20 0 0 0.009096 0 0 ALMS1 7840 broad.mit.edu 37 2 73717132 73717132 + Silent SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:73717132A>G ENST00000264448.6 + 10 8154 c.8043A>G c.(8041-8043)gaA>gaG p.E2681E ALMS1_ENST00000409009.1_Silent_p.E2639E NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2681 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GGCTGTCAGAATTAGTAGAAC 0.403000 24 143 0 0 0.024334 0 0 KLHL7 55975 broad.mit.edu 37 7 23191773 23191773 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:23191773G>A ENST00000322231.7 + 8 1305 c.815G>A c.(814-816)cGc>cAc p.R272H KLHL7_ENST00000339077.4_Missense_Mutation_p.R294H|KLHL7_ENST00000539124.1_Missense_Mutation_p.R218H|KLHL7_ENST00000409689.1_Missense_Mutation_p.R246H|KLHL7_ENST00000542558.1_Missense_Mutation_p.R69H|KLHL7_ENST00000545443.1_Missense_Mutation_p.R272H Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 294 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CATGACTACCGCATAGCCCTA 0.388000 9 52 0 0 0.006214 0 0 HNRNPL 3191 broad.mit.edu 37 19 39329127 39329127 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr19:39329127C>T ENST00000594769.1 - 3 316 c.317G>A c.(316-318)aGc>aAc p.S106N HNRNPL_ENST00000221419.5_Silent_p.E489E|HNRNPL_ENST00000600873.1_Silent_p.E356E TGGCTGCCTGCTCTGGGGTGG 0.572000 5 21 0 0 0.021553 0 0 UMOD 7369 broad.mit.edu 37 16 20362149 20362149 + Nonsense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:20362149G>A ENST00000396138.4 - 2 124 c.58C>T c.(58-60)Cag>Tag p.Q20* UMOD_ENST00000396142.2_5'UTR|UMOD_ENST00000570689.1_Intron|UMOD_ENST00000424589.1_Intron|UMOD_ENST00000396134.2_5'UTR|UMOD_ENST00000302509.4_Intron P07911 UROM_HUMAN uromodulin 0 cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CTCTGTCTCTGATGTCTGGTG 0.488000 4 6 0 0 0.009096 0 0 LOC220729 220729 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:197348634G>A ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 50 103 0 0 0.014410 0 0 MUC21 394263 broad.mit.edu 37 6 30954739 30954739 + Missense_Mutation SNP A A C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:30954739A>C ENST00000376296.3 + 2 1028 c.787A>C c.(787-789)Acc>Ccc p.T263P MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 263 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GTCCAGCACGACCTCCAGTGG 0.632000 9 177 0 0 0.038395 0 0 RAI14 26064 broad.mit.edu 37 5 34823598 34823598 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr5:34823598G>C ENST00000265109.3 + 15 1938 c.1651G>C c.(1651-1653)Gag>Cag p.E551Q RAI14_ENST00000512629.1_Missense_Mutation_p.E522Q|RAI14_ENST00000397449.1_Missense_Mutation_p.E544Q|RAI14_ENST00000506376.1_Missense_Mutation_p.E543Q|RAI14_ENST00000503673.1_Missense_Mutation_p.E551Q|RAI14_ENST00000428746.2_Missense_Mutation_p.E551Q|RAI14_ENST00000515799.1_Missense_Mutation_p.E554Q NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 551 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) aagaaataaagagaaagtgag 0.393000 3 44 0 0 0.004672 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23830203 23830203 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr4:23830203C>T ENST00000264867.2 - 5 696 c.577G>A c.(577-579)Gcg>Acg p.A193T PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 193 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) ATACTCTTCGCTTTATTGCTC 0.413000 3 87 0 0 0.009096 0 0 VCP 7415 broad.mit.edu 37 9 35059698 35059698 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr9:35059698C>T ENST00000358901.6 - 14 2691 c.1796G>A c.(1795-1797)cGa>cAa p.R599Q NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 599 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GTTGATGACTCGGTCAGCAGC 0.522000 18 87 0 0 0.043863 0 0 KIAA1432 57589 broad.mit.edu 37 9 5773076 5773076 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr9:5773076G>C ENST00000414202.2 + 25 4170 c.3979G>C c.(3979-3981)Gac>Cac p.D1327H KIAA1432_ENST00000418622.3_Missense_Mutation_p.D1248H|KIAA1432_ENST00000449720.2_Missense_Mutation_p.D1211H NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 1327 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GGCCTCTACAGACTGGTAAGT 0.443000 6 25 0 0 0.021553 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814630 106814630 + Nonsense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr8:106814630C>T ENST00000407775.2 + 8 2570 c.2320C>T c.(2320-2322)Caa>Taa p.Q774* RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.Q505*|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.Q642*|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.Q642*|RP11-152P17.2_ENST00000520433.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 774 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TACCTCCACTCAAGAACCCAC 0.463000 4 27 0 0 0.009096 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 3 57 0 0 0.009096 0 0 PASD1 139135 broad.mit.edu 37 X 150817138 150817138 + Missense_Mutation SNP A A C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:150817138A>C ENST00000370357.4 + 9 926 c.681A>C c.(679-681)gaA>gaC p.E227D NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 227 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) TGTACGTTGAACCCgctgctg 0.433000 10 74 0 0 0.012319 0 0 ANKRD26 22852 broad.mit.edu 37 10 27326225 27326225 + Missense_Mutation SNP T T A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:27326225T>A ENST00000376087.4 - 23 2752 c.2587A>T c.(2587-2589)Agg>Tgg p.R863W ANKRD26_ENST00000436985.2_Missense_Mutation_p.R879W|ANKRD26_ENST00000376070.3_Missense_Mutation_p.R420W NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 862 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 GAAAGTTGCCTCTGAGCGTCA 0.358000 42 121 0 0 0.014410 0 0 LRFN5 145581 broad.mit.edu 37 14 42356226 42356226 + Missense_Mutation SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr14:42356226A>G ENST00000554171.1 + 5 2830 c.398A>G c.(397-399)aAt>aGt p.N133S LRFN5_ENST00000554120.1_Missense_Mutation_p.N133S|LRFN5_ENST00000298119.4_Missense_Mutation_p.N133S Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 133 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTGAACAACAATCAGCTGACT 0.373000 HNSCC(30;0.082) 15 47 0 0 0.028581 0 0 SI 6476 broad.mit.edu 37 3 164786949 164786949 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:164786949G>A ENST00000264382.3 - 4 352 c.290C>T c.(289-291)cCg>cTg p.P97L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 97 P-type 1. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTCATTCCACGGCCTCCAGCA 0.373000 HNSCC(35;0.089) 6 48 0 0 0.021553 0 0 NDRG3 57446 broad.mit.edu 37 20 35293461 35293461 + Silent SNP T T G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr20:35293461T>G ENST00000373803.2 - 12 854 c.798A>C c.(796-798)gcA>gcC p.A266A NDRG3_ENST00000540765.1_Silent_p.A162A|NDRG3_ENST00000373773.3_Silent_p.A171A|NDRG3_ENST00000359675.2_Silent_p.A254A|NDRG3_ENST00000349004.1_Silent_p.A266A Q9UGV2 NDRG3_HUMAN NDRG family member 3 266 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) CAGCCTCAACTGCAGGCGAAT 0.458000 46 93 0 0 0.014410 0 0 KMT2D 8085 broad.mit.edu 37 12 49428364 49428364 + Splice_Site SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:49428364C>T ENST00000301067.7 - 36 10440 c.e36+1 NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGACCACTTACCTGGCCACTC 0.562000 4 11 0 0 0.021553 0 0 DSCR10 259234 broad.mit.edu 37 21 39580540 39580540 + RNA SNP T T G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr21:39580540T>G ENST00000432141.1 + 0 662 NR_027695.1 TATGTGTGTGTGGGTTTGCCA 0.418000 40 207 0 0 0.033182 0 0 HIVEP1 3096 broad.mit.edu 37 6 12125603 12125603 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:12125603G>A ENST00000379388.2 + 4 5907 c.5575G>A c.(5575-5577)Gaa>Aaa p.E1859K NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1859 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCAGGAATTTGAAAACATCAA 0.338000 37 44 0 0 0.025465 0 0 MYSM1 114803 broad.mit.edu 37 1 59147830 59147830 + Silent SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:59147830G>A ENST00000472487.1 - 8 925 c.886C>T c.(886-888)Ctg>Ttg p.L296L MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 296 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) TCAGTCCACAGTGTAATTTCT 0.363000 13 109 0 0 0.016723 0 0 PA2G4 5036 broad.mit.edu 37 12 56504208 56504208 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:56504208G>A ENST00000303305.6 + 8 1074 c.655G>A c.(655-657)Gag>Aag p.E219K PA2G4_ENST00000552766.1_Missense_Mutation_p.E219K|RP11-603J24.17_ENST00000548595.1_RNA NM_006191.2 NP_006182.2 Q9UQ80 PA2G4_HUMAN proliferation-associated 2G4, 38kDa 219 cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing cytoplasm|nucleolus|ribonucleoprotein complex DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(18;0.0739) AGCTGAATTTGAGGTACATGA 0.443000 7 55 0 0 0.038147 0 0 OAS3 4940 broad.mit.edu 37 12 113388618 113388618 + Missense_Mutation SNP G G A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:113388618G>A ENST00000228928.7 + 7 1674 c.1495G>A c.(1495-1497)Gag>Aag p.E499K RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 499 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GATCCTTGATGAGATGCGAGC 0.572000 32 55 0 0 0.015359 0 0 ZNF768 79724 broad.mit.edu 37 16 30537672 30537672 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:30537672C>T ENST00000380412.5 - 1 238 c.63G>A c.(61-63)atG>atA p.M21I ZNF768_ENST00000562803.1_Intron|ZNF747_ENST00000569360.1_Intron|ZNF747_ENST00000535210.1_Intron NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 21 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 CGGGGCTCCTCATTTCGTCAG 0.701000 5 23 0 0 0.014758 0 0 MAX 4149 broad.mit.edu 37 14 65544653 65544653 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr14:65544653C>G ENST00000284165.6 - 4 421 c.273G>C c.(271-273)caG>caC p.Q91H MAX_ENST00000555419.1_Missense_Mutation_p.Q55H|MAX_ENST00000358402.4_Missense_Mutation_p.Q82H|MAX_ENST00000358664.4_Missense_Mutation_p.Q91H|MAX_ENST00000557746.1_Missense_Mutation_p.Q82H|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000556979.1_Missense_Mutation_p.Q91H|MAX_ENST00000556443.1_Missense_Mutation_p.Q82H|MAX_ENST00000341653.2_Intron|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Missense_Mutation_p.Q82H NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X 91 Leucine-zipper. transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity 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) GAAGAGCATTCTGCCGCTTGA 0.567000 18 32 0 0 0.008871 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:7577548C>T ENST00000420246.2 - 7 865 c.733G>A c.(733-735)Ggc>Agc p.G245S TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 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) 15 21 0 0 0.024245 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718314 142718314 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:142718314C>T ENST00000381779.4 - 2 836 c.611G>A c.(610-612)cGt>cAt p.R204H SLITRK4_ENST00000356928.1_Missense_Mutation_p.R204H|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R204H NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 204 integral to membrane p.R204H(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TTCAACGACACGGCCAATGTG 0.428000 25 54 0 0 0.021523 0 0 ABCF1 23 broad.mit.edu 37 6 30547713 30547713 + Silent SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:30547713A>G ENST00000326195.8 + 7 607 c.495A>G c.(493-495)gtA>gtG p.V165V ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.V165V NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 165 Glu-rich. inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 TCCAGGCCGTATCTGAGGAAC 0.433000 7 8 0 0 0.029380 0 0 GTF3C1 2975 broad.mit.edu 37 16 27472703 27472703 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:27472703C>T ENST00000356183.4 - 37 6313 c.6298G>A c.(6298-6300)Gag>Aag p.E2100K GTF3C1_ENST00000561623.1_Missense_Mutation_p.E2075K NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 2100 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CAGTTGACCTCGTGGGGGAAC 0.652000 10 40 0 0 0.008291 0 0 BCORL1 63035 broad.mit.edu 37 X 129147536 129147536 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:129147536C>T ENST00000540052.1 + 3 832 c.788C>T c.(787-789)cCg>cTg p.P263L BCORL1_ENST00000303743.5_Missense_Mutation_p.P263L|BCORL1_ENST00000218147.7_Missense_Mutation_p.P263L|BCORL1_ENST00000359304.2_Missense_Mutation_p.P263L NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 263 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CCAGCGCCACCGTCAGTGCCC 0.627000 16 49 0 0 0.033300 0 0 TEX2 55852 broad.mit.edu 37 17 62248511 62248511 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:62248511C>G ENST00000258991.3 - 7 2725 c.2641G>C c.(2641-2643)Gtg>Ctg p.V881L TEX2_ENST00000584379.1_Missense_Mutation_p.V874L|TEX2_ENST00000583097.1_Missense_Mutation_p.V874L Q8IWB9 TEX2_HUMAN testis expressed 2 874 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) GGCACAGCCACGCCCATGTCA 0.448000 5 35 0 0 0.014758 0 0 MASP1 5648 broad.mit.edu 37 3 187003846 187003846 + Splice_Site SNP T T A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:187003846T>A ENST00000337774.5 - 2 395 c.e2-2 MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Splice_Site|MASP1_ENST00000392472.2_Intron|MASP1_ENST00000169293.6_Splice_Site|MASP1_ENST00000392470.2_Splice_Site NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) AGCAGCCACCTGAAAGACATG 0.478000 13 39 0 0 0.016723 0 0 MYO1D 4642 broad.mit.edu 37 17 31094761 31094761 + Missense_Mutation SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:31094761T>C ENST00000318217.5 - 7 1028 c.724A>G c.(724-726)Aat>Gat p.N242D MYO1D_ENST00000394649.4_Missense_Mutation_p.N154D|MYO1D_ENST00000579584.1_Missense_Mutation_p.N242D|MYO1D_ENST00000583621.1_Missense_Mutation_p.N242D NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 242 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) GCAGCATCATTGATAGAAGAC 0.353000 24 39 0 0 0.014323 0 0 F8 2157 broad.mit.edu 37 X 154221234 154221234 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:154221234C>G ENST00000360256.4 - 4 778 c.578G>C c.(577-579)gGa>gCa p.G193A NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 193 F5/8 type A 1.|Plastocyanin-like 1. G -> R (in HEMA; severe familial). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TAGTAGGGCTCCAATGAGGCC 0.413000 3 79 0 0 0.004672 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33017607 33017607 + Missense_Mutation SNP T T A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr13:33017607T>A ENST00000357505.6 - 7 1126 c.1022A>T c.(1021-1023)tAt>tTt p.Y341F N4BP2L2_ENST00000504114.1_Missense_Mutation_p.Y341F|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.Y356F|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron NM_001278432.1 NP_001265361.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 0 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TTTAGTTGTATACACTTGTTC 0.378000 6 18 0 0 0.021553 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41807560 41807560 + Silent SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr19:41807560C>T ENST00000392006.3 + 11 1811 c.1638C>T c.(1636-1638)acC>acT p.T546T HNRNPUL1_ENST00000602130.1_Silent_p.T546T|HNRNPUL1_ENST00000352456.3_Silent_p.T446T|HNRNPUL1_ENST00000595018.1_Silent_p.T446T|HNRNPUL1_ENST00000378215.4_Silent_p.T432T|HNRNPUL1_ENST00000593587.1_Silent_p.T446T|HNRNPUL1_ENST00000263367.3_Silent_p.T457T NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 546 Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 TAAAGCGAACCGACGAGGAAG 0.483000 9 53 0 0 0.004482 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121636535 121636535 + Missense_Mutation SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:121636535T>C ENST00000393386.2 + 9 1439 c.1028T>C c.(1027-1029)aTt>aCt p.I343T PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I343T NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 343 Fibronectin type-III. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GATACCATGATTGAGAAGTTT 0.408000 4 98 0 0 0.009096 0 0 OBSCN 84033 broad.mit.edu 37 1 228557645 228557645 + Missense_Mutation SNP T T G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr1:228557645T>G ENST00000570156.2 + 102 22915 c.22841T>G c.(22840-22842)cTg>cGg p.L7614R OBSCN_ENST00000422127.1_Missense_Mutation_p.L6657R|OBSCN_ENST00000366707.4_Missense_Mutation_p.L4291R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6657 Fibronectin type-III 4. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTCTTCAGCCTGACCTGCTCA 0.622000 46 37 0 0 0.014410 0 0 RASA1 5921 broad.mit.edu 37 5 86670020 86670020 + Missense_Mutation SNP T T A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr5:86670020T>A ENST00000456692.2 + 14 1401 c.1286T>A c.(1285-1287)cTc>cAc p.L429H RASA1_ENST00000274376.6_Missense_Mutation_p.L606H|RASA1_ENST00000512763.1_Missense_Mutation_p.L439H|RASA1_ENST00000506290.1_Missense_Mutation_p.L440H NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 606 SH2 2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) GCCCATAAACTCCCAGTAAAA 0.333000 7 11 0 0 0.029380 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 4 51 0 0 0.009096 0 0 VCP 7415 broad.mit.edu 37 9 35061650 35061650 + Missense_Mutation SNP T T A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr9:35061650T>A ENST00000358901.6 - 10 2013 c.1118A>T c.(1117-1119)gAt>gTt p.D373V NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 373 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TCCTGTAGCATCAGGAATTCC 0.478000 11 187 0 0 0.010729 0 0 COX18 285521 broad.mit.edu 37 4 73930982 73930982 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr4:73930982C>A ENST00000295890.4 - 3 674 c.583G>T c.(583-585)Gca>Tca p.A195S COX18_ENST00000507544.2_Missense_Mutation_p.A195S NM_173827.2 NP_776188.1 Q8N8Q8 COX18_HUMAN COX18 cytochrome C oxidase assembly factor 195 protein insertion into mitochondrial membrane|respiratory chain complex IV assembly integral to mitochondrial inner membrane protein transporter activity large_intestine(4)|lung(2) 6 Breast(15;0.00096) Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GAATGTGCTGCCCCCGTGCTT 0.378000 17 30 2.35188e-11 2.70466e-11 0.038395 1 0 MMP2 4313 broad.mit.edu 37 16 55523685 55523685 + Missense_Mutation SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:55523685A>G ENST00000219070.4 + 7 1638 c.1129A>G c.(1129-1131)Acc>Gcc p.T377A MMP2_ENST00000570308.1_Missense_Mutation_p.T301A|MMP2_ENST00000543485.1_Missense_Mutation_p.T301A|MMP2_ENST00000437642.2_Missense_Mutation_p.T327A NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 377 Collagen-binding.|Fibronectin type-II 3. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GTGGTGTGCGACCACAGCCAA 0.592000 8 56 0 0 0.006214 0 0 LY6H 4062 broad.mit.edu 37 8 144239772 144239772 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr8:144239772C>G ENST00000414417.2 - 5 614 c.381G>C c.(379-381)gaG>gaC p.E127D LY6H_ENST00000430474.2_Missense_Mutation_p.E106D|LY6H_ENST00000342752.4_Missense_Mutation_p.E127D NM_001130478.1 NP_001123950.1 O94772 LY6H_HUMAN lymphocyte antigen 6 complex, locus H 106 nervous system development|organ morphogenesis anchored to membrane|plasma membrane endometrium(1)|lung(1)|stomach(2) 4 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) ACAAATCCTTCTCGCAGCAGT 0.612000 5 49 0 0 0.014758 0 0 ZNF445 353274 broad.mit.edu 37 3 44488834 44488834 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:44488834G>C ENST00000425708.2 - 7 2670 c.2329C>G c.(2329-2331)Ctc>Gtc p.L777V ZNF445_ENST00000396077.2_Missense_Mutation_p.L777V P59923 ZN445_HUMAN zinc finger protein 445 777 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) TGGATGAGGAGGAATGAGTGA 0.512000 21 20 0 0 0.010504 0 0 HADHA 3030 broad.mit.edu 37 2 26438045 26438045 + Splice_Site SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:26438045C>T ENST00000380649.3 - 8 806 c.e8-1 HADHA_ENST00000457468.2_Splice_Site NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) AGTCCTGGTCCTATAAAAATG 0.438000 23 105 0 0 0.016522 0 0 SEC23B 10483 broad.mit.edu 37 20 18511339 18511339 + Missense_Mutation SNP G G T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr20:18511339G>T ENST00000336714.3 + 10 1557 c.1125G>T c.(1123-1125)atG>atT p.M375I SEC23B_ENST00000377475.3_Missense_Mutation_p.M375I|SEC23B_ENST00000377465.1_Missense_Mutation_p.M375I|SEC23B_ENST00000262544.2_Missense_Mutation_p.M375I NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 375 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 ACATGGTAATGGGAGATTCTT 0.343000 6 73 1.06961e-07 1.18764e-07 0.038147 1 0 SNHG14 104472715 broad.mit.edu 37 15 25332820 25332820 + RNA SNP G G T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr15:25332820G>T ENST00000546682.1 + 0 586 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-21_ENST00000384529.1_lincRNA NR_003361.1 GATCGATGATGACTTCCATAT 0.438000 16 84 3.52763e-06 3.81174e-06 0.033300 1 0 BIRC7 79444 broad.mit.edu 37 20 61869950 61869950 + Silent SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr20:61869950C>G ENST00000217169.3 + 4 775 c.561C>G c.(559-561)gcC>gcG p.A187A BIRC7_ENST00000395306.1_Silent_p.A100A|BIRC7_ENST00000342412.6_Silent_p.A187A NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 187 activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) AAGACGCAGCCCCTGTGGCCC 0.677000 4 86 0 0 0.009096 0 0 COL21A1 81578 broad.mit.edu 37 6 55922598 55922598 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:55922598C>G ENST00000244728.5 - 30 3128 c.2731G>C c.(2731-2733)Gac>Cac p.D911H COL21A1_ENST00000535941.1_Missense_Mutation_p.D911H|COL21A1_ENST00000370819.1_Missense_Mutation_p.D908H|COL21A1_ENST00000370808.2_Missense_Mutation_p.D277H|COL21A1_ENST00000467045.1_5'UTR NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 911 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) AGACCTGGGTCTCCTGGAGGA 0.498000 8 11 0 0 0.004482 0 0 BMI1 648 broad.mit.edu 37 10 22618334 22618334 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:22618334C>A ENST00000376663.3 + 10 1349 c.844C>A c.(844-846)Cct>Act p.P282T COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.P425T NM_005180.8 NP_005171.4 BMI1 polycomb ring finger oncogene breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1) 12 AGTGCAGTCTCCTCATCCACA 0.507000 25 79 2.44723e-14 2.83456e-14 0.024334 1 0 FZD1 8321 broad.mit.edu 37 7 90895177 90895177 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:90895177G>C ENST00000287934.2 + 1 1395 c.982G>C c.(982-984)Gtg>Ctg p.V328L NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 328 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CATTTGGTCAGTGCTGTGCTG 0.627000 15 87 0 0 0.020292 0 0 AKR1B1 231 broad.mit.edu 37 7 134135632 134135632 + Missense_Mutation SNP T T C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:134135632T>C ENST00000285930.4 - 3 336 c.257A>G c.(256-258)aAg>aGg p.K86R AKR1B1_ENST00000489022.1_5'UTR NM_001628.2 NP_001619.1 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 (aldose reductase) 86 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) CACCAGGCCCTTCTCATGGTA 0.557000 5 26 0 0 0.014758 0 0 CCDC36 339834 broad.mit.edu 37 3 49293597 49293597 + Missense_Mutation SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:49293597A>G ENST00000438782.1 + 8 903 c.667A>G c.(667-669)Aac>Gac p.N223D CCDC36_ENST00000296449.5_Missense_Mutation_p.N223D|CCDC36_ENST00000452691.2_Missense_Mutation_p.N223D Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 223 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) AATGAAGTCCAACCTGAAGCA 0.473000 34 58 0 0 0.021022 0 0 SPTB 6710 broad.mit.edu 37 14 65242099 65242099 + Missense_Mutation SNP C C A TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr14:65242099C>A ENST00000389722.3 - 22 4639 c.4586G>T c.(4585-4587)gGc>gTc p.G1529V SPTB_ENST00000389720.3_Missense_Mutation_p.G1529V|SPTB_ENST00000556626.1_Missense_Mutation_p.G1529V|SPTB_ENST00000389721.5_Missense_Mutation_p.G1529V|SPTB_ENST00000542895.1_Missense_Mutation_p.G1529V NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1529 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CGGCGTATGGCCCAGAATCTC 0.662000 15 13 1.15088e-07 1.26048e-07 0.028581 1 0 SEC24B 10427 broad.mit.edu 37 4 110384711 110384711 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr4:110384711C>T ENST00000265175.5 + 2 843 c.788C>T c.(787-789)tCa>tTa p.S263L SEC24B_ENST00000399100.2_Missense_Mutation_p.S263L|SEC24B_ENST00000504968.2_Missense_Mutation_p.S294L NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 263 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CTAACGTGGTCATCTCCAGGC 0.488000 20 40 0 0 0.043863 0 0 PRSS22 64063 broad.mit.edu 37 16 2905798 2905798 + Silent SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:2905798C>T ENST00000161006.3 - 4 401 c.336G>A c.(334-336)ggG>ggA p.G112G PRSS22_ENST00000571228.1_Intron|PRSS22_ENST00000574768.1_5'UTR NM_022119.3 NP_071402.1 Q9GZN4 BSSP4_HUMAN protease, serine, 22 112 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 AGCCAGGGTTCCCCAGCTGCC 0.617000 6 28 0 0 0.021553 0 0 MYCBP2 23077 broad.mit.edu 37 13 77751900 77751900 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr13:77751900C>T ENST00000407578.2 - 35 5589 c.5323G>A c.(5323-5325)Gag>Aag p.E1775K MYCBP2_ENST00000544440.2_Missense_Mutation_p.E1737K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1737K|MYCBP2_ENST00000360084.5_5'UTR NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1737 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ACCAACACCTCTAATTCATAT 0.398000 20 16 0 0 0.014323 0 0 SLC12A6 9990 broad.mit.edu 37 15 34628812 34628812 + Missense_Mutation SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr15:34628812C>G ENST00000354181.3 - 2 562 c.70G>C c.(70-72)Gac>Cac p.D24H SLC12A6_ENST00000397707.2_Missense_Mutation_p.D24H|SLC12A6_ENST00000458406.2_Intron|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D15H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D24H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D24H Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 24 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CCTGGAATGTCATCGATCTTT 0.488000 14 21 0 0 0.028581 0 0 MROH8 140699 broad.mit.edu 37 20 35757571 35757571 + Splice_Site SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr20:35757571C>G ENST00000400441.3 - 14 1649 c.e14-1 MROH8_ENST00000441008.2_Splice_Site|MROH8_ENST00000217333.8_Splice_Site maestro heat-like repeat family member 8 AGCCAGGTGCCTGGAAATCCC 0.512000 10 14 0 0 0.008291 0 0 LMCD1 29995 broad.mit.edu 37 3 8579047 8579047 + Missense_Mutation SNP A A G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:8579047A>G ENST00000157600.3 + 3 540 c.308A>G c.(307-309)aAc>aGc p.N103S LMCD1_ENST00000535732.1_Missense_Mutation_p.N103S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Missense_Mutation_p.N30S|LMCD1_ENST00000397386.3_Intron NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 103 PET. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) ATCATGACCAACCCTATTGCT 0.552000 10 138 0 0 0.008291 0 0 ALK 238 broad.mit.edu 37 2 29456500 29456500 + Silent SNP A A T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:29456500A>T ENST00000389048.3 - 14 3324 c.2418T>A c.(2416-2418)cgT>cgA p.R806R ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 806 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.R806R(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TTCTGTTCACACGGATTTCTT 0.488000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 26 70 0 0 0.021523 0 0 RFFL 117584 broad.mit.edu 37 17 33353416 33353416 + Missense_Mutation SNP G G C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:33353416G>C ENST00000315249.7 - 2 379 c.157C>G c.(157-159)Cac>Gac p.H53D RFFL_ENST00000415395.2_Missense_Mutation_p.H53D|RFFL_ENST00000413582.2_Missense_Mutation_p.H53D|RFFL_ENST00000394597.2_Missense_Mutation_p.H53D|RFFL_ENST00000378516.2_Missense_Mutation_p.H53D|RFFL_ENST00000268850.7_Missense_Mutation_p.H53D|RFFL_ENST00000447669.2_Missense_Mutation_p.H53D|RFFL_ENST00000584655.1_Missense_Mutation_p.H53D|RAD51L3-RFFL_ENST00000593039.1_Intron Q8WZ73 RFFL_HUMAN ring finger and FYVE-like domain containing E3 ubiquitin protein ligase 53 apoptosis membrane ligase activity|zinc ion binding kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TTTGCAAAGTGAGCCCCACAG 0.597000 6 24 0 0 0.021553 0 0 ZNF768 79724 broad.mit.edu 37 16 30537124 30537124 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:30537124C>T ENST00000380412.5 - 2 512 c.337G>A c.(337-339)Gag>Aag p.E113K ZNF768_ENST00000562803.1_Missense_Mutation_p.E82K NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 113 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 GATTCAAACTCAGGGCTCTGA 0.587000 14 60 0 0 0.016723 0 0 TRRAP 8295 broad.mit.edu 37 7 98535316 98535316 + Missense_Mutation SNP A A T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr7:98535316A>T ENST00000359863.4 + 30 4486 c.4277A>T c.(4276-4278)cAt>cTt p.H1426L TRRAP_ENST00000355540.3_Missense_Mutation_p.H1426L|TRRAP_ENST00000446306.3_Missense_Mutation_p.H1425L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1426 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATCCACACACATATGCGACCT 0.413000 11 69 0 0 0.010729 0 0 CCL23 6368 broad.mit.edu 37 17 34340266 34340266 + Missense_Mutation SNP C C T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:34340266C>T ENST00000293280.2 - 4 455 c.385G>A c.(385-387)Gac>Aac p.D129N CCL23_ENST00000591423.1_Missense_Mutation_p.D112N NM_005064.3 NP_005055.2 P55773 CCL23_HUMAN chemokine (C-C motif) ligand 23 112 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding large_intestine(2)|liver(1)|lung(2)|prostate(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) ATCCGTGTGTCCAGCTTCAGC 0.498000 6 33 0 0 0.021553 0 0 RAD50 10111 broad.mit.edu 37 5 131915747 131915747 + Missense_Mutation SNP G G T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr5:131915747G>T ENST00000378823.3 + 5 1146 c.328G>T c.(328-330)Gat>Tat p.D110Y RAD50_ENST00000265335.6_Missense_Mutation_p.D249Y|RAD50_ENST00000487596.1_3'UTR NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 249 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAATGAACTTGATCCATTGAA 0.308000 Homologous recombination 8 45 5.18039e-06 5.56029e-06 0.038147 1 0 A4GNT 51146 broad.mit.edu 37 3 137843343 137843343 + Silent SNP G G T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr3:137843343G>T ENST00000236709.3 - 3 987 c.786C>A c.(784-786)ccC>ccA p.P262P NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 262 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 GATAGGAGATGGGGTAAAATC 0.483000 11 79 0.000151284 0.000160242 0.016723 1 0 TTN 7273 broad.mit.edu 37 2 179459274 179459275 + Frame_Shift_Ins INS - - T TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr2:179459274_179459275insT ENST00000589042.1 - 296 58170_58171 c.57946_57947insA c.(57946-57948)tatfs p.Y19316fs TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.Y10443fs|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.Y10251fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.Y10376fs|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.Y17675fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.Y16748fs|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17675 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) ATAGTTAATAATTTCTGACCCA 0.391 41 58 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114275546 114275547 + Frame_Shift_Ins INS - - C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr4:114275546_114275547insC ENST00000357077.4 + 38 5825_5826 c.5772_5773insC c.(5770-5775)aaacccfs p.KP1924fs ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.KP1891fs|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1891 Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGACAGAAAAACACCCGCCAGT 0.515 7 49 --- --- --- --- BCLAF1 9774 broad.mit.edu 37 6 136582553 136582553 + Frame_Shift_Del DEL A A - TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr6:136582553delA ENST00000531224.1 - 12 2859 c.2607delT c.(2605-2607)ttfs p.F869fs BCLAF1_ENST00000031135.9_Frame_Shift_Del_p.F87fs|BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.F696fs|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.F867fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.F818fs|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.F820fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.F818fs NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 869 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGCCACGTTGAAAAGTACCAC 0.413 18 256 --- --- --- --- BMS1 9790 broad.mit.edu 37 10 43312844 43312846 + In_Frame_Del DEL AAG AAG - TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr10:43312844_43312846delAAG ENST00000374518.4 + 15 2545_2547 c.2482_2484delAAG c.(2482-2484)del p.K829del NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 829 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GCATTTGGATAAGAAGAGAAAAT 0.340 7 60 --- --- --- --- TMEM134 80194 broad.mit.edu 37 11 67232544 67232544 + Frame_Shift_Del DEL T T - TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr11:67232544delT ENST00000308022.2 - 5 475 c.434delA c.(433-435)ggfs p.E145fs TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000393877.3_Intron NM_001078651.1|NM_025124.2 NP_001072119.1|NP_079400.1 Q9H6X4 TM134_HUMAN transmembrane protein 134 145 integral to membrane endometrium(1)|lung(1) 2 GGGGGTCGCCTCCAGTCCCAC 0.731 2 4 --- --- --- --- AVIL 10677 broad.mit.edu 37 12 58203422 58203423 + Frame_Shift_Ins INS - - C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr12:58203422_58203423insC ENST00000537081.1 - 8 874_875 c.875_876insG c.(874-876)ggcfs p.G292fs AVIL_ENST00000257861.3_Frame_Shift_Ins_p.G299fs O75366 AVIL_HUMAN advillin 299 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) CCTTTGTGGCTCCTTTTCCTTT 0.460 9 80 --- --- --- --- ZNF821 55565 broad.mit.edu 37 16 71894083 71894088 + In_Frame_Del DEL CATTTT CATTTT - TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr16:71894083_71894088delCATTTT ENST00000425432.1 - 8 1451_1456 c.1072_1077delAAAATG c.(1072-1077)del p.KM358del ZNF821_ENST00000313565.6_In_Frame_Del_p.KM316del|ZNF821_ENST00000565601.1_In_Frame_Del_p.KM358del|RP11-498D10.4_ENST00000569119.1_Intron|RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000446827.2_In_Frame_Del_p.KM316del|ZNF821_ENST00000564134.1_3'UTR NM_001201552.1 NP_001188481.1 O75541 ZN821_HUMAN zinc finger protein 821 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2) 13 ACATCATGTCCATTTTCTCCAGCCTC 0.587 8 55 --- --- --- --- LGALS9B 284194 broad.mit.edu 37 17 20370782 20370783 + Translation_Start_Site INS - - TC rs147679570 TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:20370782_20370783insTC ENST00000423676.3 - 0 64_65 LGALS9B_ENST00000324290.5_Start_Codon_Ins Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B sugar binding p.M1fs*12(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 GCTGAAGGCCATCTCCACCGCC 0.584 4 4 --- --- --- --- RAB40B 10966 broad.mit.edu 37 17 80615774 80615775 + Frame_Shift_Ins INS - - G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr17:80615774_80615775insG ENST00000571995.1 - 6 932_933 c.801_802insC c.(799-804)ccaaaafs p.PK267fs RAB40B_ENST00000269347.6_Frame_Shift_Ins_p.PK88fs NM_006822.2 NP_006813.1 Q12829 RB40B_HUMAN RAB40B, member RAS oncogene family 267 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2) 10 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GTGCAGTTTTTGGGGGGGCTCT 0.584 7 163 --- --- --- --- NFKBIB 4793 broad.mit.edu 37 19 39399378 39399380 + In_Frame_Del DEL ACG ACG - rs141886159 TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chr19:39399378_39399380delACG ENST00000313582.5 + 6 1011_1013 c.977_979delACG c.(976-981)tac>t p.YD326del NFKBIB_ENST00000392079.3_3'UTR NM_002503.4 NP_002494.2 Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 326 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CAGGATGAATACGACGACATTGT 0.596 19 65 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154577979 154577983 + RNA DEL AGGGG AGGGG - TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrX:154577979_154577983delAGGGG ENST00000412436.1 - 0 98 RP13-228J13.1_ENST00000444722.1_RNA TATTGAACATAGGGGAAGCCTTATA 0.380 3 6 --- --- --- --- RNA5-8SP6 100873336 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx d03b8f96-c932-4abf-b508-f4e1b50739ee d5b021c2-0f46-4f80-b693-57047c559add g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 4 9 --- --- --- ---