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 OR4C11 219429 broad.mit.edu 37 11 55371229 55371229 + Silent SNP A A G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr11:55371229A>G ENST00000302231.4 - 1 645 c.621T>C c.(619-621)agT>agC p.S207S NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 TCATGAAACTACTTGAGCAAA 0.423000 93 25 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124325908 124325908 + Missense_Mutation SNP G G T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr12:124325908G>T ENST00000409039.3 + 29 4847 c.4822G>T c.(4822-4824)Gat>Tat p.D1608Y NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1608 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TAATGACGGCGATAGTGGAGA 0.517000 124 212 6.58568e-60 7.8205e-60 1 1 0 INPP5D 3635 broad.mit.edu 37 2 234113018 234113018 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr2:234113018C>T ENST00000359570.5 + 28 3186 c.3186C>T c.(3184-3186)ccC>ccT p.1062_1062insP INPP5D_ENST00000455936.2_Missense_Mutation_p.826_826insP|INPP5D_ENST00000450745.1_Missense_Mutation_p.826_826insP Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 0 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCGAGGGGCCCGGCAAGCAGG 0.706000 6 67 0 0 1 0 0 PGD 5226 broad.mit.edu 37 1 10479685 10479685 + Splice_Site SNP A A G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr1:10479685A>G ENST00000538557.1 + 13 1537 c.e13-1 PGD_ENST00000498356.1_Splice_Site|PGD_ENST00000541529.1_Splice_Site|PGD_ENST00000270776.8_Splice_Site P52209 6PGD_HUMAN phosphogluconate dehydrogenase pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) CTCGTTTCCTAGGCTCAGCGG 0.587000 50 94 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869979 97869979 + Missense_Mutation SNP G G T rs111515821 TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr2:97869979G>T ENST00000420699.2 + 50 3284 c.3040G>T c.(3040-3042)Gat>Tat p.D1014Y ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 1014 p.D1014Y(5) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 AGGAAAAAAGGATGGAGAAAA 0.328000 5 44 1.6384e-10 1.83115e-10 1 1 0 TBCD 6904 broad.mit.edu 37 17 80755631 80755631 + Splice_Site SNP A A T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr17:80755631A>T ENST00000355528.4 + 8 901 c.e8-1 TBCD_ENST00000397466.2_Splice_Site|TBCD_ENST00000539345.2_Splice_Site NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity p.?(1) Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TTTTTTTTTTAGGCACAAATA 0.264000 5 38 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42213889 42213889 + Missense_Mutation SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr19:42213889T>C ENST00000221992.6 + 2 469 c.355T>C c.(355-357)Ttc>Ctc p.F119L CEA_ENST00000598976.1_Missense_Mutation_p.F119L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.F119L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.F119L NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 119 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TGACACAGGATTCTACACCCT 0.493000 5 535 0 0 1 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751539 26751539 + Missense_Mutation SNP C C G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr3:26751539C>G ENST00000396641.2 + 2 968 c.376C>G c.(376-378)Caa>Gaa p.Q126E LRRC3B_ENST00000456208.2_Missense_Mutation_p.Q126E|LRRC3B_ENST00000417744.1_Missense_Mutation_p.Q126E NM_052953.2 NP_443185.1 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B 126 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 CAATCGGATTCAAAGTGTGCA 0.478000 4 113 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) 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) ACTGGACGCAGGcagcagcag 0.657000 4 36 0 0 1 0 0 C11orf80 79703 broad.mit.edu 37 11 66555677 66555677 + Silent SNP T T G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr11:66555677T>G ENST00000360962.4 + 5 577 c.570T>G c.(568-570)acT>acG p.T190T C11orf80_ENST00000532565.2_5'UTR|C11orf80_ENST00000346672.4_Silent_p.T35T|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000540737.1_Silent_p.T24T|C11orf80_ENST00000525449.2_Silent_p.T35T|C11orf80_ENST00000527634.1_Intron NM_024650.3 NP_078926.3 Q8N6T0 CK080_HUMAN chromosome 11 open reading frame 80 35 autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 TGACTTGGACTTCAGAGGAAG 0.418000 13 107 0 0 1 0 0 GNL3L 54552 broad.mit.edu 37 X 54581027 54581027 + Silent SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:54581027T>C ENST00000336470.4 + 14 1487 c.1348T>C c.(1348-1350)Ttg>Ctg p.L450L GNL3L_ENST00000360845.2_Silent_p.L450L NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 450 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 TGATGAGCTGTTGGGTGACAC 0.522000 4 102 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901793 51901793 + Missense_Mutation SNP G G C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr17:51901793G>C ENST00000268919.4 + 1 1555 c.1399G>C c.(1399-1401)Gaa>Caa p.E467Q NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 467 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.E467*(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AAGGCAGCTGGAAGGGGCAGA 0.493000 6 87 0 0 1 0 0 MAGOH 4116 broad.mit.edu 37 1 53692717 53692717 + Silent SNP C C T rs75427086 byFrequency TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr1:53692717C>T ENST00000371470.3 - 5 602 c.441G>A c.(439-441)taG>taA p.*147* MAGOH_ENST00000371466.4_Silent_p.*110* NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 0 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 AATATTCAGTCTAGATTGGTT 0.368000 4 55 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22168605 22168605 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr1:22168605G>A ENST00000374695.3 - 69 9162 c.9083C>T c.(9082-9084)cCg>cTg p.P3028L NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3028 Ig-like C2-type 16. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GCTGCTGGGCGGGTCGATGGA 0.677000 39 51 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129781361 129781361 + Missense_Mutation SNP G G A rs142164767 by1000genomes TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr6:129781361G>A ENST00000421865.2 + 49 6933 c.6884G>A c.(6883-6885)cGt>cAt p.R2295H NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2295 Laminin G-like 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GATGCTGTACGTGTGATTACA 0.383000 108 160 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33387018 33387018 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr9:33387018C>T ENST00000539936.1 - 4 455 c.217G>A c.(217-219)Ggt>Agt p.G73S AQP7_ENST00000541274.1_Intron|AQP7_ENST00000537089.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.G16S O14520 AQP7_HUMAN aquaporin 7 73 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) AAGCCAAAACCCAAGTTGACA 0.577000 26 158 0 0 1 0 0 KLF17 128209 broad.mit.edu 37 1 44595585 44595585 + Silent SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr1:44595585G>A ENST00000372299.3 + 2 700 c.642G>A c.(640-642)ccG>ccA p.P214P KLF17_ENST00000476802.1_Intron NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 214 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) TGTTGCCCCCGCAAGATGCCC 0.572000 15 110 0 0 1 0 0 MND1 84057 broad.mit.edu 37 4 154265890 154265890 + Translation_Start_Site SNP A A T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr4:154265890A>T ENST00000240488.3 + 1 90 c.1A>T c.(1-3)Atg>Ttg p.M1L MND1_ENST00000503967.1_3'UTR NM_001253861.1|NM_032117.3 NP_001240790.1|NP_115493.1 Q9BWT6 MND1_HUMAN meiotic nuclear divisions 1 homolog (S. cerevisiae) 1 DNA recombination|meiosis nucleus DNA binding large_intestine(2)|lung(1) 3 all_hematologic(180;0.093) CGCCCGCGCCATGGTAAGGAC 0.711000 9 14 0 0 1 0 0 RP11-1407O15.2 0 broad.mit.edu 37 17 36358981 36358981 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr17:36358981C>T ENST00000312412.4 - 6 709 c.710G>A c.(709-711)cGc>cAc p.R237H RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82H kidney(1)|lung(3) 4 AACAGGTGTGCGGGCAAACTT 0.353000 6 682 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49362451 49362451 + Missense_Mutation SNP C C T rs117411669 by1000genomes TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr3:49362451C>T ENST00000351842.4 - 5 517 c.509G>A c.(508-510)cGg>cAg p.R170Q USP4_ENST00000416417.1_Missense_Mutation_p.R170Q|USP4_ENST00000265560.4_Missense_Mutation_p.R170Q|USP4_ENST00000415188.1_Missense_Mutation_p.R170Q NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 170 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GAATAGCTTCCGCATCTCTTT 0.488000 102 150 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr2:97869931A>T ENST00000420699.2 + 50 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 6 41 0 0 1 0 0 AAAS 8086 broad.mit.edu 37 12 53703027 53703027 + Silent SNP G G C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr12:53703027G>C ENST00000209873.4 - 9 1014 c.849C>G c.(847-849)ccC>ccG p.P283P AAAS_ENST00000394384.3_Silent_p.P250P|AAAS_ENST00000550286.1_Silent_p.P159P NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 283 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 CTCGGAACCAGGGAAGGGGGA 0.572000 13 170 0 0 1 0 0 ERAL1 26284 broad.mit.edu 37 17 27186225 27186225 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr17:27186225C>T ENST00000254928.5 + 9 1212 c.1115C>T c.(1114-1116)aCa>aTa p.T372I NM_005702.2 NP_005693.1 O75616 ERAL1_HUMAN Era-like 12S mitochondrial rRNA chaperone 1 372 KH type-2. ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|ribosomal small subunit binding|rRNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) GTACAGAAGACAGCAGTGTGG 0.507000 59 86 0 0 1 0 0 SRGAP2 23380 broad.mit.edu 37 1 206634405 206634405 + Silent SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr1:206634405G>A ENST00000414007.1 + 19 2436 c.2436G>A c.(2434-2436)tcG>tcA p.S812S O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 952 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) CAATGAACTCGGCCCTGAATG 0.537000 15 55 0 0 1 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200801875 200801875 + Missense_Mutation SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr1:200801875T>C ENST00000358823.2 + 6 1099 c.829T>C c.(829-831)Tat>Cat p.Y277H CAMSAP2_ENST00000413307.2_Missense_Mutation_p.Y277H|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.Y288H NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 288 CH. cytoplasm|microtubule protein binding TGATAGCCTGTATAATCTGCA 0.343000 15 133 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216262396 216262396 + Missense_Mutation SNP T T A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr1:216262396T>A ENST00000366943.2 - 23 5230 c.4844A>T c.(4843-4845)cAt>cTt p.H1615L USH2A_ENST00000307340.3_Missense_Mutation_p.H1615L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1615 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAAAGCCTGATGCCTAATAGC 0.368000 HNSCC(13;0.011) 6 219 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940373 22940373 + Missense_Mutation SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr19:22940373T>C ENST00000397104.3 - 5 2064 c.2065A>G c.(2065-2067)Aag>Gag p.K689E ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E zinc finger protein 99 p.K689E(3) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGAATTATCTTATGTTTTCTA 0.343000 4 107 0 0 1 0 0 THRSP 7069 broad.mit.edu 37 11 77775098 77775098 + Silent SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr11:77775098C>T ENST00000281030.2 + 1 192 c.171C>T c.(169-171)taC>taT p.Y57Y NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron NM_003251.3 NP_003242.1 Q92748 THRSP_HUMAN thyroid hormone responsive 57 lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 7 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) CTGATCTCTACACCTACTTCA 0.632000 6 196 0 0 1 0 0 IL21R 50615 broad.mit.edu 37 16 27459933 27459933 + Missense_Mutation SNP G G T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr16:27459933G>T ENST00000337929.3 + 9 1419 c.946G>T c.(946-948)Gtg>Ttg p.V316L IL21R_ENST00000564089.1_Missense_Mutation_p.V316L|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.V316L|IL21R_ENST00000395755.1_Missense_Mutation_p.V316L|IL21R_ENST00000564583.1_3'UTR NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 316 natural killer cell activation integral to membrane interleukin-21 receptor activity breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 CACCCTGGAGGTGTACAGCTG 0.627000 T BCL6 NHL 13 89 9.31168e-06 9.67542e-06 1 1 0 CNGA3 1261 broad.mit.edu 37 2 99013230 99013230 + Missense_Mutation SNP G G T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr2:99013230G>T ENST00000393504.1 + 8 2014 c.1597G>T c.(1597-1599)Gat>Tat p.D533Y CNGA3_ENST00000436404.2_Missense_Mutation_p.D515Y|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537Y|CNGA3_ENST00000272602.2_Missense_Mutation_p.D533Y NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 533 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GGTGGCTGATGATGGGGTCAC 0.562000 18 235 6.94344e-10 7.69565e-10 1 1 0 ATP7A 538 broad.mit.edu 37 X 77254082 77254082 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:77254082G>A ENST00000341514.6 + 5 1599 c.1444G>A c.(1444-1446)Gag>Aag p.E482K ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E482K NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 482 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TCAAGACAAGGAGGAAGGAAA 0.428000 14 370 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36070536 36070536 + Missense_Mutation SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr17:36070536T>C ENST00000225893.4 - 5 1542 c.1181A>G c.(1180-1182)aAt>aGt p.N394S HNF1B_ENST00000561193.1_Missense_Mutation_p.N368S|HNF1B_ENST00000560016.1_Missense_Mutation_p.N394S|HNF1B_ENST00000427275.2_Missense_Mutation_p.N368S NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 394 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S388fs*4(1) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TGAGAGGAGATTGTGGCCTGG 0.522000 14 202 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104512798 104512798 + Missense_Mutation SNP A A G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr4:104512798A>G ENST00000304883.2 - 4 1071 c.931T>C c.(931-933)Tgc>Cgc p.C311R RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 311 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GGCAGCCAGCAGATAGCAAAT 0.338000 5 88 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135596191 135596191 + Missense_Mutation SNP A A C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr8:135596191A>C ENST00000520727.1 - 11 3034 c.2735T>G c.(2734-2736)cTc>cGc p.L912R ZFAT_ENST00000523399.1_Missense_Mutation_p.L862R|ZFAT_ENST00000520356.1_Missense_Mutation_p.L912R|ZFAT_ENST00000520214.1_Missense_Mutation_p.L912R|ZFAT_ENST00000377838.3_Missense_Mutation_p.L924R|ZFAT_ENST00000429442.2_Missense_Mutation_p.L912R|ZFAT_ENST00000517307.1_5'UTR NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 924 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) ATGAGCCTTGAGGTTACTCTT 0.403000 5 15 0 0 1 0 0 GAB3 139716 broad.mit.edu 37 X 153940503 153940503 + Splice_Site SNP C C A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:153940503C>A ENST00000369575.3 - 4 1098 c.e4+1 GAB3_ENST00000424127.2_Splice_Site|GAB3_ENST00000496390.1_Intron NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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) CCAACACTTACCTTTCCAGGT 0.507000 6 202 2.7689e-08 2.99401e-08 1 1 0 COMMD4 54939 broad.mit.edu 37 15 75630990 75630990 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr15:75630990G>A ENST00000267935.8 + 4 344 c.145G>A c.(145-147)Gag>Aag p.E49K COMMD4_ENST00000564815.1_Missense_Mutation_p.E27K|COMMD4_ENST00000567195.1_Missense_Mutation_p.E49K|COMMD4_ENST00000562789.1_Missense_Mutation_p.E55K|COMMD4_ENST00000338995.6_Missense_Mutation_p.E49K NM_017828.3 NP_060298.2 Q9H0A8 COMD4_HUMAN COMM domain containing 4 49 cytoplasm protein binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 10 CCCATAGTATGAGAAGATCCT 0.597000 3 31 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195513169 195513169 + Missense_Mutation SNP A A G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr3:195513169A>G ENST00000463781.3 - 2 5741 c.5282T>C c.(5281-5283)cTt>cCt p.L1761P MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L1761P|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 553 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGTGACAGGAAGAGGGGTGGC 0.582000 3 4 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76379755 76379755 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr13:76379755G>A ENST00000357063.3 + 10 2471 c.1211G>A c.(1210-1212)cGc>cAc p.R404H LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|LMO7_ENST00000321797.8_Missense_Mutation_p.R119H Q8WWI1 LMO7_HUMAN LIM domain 7 404 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) CTTTATGTGCGCAAGCTCAGT 0.413000 5 406 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148048608 148048608 + Splice_Site SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:148048608T>C ENST00000370460.2 + 14 3681 c.3203_splice c.e14+1 p.S1068_splice AFF2_ENST00000370457.5_Splice_Site_p.S1033_splice|AFF2_ENST00000342251.3_Splice_Site_p.S1035_splice|AFF2_ENST00000286437.5_Splice_Site_p.S709_splice NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1068 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TTTTGATGACTCGTATGTTGT 0.517000 7 230 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179472196 179472196 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr2:179472196C>T ENST00000589042.1 - 277 53443 c.53219G>A c.(53218-53220)gGc>gAc p.G17740D TTN_ENST00000591111.1_Missense_Mutation_p.G16099D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8675D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8800D|TTN_ENST00000342175.6_Missense_Mutation_p.G8867D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15172D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16099 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) CACATATCTGCCATGGTCTTT 0.413000 52 412 0 0 1 0 0 IL12RB2 3595 broad.mit.edu 37 1 67793919 67793919 + Silent SNP A A G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr1:67793919A>G ENST00000262345.1 + 5 1156 c.516A>G c.(514-516)caA>caG p.Q172Q IL12RB2_ENST00000371000.1_Silent_p.Q172Q|IL12RB2_ENST00000544434.1_Silent_p.Q172Q|IL12RB2_ENST00000541374.1_Silent_p.Q172Q NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 172 Fibronectin type-III 1. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 GGCAGAAGCAATGTAAAGACA 0.388000 107 180 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69168928 69168928 + Missense_Mutation SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr3:69168928T>C ENST00000420581.2 - 2 757 c.578A>G c.(577-579)gAc>gGc p.D193G LMOD3_ENST00000489031.1_Missense_Mutation_p.D193G|LMOD3_ENST00000475434.1_Missense_Mutation_p.D193G NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 193 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) GAATGCTTTGTCAGTTACCTG 0.408000 5 38 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46291958 46291958 + Splice_Site SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr20:46291958T>C ENST00000359930.4 - 17 3079 c.e17-2 SULF2_ENST00000467815.1_Splice_Site|SULF2_ENST00000361612.4_Splice_Site|SULF2_ENST00000484875.1_Splice_Site NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 AAGGCCCCACTGCCAAGGAAG 0.527000 OREG0026005 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 68 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32352678 32352678 + Missense_Mutation SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr13:32352678T>C ENST00000298386.2 + 9 814 c.743T>C c.(742-744)cTt>cCt p.L248P RXFP2_ENST00000380314.1_Missense_Mutation_p.L248P NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 248 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TTAGAAGCTCTTCCCAAGCAG 0.318000 5 238 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66931475 66931475 + Missense_Mutation SNP A A G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:66931475A>G ENST00000374690.3 + 4 2641 c.2117A>G c.(2116-2118)aAt>aGt p.N706S AR_ENST00000396043.2_Missense_Mutation_p.N174S|AR_ENST00000396044.3_Missense_Mutation_p.N706S NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 705 Interaction with MYST2.|Ligand-binding. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TCTAGCCTCAATGAACTGGGA 0.522000 Androgen Insensitivity Syndrome 8 61 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 77 91 0 0 1 0 0 MAGOH 4116 broad.mit.edu 37 1 53692748 53692748 + Missense_Mutation SNP A A G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr1:53692748A>G ENST00000371470.3 - 5 571 c.410T>C c.(409-411)aTt>aCt p.I137T MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 137 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding p.I137T(1) haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 GTGTAATCCAATAAGACTGAA 0.378000 4 85 0 0 1 0 0 JMJD6 23210 broad.mit.edu 37 17 74722545 74722545 + Missense_Mutation SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr17:74722545T>C ENST00000445478.2 - 1 216 c.13A>G c.(13-15)Agc>Ggc p.S5G JMJD6_ENST00000585429.1_Missense_Mutation_p.S5G|JMJD6_ENST00000397625.4_Missense_Mutation_p.S5G NM_001081461.1 NP_001074930.1 Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 5 mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2) 16 CGCTTCTTGCTCTTGTGGTTC 0.667000 36 47 0 0 1 0 0 COMMD4 54939 broad.mit.edu 37 15 75631004 75631004 + Silent SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr15:75631004G>A ENST00000267935.8 + 4 358 c.159G>A c.(157-159)aaG>aaA p.K53K COMMD4_ENST00000564815.1_Silent_p.K31K|COMMD4_ENST00000567195.1_Silent_p.K53K|COMMD4_ENST00000562789.1_Silent_p.K59K|COMMD4_ENST00000338995.6_Silent_p.K53K NM_017828.3 NP_060298.2 Q9H0A8 COMD4_HUMAN COMM domain containing 4 53 cytoplasm protein binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1) 10 AGATCCTGAAGCTCACGGCTG 0.612000 3 31 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45132791 45132791 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr3:45132791C>T ENST00000296129.1 - 7 2001 c.1867G>A c.(1867-1869)Gag>Aag p.E623K NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 623 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) AGCACATCCTCGTCCAGGCTG 0.592000 18 135 0 0 1 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350344 51350344 + Missense_Mutation SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr15:51350344T>C ENST00000327536.5 - 3 712 c.613A>G c.(613-615)Atg>Gtg p.M205V RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 205 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) ACAATGGTCATGGCGGTCTGG 0.512000 39 134 0 0 1 0 0 SUCNR1 56670 broad.mit.edu 37 3 151598945 151598945 + Missense_Mutation SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr3:151598945T>C ENST00000362032.4 + 3 719 c.614T>C c.(613-615)tTc>tCc p.F205S RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_033050.4 NP_149039.2 Q9BXA5 SUCR1_HUMAN succinate receptor 1 205 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) GTGATGTGTTTCTTTTATTAC 0.428000 6 228 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6174830 6174830 + Missense_Mutation SNP G G A rs143711562 byFrequency TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr6:6174830G>A ENST00000264870.3 - 12 1995 c.1730C>T c.(1729-1731)aCg>aTg p.T577M NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 577 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.T577M(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGGCTCCAGCGTCACGTCGAA 0.512000 17 234 0 0 1 0 0 LHFPL1 340596 broad.mit.edu 37 X 111914414 111914414 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:111914414G>A ENST00000371968.3 - 2 444 c.205C>T c.(205-207)Cgc>Tgc p.R69C LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C NM_178175.3 NP_835469.1 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 69 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6) 13 CTGGCATAGCGCCCACATTCT 0.592000 94 122 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 4 80 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2210033 2210033 + Missense_Mutation SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr4:2210033T>C ENST00000511885.2 - 5 748 c.395A>G c.(394-396)aAg>aGg p.K132R POLN_ENST00000382865.1_Missense_Mutation_p.K132R|POLN_ENST00000515357.1_5'UTR Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 132 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) TTTATGCCCCTTTTTCTGTAG 0.313000 DNA polymerases (catalytic subunits) 4 263 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56085997 56085997 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr11:56085997G>A ENST00000312711.1 + 1 215 c.215G>A c.(214-216)gGt>gAt p.G72D NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) ATGGATCTTGGTTATTCAACA 0.378000 126 203 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67058751 67058751 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr3:67058751G>A ENST00000295568.4 + 4 1801 c.1670G>A c.(1669-1671)cGg>cAg p.R557Q KBTBD8_ENST00000417314.2_Missense_Mutation_p.R583Q|KBTBD8_ENST00000460576.1_Missense_Mutation_p.R141Q NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 583 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) GACCTTGGCCGGCATTTTGAA 0.443000 11 145 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685442 100685442 + Missense_Mutation SNP T T A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr7:100685442T>A ENST00000306151.4 + 3 10809 c.10745T>A c.(10744-10746)cTc>cAc p.L3582H NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3582 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACAACTATGCTCCTCAGCAGC 0.473000 146 166 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284144 159284144 + Silent SNP G G T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr1:159284144G>T ENST00000332217.5 - 1 305 c.306C>A c.(304-306)ctC>ctA p.L102L NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GATAGAAGAAGAGCTGAGTGG 0.502000 19 130 2.94398e-08 3.15766e-08 1 1 0 SMARCC1 6599 broad.mit.edu 37 3 47762184 47762184 + Missense_Mutation SNP A A C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr3:47762184A>C ENST00000254480.5 - 7 807 c.688T>G c.(688-690)Tta>Gta p.L230V SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 230 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) CAATGCACTAACACTTGCTTC 0.353000 45 338 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153251912 153251912 + Missense_Mutation SNP C C G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr4:153251912C>G ENST00000281708.4 - 7 2323 c.1094G>C c.(1093-1095)tGg>tCg p.W365S FBXW7_ENST00000603841.1_Missense_Mutation_p.W365S|FBXW7_ENST00000603548.1_Missense_Mutation_p.W365S|FBXW7_ENST00000393956.3_Missense_Mutation_p.W189S|FBXW7_ENST00000263981.5_Missense_Mutation_p.W285S|FBXW7_ENST00000296555.5_Missense_Mutation_p.W247S NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 365 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCCTCGCCTCCAGTTAGTATC 0.398000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 11 277 0 0 1 0 0 CCDC58 131076 broad.mit.edu 37 3 122090540 122090540 + Missense_Mutation SNP A A C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr3:122090540A>C ENST00000291458.5 - 2 165 c.159T>G c.(157-159)tgT>tgG p.C53W CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000479899.1_Missense_Mutation_p.C39W NM_001017928.2 NP_001017928.1 Q4VC31 CCD58_HUMAN coiled-coil domain containing 58 53 large_intestine(1)|lung(1) 2 GBM - Glioblastoma multiforme(114;0.148) AAAGTTGTTTACAGGTTTGGC 0.373000 80 126 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125631651 125631651 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr4:125631651C>T ENST00000504087.1 - 2 1053 c.16G>A c.(16-18)Gaa>Aaa p.E6K ANKRD50_ENST00000515641.1_Intron NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 6 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 ACTTTCTCTTCCCAAGGATTA 0.408000 28 287 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50810826 50810826 + Silent SNP G G T rs151001753 byFrequency TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr6:50810826G>T ENST00000263046.4 + 8 1297 c.1131G>T c.(1129-1131)acG>acT p.T377T TFAP2B_ENST00000393655.3_Silent_p.T368T Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 368 QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) AAGAATTTACGGATCTACTGG 0.557000 37 265 2.51541e-25 2.90913e-25 1 1 0 OR52E6 390078 broad.mit.edu 37 11 5862807 5862807 + Missense_Mutation SNP A A C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr11:5862807A>C ENST00000329322.5 - 1 320 c.321T>G c.(319-321)caT>caG p.H107Q TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.H111Q NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGTGAAGAAATGGATGAAGA 0.463000 31 344 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433268 104433268 + Missense_Mutation SNP G G T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr9:104433268G>T ENST00000361820.3 - 3 2026 c.1426C>A c.(1426-1428)Cca>Aca p.P476T NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 476 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GTCCACATTGGCTTTCCCATG 0.507000 26 321 1.77063e-15 1.99571e-15 1 1 0 TCERG1 10915 broad.mit.edu 37 5 145838643 145838643 + Missense_Mutation SNP A A C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr5:145838643A>C ENST00000296702.5 + 4 673 c.635A>C c.(634-636)cAg>cCg p.Q212P TCERG1_ENST00000394421.2_Missense_Mutation_p.Q212P NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 212 Ala/Gln-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) gctcaggcccaggcccaggcc 0.736000 22 55 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 5 91 0.014758 0.014758 1 1 0 ZNF99 7652 broad.mit.edu 37 19 22940995 22940995 + Missense_Mutation SNP T T A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr19:22940995T>A ENST00000397104.3 - 5 1442 c.1443A>T c.(1441-1443)aaA>aaT p.K481N ZNF99_ENST00000596209.1_Missense_Mutation_p.K572N zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GCTTAAAAGCTTTGCCACATT 0.358000 12 99 0 0 1 0 0 HVCN1 84329 broad.mit.edu 37 12 111099001 111099001 + Silent SNP A A G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr12:111099001A>G ENST00000356742.5 - 3 1027 c.274T>C c.(274-276)Ttg>Ctg p.L92L HVCN1_ENST00000439744.2_Silent_p.L72L|HVCN1_ENST00000548312.1_Silent_p.L92L|HVCN1_ENST00000242607.8_Silent_p.L92L Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 92 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 AGTTTCCTCAACATGCCCCTG 0.652000 46 99 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34053878 34053878 + Silent SNP T T A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr21:34053878T>A ENST00000382499.2 - 11 1397 c.1398A>T c.(1396-1398)tcA>tcT p.S466S SYNJ1_ENST00000433931.2_Silent_p.S466S|SYNJ1_ENST00000322229.7_Silent_p.S427S|SYNJ1_ENST00000382491.3_Silent_p.S427S|SYNJ1_ENST00000357345.3_Silent_p.S427S NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 427 inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 CGGACCACATTGACCGAAAAA 0.393000 9 264 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781870 128781870 + Silent SNP C C A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr11:128781870C>A ENST00000529694.1 + 2 1078 c.702C>A c.(700-702)atC>atA p.I234I KCNJ5_ENST00000533599.1_Silent_p.I234I|KCNJ5_ENST00000338350.4_Silent_p.I234I NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 234 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) AGGCCTCCATCCGGGCCAAGC 0.607000 6 164 0.00116845 0.00119541 1 1 0 ACACB 32 broad.mit.edu 37 12 109610081 109610081 + Splice_Site SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr12:109610081C>T ENST00000338432.7 + 6 1156 c.1035_splice c.e6-1 p.A346_splice ACACB_ENST00000377848.3_Splice_Site_p.A346_splice|ACACB_ENST00000377854.5_Splice_Site_p.A346_splice O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 346 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TGTTTGCAGGCGGTGTGGGCT 0.532000 188 351 0 0 1 0 0 MTM1 4534 broad.mit.edu 37 X 149828189 149828189 + Missense_Mutation SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:149828189T>C ENST00000370396.2 + 12 1367 c.1313T>C c.(1312-1314)tTt>tCt p.F438S MTM1_ENST00000413012.2_Missense_Mutation_p.F401S|MTM1_ENST00000542741.1_Missense_Mutation_p.F343S|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.F323S NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 438 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCTATTTTTCTCCAGTTT 0.313000 9 127 0 0 1 0 0 SLC39A4 55630 broad.mit.edu 37 8 145638211 145638211 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr8:145638211C>T ENST00000276833.5 - 10 1975 c.1672G>A c.(1672-1674)Gag>Aag p.E558K SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_Missense_Mutation_p.E583K NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 583 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) TCGCTCTCCTCGCTGACTCCA 0.677000 19 32 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15254949 15254949 + Missense_Mutation SNP C C G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr10:15254949C>G ENST00000378116.4 - 8 2644 c.2638G>C c.(2638-2640)Gag>Cag p.E880Q NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 880 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GGCCTCTCCTCCCGTTTCTGC 0.507000 19 244 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5662580 5662580 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr7:5662580G>A ENST00000425013.2 - 17 2736 c.2512C>T c.(2512-2514)Cgg>Tgg p.R838W RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895W NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 838 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding p.R895W(1) FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TAGTTGACCCGCACGTTGGGC 0.642000 5 248 0 0 1 0 0 RAP2C 57826 broad.mit.edu 37 X 131351247 131351247 + Missense_Mutation SNP G G T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:131351247G>T ENST00000342983.2 - 2 796 c.50C>A c.(49-51)tCt>tAt p.S17Y RP5-842K24.2_ENST00000421483.1_RNA|RAP2C_ENST00000460462.1_Intron|RAP2C_ENST00000370874.1_Missense_Mutation_p.S17Y NM_001271186.1|NM_001271187.1|NM_021183.3 NP_001258115.1|NP_001258116.1|NP_067006.3 Q9Y3L5 RAP2C_HUMAN RAP2C, member of RAS oncogene family 17 negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2) 8 Acute lymphoblastic leukemia(192;0.000127) AGTAAGGGCAGATTTGCCAAC 0.507000 7 523 5.4927e-09 5.98795e-09 1 1 0 C3 718 broad.mit.edu 37 19 6702526 6702526 + Missense_Mutation SNP G G T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr19:6702526G>T ENST00000245907.6 - 18 2402 c.2310C>A c.(2308-2310)agC>agA p.S770R NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 770 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TCCACAGCCAGCTCTCTGGGA 0.517000 79 93 1.55521e-42 1.83047e-42 1 1 0 METAP1D 254042 broad.mit.edu 37 2 172926348 172926348 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr2:172926348C>T ENST00000315796.4 + 2 550 c.163C>T c.(163-165)Ccg>Tcg p.P55S METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 55 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 TATAGTTTTGCCGGCTGCAGT 0.398000 7 702 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50168650 50168650 + Missense_Mutation SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr15:50168650T>C ENST00000284509.6 - 25 2993 c.2852A>G c.(2851-2853)aAc>aGc p.N951S ATP8B4_ENST00000559829.1_Missense_Mutation_p.N951S NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 951 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTTACGCTTGTTAAAAAGCAG 0.443000 4 92 0 0 1 0 0 CEACAM4 1089 broad.mit.edu 37 19 42132119 42132119 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr19:42132119C>T ENST00000221954.2 - 2 390 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 94 Ig-like V-type. integral to plasma membrane|membrane fraction p.A94T(1) NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 CCACTGTATGCGGCCCCTGGG 0.488000 6 366 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241886728 241886728 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr1:241886728C>T ENST00000366552.2 + 9 1361 c.1154C>T c.(1153-1155)tCc>tTc p.S385F WDR64_ENST00000437684.2_Missense_Mutation_p.S385F NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 385 p.S385Y(1)|p.S105Y(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) GTCAGCCTTTCCTCTGCAAAG 0.383000 17 39 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110477389 110477389 + Silent SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr8:110477389C>T ENST00000378402.5 + 49 8432 c.8328C>T c.(8326-8328)gaC>gaT p.D2776D NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2776 immune response cytosol|extracellular space|integral to membrane receptor activity p.D2778D(2) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGTTTGTTGACGTCCAGTATT 0.433000 HNSCC(38;0.096) 12 130 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104086 53104086 + Missense_Mutation SNP G G T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr7:53104086G>T ENST00000408890.4 + 1 738 c.722G>T c.(721-723)gGc>gTc p.G241V NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 241 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCGAGCCTCGGCCCCTGGAGC 0.647000 5 100 4.096e-09 4.50221e-09 1 1 0 HSPA14 51182 broad.mit.edu 37 10 14891775 14891775 + Silent SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr10:14891775G>A ENST00000378372.3 + 6 671 c.432G>A c.(430-432)ccG>ccA p.P144P NM_016299.2 NP_057383.2 Q0VDF9 HSP7E_HUMAN heat shock 70kDa protein 14 144 'de novo' cotranslational protein folding cytosol ATP binding|protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 17 TTACTGTCCCGTTTGATTTTG 0.323000 52 84 0 0 1 0 0 HACE1 57531 broad.mit.edu 37 6 105177553 105177553 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr6:105177553C>T ENST00000262903.4 - 24 2990 c.2714G>A c.(2713-2715)gGt>gAt p.G905D HACE1_ENST00000369125.2_Missense_Mutation_p.G690D|HACE1_ENST00000517995.1_5'UTR NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 905 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) CATTGTGTAACCATAGCTGCC 0.383000 21 180 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27410369 27410369 + Missense_Mutation SNP G G C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr10:27410369G>C ENST00000326799.3 - 13 1563 c.1415C>G c.(1414-1416)cCc>cGc p.P472R YME1L1_ENST00000376016.3_Missense_Mutation_p.P415R|YME1L1_ENST00000375972.3_Missense_Mutation_p.P382R NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 472 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TCCTTCATTGGGTTTAAAACT 0.318000 19 247 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21209105 21209105 + Nonsense_Mutation SNP C C A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr16:21209105C>A ENST00000574002.1 - 19 2559 c.2077G>T c.(2077-2079)Gag>Tag p.E693* ZP2_ENST00000574091.1_Nonsense_Mutation_p.E684*|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Nonsense_Mutation_p.E693* Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 693 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) CCAACCTCCTCCCCTGTTTCA 0.468000 65 123 1.59245e-42 1.85786e-42 1 1 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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) 31 9 0 0 1 0 0 SIAH1 6477 broad.mit.edu 37 16 48396115 48396115 + Nonsense_Mutation SNP G G T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr16:48396115G>T ENST00000380006.2 - 1 1678 c.225C>A c.(223-225)tgC>tgA p.C75* SIAH1_ENST00000356721.3_Nonsense_Mutation_p.C106*|SIAH1_ENST00000394725.2_Nonsense_Mutation_p.C75* Q8IUQ4 SIAH1_HUMAN siah E3 ubiquitin protein ligase 1 75 axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1) 7 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) AAGGGCCCCGGCAAGTTGGAC 0.468000 49 77 6.08268e-21 6.9145e-21 1 1 0 APP 351 broad.mit.edu 37 21 27462309 27462309 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr21:27462309C>T ENST00000358918.3 - 3 504 c.305G>A c.(304-306)cGc>cAc p.R102H APP_ENST00000359726.3_Missense_Mutation_p.R102H|APP_ENST00000439274.2_Missense_Mutation_p.R46H|APP_ENST00000348990.5_Missense_Mutation_p.R102H|APP_ENST00000346798.3_Missense_Mutation_p.R102H|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_Missense_Mutation_p.R102H|APP_ENST00000440126.3_Missense_Mutation_p.R97H|APP_ENST00000448388.2_Missense_Mutation_p.R67H|APP_ENST00000354192.3_Missense_Mutation_p.R46H NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 102 Heparin-binding. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) GCACTGCTTGCGGCCCCGCTT 0.582000 4 155 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99013232 99013232 + Missense_Mutation SNP T T A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr2:99013232T>A ENST00000393504.1 + 8 2016 c.1599T>A c.(1597-1599)gaT>gaA p.D533E CNGA3_ENST00000436404.2_Missense_Mutation_p.D515E|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537E|CNGA3_ENST00000272602.2_Missense_Mutation_p.D533E NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 533 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 TGGCTGATGATGGGGTCACCC 0.562000 17 237 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10359013 10359013 + Missense_Mutation SNP T T C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr17:10359013T>C ENST00000255381.2 - 19 2202 c.2092A>G c.(2092-2094)Agg>Ggg p.R698G CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 698 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CCGTTACACCTCAGCTGATGC 0.488000 4 135 0 0 1 0 0 LRRC56 115399 broad.mit.edu 37 11 550110 550110 + Missense_Mutation SNP C C A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr11:550110C>A ENST00000270115.7 + 8 962 c.462C>A c.(460-462)agC>agA p.S154R NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 154 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGGACCTGAGCCCACTGTGCC 0.677000 13 116 3.27435e-08 3.48391e-08 1 1 0 ATRX 546 broad.mit.edu 37 X 76812938 76812938 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:76812938G>A ENST00000373344.5 - 30 6897 c.6683C>T c.(6682-6684)aCt>aTt p.T2228I ATRX_ENST00000395603.3_Missense_Mutation_p.T2190I|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2228 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CAGCATGGGAGTATCCCTCTT 0.348000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 144 207 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87145840 87145840 + Silent SNP C C T rs138566631 byFrequency TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr7:87145840C>T ENST00000265724.3 - 25 3486 c.3069G>A c.(3067-3069)acG>acA p.T1023T ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.T959T NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1023 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.T1023T(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTAGGCCTTCCGTGCTGTAGC 0.388000 4 181 0 0 1 0 0 SLC25A14 9016 broad.mit.edu 37 X 129480618 129480618 + Silent SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:129480618G>A ENST00000543953.1 + 3 214 c.165G>A c.(163-165)gcG>gcA p.A55A SLC25A14_ENST00000545805.1_Silent_p.A90A|SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000218197.5_Silent_p.A90A|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.A87A O95258 UCP5_HUMAN solute carrier family 25 (mitochondrial carrier, brain), member 14 90 E -> A (in dbSNP:rs2143598). aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1) 22 TGTTCCATGCGCTGTTTCGCA 0.423000 30 286 0 0 1 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789589 6789589 + Silent SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr11:6789589G>A ENST00000338569.2 - 1 697 c.600C>T c.(598-600)taC>taT p.Y200Y NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CACCTGTCACGTATATTATAA 0.493000 7 52 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072192 9072192 + Missense_Mutation SNP G G T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr19:9072192G>T ENST00000397910.4 - 3 15457 c.15254C>A c.(15253-15255)aCa>aAa p.T5085K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5087 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCCAAGCGTGTACGTAATAT 0.433000 4 220 2.56e-06 2.68094e-06 1 1 0 TRAF4 9618 broad.mit.edu 37 17 27074931 27074931 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr17:27074931G>A ENST00000262395.5 + 3 395 c.266G>A c.(265-267)gGc>gAc p.G89D TRAF4_ENST00000444415.3_Missense_Mutation_p.G89D|TRAF4_ENST00000262396.6_Missense_Mutation_p.G89D NM_004295.3 NP_004286.2 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 89 apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) AGTGAGGAGGGCTGCCGCTGG 0.612000 28 25 0 0 1 0 0 RUNX1 861 broad.mit.edu 37 21 36164874 36164874 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr21:36164874C>T ENST00000344691.4 - 6 2497 c.920G>A c.(919-921)cGc>cAc p.R307H RUNX1_ENST00000325074.5_Missense_Mutation_p.R322H|RUNX1_ENST00000437180.1_Missense_Mutation_p.R334H|RUNX1_ENST00000300305.3_Missense_Mutation_p.R334H|RUNX1_ENST00000399240.1_Missense_Mutation_p.R243H NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 307 Interaction with MYST3.|Interaction with MYST4 (By similarity).|Pro/Ser/Thr-rich. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 GGGGAACTGGCGCGGGTCGCT 0.687000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 14 14 0 0 1 0 0 NAT2 10 broad.mit.edu 37 8 18257674 18257674 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr8:18257674C>T ENST00000286479.3 + 2 268 c.161C>T c.(160-162)gCt>gTt p.A54V NAT2_ENST00000520116.1_Intron NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 (arylamine N-acetyltransferase) 54 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2) 12 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) GGCTTAGAGGCTATTTTTGAT 0.473000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 87 186 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511945 195511945 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr3:195511945G>A ENST00000463781.3 - 2 6965 c.6506C>T c.(6505-6507)gCa>gTa p.A2169V MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A2169V|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 948 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.A2169V(4) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCTGTGGATGCTGAGGAAGT 0.572000 3 4 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109694101 109694101 + Missense_Mutation SNP G G C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:109694101G>C ENST00000465301.2 + 3 502 c.256G>C c.(256-258)Gca>Cca p.A86P RGAG1_ENST00000540313.1_Missense_Mutation_p.A86P NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 86 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 AAACTCTGGAGCATTGTCCCC 0.542000 OREG0019909 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 483 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55419188 55419188 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr11:55419188C>T ENST00000312422.2 + 1 809 c.809C>T c.(808-810)gCt>gTt p.A270V NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) AAGATGGTGGCTGTATTTTAC 0.423000 41 165 0 0 1 0 0 RNASE3 6037 broad.mit.edu 37 14 21360166 21360166 + Missense_Mutation SNP A A T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr14:21360166A>T ENST00000304639.3 + 2 379 c.321A>T c.(319-321)ttA>ttT p.L107F NM_002935.2 NP_002926.2 P12724 ECP_HUMAN ribonuclease, RNase A family, 3 107 defense response to bacterium|RNA catabolic process extracellular region|soluble fraction nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1) 9 all_cancers(95;0.00453) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) Pranlukast(DB01411) GGGTGCCTTTACTCCACTGTG 0.428000 6 152 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111097327 111097327 + Missense_Mutation SNP G G A TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:111097327G>A ENST00000262839.2 - 4 1826 c.908C>T c.(907-909)gCt>gTt p.A303V NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 303 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GTTGGGCTGAGCAACAAACTG 0.488000 3 37 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102056150 102056150 + Missense_Mutation SNP A A G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr12:102056150A>G ENST00000549145.1 + 20 2111 c.2011A>G c.(2011-2013)Agg>Ggg p.R671G MYBPC1_ENST00000361466.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R639G|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R645G|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R646G|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R644G|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R559G|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R632G|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R658G Q00872 MYPC1_HUMAN myosin binding protein C, slow type 658 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TTTTATTGAGAGGAAGAAGAA 0.363000 12 77 0 0 1 0 0 NEU3 10825 broad.mit.edu 37 11 74716640 74716640 + Nonsense_Mutation SNP C C G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr11:74716640C>G ENST00000294064.4 + 3 1416 c.489C>G c.(487-489)taC>taG p.Y163* NEU3_ENST00000531509.1_Nonsense_Mutation_p.Y163*|NEU3_ENST00000529024.1_Missense_Mutation_p.Q93E|NEU3_ENST00000532963.1_Missense_Mutation_p.Q93E|NEU3_ENST00000545272.1_Nonsense_Mutation_p.Y54*|NEU3_ENST00000544263.1_Nonsense_Mutation_p.Y130* NM_006656.5 NP_006647.3 A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 163 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 GCTTCATCTACAGTCAGGATG 0.547000 63 108 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39909586 39909586 + Missense_Mutation SNP G G C TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr19:39909586G>C ENST00000425673.1 + 11 1531 c.1206G>C c.(1204-1206)tgG>tgC p.W402C PLEKHG2_ENST00000378550.1_Missense_Mutation_p.W402C|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.W402C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.W343C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.W402C Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 402 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGAGGCTGTGGATTCACTGTC 0.617000 32 224 0 0 1 0 0 SSX7 280658 broad.mit.edu 37 X 52681398 52681398 + Splice_Site SNP C C G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:52681398C>G ENST00000298181.5 - 4 343 c.e4-1 NM_173358.2 NP_775494.1 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) GCCTTGAAGCCTAGAAAGAAG 0.483000 21 143 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46846534 46846534 + Silent SNP G G T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr17:46846534G>T ENST00000393382.3 - 15 2634 c.2493C>A c.(2491-2493)ctC>ctA p.L831L TTLL6_ENST00000433608.2_Silent_p.L524L NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 783 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GACTCTGCAAGAGGAGGGAGG 0.572000 8 95 0.00448238 0.00455081 1 1 0 TENM1 10178 broad.mit.edu 37 X 123615606 123615606 + Missense_Mutation SNP C C G TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chrX:123615606C>G ENST00000422452.2 - 22 3988 c.3925G>C c.(3925-3927)Gaa>Caa p.E1309Q TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.E1302Q NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AGTGAAGCTTCCGATGCTCTC 0.378000 55 61 0 0 1 0 0 TRABD2A 129293 broad.mit.edu 37 2 85097395 85097395 + Frame_Shift_Del DEL T T - TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr2:85097395delT ENST00000335459.5 - 2 828 c.623delA c.(622-624)agfs p.K208fs TRABD2A_ENST00000409520.2_Frame_Shift_Del_p.K208fs|TRABD2A_ENST00000409133.1_Frame_Shift_Del_p.K208fs NM_001080824.1 NP_001074293.1 TraB domain containing 2A CTCTTCCACCTTTTCCACTGC 0.493 7 366 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179616389 179616392 + Frame_Shift_Del DEL ACCT ACCT - TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr2:179616389_179616392delACCT ENST00000360870.5 - 46 10957_10960 c.10735_10738delAGGT c.(10735-10740)tafs p.RL3579fs TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3574 Ig-like 21. 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) ATTGCTAGTAACCTATAACTTCCA 0.377 11 312 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217475031 217475032 + RNA INS - - A rs71401156 TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr2:217475031_217475032insA ENST00000441803.1 + 0 195 AATTTTATTTCAAAAAAAAAAA 0.376 7 18 --- --- --- --- RP11-556I14.1 0 broad.mit.edu 37 4 105918246 105918247 + RNA INS - - TT rs145057012 TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr4:105918246_105918247insTT ENST00000506386.1 + 0 71 tttttttttccttttttttttt 0.317 4 3 --- --- --- --- SLC9A3 6550 broad.mit.edu 37 5 524298 524298 + Frame_Shift_Del DEL A A - TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr5:524298delA ENST00000264938.3 - 1 149 c.140delT c.(139-141)tcfs p.F47fs SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.F47fs NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 47 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GGCCCACTCGAAGGTGACCAC 0.731 2 4 --- --- --- --- AC009518.5 0 broad.mit.edu 37 7 131628169 131628169 + RNA DEL T T - TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr7:131628169delT ENST00000415393.1 + 0 1006 TCCCTAGTCCTTCCAGGGCAT 0.572 2 4 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 10 265 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102306788 102306790 + RNA DEL GTA GTA - TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr15:102306788_102306790delGTA ENST00000561463.1 + 0 13180 TTAGTCTGTTGTAGTGGTGAGCT 0.507 3 5 --- --- --- --- NWD1 284434 broad.mit.edu 37 19 16908642 16908642 + Frame_Shift_Del DEL T T - TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 542737ea-d286-472a-b077-6f763a137424 a743148a-1d09-4c80-a096-48eec44e65e8 g.chr19:16908642delT ENST00000524140.2 + 16 3822 c.3404delT c.(3403-3405)gtfs p.V1135fs NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1135 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GAGACGGCTGTTTTTGGTACT 0.552 7 636 --- --- --- ---