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 ARID1A 8289 broad.mit.edu 37 1 27088651 27088651 + Nonsense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:27088651C>T ENST00000324856.7 + 7 2631 c.2260C>T c.(2260-2262)Cag>Tag p.Q754* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q754*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q371* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 754 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q754*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGGTTATATGCAGAGGAACCC 0.498000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 5 87 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56436943 56436943 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr16:56436943G>A ENST00000290649.5 - 7 1138 c.928C>T c.(928-930)Cgt>Tgt p.R310C NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 310 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding p.R310C(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 TTGTGCCGACGAATTCGACGT 0.428000 25 55 0 0 1 0 0 TBC1D19 55296 broad.mit.edu 37 4 26675489 26675489 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr4:26675489G>C ENST00000264866.4 + 11 1073 c.795G>C c.(793-795)ttG>ttC p.L265F TBC1D19_ENST00000511789.1_Missense_Mutation_p.L200F NM_018317.2 NP_060787.2 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 265 Rab-GAP TBC. intracellular Rab GTPase activator activity p.L265F(1) breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) CTCTCATTTTGAATATTTCCA 0.393000 5 17 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028392 59028392 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:59028392C>T ENST00000594051.1 - 2 1129 c.649G>A c.(649-651)Gag>Aag p.E217K ZBTB45_ENST00000600990.1_Missense_Mutation_p.E217K|ZBTB45_ENST00000354590.3_Missense_Mutation_p.E217K Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E217K(1) breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) CCATCGGTCTCATCGTCACTT 0.652000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 324 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72139160 72139160 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:72139160G>A ENST00000555818.1 + 9 3273 c.2925G>A c.(2923-2925)gcG>gcA p.A975A SIPA1L1_ENST00000358550.2_Silent_p.A975A|SIPA1L1_ENST00000537413.1_Silent_p.A450A|SIPA1L1_ENST00000381232.3_Silent_p.A975A NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 975 PDZ. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity p.A975A(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GCATTGTGGCGGATGTGGAGC 0.562000 23 34 0 0 1 0 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 3 45 0 0 1 0 0 OPN3 23596 broad.mit.edu 37 1 241767856 241767856 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:241767856G>A ENST00000366554.2 - 2 505 c.399C>T c.(397-399)acC>acT p.T133T OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR NM_014322.2 NP_055137.2 Q9H1Y3 OPN3_HUMAN opsin 3 133 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity p.T133T(1) endometrium(1)|large_intestine(5)|lung(5) 11 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) AGGCCAGCACGGTTAGGGTGG 0.507000 6 25 0 0 1 0 0 FTL 2512 broad.mit.edu 37 19 49469553 49469553 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:49469553G>C ENST00000331825.6 + 3 472 c.265G>C c.(265-267)Gag>Cag p.E89Q NM_000146.3 NP_000137.2 P02792 FRIL_HUMAN ferritin, light polypeptide 89 Ferritin-like diiron. E -> W (in Ref. 12; AA sequence). cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity p.E89Q(1) cervix(1)|kidney(3)|lung(5) 9 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) AGCTGAAGATGAGTGGGGTAA 0.512000 15 31 0 0 1 0 0 OTX1 5013 broad.mit.edu 37 2 63280140 63280140 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:63280140C>T ENST00000282549.2 + 3 291 c.15C>T c.(13-15)ctC>ctT p.L5L OTX1_ENST00000366671.3_Silent_p.L5L NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 5 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L5L(1) endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) TGTCTTACCTCAAACAACCCC 0.687000 18 92 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38274173 38274173 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr22:38274173G>A ENST00000412331.2 + 11 2152 c.1570G>A c.(1570-1572)Gat>Aat p.D524N EIF3L_ENST00000406934.1_Missense_Mutation_p.D426N|EIF3L_ENST00000381683.6_Missense_Mutation_p.D476N NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 524 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity p.D524N(1) kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CTTCTACATTGATAAGGTATG 0.453000 17 31 0 0 1 0 0 SLC12A9 56996 broad.mit.edu 37 7 100457570 100457570 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr7:100457570G>C ENST00000354161.3 + 8 1166 c.1041G>C c.(1039-1041)ttG>ttC p.L347F SLC12A9_ENST00000540482.1_Missense_Mutation_p.L347F|SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000275729.3_Missense_Mutation_p.L258F|SLC12A9_ENST00000428758.1_Missense_Mutation_p.L347F|SLC12A9_ENST00000415287.1_Missense_Mutation_p.L258F NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 347 integral to membrane|plasma membrane cation:chloride symporter activity p.L347F(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) CACTGGTGTTGATCGGAATCT 0.597000 25 53 0 0 1 0 0 IL10RB 3588 broad.mit.edu 37 21 34649001 34649001 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr21:34649001G>A ENST00000290200.2 + 3 382 c.274G>A c.(274-276)Gaa>Aaa p.E92K AP000295.9_ENST00000433395.2_Silent_p.L219L NM_000628.4 NP_000619.3 interleukin 10 receptor, beta p.E92K(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 AGTCAGGGCTGAATTTGCAGA 0.393000 45 77 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 180014079 180014079 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:180014079C>T ENST00000428443.3 - 7 842 c.526G>A c.(526-528)Gaa>Aaa p.E176K NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 176 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding p.E176K(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) AAAGCAAGTTCATCTAATAAT 0.289000 6 12 0 0 1 0 0 UBQLNL 143630 broad.mit.edu 37 11 5536678 5536678 + Missense_Mutation SNP T T G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:5536678T>G ENST00000380184.1 - 1 1257 c.994A>C c.(994-996)Atc>Ctc p.I332L HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 332 p.I332L(1) endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CTATTATAGATGACTCGGGTT 0.498000 30 56 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3156082 3156082 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr4:3156082G>A ENST00000355072.5 + 27 3706 c.3561G>A c.(3559-3561)gaG>gaA p.E1187E NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1187 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding p.E1187E(1) breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AGGGGAAGGAGAAAGAACCAG 0.473000 4 9 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60655841 60655841 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:60655841G>A ENST00000582809.1 + 15 1448 c.745G>A c.(745-747)Gaa>Aaa p.E249K TLK2_ENST00000542523.1_Missense_Mutation_p.E366K|TLK2_ENST00000343388.7_Missense_Mutation_p.E366K|TLK2_ENST00000346027.5_Missense_Mutation_p.E398K|TLK2_ENST00000326270.9_Missense_Mutation_p.E420K Q86UE8 TLK2_HUMAN tousled-like kinase 2 420 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.E420K(1)|p.E397K(1)|p.E398K(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 GCTTTAGGAGGAAGCAGAGAT 0.368000 8 32 0 0 1 0 0 OR4D6 219983 broad.mit.edu 37 11 59224646 59224646 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:59224646C>T ENST00000300127.2 + 1 236 c.213C>T c.(211-213)atC>atT p.I71I NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I71I(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 TCCTGGACATCGTTTTTTCAT 0.463000 19 55 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25263896 25263896 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr20:25263896G>A ENST00000216962.4 + 13 1713 c.1603G>A c.(1603-1605)Gtg>Atg p.V535M NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 535 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding p.V535M(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) CATCAGGGACGTGGCCAAGGT 0.622000 25 26 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182555637 182555637 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:182555637G>A ENST00000367559.3 - 2 558 c.305C>T c.(304-306)gCg>gTg p.A102V RNASEL_ENST00000444138.1_Missense_Mutation_p.A102V|RNASEL_ENST00000539397.1_Missense_Mutation_p.A102V NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 102 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding p.A102V(2) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 CACGCTCCCCGCAATCGCTGC 0.498000 9 36 0 0 1 0 0 CDC20 991 broad.mit.edu 37 1 43826219 43826219 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:43826219C>T ENST00000372462.1 + 6 1006 c.803C>T c.(802-804)tCt>tTt p.S268F CDC20_ENST00000310955.6_Missense_Mutation_p.S268F|CDC20_ENST00000478882.1_3'UTR Q12834 CDC20_HUMAN cell division cycle 20 268 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding p.S268F(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACCAGTCACTCTGCCCGAGTG 0.498000 43 70 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54950106 54950106 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:54950106C>G ENST00000173898.7 + 3 1253 c.1141C>G c.(1141-1143)Cag>Gag p.Q381E TRO_ENST00000375041.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.Q381E|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.Q381E|TRO_ENST00000484031.1_Intron|TRO_ENST00000420798.2_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 381 embryo implantation|homophilic cell adhesion integral to plasma membrane p.Q381E(2) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 CCTTGAGACTCAGGTTGCTGC 0.577000 6 18 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346598 48346598 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:48346598G>C ENST00000319856.4 + 1 127 c.106G>C c.(106-108)Gaa>Caa p.E36Q NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E36Q(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 AAATATCACAGAATTTTTCAT 0.408000 23 69 0 0 1 0 0 EAF2 55840 broad.mit.edu 37 3 121591540 121591540 + Nonsense_Mutation SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:121591540C>A ENST00000273668.2 + 5 712 c.641C>A c.(640-642)tCa>tAa p.S214* EAF2_ENST00000451944.2_Nonsense_Mutation_p.S214* NM_018456.4 NP_060926.2 Q96CJ1 EAF2_HUMAN ELL associated factor 2 214 Necessary for transactivation activity. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding p.S214*(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) AATTGTGTCTCAGGACATCCT 0.393000 3 51 0.004672 0.00470032 1 1 0 CRIPAK 285464 broad.mit.edu 37 4 1389587 1389587 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr4:1389587C>T ENST00000324803.4 + 1 4248 c.1288C>T c.(1288-1290)Cgt>Tgt p.R430C NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 430 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding p.R430C(2) NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTTTTTAATACGTTTTTATGT 0.443000 9 52 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785556 1785556 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:1785556C>T ENST00000539485.1 - 26 3568 c.3335G>A c.(3334-3336)cGc>cAc p.R1112H ATP8B3_ENST00000525591.1_Missense_Mutation_p.R1065H|ATP8B3_ENST00000310127.6_Missense_Mutation_p.R1102H O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1102 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.R1112H(1) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCCGTGTCGCGGCTGATCCA 0.602000 10 15 0 0 1 0 0 HIST1H2BC 8347 broad.mit.edu 37 6 26123793 26123793 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr6:26123793C>G ENST00000314332.5 - 1 345 c.340G>C c.(340-342)Gag>Cag p.E114Q HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.E114Q P62807 H2B1C_HUMAN histone cluster 1, H2bc 114 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.E114Q(1) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16 TTGGTGCCCTCCGACACGGCG 0.582000 21 49 0 0 1 0 0 SPIB 6689 broad.mit.edu 37 19 50926966 50926966 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:50926966G>A ENST00000596074.1 + 4 251 c.229G>A c.(229-231)Gga>Aga p.G77R SPIB_ENST00000439922.2_Silent_p.S57S|SPIB_ENST00000595883.1_Silent_p.S148S|SPIB_ENST00000270632.7_Silent_p.S148S|SPIB_ENST00000597855.1_Missense_Mutation_p.G137R Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 0 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding p.S148S(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) ACAGCGAGTCGGATGAGGCCC 0.672000 4 13 0 0 1 0 0 FAM63B 54629 broad.mit.edu 37 15 59064389 59064389 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:59064389C>T ENST00000559228.1 + 1 877 c.795C>T c.(793-795)ccC>ccT p.P265P FAM63B_ENST00000450403.2_Silent_p.P265P Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 265 p.P265P(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 AGAACGGACCCTGCCCCTTGC 0.527000 14 28 0 0 1 0 0 NUFIP2 57532 broad.mit.edu 37 17 27613864 27613864 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:27613864G>C ENST00000225388.4 - 2 1206 c.1148C>G c.(1147-1149)tCt>tGt p.S383C NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 383 Ser-rich. nucleus|polysomal ribosome protein binding|RNA binding p.S383C(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) AGATGATGAAGATGATGAAGA 0.393000 5 142 0 0 1 0 0 TREML1 340205 broad.mit.edu 37 6 41118012 41118012 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr6:41118012C>G ENST00000426005.2 - 5 651 c.608G>C c.(607-609)aGa>aCa p.R203T TREML1_ENST00000437044.2_Missense_Mutation_p.R92T|TREML1_ENST00000373127.4_Intron NM_178174.2 NP_835468.1 Q86YW5 TRML1_HUMAN triggering receptor expressed on myeloid cells-like 1 203 calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity p.R203T(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) GCCTGAAACTCTGCTGCTCAG 0.572000 9 15 0 0 1 0 0 RNF111 54778 broad.mit.edu 37 15 59323235 59323235 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:59323235C>G ENST00000348370.4 + 2 647 c.214C>G c.(214-216)Caa>Gaa p.Q72E RNF111_ENST00000559209.1_Missense_Mutation_p.Q72E|RNF111_ENST00000434298.1_Missense_Mutation_p.Q72E|RNF111_ENST00000557998.1_Missense_Mutation_p.Q72E|RNF111_ENST00000561186.1_Missense_Mutation_p.Q72E NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 72 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding p.Q72E(2) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) TGATGATTCTCAAAAGCAAGA 0.443000 10 15 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95406084 95406084 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr8:95406084C>G ENST00000336148.5 - 9 1529 c.1405G>C c.(1405-1407)Gaa>Caa p.E469Q NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding p.E469Q(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) GCAAAAAATTCTTGCAGATCA 0.318000 Direct reversal of damage;Homologous recombination 29 57 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214788288 214788288 + Silent SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:214788288C>G ENST00000366955.3 + 3 444 c.276C>G c.(274-276)gtC>gtG p.V92V NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 92 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.V92V(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AACTTCAAGTCAAGGAGTCAC 0.368000 12 41 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502887 20502887 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:20502887C>T ENST00000315693.2 - 1 32 c.31G>A c.(31-33)Gaa>Aaa p.E11K NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E11K(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AAAATAAATTCCGATACCACT 0.373000 8 30 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51096213 51096213 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr7:51096213C>G ENST00000395542.2 - 12 3010 c.2826G>C c.(2824-2826)caG>caC p.Q942H COBL_ENST00000265136.7_Missense_Mutation_p.Q860H O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 860 p.Q860H(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) ACGTTCTTCTCTGAGGCTTGA 0.587000 32 37 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197411420 197411420 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:197411420G>A ENST00000367400.3 + 11 4138 c.4003G>A c.(4003-4005)Gac>Aac p.D1335N RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Missense_Mutation_p.D1223N|CRB1_ENST00000538660.1_Missense_Mutation_p.D799N|CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.D816N|CRB1_ENST00000535699.1_Missense_Mutation_p.D1311N NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1335 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.D1335N(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTGCGAGGTGGACGTAAGCAG 0.483000 115 138 0 0 1 0 0 PSMC3IP 29893 broad.mit.edu 37 17 40729545 40729545 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:40729545C>G ENST00000393795.3 - 2 177 c.69G>C c.(67-69)caG>caC p.Q23H PSMC3IP_ENST00000590760.1_5'UTR|PSMC3IP_ENST00000253789.5_Missense_Mutation_p.Q23H|PSMC3IP_ENST00000587209.1_5'UTR NM_001256015.1|NM_001256016.1|NM_016556.3 NP_001242944.1|NP_001242945.1|NP_057640.1 Q9P2W1 HOP2_HUMAN PSMC3 interacting protein 23 DNA recombination|meiosis nucleus DNA binding p.Q23H(1) endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395) BRCA - Breast invasive adenocarcinoma(366;0.13) AGGGCCGGTTCTGCTCCTGCA 0.662000 16 34 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28602410 28602410 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr18:28602410C>T ENST00000434452.1 - 7 988 c.834G>A c.(832-834)acG>acA p.T278T DSC3_ENST00000360428.4_Silent_p.T278T NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 278 Cadherin 2. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding p.T278T(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) ATTTCAGGCGCGTATGCATTG 0.453000 3 40 0 0 1 0 0 CDT1 81620 broad.mit.edu 37 16 88872241 88872241 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr16:88872241G>C ENST00000301019.4 + 5 1415 c.796G>C c.(796-798)Gat>Cat p.D266H NM_030928.3 NP_112190.2 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 1 266 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding p.D266H(1) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(80;0.0476) CAGGAGGTCAGATTACCAGCT 0.617000 9 15 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144994592 144994592 + Splice_Site SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:144994592C>T ENST00000369359.4 - 4 589 c.552_splice c.e4+1 p.R184_splice PDE4DIP_ENST00000369356.4_Splice_Site_p.R47_splice|PDE4DIP_ENST00000313382.9_Splice_Site_p.R113_splice|PDE4DIP_ENST00000530740.1_Splice_Site_p.R184_splice|PDE4DIP_ENST00000369347.4_Splice_Site_p.R47_splice|PDE4DIP_ENST00000369348.3_Splice_Site_p.R184_splice|PDE4DIP_ENST00000369349.3_Splice_Site_p.R47_splice|PDE4DIP_ENST00000369351.3_Splice_Site_p.R47_splice|PDE4DIP_ENST00000369354.3_Splice_Site_p.R47_splice Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 47 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.R47Q(2)|p.R184Q(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGCACTCACCCGCTTGTAGAT 0.612000 T PDGFRB MPD 6 164 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29664477 29664477 + Silent SNP T T G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:29664477T>G ENST00000358273.4 + 43 6902 c.6519T>G c.(6517-6519)gcT>gcG p.A2173A NF1_ENST00000356175.3_Silent_p.A2152A NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2173 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.A2173A(2) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCAAGTCAGCTGCTGTCATTG 0.453000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 13 54 0 0 1 0 0 ZNF836 162962 broad.mit.edu 37 19 52658555 52658555 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:52658555G>A ENST00000322146.8 - 5 2902 c.2381C>T c.(2380-2382)gCa>gTa p.A794V CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.A794V NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 794 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A794V(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CCGATGACGTGCTAGTGTTGA 0.423000 38 65 0 0 1 0 0 CES5A 221223 broad.mit.edu 37 16 55905608 55905608 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr16:55905608C>T ENST00000521992.1 - 4 578 c.433G>A c.(433-435)Gga>Aga p.G145R CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_Missense_Mutation_p.G10R|CES5A_ENST00000520435.1_Intron|CES5A_ENST00000290567.9_Missense_Mutation_p.G116R|CES5A_ENST00000319165.9_Missense_Mutation_p.G116R NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 116 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.G116R(1)|p.G145R(1) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TCTGACACTCCGAATTTCGGG 0.537000 12 25 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58599890 58599890 + Silent SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:58599890C>A ENST00000267485.7 - 3 1733 c.1539G>T c.(1537-1539)ctG>ctT p.L513L C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 513 integral to membrane binding p.L513L(1) breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 ATCTTCTTGACAGCTGAGTAA 0.498000 22 55 1.10513e-12 1.19903e-12 1 1 0 NRK 203447 broad.mit.edu 37 X 105167115 105167115 + Silent SNP A A T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:105167115A>T ENST00000428173.2 + 18 2922 c.2619A>T c.(2617-2619)ccA>ccT p.P873P NRK_ENST00000243300.9_Silent_p.P872P Q7Z2Y5 NRK_HUMAN Nik related kinase 872 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.P873P(1) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 CACAGGTTCCAGATGGATTTA 0.363000 HNSCC(51;0.14) 44 83 0 0 1 0 0 MIR520G 574484 broad.mit.edu 37 19 54225506 54225506 + RNA SNP G G T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:54225506G>T ENST00000385064.1 + 0 87 NR_030206.1 GTTACCGTTTGGGAAAAGCAG 0.398000 13 27 9.31168e-06 9.78316e-06 1 1 0 SBF2 81846 broad.mit.edu 37 11 9861153 9861153 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:9861153C>G ENST00000256190.8 - 26 3484 c.3347G>C c.(3346-3348)aGa>aCa p.R1116T RP11-1H15.2_ENST00000533659.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1116 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding p.R1116T(1) breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CTGATAGTCTCTGAAACAAGC 0.463000 4 100 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145161555 145161555 + Silent SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:145161555G>C ENST00000558170.2 - 6 1919 c.735C>G c.(733-735)ctC>ctG p.L245L ZEB2_ENST00000409487.3_Silent_p.L245L|ZEB2_ENST00000539609.3_Silent_p.L221L|ZEB2_ENST00000303660.4_Silent_p.L245L NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 245 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding p.L245L(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TGTAGCTACAGAGAGGGCAGG 0.542000 30 62 0 0 1 0 0 CCDC83 220047 broad.mit.edu 37 11 85626533 85626533 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:85626533C>T ENST00000280245.4 + 10 1471 c.959C>T c.(958-960)aCa>aTa p.T320I CCDC83_ENST00000342404.3_Missense_Mutation_p.T289I|CCDC83_ENST00000376067.1_Missense_Mutation_p.T190I NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 289 p.T320I(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TTGCCAGAAACACATATAGGT 0.353000 14 42 0 0 1 0 0 OR2F2 135948 broad.mit.edu 37 7 143633081 143633081 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr7:143633081C>T ENST00000408955.2 + 1 823 c.756C>T c.(754-756)taC>taT p.Y252Y NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y252Y(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) CCCTGTGCTACGGCACAACGA 0.512000 22 42 0 0 1 0 0 SLC17A9 63910 broad.mit.edu 37 20 61596969 61596969 + Missense_Mutation SNP G G T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr20:61596969G>T ENST00000370349.3 + 11 1139 c.935G>T c.(934-936)gGc>gTc p.G312V SLC17A9_ENST00000370351.4_Missense_Mutation_p.G318V|SLC17A9_ENST00000488738.1_3'UTR Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 318 exocytosis|transmembrane transport integral to membrane transporter activity p.G318V(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 CAGGGCATGGGCCTTGGCCTC 0.662000 62 163 2.32099e-22 2.56856e-22 1 1 0 CD99L2 83692 broad.mit.edu 37 X 149944650 149944650 + Nonsense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:149944650G>A ENST00000370377.3 - 9 769 c.652C>T c.(652-654)Cag>Tag p.Q218* CD99L2_ENST00000355149.3_Nonsense_Mutation_p.Q146*|CD99L2_ENST00000466436.1_Nonsense_Mutation_p.Q169*|CD99L2_ENST00000437787.2_Nonsense_Mutation_p.Q145*|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 218 cell adhesion cell junction|integral to membrane p.Q218*(1) endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CACTTACGCTGAATGCTGAAG 0.612000 21 43 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88213467 88213467 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr10:88213467C>G ENST00000298767.5 - 13 3251 c.2779G>C c.(2779-2781)Gag>Cag p.E927Q WAPAL_ENST00000372075.1_Missense_Mutation_p.E194Q|WAPAL_ENST00000263070.7_Missense_Mutation_p.E194Q NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 927 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding p.E927Q(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 ATGCAGTCCTCCACTGCTTTG 0.413000 19 19 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13126722 13126722 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr9:13126722C>G ENST00000319217.7 - 33 4761 c.4514G>C c.(4513-4515)gGa>gCa p.G1505A MPDZ_ENST00000541718.1_Missense_Mutation_p.G1505A|MPDZ_ENST00000538841.1_Missense_Mutation_p.G364A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1505A|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1505A|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1519A|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1472A|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1472A|MPDZ_ENST00000541093.1_5'UTR NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1505 PDZ 9. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding p.G1505A(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TATGATGACTCCACTGAGTGT 0.408000 5 14 0 0 1 0 0 SUOX 6821 broad.mit.edu 37 12 56398128 56398128 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:56398128G>C ENST00000394109.3 + 3 1679 c.955G>C c.(955-957)Gag>Cag p.E319Q SUOX_ENST00000548274.1_Missense_Mutation_p.E319Q|SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000394115.2_Missense_Mutation_p.E319Q|SUOX_ENST00000266971.3_Missense_Mutation_p.E319Q|SUOX_ENST00000356124.4_Missense_Mutation_p.E319Q P51687 SUOX_HUMAN sulfite oxidase 319 Molybdenum-pterin domain (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity p.E319Q(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) CGTCTGCTTTGAGGGACTGGA 0.602000 17 22 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39159580 39159580 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:39159580G>A ENST00000301819.6 + 7 914 c.737G>A c.(736-738)aGc>aAc p.S246N TTC21A_ENST00000431162.2_Missense_Mutation_p.S246N|TTC21A_ENST00000440121.1_Missense_Mutation_p.S205N NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 246 binding p.S246N(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AAAGATGAGAGCAATATTGAT 0.428000 32 22 0 0 1 0 0 TAF3 83860 broad.mit.edu 37 10 7860740 7860740 + Missense_Mutation SNP G G T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr10:7860740G>T ENST00000344293.5 + 1 274 c.68G>T c.(67-69)tGg>tTg p.W23L NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 23 WDS -> TRP (in Ref. 4; CAB56032). maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding p.W23L(1) NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 GCGCTGGGCTGGGACTCGGTG 0.667000 7 2 8.12818e-05 8.48603e-05 1 1 0 HSPG2 3339 broad.mit.edu 37 1 22166366 22166366 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:22166366C>T ENST00000374695.3 - 72 9737 c.9658G>A c.(9658-9660)Gag>Aag p.E3220K NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3220 Ig-like C2-type 18. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding p.E3220K(1) 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) ACAGTCAGCTCAGCTTCTTCA 0.642000 28 61 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196199040 196199040 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:196199040C>G ENST00000318037.3 - 6 1960 c.1366G>C c.(1366-1368)Gag>Cag p.E456Q NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 456 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding p.E456Q(1) NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TTATCCACCTCCTTCTGAAGT 0.423000 65 50 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177133601 177133601 + Missense_Mutation SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:177133601C>A ENST00000367654.2 - 1 225 c.212G>T c.(211-213)cGc>cTc p.R71L ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.R71L|ASTN1_ENST00000367657.3_Missense_Mutation_p.R71L|ASTN1_ENST00000361833.2_Missense_Mutation_p.R71L O14525 ASTN1_HUMAN astrotactin 1 71 cell migration|neuron cell-cell adhesion integral to membrane p.R71L(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GAAGTCGTTGCGCACCGAGAA 0.647000 13 18 0.00136819 0.00139338 1 1 0 NPM2 10361 broad.mit.edu 37 8 21890671 21890671 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr8:21890671C>T ENST00000397940.1 + 5 1316 c.301C>T c.(301-303)Cca>Tca p.P101S NPM2_ENST00000521157.1_Missense_Mutation_p.P101S|NPM2_ENST00000289820.6_Missense_Mutation_p.P101S|NPM2_ENST00000381530.5_Missense_Mutation_p.P101S|NPM2_ENST00000518119.1_Missense_Mutation_p.P101S|NPM2_ENST00000520180.1_3'UTR Q86SE8 NPM2_HUMAN nucleophosmin/nucleoplasmin 2 101 chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization cytoplasmic chromatin|nuclear chromatin histone binding|nucleic acid binding p.P101S(1) large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) GCTTTCTCCCCCAGTTACTTT 0.597000 8 44 0 0 1 0 0 HDAC6 10013 broad.mit.edu 37 X 48681322 48681322 + Splice_Site SNP A A G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:48681322A>G ENST00000334136.5 + 25 2691 c.2512_splice c.e25-1 p.K838_splice HDAC6_ENST00000376619.2_Splice_Site_p.K838_splice|HDAC6_ENST00000444343.2_Splice_Site_p.K852_splice Q9UBN7 HDAC6_HUMAN histone deacetylase 6 838 aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding p.K838R(1) breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) CTGGTTCCAGAGGTAGAAGAC 0.572000 3 24 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197036345 197036345 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:197036345C>T ENST00000367412.1 - 1 52 c.9G>A c.(7-9)ttG>ttA p.L3L NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 3 blood coagulation extracellular region p.L3L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TCAGGTTTTTCAACCTCATCT 0.299000 9 49 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146351273 146351273 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr6:146351273C>G ENST00000392299.2 + 2 1090 c.620C>G c.(619-621)tCt>tGt p.S207C GRM1_ENST00000492807.2_Missense_Mutation_p.S207C|GRM1_ENST00000355289.4_Missense_Mutation_p.S207C|GRM1_ENST00000507907.1_Missense_Mutation_p.S207C|GRM1_ENST00000361719.2_Missense_Mutation_p.S207C|GRM1_ENST00000282753.1_Missense_Mutation_p.S207C Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 207 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.S207C(2) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GTTGTCCCTTCTGACACTTTG 0.478000 20 60 0 0 1 0 0 SETD3 84193 broad.mit.edu 37 14 99927677 99927677 + Splice_Site SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:99927677C>A ENST00000331768.5 - 4 356 c.196_splice c.e4-1 p.G66_splice SETD3_ENST00000436070.2_Splice_Site_p.G66_splice|SETD3_ENST00000453938.1_Intron|SETD3_ENST00000329331.3_Splice_Site_p.G66_splice NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 66 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity p.G66V(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) AACGGACAGACCTATATTAAT 0.373000 12 43 0.00136819 0.00139338 1 1 0 RGS16 6004 broad.mit.edu 37 1 182571203 182571203 + Nonsense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:182571203C>T ENST00000367558.5 - 4 433 c.285G>A c.(283-285)tgG>tgA p.W95* NM_002928.3 NP_002919.3 O15492 RGS16_HUMAN regulator of G-protein signaling 16 95 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity p.W95*(1) NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1) 11 CACAGGCCAGCCAGAACTCCA 0.537000 OREG0014036 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 75 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105859054 105859054 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:105859054C>T ENST00000258456.1 + 1 855 c.739C>T c.(739-741)Cgg>Tgg p.R247W NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 247 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding p.R247W(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 GGCGGGCCTGCGGCGCCTGCA 0.642000 41 76 0 0 1 0 0 PTK6 5753 broad.mit.edu 37 20 62168655 62168655 + Missense_Mutation SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr20:62168655C>A ENST00000217185.2 - 1 40 c.13G>T c.(13-15)Gac>Tac p.D5Y PTK6_ENST00000542869.1_5'UTR NM_005975.3 NP_005966.1 Q13882 PTK6_HUMAN protein tyrosine kinase 6 5 cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity p.D5Y(1) endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 15 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) TGAGCCTGGTCCCGGGACACC 0.711000 9 4 0.000442599 0.000459197 1 1 0 AKNAD1 254268 broad.mit.edu 37 1 109358811 109358811 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:109358811C>G ENST00000370001.3 - 16 2761 c.2493G>C c.(2491-2493)agG>agC p.R831S AKNAD1_ENST00000477908.1_5'UTR NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 831 p.R831S(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TCAGTCGATTCCTCCACCTCT 0.373000 30 45 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216038 20216038 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:20216038G>A ENST00000331723.1 + 1 452 c.452G>A c.(451-453)tGt>tAt p.C151Y NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C151Y(1) NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCCTGCTGGTGTGGGGGTTTT 0.498000 14 48 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763767 92763767 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr7:92763767G>A ENST00000318238.4 - 5 2734 c.1518C>T c.(1516-1518)agC>agT p.S506S SAMD9L_ENST00000437805.1_Silent_p.S506S|SAMD9L_ENST00000411955.1_Silent_p.S506S NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 506 p.S506S(1) central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TATATGTCTCGCTTTTCAGGT 0.378000 38 70 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31279101 31279101 + Missense_Mutation SNP G G T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:31279101G>T ENST00000357033.4 - 63 9463 c.9257C>A c.(9256-9258)cCc>cAc p.P3086H DMD_ENST00000474231.1_Missense_Mutation_p.P626H|DMD_ENST00000343523.2_Missense_Mutation_p.P626H|DMD_ENST00000378723.3_Missense_Mutation_p.P18H|DMD_ENST00000361471.4_Missense_Mutation_p.P18H|DMD_ENST00000378680.2_Missense_Mutation_p.P18H|DMD_ENST00000378702.4_Missense_Mutation_p.P18H|DMD_ENST00000378677.2_Missense_Mutation_p.P3082H|DMD_ENST00000541735.1_Missense_Mutation_p.P626H|DMD_ENST00000378707.3_Missense_Mutation_p.P626H|DMD_ENST00000359836.1_Missense_Mutation_p.P626H NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3086 Interaction with SYNM (By similarity).|WW. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.P3086H(1)|p.P18H(1)|p.P3082H(1)|p.P1745H(1)|p.P3081H(1)|p.P626H(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGTCATTTTGGGATGGTCCCA 0.393000 17 28 1.00905e-13 1.10928e-13 1 1 0 XRCC5 7520 broad.mit.edu 37 2 217012854 217012854 + Nonsense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:217012854C>T ENST00000392133.3 + 16 1986 c.1525C>T c.(1525-1527)Cag>Tag p.Q509* XRCC5_ENST00000392132.2_Nonsense_Mutation_p.Q509* P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 509 Pro-rich. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding p.Q509*(1) endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) ACCCCCAATTCAGCAGCATAT 0.433000 Non-homologous end-joining 43 77 0 0 1 0 0 SLC9A6 10479 broad.mit.edu 37 X 135115594 135115594 + Missense_Mutation SNP A A G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:135115594A>G ENST00000370695.4 + 14 1704 c.1669A>G c.(1669-1671)Aga>Gga p.R557G SLC9A6_ENST00000370698.3_Missense_Mutation_p.R525G|SLC9A6_ENST00000370701.1_Missense_Mutation_p.R505G NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 525 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity p.R525G(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) AAATGAAAGGAGAACTACCAA 0.353000 45 83 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486375 36486375 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:36486375C>T ENST00000342292.4 - 11 3097 c.3077G>A c.(3076-3078)cGa>cAa p.R1026Q NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1026 integral to membrane|plasma membrane G-protein coupled receptor activity p.R1026Q(1) breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GAGCCTGGCTCGAGCTGGGGC 0.612000 14 51 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 170003513 170003513 + Splice_Site SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:170003513C>G ENST00000367765.1 - 7 2123 c.622_splice c.e7+1 p.V208_splice KIFAP3_ENST00000367767.1_Splice_Site_p.V204_splice|KIFAP3_ENST00000538366.1_Splice_Site_p.V170_splice|KIFAP3_ENST00000361580.2_Splice_Site_p.V248_splice NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 248 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding p.V248L(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AAAAGGATATCAGCTTTCTTC 0.328000 10 38 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29628261 29628261 + Missense_Mutation SNP T T C rs111331725 by1000genomes TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr20:29628261T>C ENST00000278882.3 + 6 643 c.263T>C c.(262-264)tTt>tCt p.F88S FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S|FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATAGCTGCTTTATTAGATGC 0.363000 5 41 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967475 41967475 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:41967475G>A ENST00000298919.7 + 10 2502 c.2114G>A c.(2113-2115)cGa>cAa p.R705Q PDZRN4_ENST00000402685.2_Missense_Mutation_p.R965Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R707Q Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 965 ubiquitin-protein ligase activity|zinc ion binding p.R707Q(2)|p.R965Q(1) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TTCATGATGCGAAGCAGGTTA 0.507000 5 16 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143958264 143958264 + Silent SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr8:143958264C>G ENST00000292427.4 - 4 665 c.633G>C c.(631-633)ctG>ctC p.L211L CYP11B1_ENST00000517471.1_Silent_p.L211L|CYP11B1_ENST00000377675.3_Silent_p.L282L NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 211 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity p.L211L(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TGTGGCCAACCAGGCCCAGCC 0.627000 Familial Hyperaldosteronism type I 8 13 0 0 1 0 0 C16orf93 90835 broad.mit.edu 37 16 30770954 30770954 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr16:30770954G>C ENST00000541260.1 - 5 891 c.561C>G c.(559-561)ttC>ttG p.F187L C16orf93_ENST00000543610.1_Intron|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR A1A4V9 CP093_HUMAN chromosome 16 open reading frame 93 0 breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6) 11 AAAGTTTCCAGAATGTTCCAG 0.537000 8 29 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67699360 67699360 + Missense_Mutation SNP T T C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:67699360T>C ENST00000545606.1 + 10 2349 c.1912T>C c.(1912-1914)Tca>Cca p.S638P NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 638 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding p.S638P(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GATTGCTGGGTCACCTTTGAA 0.413000 35 89 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25958906 25958906 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:25958906G>A ENST00000356865.6 - 10 2370 c.2259C>T c.(2257-2259)atC>atT p.I753I NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 753 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.I753I(1) NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCGGGTGCCGGATCACCACTG 0.602000 10 36 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29668239 29668239 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr22:29668239G>A ENST00000397938.2 + 2 367 c.48G>A c.(46-48)caG>caA p.Q16Q EWSR1_ENST00000332035.6_Silent_p.Q16Q|EWSR1_ENST00000414183.2_Silent_p.Q16Q|EWSR1_ENST00000332050.6_Silent_p.Q16Q|EWSR1_ENST00000406548.1_Silent_p.Q16Q|EWSR1_ENST00000331029.7_Silent_p.Q16Q|EWSR1_ENST00000333395.6_Silent_p.Q16Q NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 16 31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding p.Q16Q(2) EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAGCGCAGCAGGGGTAAGTCA 0.368000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 17 29 0 0 1 0 0 FTL 2512 broad.mit.edu 37 19 49469609 49469609 + Silent SNP G G T rs11553263 TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:49469609G>T ENST00000331825.6 + 3 528 c.321G>T c.(319-321)ctG>ctT p.L107L NM_000146.3 NP_000137.2 P02792 FRIL_HUMAN ferritin, light polypeptide 107 Ferritin-like diiron. cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity p.L107L(1) cervix(1)|kidney(3)|lung(5) 9 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) AGAAAAAGCTGAACCAGGCCC 0.547000 17 28 3.52763e-06 3.75376e-06 1 1 0 CX3CR1 1524 broad.mit.edu 37 3 39307728 39307728 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:39307728C>T ENST00000541347.1 - 2 512 c.273G>A c.(271-273)ttG>ttA p.L91L CX3CR1_ENST00000542107.1_Silent_p.L91L|CX3CR1_ENST00000358309.3_Silent_p.L123L|CX3CR1_ENST00000399220.2_Silent_p.L91L NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 91 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity p.L91L(1)|p.L123L(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) TTTCATTTATCAAATAGTGAG 0.463000 17 27 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120298837 120298837 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:120298837C>T ENST00000397843.2 + 8 632 c.466C>T c.(466-468)Ctt>Ttt p.L156F ARHGEF12_ENST00000532993.1_Missense_Mutation_p.L53F|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.L137F NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 156 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.L156F(1) NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CCAGATTCCACTTGCCGACTC 0.527000 T MLL AML 54 103 0 0 1 0 0 BAX 581 broad.mit.edu 37 19 49464213 49464213 + Silent SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:49464213C>G ENST00000293288.8 + 5 516 c.516C>G c.(514-516)ctC>ctG p.L172L BAX_ENST00000345358.7_Intron|BAX_ENST00000354470.3_Intron|BAX_ENST00000539787.1_Intron|BAX_ENST00000391871.3_Intron|BAX_ENST00000415969.2_Intron NM_004324.3 NP_004315.1 Q07812 BAX_HUMAN BCL2-associated X protein 0 activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity p.L172L(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4) 17 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) accgcgccctcaccaccgccc 0.672000 11 14 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38938482 38938482 + Missense_Mutation SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:38938482C>A ENST00000450244.1 - 14 2455 c.2257G>T c.(2257-2259)Gat>Tat p.D753Y SCN11A_ENST00000456224.3_Missense_Mutation_p.D753Y|SCN11A_ENST00000302328.3_Missense_Mutation_p.D753Y|SCN11A_ENST00000444237.2_Missense_Mutation_p.D753Y Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 753 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.D753Y(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGCCAGAAATCCCCCATGTGC 0.488000 12 11 2.27111e-07 2.43229e-07 1 1 0 ZXDA 7789 broad.mit.edu 37 X 57935303 57935303 + Missense_Mutation SNP A A T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:57935303A>T ENST00000358697.4 - 1 1764 c.1552T>A c.(1552-1554)Tgt>Agt p.C518S NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 518 Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.C518S(1) breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 AACCTGGCACAGCAGCCTGCC 0.542000 19 24 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6580191 6580191 + Silent SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr4:6580191G>C ENST00000285599.3 + 3 393 c.357G>C c.(355-357)gtG>gtC p.V119V MAN2B2_ENST00000504248.1_Silent_p.V119V NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 119 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding p.V119V(1) breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 ACGAGGCTGTGACGCACCTTG 0.592000 4 10 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73069127 73069127 + RNA SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:73069127G>C ENST00000429829.1 - 0 3461 NR_001564.2 AATTGGGACTGAGCATTTTAA 0.453000 9 31 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27182355 27182355 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:27182355G>A ENST00000335625.5 + 8 1492 c.604G>A c.(604-606)Gtt>Att p.V202I GABRA5_ENST00000355395.5_Missense_Mutation_p.V202I|GABRA5_ENST00000400081.3_Missense_Mutation_p.V202I|GABRB3_ENST00000541819.2_Intron NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 202 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.V202I(3) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCTGAAGTCGTTTACGTCTG 0.512000 15 34 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7581355 7581355 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr6:7581355G>A ENST00000379802.3 + 23 5273 c.4932G>A c.(4930-4932)ctG>ctA p.L1644L DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1644 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton p.L1644L(1) biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ATGGCCACCTGAGGGAAAAGC 0.567000 40 19 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109784503 109784503 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr4:109784503C>T ENST00000399132.1 - 21 1654 c.1124G>A c.(1123-1125)cGa>cAa p.R375Q COL25A1_ENST00000399126.1_Missense_Mutation_p.R375Q|COL25A1_ENST00000399127.1_Missense_Mutation_p.R371Q NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 375 Collagen-like 5. collagen|extracellular space beta-amyloid binding|heparin binding p.R375Q(3) NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) AGGTTCCCCTCGCTCACCTCT 0.493000 8 16 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186023068 186023068 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:186023068C>T ENST00000271588.4 + 44 7041 c.6812C>T c.(6811-6813)gCg>gTg p.A2271V HMCN1_ENST00000367492.2_Missense_Mutation_p.A2271V NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2271 Ig-like C2-type 20. response to stimulus|visual perception basement membrane calcium ion binding p.A2271V(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TCATGTGTGGCGTCGAATGTT 0.403000 14 67 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51096593 51096593 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr7:51096593C>T ENST00000395542.2 - 12 2630 c.2446G>A c.(2446-2448)Gac>Aac p.D816N COBL_ENST00000265136.7_Missense_Mutation_p.D734N O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 734 p.D734N(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CCCAGCTCGTCAATCTTAATG 0.507000 14 30 0 0 1 0 0 ZNF180 7733 broad.mit.edu 37 19 44980651 44980651 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:44980651G>C ENST00000221327.4 - 5 2328 c.2047C>G c.(2047-2049)Cat>Gat p.H683D ZNF180_ENST00000391956.4_Missense_Mutation_p.H658D|ZNF180_ENST00000592529.1_Missense_Mutation_p.H656D NM_013256.3 NP_037388.2 Q9UJW8 ZN180_HUMAN zinc finger protein 180 683 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H683D(1) NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) TCTTCAGTATGAGTTGCCTGA 0.313000 26 67 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231135347 231135347 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:231135347G>A ENST00000392045.3 + 15 1605 c.1491G>A c.(1489-1491)agG>agA p.R497R SP140_ENST00000343805.6_Silent_p.R437R|SP140_ENST00000350136.5_Silent_p.R366R|SP140_ENST00000486687.2_Silent_p.R421R|SP140_ENST00000417495.3_Silent_p.R383R|SP140_ENST00000420434.3_Silent_p.R470R NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 497 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R497R(1) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AACCCAAGAGGAAAAGAAGTA 0.284000 5 26 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170216672 170216672 + Splice_Site SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:170216672C>A ENST00000231706.4 - 4 858 c.541_splice c.e4-1 p.G181_splice CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 181 integral to membrane amino acid transmembrane transporter activity p.G181G(3) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CTTCACCTTTCCCTAGAGAGG 0.488000 13 12 9.31168e-06 9.78316e-06 1 1 0 ZNF648 127665 broad.mit.edu 37 1 182026921 182026921 + Silent SNP G G T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:182026921G>T ENST00000339948.3 - 2 432 c.225C>A c.(223-225)ggC>ggA p.G75G NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G75G(1) breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 CTTCCTCTTTGCCCAGTGGAT 0.567000 19 44 6.49762e-13 7.09608e-13 1 1 0 DYSF 8291 broad.mit.edu 37 2 71901354 71901354 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:71901354G>A ENST00000258104.3 + 51 5972 c.5695G>A c.(5695-5697)Gag>Aag p.E1899K DYSF_ENST00000409762.1_Missense_Mutation_p.E1916K|DYSF_ENST00000413539.2_Missense_Mutation_p.E1930K|DYSF_ENST00000409582.3_Missense_Mutation_p.E1937K|DYSF_ENST00000410041.1_Missense_Mutation_p.E1917K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1921K|DYSF_ENST00000394120.2_Missense_Mutation_p.E1900K|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.E1931K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1907K|DYSF_ENST00000429174.2_Missense_Mutation_p.E1920K|DYSF_ENST00000410020.3_Missense_Mutation_p.E1938K NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1899 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.E1899K(1)|p.E1938K(1) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GGACAAGACTGAGAGCAAAAT 0.502000 16 24 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 41961679 41961679 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:41961679C>G ENST00000219905.7 + 2 768 c.587C>G c.(586-588)tCt>tGt p.S196C MGA_ENST00000566586.1_Missense_Mutation_p.S196C|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.S196C|MGA_ENST00000545763.1_Missense_Mutation_p.S196C|MGA_ENST00000570161.1_Missense_Mutation_p.S196C NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 196 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity p.S196C(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) ATCTTGCACTCTATGCATCGT 0.448000 51 95 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151089832 151089832 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr6:151089832C>T ENST00000367328.1 + 4 782 c.470C>T c.(469-471)tCa>tTa p.S157L PLEKHG1_ENST00000358517.2_Missense_Mutation_p.S157L NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 157 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.S157L(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GAAGAAAGATCAGCCCTTTTT 0.393000 3 20 0 0 1 0 0 KIAA0391 9692 broad.mit.edu 37 14 35739633 35739633 + Missense_Mutation SNP A A G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:35739633A>G ENST00000557565.1 + 7 1832 c.1451A>G c.(1450-1452)tAt>tGt p.Y484C KIAA0391_ENST00000534898.4_Missense_Mutation_p.Y484C|KIAA0391_ENST00000321130.10_Missense_Mutation_p.Y468C|KIAA0391_ENST00000604948.1_Missense_Mutation_p.Y389C|KIAA0391_ENST00000605870.1_Missense_Mutation_p.Y112C|KIAA0391_ENST00000603544.1_Missense_Mutation_p.Y468C|KIAA0391_ENST00000250377.7_Missense_Mutation_p.Y389C O15091 MRRP3_HUMAN KIAA0391 484 tRNA processing mitochondrion p.Y484C(1) central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) TTCCTTCTGTATGCCACACTG 0.512000 19 46 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80101245 80101245 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:80101245G>A ENST00000466387.1 + 10 1353 c.629G>A c.(628-630)cGa>cAa p.R210Q CTNNA2_ENST00000361291.4_Missense_Mutation_p.R244Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R210Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R210Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R210Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R210Q P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 210 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.R210Q(2)|p.R210L(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GCAGCCGCCCGAGGGGCTCTG 0.512000 13 38 0 0 1 0 0 DUSP6 1848 broad.mit.edu 37 12 89743067 89743067 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:89743067C>G ENST00000279488.7 - 3 2341 c.1110G>C c.(1108-1110)caG>caC p.Q370H DUSP6_ENST00000308385.6_Missense_Mutation_p.Q224H|DUSP6_ENST00000547291.1_Missense_Mutation_p.Q245H NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 370 Tyrosine-protein phosphatase. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.Q370H(1) large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 GGTATACATTCTGGTTGGAAG 0.547000 30 56 0 0 1 0 0 LMOD1 25802 broad.mit.edu 37 1 201868453 201868453 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:201868453C>G ENST00000367288.4 - 2 1934 c.1688G>C c.(1687-1689)gGa>gCa p.G563A RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 563 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding p.G563A(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GACTTTGTCTCCCATCTTCCT 0.567000 6 5 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558864 129558864 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:129558864G>C ENST00000422113.2 - 9 3182 c.2856C>G c.(2854-2856)ttC>ttG p.F952L TMEM132D_ENST00000389441.4_Missense_Mutation_p.F490L NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 952 integral to membrane p.F952L(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CCTGCTCCTCGAAGGGAACCT 0.463000 32 59 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165584560 165584560 + Nonsense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:165584560G>A ENST00000375458.2 - 4 801 c.580C>T c.(580-582)Caa>Taa p.Q194* COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Nonsense_Mutation_p.Q247*|COBLL1_ENST00000409184.3_Nonsense_Mutation_p.Q232*|COBLL1_ENST00000392717.2_Nonsense_Mutation_p.Q232*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.Q194* NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 232 p.Q194*(1)|p.Q194E(1) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 TCCTGCGATTGATAATCTTTC 0.393000 34 50 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27134880 27134880 + Splice_Site SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr7:27134880C>A ENST00000343060.4 - 1 713 c.652_splice c.e1+1 p.G218_splice HOXA1_ENST00000355633.5_3'UTR NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 218 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G218W(1) endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CAGGACTGACCTGTTTTGGGA 0.463000 9 18 0.000673444 0.000694358 1 1 0 HDAC7 51564 broad.mit.edu 37 12 48179570 48179570 + Missense_Mutation SNP A A G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:48179570A>G ENST00000080059.7 - 23 2670 c.2671T>C c.(2671-2673)Tct>Cct p.S891P HDAC7_ENST00000380610.4_Missense_Mutation_p.S908P|HDAC7_ENST00000354334.3_Missense_Mutation_p.S854P|HDAC7_ENST00000427332.2_Missense_Mutation_p.S852P|AC004466.1_ENST00000599515.1_3'UTR|HDAC7_ENST00000552960.1_Missense_Mutation_p.S874P NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 852 Interaction with SIN3A (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding p.S852P(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) CAGGCCTCAGAGGCGTCACAG 0.602000 3 4 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42040834 42040834 + Splice_Site SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:42040834G>A ENST00000219905.7 + 16 5393 c.e16-1 MGA_ENST00000566586.1_Splice_Site|MGA_ENST00000389936.4_Splice_Site|MGA_ENST00000545763.1_Splice_Site|MGA_ENST00000570161.1_Splice_Site NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity p.?(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CTGTTTTTCAGAAAATGCTGC 0.408000 4 9 0 0 1 0 0 CLHC1 130162 broad.mit.edu 37 2 55439826 55439826 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:55439826G>C ENST00000401408.1 - 5 827 c.482C>G c.(481-483)cCt>cGt p.P161R CLHC1_ENST00000406076.1_Missense_Mutation_p.P39R|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.P161R NM_152385.2 NP_689598.2 clathrin heavy chain linker domain containing 1 p.P161R(2) AGGTTTTGAAGGATCTTTGGA 0.313000 12 31 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154543728 154543728 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:154543728C>T ENST00000368476.3 + 5 693 c.429C>T c.(427-429)atC>atT p.I143I NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 143 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.I143I(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) ATGGCAGCATCTTCTGGCTGC 0.537000 31 119 0 0 1 0 0 IFIH1 64135 broad.mit.edu 37 2 163134108 163134108 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr2:163134108C>G ENST00000263642.2 - 10 2256 c.1861G>C c.(1861-1863)Gat>Cat p.D621H NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 621 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding p.D621H(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 GTATACGCATCTATCATTCGA 0.373000 24 44 0 0 1 0 0 HAGHL 84264 broad.mit.edu 37 16 777579 777579 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr16:777579G>A ENST00000549114.1 + 2 373 c.70G>A c.(70-72)Gag>Aag p.E24K HAGHL_ENST00000389703.3_Missense_Mutation_p.E24K|HAGHL_ENST00000561546.1_Missense_Mutation_p.E24K|HAGHL_ENST00000564537.1_Missense_Mutation_p.E24K|HAGHL_ENST00000564545.1_Missense_Mutation_p.E24K|HAGHL_ENST00000341413.4_Missense_Mutation_p.E24K Q6PII5 HAGHL_HUMAN hydroxyacylglutathione hydrolase-like 24 hydrolase activity|metal ion binding p.E24K(1) lung(3) 3 Hepatocellular(780;0.00335) GCTCACGCGCGAGGCGGTGGC 0.701000 4 15 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7188187 7188187 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:7188187C>G ENST00000542285.1 - 11 1760 c.1611G>C c.(1609-1611)ttG>ttC p.L537F P00736 C1R_HUMAN complement component 1, r subcomponent 589 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity p.L552F(1) endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CATAGCCCATCAAGCCCAGGT 0.567000 8 23 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11008388 11008388 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:11008388C>T ENST00000377004.4 - 12 1803 c.1804G>A c.(1804-1806)Gag>Aag p.E602K C1orf127_ENST00000377008.4_Missense_Mutation_p.E435K NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 453 p.E435K(1)|p.E602K(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) ACCAGCTCCTCTGCAGCCAGT 0.672000 17 35 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303180 151303180 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:151303180C>T ENST00000370323.4 - 4 1229 c.913G>A c.(913-915)Gaa>Aaa p.E305K MAGEA10_ENST00000244096.3_Missense_Mutation_p.E305K|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 305 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTAATTTCAGCATGAGCC 0.502000 7 179 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19940970 19940970 + Missense_Mutation SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:19940970C>A ENST00000295824.9 - 7 1617 c.1456G>T c.(1456-1458)Gat>Tat p.D486Y EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.D356Y NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 486 signal transduction proteinaceous extracellular matrix calcium ion binding p.D484Y(1)|p.D486Y(1) breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 TCTTTGAAATCATCTGCTCTT 0.294000 21 12 1.22574e-08 1.32125e-08 1 1 0 NKX2-1 7080 broad.mit.edu 37 14 36988447 36988447 + Missense_Mutation SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:36988447G>A ENST00000518149.1 - 2 721 c.116C>T c.(115-117)gCg>gTg p.A39V NKX2-1_ENST00000354822.5_Missense_Mutation_p.A69V|NKX2-1_ENST00000498187.2_Missense_Mutation_p.A39V|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Missense_Mutation_p.A39V P43699 NKX21_HUMAN NK2 homeobox 1 39 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding p.A39V(1) large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) CCTGTACGCCGCCAGCGGAGC 0.682000 A NSCLC 9 26 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7759700 7759700 + Silent SNP C C A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr10:7759700C>A ENST00000358415.4 + 6 745 c.579C>A c.(577-579)tcC>tcA p.S193S ITIH2_ENST00000379587.4_Silent_p.S182S|ITIH2_ENST00000480387.1_3'UTR NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 193 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.S193S(1) NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 AGCTGGGCTCCTATGAGCACA 0.498000 3 51 0.004672 0.00470032 1 1 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 3 31 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285020 152285020 + Missense_Mutation SNP T T C rs138055273 byFrequency TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:152285020T>C ENST00000368799.1 - 3 2377 c.2342A>G c.(2341-2343)gAc>gGc p.D781G FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 781 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.D781G(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTGACCGGTCACGTGCGGA 0.562000 Ichthyosis 101 364 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3381997 3381997 + Silent SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:3381997C>G ENST00000589123.1 + 2 411 c.291C>G c.(289-291)ctC>ctG p.L97L NFIC_ENST00000346156.5_Silent_p.L97L|NFIC_ENST00000395111.3_Silent_p.L97L|NFIC_ENST00000586919.1_Silent_p.L97L|NFIC_ENST00000341919.3_Silent_p.L106L|NFIC_ENST00000590282.1_Silent_p.L106L|NFIC_ENST00000443272.2_Silent_p.L106L NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 106 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.L97L(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) GCTGCGTGCTCTCCAACCCCG 0.667000 42 53 0 0 1 0 0 ATP6V1D 51382 broad.mit.edu 37 14 67807182 67807182 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:67807182C>T ENST00000216442.7 - 8 1127 c.577G>A c.(577-579)Gag>Aag p.E193K ATP6V1D_ENST00000555431.1_Missense_Mutation_p.E138K|ATP6V1D_ENST00000554236.1_Missense_Mutation_p.M170I|ATP6V1D_ENST00000555474.1_Missense_Mutation_p.E94K NM_015994.3 NP_057078.1 Q9Y5K8 VATD_HUMAN ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D 193 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex protein binding|proton-transporting ATPase activity, rotational mechanism p.E193K(1) lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 7 all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957) CGCTCTCTCTCATCCAGCTCT 0.358000 19 36 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117788871 117788871 + Missense_Mutation SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chrX:117788871C>T ENST00000276204.6 + 44 4990 c.4916C>T c.(4915-4917)gCg>gTg p.A1639V DOCK11_ENST00000276202.7_Missense_Mutation_p.A1639V Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1639 DHR-2. blood coagulation cytosol GTP binding p.A1639V(1) breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TTTCAGGCTGCGATGTGTTAT 0.378000 43 76 0 0 1 0 0 PUS7L 83448 broad.mit.edu 37 12 44124206 44124206 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr12:44124206C>T ENST00000416848.2 - 9 2567 c.2079G>A c.(2077-2079)ctG>ctA p.L693L PUS7L_ENST00000551923.1_Silent_p.L693L|PUS7L_ENST00000344862.5_Silent_p.L693L|PUS7L_ENST00000431332.3_Silent_p.L380L NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 693 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding p.L693L(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TTATTTCCTTCAGACAAACGG 0.373000 15 34 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48584552 48584552 + Nonsense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr18:48584552C>G ENST00000342988.3 + 6 1263 c.725C>G c.(724-726)tCa>tGa p.S242* SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S242*|SMAD4_ENST00000588745.1_Intron NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 242 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2)|p.S242*(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CAGATAGCATCAGGGCCTCAG 0.433000 14 8 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 42984468 42984468 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr20:42984468C>T ENST00000457232.1 + 1 28 c.24C>T c.(22-24)ctC>ctT p.L8L NM_001030003.2|NM_175914.4 NP_001025174.1|NP_787110.2 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 156 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.L8L(1) endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) ACGCGCCCCTCGGGGCTCCAG 0.682000 20 9 0 0 1 0 0 VSIG2 23584 broad.mit.edu 37 11 124619682 124619682 + Missense_Mutation SNP C C T rs114520645 by1000genomes TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:124619682C>T ENST00000403470.1 - 4 563 c.508G>A c.(508-510)Gag>Aag p.E170K VSIG2_ENST00000326621.5_Missense_Mutation_p.E170K Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 170 Ig-like C2-type. integral to plasma membrane|membrane fraction p.E170K(1) central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) GGAGCCCCCTCGGAAGAGCTG 0.512000 15 46 0 0 1 0 0 BMPR1A 657 broad.mit.edu 37 10 88677025 88677025 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr10:88677025C>T ENST00000372037.2 + 9 1347 c.810C>T c.(808-810)agC>agT p.S270S NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 270 Protein kinase. BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity p.S270S(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 AAGAAGCCAGCTGGTTTCGAG 0.448000 """Mis, N, F""" gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 4 6 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123670659 123670659 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr10:123670659G>A ENST00000369043.3 - 5 431 c.345C>T c.(343-345)ccC>ccT p.P115P ATE1_ENST00000224652.6_Silent_p.P115P|ATE1_ENST00000543447.1_5'UTR|ATE1_ENST00000369040.3_Silent_p.P19P|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000540606.1_Silent_p.P108P NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 115 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity p.P115P(2) endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) TGGAATCCATGGGCTCATCTA 0.358000 27 21 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6707234 6707234 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:6707234C>G ENST00000245907.6 - 17 2190 c.2098G>C c.(2098-2100)Gag>Cag p.E700Q NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 700 Anaphylatoxin-like. E -> Q (in Ref. 5; AA sequence). 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 p.E700Q(1) 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) ATGGGGTTCTCCCGCATGCCG 0.652000 8 12 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24924444 24924444 + Missense_Mutation SNP G G C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr15:24924444G>C ENST00000329468.2 + 1 3904 c.3430G>C c.(3430-3432)Gaa>Caa p.E1144Q NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.E1144Q(1) CTATGGACAAGAAACATATGT 0.448000 25 57 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 3 29 0 0 1 0 0 ZNF300P1 134466 broad.mit.edu 37 5 150311305 150311305 + RNA SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr5:150311305C>G ENST00000520773.1 - 0 2016 TTTCCACATTCAACACATACA 0.353000 4 7 0 0 1 0 0 SLC39A13 91252 broad.mit.edu 37 11 47431696 47431696 + Silent SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:47431696C>G ENST00000524928.1 + 1 61 c.51C>G c.(49-51)ctC>ctG p.L17L SLC39A13_ENST00000354884.4_Silent_p.L17L|SLC39A13_ENST00000533076.1_Silent_p.L17L|SLC39A13_ENST00000362021.4_Silent_p.L17L|SLC39A13_ENST00000531974.1_Silent_p.L17L Q96H72 S39AD_HUMAN solute carrier family 39 (zinc transporter), member 13 17 zinc ion transport integral to membrane metal ion transmembrane transporter activity p.L17L(1) breast(1)|kidney(1)|lung(1)|prostate(1) 4 Lung(87;0.0936) CAAGGCTCCTCTTCCTCACTG 0.637000 30 75 0 0 1 0 0 PSMD11 5717 broad.mit.edu 37 17 30781559 30781559 + Missense_Mutation SNP C C G TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:30781559C>G ENST00000261712.3 + 3 503 c.240C>G c.(238-240)atC>atG p.I80M PSMD11_ENST00000457654.2_Missense_Mutation_p.I80M NM_001270482.1|NM_002815.3 NP_001257411.1|NP_002806.2 O00231 PSD11_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 80 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding p.I80M(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) TGAATTCCATCAGCAAGGCTA 0.428000 24 68 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150789333 150789333 + Frame_Shift_Del DEL G G - TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:150789333delG ENST00000358595.5 - 18 1933 c.1733delC c.(1732-1734)ctfs p.P578fs ARNT_ENST00000515192.1_Frame_Shift_Del_p.P564fs|ARNT_ENST00000505755.1_Frame_Shift_Del_p.P563fs|ARNT_ENST00000354396.2_Frame_Shift_Del_p.P578fs NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 578 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TTGGGTGGCAGGGACAGTGCT 0.537 T ETV6 AML 24 60 --- --- --- --- FASLG 356 broad.mit.edu 37 1 172633495 172633495 + Frame_Shift_Del DEL A A - rs35774809 TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:172633495delA ENST00000367721.2 + 3 600 c.416delA c.(415-417)gafs p.E139fs FASLG_ENST00000340030.3_Frame_Shift_Del_p.K125fs NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 139 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 CCACCCCCTGAAAAAAAGGAG 0.408 17 55 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237972262 237972263 + Frame_Shift_Ins INS - - T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr1:237972262_237972263insT ENST00000366574.2 + 100 14677_14678 c.14360_14361insT c.(14359-14361)attfs p.I4787fs RYR2_ENST00000360064.6_Frame_Shift_Ins_p.I4793fs|RYR2_ENST00000542537.1_Frame_Shift_Ins_p.I4771fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4787 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.N4785I(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTGGCATTCAATTTTTTCCGAA 0.356 7 336 --- --- --- --- NFKBIZ 64332 broad.mit.edu 37 3 101571949 101571950 + Frame_Shift_Ins INS - - C TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr3:101571949_101571950insC ENST00000326172.5 + 5 694_695 c.579_580insC c.(577-582)accaacfs p.N194fs NFKBIZ_ENST00000326151.5_Frame_Shift_Ins_p.N194fs|NFKBIZ_ENST00000394054.2_Frame_Shift_Ins_p.N94fs NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 CACCTCAAACACCAACGCCCGG 0.421 23 16 --- --- --- --- UBQLN1 29979 broad.mit.edu 37 9 86279969 86279970 + Frame_Shift_Ins INS - - T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr9:86279969_86279970insT ENST00000376395.4 - 9 1946_1947 c.1423_1424insA c.(1423-1425)ggafs p.G475fs UBQLN1_ENST00000257468.7_Frame_Shift_Ins_p.G447fs NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 475 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 CGGGGCTTCCGTTGCTAATGTC 0.421 13 15 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118363894 118363894 + Frame_Shift_Del DEL A A - TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr11:118363894delA ENST00000534358.1 + 16 5150 c.5127delA c.(5125-5127)ttfs p.L1709fs KMT2A_ENST00000389506.5_Frame_Shift_Del_p.L1706fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.L1668fs NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGCAGCCTTTAGATCTAGAAG 0.478 33 58 --- --- --- --- IGHV4-4 28401 broad.mit.edu 37 14 106478551 106478551 + RNA DEL G G - TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr14:106478551delG ENST00000390596.2 - 0 52 TTCTTGTGCAGGAGGTCCATG 0.517 3 3 --- --- --- --- RANGRF 29098 broad.mit.edu 37 17 8192632 8192661 + In_Frame_Del DEL CTGTTCAGCCTCTCAGTTTGGAGAACCTGG CTGTTCAGCCTCTCAGTTTGGAGAACCTGG - rs112961604 byFrequency TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:8192632_8192661delCTGTTCAGCCTCTCAGTTTGGAGAACCTGG ENST00000439238.3 + 3 362_391 c.251_280delCTGTTCAGCCTCTCAGTTTGGAGAACCTGG c.(250-282)tcc>t p.SVQPLSLENLA84del RANGRF_ENST00000226105.6_In_Frame_Del_p.SVQPLSLENLA84del|SLC25A35_ENST00000580340.1_3'UTR|RANGRF_ENST00000580434.1_In_Frame_Del_p.SVQPLSLENLA84del|SLC25A35_ENST00000396278.1_Intron|RANGRF_ENST00000407006.4_In_Frame_Del_p.SVQPLSLENLA84del|SLC25A35_ENST00000380067.2_3'UTR|SLC25A35_ENST00000579192.1_Intron Q9HD47 MOG1_HUMAN RAN guanine nucleotide release factor 84 protein transport cytoplasm|nucleus guanyl-nucleotide exchange factor activity endometrium(1) 1 CATGTGGAGTCTGTTCAGCCTCTCAGTTTGGAGAACCTGGCCCTGAGGGG 0.591 10 76 --- --- --- --- ERBB2 2064 broad.mit.edu 37 17 37880981 37880982 + In_Frame_Ins INS - - GCATACGTGATG TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fda17b-1de0-4b7e-bd28-a6793bc36d37 1b729e4e-a30c-4ae4-8de3-9fd4d7d3a146 g.chr17:37880981_37880982insGCATACGTGATG ENST00000406381.2 + 22 2730_2731 c.2220_2221insGCATACGTGATG c.(2218-2223)gacata>gaGCATACGTGATGcata p.740_740D>EHT*C ERBB2_ENST00000584601.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000269571.5_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000540147.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000584450.1_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000445658.2_In_Frame_Ins_p.494_494D>EHT*C|ERBB2_ENST00000541774.1_In_Frame_Ins_p.755_755D>EHT*C NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 770 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GTCCCCAGGAAGCATACGTGAT 0.594 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 11 72 --- --- --- ---