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 NOTCH1 4851 broad.mit.edu 37 9 139413085 139413085 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr9:139413085G>A ENST00000277541.6 - 6 1132 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 353 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.R353C(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GAGGCCACACGGTCATGGCAG 0.652000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 3 16 0 0 0.004672 0 0 CAMK1D 57118 broad.mit.edu 37 10 12867572 12867572 + Splice_Site SNP C C G TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr10:12867572C>G ENST00000378847.3 + 10 1259 c.921_splice c.e10-1 p.Q308_splice CAMK1D_ENST00000378845.1_Splice_Site_p.Q308_splice NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 308 Autoinhibitory domain (By similarity).|Calmodulin-binding (By similarity). calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) GAAATTTCAGCAAGCATTTAA 0.413000 5 80 0 0 0.021553 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723793 140723793 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr5:140723793C>T ENST00000253812.6 + 1 193 c.193C>T c.(193-195)Cgc>Tgc p.R65C PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.R65C(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGAGTCCGCATCGTCTC 0.617000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 136 0 0 0.020292 0 0 C3orf38 285237 broad.mit.edu 37 3 88199220 88199220 + Silent SNP C C G TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr3:88199220C>G ENST00000318887.3 + 1 328 c.18C>G c.(16-18)ctC>ctG p.L6L C3orf38_ENST00000486971.1_Silent_p.L6L NM_173824.3 NP_776185.2 Q5JPI3 CC038_HUMAN chromosome 3 open reading frame 38 6 apoptosis breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 12 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TGTCGGGACTCAGCTTTTCAG 0.617000 3 24 0 0 0.004672 0 0 CCR1 1230 broad.mit.edu 37 3 46244880 46244880 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr3:46244880G>A ENST00000296140.3 - 2 1050 c.925C>T c.(925-927)Cgg>Tgg p.R309W CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 309 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) AGGTACTTCCGGAACCTCTCA 0.587000 3 25 0 0 0.004672 0 0 C11orf53 341032 broad.mit.edu 37 11 111154935 111154935 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr11:111154935G>A ENST00000280325.4 + 3 289 c.142G>A c.(142-144)Gca>Aca p.A48T NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 48 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) TGAGTCCTCCGCAGGGCAGAG 0.582000 7 178 0 0 0.038147 0 0 LAMB3 3914 broad.mit.edu 37 1 209803116 209803116 + Silent SNP C C A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr1:209803116C>A ENST00000391911.1 - 9 1487 c.1098G>T c.(1096-1098)cgG>cgT p.R366R LAMB3_ENST00000356082.4_Silent_p.R366R|LAMB3_ENST00000367030.3_Silent_p.R366R NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 366 Laminin EGF-like 2. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CTCCCGGGCGCCGGTTCCGGA 0.582000 4 53 0.00909568 0.0106775 0.009096 1 0 PPP1R26 9858 broad.mit.edu 37 9 138379027 138379027 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr9:138379027C>T ENST00000356818.2 + 4 3220 c.2671C>T c.(2671-2673)Cgc>Tgc p.R891C PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R891C|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R891C|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R891C|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R891C NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 891 nucleolus protein binding CGTGTGCACACGCAGCCAGAG 0.697000 15 57 0 0 0.020292 0 0 TRPM6 140803 broad.mit.edu 37 9 77354692 77354692 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr9:77354692G>A ENST00000451710.3 - 33 5683 c.5446C>T c.(5446-5448)Cgg>Tgg p.R1816W TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1812 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TGCCATGTCCGCACAACCTCA 0.488000 5 183 0 0 0.014758 0 0 CFHR2 3080 broad.mit.edu 37 1 196918742 196918742 + Silent SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr1:196918742C>T ENST00000367415.4 + 2 330 c.216C>T c.(214-216)tgC>tgT p.C72C CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Silent_p.C72C NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 72 Sushi 1. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 GCATAACGTGCGCAGAAGAAG 0.408000 4 40 0 0 0.014758 0 0 CRYGA 1418 broad.mit.edu 37 2 209025578 209025578 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr2:209025578C>T ENST00000304502.4 - 3 494 c.475G>A c.(475-477)Ggt>Agt p.G159S NM_014617.3 NP_055432.2 crystallin, gamma A endometrium(1)|kidney(3)|large_intestine(1)|lung(7) 12 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) GCATCTGCACCCCCCCAGTCG 0.537000 3 87 0 0 0.004672 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 6 80 0 0 0.021553 0 0 MAP1B 4131 broad.mit.edu 37 5 71492944 71492944 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr5:71492944G>A ENST00000296755.7 + 5 4060 c.3762G>A c.(3760-3762)tcG>tcA p.S1254S NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1254 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TCAGCCCATCGAAGAGCCCGT 0.493000 5 44 0 0 0.029380 0 0 C2orf16 84226 broad.mit.edu 37 2 27804893 27804893 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr2:27804893G>A ENST00000408964.2 + 1 5505 c.5454G>A c.(5452-5454)ttG>ttA p.L1818L NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1818 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) ACAGTCTCTTGGAGAGGAGCC 0.537000 6 104 0 0 0.021553 0 0 PATL1 219988 broad.mit.edu 37 11 59420024 59420024 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr11:59420024C>T ENST00000300146.9 - 11 1423 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 447 Region H. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 TGTATTTCTTCAGCAGCTGAC 0.458000 4 62 0 0 0.021553 0 0 FRMPD3 84443 broad.mit.edu 37 X 106819559 106819559 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chrX:106819559G>A ENST00000276185.4 + 14 1410 c.1410G>A c.(1408-1410)ttG>ttA p.L470L Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 470 FERM. cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 TGGTGCTGTTGATGGAGTGGC 0.552000 8 84 0 0 0.047766 0 0 BAIAP2L2 80115 broad.mit.edu 37 22 38483195 38483195 + Missense_Mutation SNP T T C TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr22:38483195T>C ENST00000381669.3 - 11 1339 c.1195A>G c.(1195-1197)Atg>Gtg p.M399V NM_025045.4 NP_079321.3 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 399 filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 8 Melanoma(58;0.045) atggaggtcatgggggtcacg 0.642000 18 11 0 0 0.038395 0 0 ESR2 2100 broad.mit.edu 37 14 64746775 64746775 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr14:64746775G>A ENST00000557772.1 - 2 458 c.459C>T c.(457-459)agC>agT p.S153S ESR2_ENST00000555278.1_Silent_p.S153S|ESR2_ENST00000554572.1_Silent_p.S153S|ESR2_ENST00000553796.1_Silent_p.S153S|ESR2_ENST00000542956.1_Silent_p.S153S|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000267525.6_Silent_p.S153S|ESR2_ENST00000341099.4_Silent_p.S153S|ESR2_ENST00000358599.5_Silent_p.S153S|ESR2_ENST00000357782.2_Silent_p.S153S|ESR2_ENST00000353772.3_Silent_p.S153S NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 153 cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) ATGCGTAATCGCTGCAGACAG 0.473000 12 207 0 0 0.105934 0 0 FLG 2312 broad.mit.edu 37 1 152286334 152286334 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr1:152286334C>T ENST00000368799.1 - 3 1063 c.1028G>A c.(1027-1029)aGa>aAa p.R343K FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 343 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGACTGGCTCTGTCTTCATC 0.562000 Ichthyosis 10 238 0 0 0.069234 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39387498 39387498 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr22:39387498G>A ENST00000402182.3 + 6 940 c.885G>A c.(883-885)gcG>gcA p.A295A APOBEC3B_ENST00000333467.3_Silent_p.A295A|APOBEC3B_ENST00000407298.3_Silent_p.A270A Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 295 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) AAGTGCGTGCGTTCCTTCAGG 0.577000 5 105 0 0 0.021553 0 0 CPA6 57094 broad.mit.edu 37 8 68423859 68423859 + Missense_Mutation SNP C C G TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr8:68423859C>G ENST00000297770.4 - 4 564 c.349G>C c.(349-351)Gag>Cag p.E117Q CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.E117Q NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 117 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) CTTCCCTTCTCCAGTGTTTTC 0.388000 6 198 0 0 0.047766 0 0 NOVA2 4858 broad.mit.edu 37 19 46444042 46444042 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr19:46444042G>A ENST00000263257.5 - 4 752 c.558C>T c.(556-558)ccC>ccT p.P186P NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 186 KH 2. nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) GCACCTGCTCGGGCTCGCCGC 0.632000 3 34 0 0 0.004672 0 0 PKD2L1 9033 broad.mit.edu 37 10 102056008 102056008 + Silent SNP G G C TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr10:102056008G>C ENST00000318222.3 - 7 1609 c.1227C>G c.(1225-1227)ctC>ctG p.L409L PKD2L1_ENST00000338519.3_Silent_p.L334L|PKD2L1_ENST00000353274.3_Silent_p.L409L NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 409 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) GATTCACCTCGAGGGTTCGGA 0.542000 3 28 0 0 0.004672 0 0 TRIM8 81603 broad.mit.edu 37 10 104415877 104415877 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr10:104415877G>A ENST00000302424.6 + 4 1037 c.915G>A c.(913-915)gtG>gtA p.V305V TRIM8_ENST00000487927.1_3'UTR NM_030912.2 NP_112174.2 Q9BZR9 TRIM8_HUMAN tripartite motif containing 8 305 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCAAGTCTGTGAAAATCCTGA 0.637000 5 209 0 0 0.021553 0 0 FAM189A2 9413 broad.mit.edu 37 9 71992331 71992331 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr9:71992331G>A ENST00000257515.8 + 5 718 c.298G>A c.(298-300)Gtc>Atc p.V100I FAM189A2_ENST00000303068.7_5'UTR|FAM189A2_ENST00000455972.1_Missense_Mutation_p.V100I NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 100 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 GACCACCACCGTCTGCTTGGT 0.532000 7 55 0 0 0.069234 0 0 RGPD4 285190 broad.mit.edu 37 2 108488636 108488636 + Missense_Mutation SNP A A T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr2:108488636A>T ENST00000408999.3 + 20 4253 c.4176A>T c.(4174-4176)caA>caT p.Q1392H RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1392H NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1392 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 ATAATAAGCAAGTTCGTATAG 0.363000 6 246 0 0 0.021553 0 0 SLC2A11 66035 broad.mit.edu 37 22 24204324 24204324 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr22:24204324G>A ENST00000345044.6 + 2 323 c.55G>A c.(55-57)Gct>Act p.A19T SLC2A11_ENST00000398356.2_Missense_Mutation_p.A26T|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000403208.3_Missense_Mutation_p.A19T|SLC2A11_ENST00000316185.8_Missense_Mutation_p.A22T|SLC2A11_ENST00000405847.1_Missense_Mutation_p.A19T Q9BYW1 GTR11_HUMAN solute carrier family 2 (facilitated glucose transporter), member 11 19 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 GACCATCTGCGCTGCCGGCAT 0.557000 4 156 0 0 0.014758 0 0 ASF1A 25842 broad.mit.edu 37 6 119226832 119226832 + Missense_Mutation SNP C C G TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr6:119226832C>G ENST00000229595.5 + 3 435 c.241C>G c.(241-243)Cca>Gca p.P81A MCM9_ENST00000316316.6_Intron NM_014034.2 NP_054753.1 Q9Y294 ASF1A_HUMAN anti-silencing function 1A histone chaperone 81 Interaction with histone H3, CHAF1B, and HIRA. chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent chromatin remodeling complex chromatin binding|histone binding endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 5 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188) TGCACCTAATCCAGGACTCAT 0.393000 3 116 0 0 0.004672 0 0 CELSR2 1952 broad.mit.edu 37 1 109794178 109794178 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr1:109794178G>A ENST00000271332.3 + 1 1538 c.1477G>A c.(1477-1479)Gta>Ata p.V493I NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 493 Cadherin 3. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTTGGTGACAGTACAGGTCCT 0.567000 4 183 0 0 0.009096 0 0 PCLO 27445 broad.mit.edu 37 7 82581315 82581315 + Missense_Mutation SNP C C G TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr7:82581315C>G ENST00000423517.2 - 5 9291 c.8954G>C c.(8953-8955)aGa>aCa p.R2985T PCLO_ENST00000333891.8_Missense_Mutation_p.R2985T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2916 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CCCAATCCCTCTATAACCATA 0.423000 7 173 0 0 0.038147 0 0 TAS2R5 54429 broad.mit.edu 37 7 141490605 141490605 + Silent SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr7:141490605C>T ENST00000247883.4 + 1 589 c.444C>T c.(442-444)ttC>ttT p.F148F NM_018980.2 NP_061853.1 Q9NYW4 TA2R5_HUMAN taste receptor, type 2, member 5 148 chemosensory behavior|sensory perception of taste taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 Melanoma(164;0.0171) GCTTAACATTCTATCATCCTC 0.433000 4 24 0 0 0.009096 0 0 SUFU 51684 broad.mit.edu 37 10 104359280 104359280 + Missense_Mutation SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr10:104359280G>A ENST00000369902.3 + 8 1167 c.1001G>A c.(1000-1002)gGc>gAc p.G334D SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.G334D|SUFU_ENST00000369899.2_Missense_Mutation_p.G334D NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 334 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) CGGCAGAATGGCCTCGCCCAC 0.582000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 6 51 0 0 0.021553 0 0 AFF4 27125 broad.mit.edu 37 5 132232314 132232314 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr5:132232314C>T ENST00000265343.5 - 11 2387 c.2008G>A c.(2008-2010)Gag>Aag p.E670K AFF4_ENST00000378595.3_Missense_Mutation_p.E670K NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 670 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity p.E670K(1) SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTATTGCTCTCGGGGTACTTA 0.443000 4 55 0 0 0.009096 0 0 IGKV2D-24 28885 broad.mit.edu 37 2 90044193 90044193 + RNA SNP G G T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr2:90044193G>T ENST00000462693.1 + 0 144 TTGGACAGCCGGCCTCCATCT 0.527000 7 105 0.0293803 0.0337561 0.029380 1 0 ENTHD1 150350 broad.mit.edu 37 22 40283601 40283601 + Nonsense_Mutation SNP G G C TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr22:40283601G>C ENST00000325157.6 - 2 402 c.152C>G c.(151-153)tCa>tGa p.S51* NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 51 ENTH. breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CATAATCTCTGAGAGAGAAAT 0.418000 3 126 0 0 0.009096 0 0 MAPK1 5594 broad.mit.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr22:22127164C>T ENST00000215832.6 - 7 1152 c.964G>A c.(964-966)Gag>Aag p.E322K MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K NM_002745.4 NP_002736.3 P28482 MK01_HUMAN mitogen-activated protein kinase 1 322 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity p.E322K(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) GCTCTTACCTCGTCACTCGGG 0.478000 3 45 0 0 0.009096 0 0 GALNT1 2589 broad.mit.edu 37 18 33283589 33283589 + Silent SNP C C G TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr18:33283589C>G ENST00000269195.5 + 10 1618 c.1515C>G c.(1513-1515)ctC>ctG p.L505L GALNT1_ENST00000537549.1_Silent_p.L445L NM_020474.3 NP_065207.2 Q10472 GALT1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) 505 Ricin B-type lectin. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 GCAACCAACTCTGGGAGTATG 0.373000 4 50 0 0 0.009096 0 0 ATAD2B 54454 broad.mit.edu 37 2 24046267 24046267 + Silent SNP G G A TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr2:24046267G>A ENST00000238789.5 - 16 2335 c.1992C>T c.(1990-1992)tcC>tcT p.S664S ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 664 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGCACGTTGGGAAGCAGGCA 0.453000 3 28 0 0 0.009096 0 0 BARHL2 343472 broad.mit.edu 37 1 91182382 91182384 + In_Frame_Del DEL GGC GGC - TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr1:91182382_91182384delGGC ENST00000370445.4 - 1 410_412 c.369_371delGCC c.(367-372)ccc>cc p.PP123del NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 123 Gln/Pro-rich. nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) CTGCTGGGGGggcggcggcggcg 0.685 2 4 --- --- --- --- CGREF1 10669 broad.mit.edu 37 2 27324372 27324422 + In_Frame_Del DEL CAGCTTCCCCTCTGGGCCCAGGGGCATCTCCTTTAGCCTCTGCCTGGCCCT CAGCTTCCCCTCTGGGCCCAGGGGCATCTCCTTTAGCCTCTGCCTGGCCCT - rs11889832 byFrequency TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr2:27324372_27324422delCAGCTTCCCCTCTGGGCCCAGGGGCATCTCCTTTAGCCTCTGCCTGGCCCT ENST00000402394.1 - 6 945_995 c.677_727delAGGGCCAGGCAGAGGCTAAAGGAGATGCCCCTGGGCCCAGAGGGGAAGCTG c.(676-729)ggg>g p.EGQAEAKGDAPGPRGEAG226del CGREF1_ENST00000260595.5_In_Frame_Del_p.EGQAEAKGDAPGPRGEAG226del|CGREF1_ENST00000404694.3_In_Frame_Del_p.EGQAEAKGDAPGPRGEAG348del|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_In_Frame_Del_p.EGQAEAKGDAPGPRGEAG226del|CGREF1_ENST00000312734.4_In_Frame_Del_p.EGQAEAKGDAPGPRGEAG226del NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 226 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding p.E226G(1) kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCTGGCCCCCAGCTTCCCCTCTGGGCCCAGGGGCATCTCCTTTAGCCTCTGCCTGGCCCTCAGCTTCCCC 0.681 10 270 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28518115 28518115 + Frame_Shift_Del DEL C C - TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr15:28518115delC ENST00000261609.7 - 8 944 c.836delG c.(835-837)gafs p.G279fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 279 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.G279V(1)|p.G279fs*25(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGGGATGCTTCCTGGCCCTTT 0.592 7 62 --- --- --- --- TUBB8P7 197331 broad.mit.edu 37 16 90160897 90160898 + RNA INS - - GCG TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr16:90160897_90160898insGCG ENST00000564451.1 + 0 848_849 TUBB8P7_ENST00000567960.1_RNA CTCCTGGGAACGCGGCCCTCCC 0.728 7 21 --- --- --- --- BAIAP2L2 80115 broad.mit.edu 37 22 38483189 38483190 + In_Frame_Ins INS - - GGTCATGGG rs71803583 TCGA-CV-5971-01A-11D-1683-08 TCGA-CV-5971-11A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881a530b-fdd2-4674-b95d-fded0dfce4ff cd1d0b67-31b2-49c8-abcc-bb2aebb05646 g.chr22:38483189_38483190insGGTCATGGG ENST00000381669.3 - 11 1344_1345 c.1200_1201insCCCATGACC c.(1198-1203)acccat>acCCCATGACCccat p.400_401TH>TP*PH NM_025045.4 NP_079321.3 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 400 filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 8 Melanoma(58;0.045) gaggtcatggaggtcatggggg 0.658 15 17 --- --- --- ---