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 SLC52A2 79581 broad.mit.edu 37 8 145583069 145583069 + Missense_Mutation SNP A A G TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr8:145583069A>G ENST00000532887.1 + 2 699 c.116A>G c.(115-117)aAa>aGa p.K39R SLC52A2_ENST00000530047.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000540505.1_Intron|SLC52A2_ENST00000402965.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000329994.2_Missense_Mutation_p.K39R|SLC52A2_ENST00000527078.1_Missense_Mutation_p.K39R|SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000526752.1_Missense_Mutation_p.K39R Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 39 integral to plasma membrane receptor activity|riboflavin transporter activity GTGGTGGTCAAAGAGCTTCCA 0.647000 4 23 0 0 1 0 0 DKC1 1736 broad.mit.edu 37 X 154003524 154003524 + Silent SNP T T A TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chrX:154003524T>A ENST00000369550.5 + 13 1524 c.1314T>A c.(1312-1314)gtT>gtA p.V438V DKC1_ENST00000475966.1_3'UTR NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 438 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGCAGGTAGTTGCCGAAGCAG 0.468000 Congenital Dyskeratosis 39 49 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111912 57111912 + Silent SNP G G A rs2926744 TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr12:57111912G>A ENST00000454682.1 - 3 3683 c.3402C>T c.(3400-3402)ccC>ccT p.P1134P NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 5 109 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135715913 135715913 + Splice_Site SNP C C G TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr6:135715913C>G ENST00000367800.4 - 21 3326 c.e21+1 AHI1_ENST00000327035.6_Splice_Site|AHI1_ENST00000417892.2_Splice_Site|AHI1_ENST00000457866.2_Splice_Site NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) AAGGGGCTCACCGGTCTGAGT 0.388000 3 6 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 3 34 0 0 1 0 0 ZNF410 57862 broad.mit.edu 37 14 74390223 74390223 + Missense_Mutation SNP G G C TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr14:74390223G>C ENST00000555044.1 + 11 1590 c.1396G>C c.(1396-1398)Gag>Cag p.E466Q ZNF410_ENST00000334521.4_Missense_Mutation_p.E413Q|ZNF410_ENST00000540593.1_Missense_Mutation_p.E393Q|RP5-1021I20.5_ENST00000555916.1_RNA|ZNF410_ENST00000442160.3_Missense_Mutation_p.E483Q|ZNF410_ENST00000324593.6_Missense_Mutation_p.E419Q NM_001242928.1|NM_021188.2 NP_001229857.1|NP_067011.1 Q86VK4 ZN410_HUMAN zinc finger protein 410 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.00369) AAATCCACAAGAGGTAAAGTG 0.443000 40 54 0 0 1 0 0 HERC2P2 0 broad.mit.edu 37 15 23300080 23300080 + RNA SNP T T C rs28482434 by1000genomes TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr15:23300080T>C ENST00000560464.1 - 0 4207 TGCTGCACGTTGACAGGCGTG 0.612000 3 39 0 0 1 0 0 HERC2P2 0 broad.mit.edu 37 15 23300079 23300079 + RNA SNP T T G rs417713 by1000genomes TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr15:23300079T>G ENST00000560464.1 - 0 4208 GTGCTGCACGTTGACAGGCGT 0.607000 3 39 0 0 1 0 0 BRF2 55290 broad.mit.edu 37 8 37704689 37704689 + Silent SNP G G A TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr8:37704689G>A ENST00000220659.6 - 3 339 c.219C>T c.(217-219)ctC>ctT p.L73L BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Silent_p.L73L NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 73 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) TCACTCGCCGGAGACCTAGGA 0.498000 18 25 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43898562 43898562 + Missense_Mutation SNP G G A TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr22:43898562G>A ENST00000417669.1 + 6 1231 c.787G>A c.(787-789)Ggc>Agc p.G263S MPPED1_ENST00000414469.2_Missense_Mutation_p.G157S|MPPED1_ENST00000538182.1_Missense_Mutation_p.G296S|MPPED1_ENST00000439548.1_Missense_Mutation_p.G105S|MPPED1_ENST00000443721.1_Missense_Mutation_p.G263S|MPPED1_ENST00000542779.1_Missense_Mutation_p.G263S O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 263 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) GCAGCGGGTGGGCTGTGTGGA 0.632000 20 139 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346615 71346615 + Silent SNP C C T TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr4:71346615C>T ENST00000413702.1 + 4 442 c.154C>T c.(154-156)Cta>Tta p.L52L MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.L52L|MUC7_ENST00000304887.5_Silent_p.L52L NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 52 extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) TCCTGGACTGCTAGCTCACCA 0.458000 4 98 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378296 16378296 + Silent SNP A A C TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr1:16378296A>C ENST00000375679.4 + 14 1500 c.1389A>C c.(1387-1389)ccA>ccC p.P463P CLCNKB_ENST00000375667.3_Silent_p.P294P NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CCATCATGCCAGGGGGGTATG 0.622000 4 87 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15149 15149 + Missense_Mutation SNP T T C TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chrM:15149T>C ENST00000361789.2 + 1 403 c.403T>C c.(403-405)Tga>Cga p.135_135insR mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 ATGTCCTCCCGTGAGGCCAAA 0.453000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 11 0 0 0 1 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45731482 45731482 + Missense_Mutation SNP C C T TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr19:45731482C>T ENST00000413988.1 - 3 173 c.133G>A c.(133-135)Gaa>Aaa p.E45K EXOC3L2_ENST00000252482.3_Missense_Mutation_p.E45K NM_138568.3 NP_612635.3 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 45 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) CAGTGCTCTTCGTCCTCCTGC 0.642000 5 229 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241447070 241447070 + Missense_Mutation SNP G G T TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr2:241447070G>T ENST00000391987.1 - 13 2532 c.2166C>A c.(2164-2166)aaC>aaA p.N722K ANKMY1_ENST00000272972.3_Missense_Mutation_p.N722K|ANKMY1_ENST00000403283.1_Missense_Mutation_p.N624K|ANKMY1_ENST00000401804.1_Missense_Mutation_p.N811K|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Missense_Mutation_p.N492K|ANKMY1_ENST00000361678.4_Missense_Mutation_p.N498K|ANKMY1_ENST00000406958.1_Missense_Mutation_p.N483K Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 722 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TCAGGGGCAGGTTGGGGTCAG 0.592000 20 20 5.45024e-15 5.69798e-15 1 1 0 NUP35 129401 broad.mit.edu 37 2 183998333 183998333 + Missense_Mutation SNP A A G TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr2:183998333A>G ENST00000295119.4 + 4 482 c.379A>G c.(379-381)Aca>Gca p.T127A NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000409798.1_Missense_Mutation_p.T110A NM_138285.3 NP_612142.2 Q8NFH5 NUP53_HUMAN nucleoporin 35kDa 127 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 TGTTGGAGTTACATCTACTCC 0.373000 2 6 0 0 1 0 0 SNHG1 0 broad.mit.edu 37 11 62621150 62621150 + RNA SNP G G C TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr11:62621150G>C ENST00000384693.1 - 0 54 NR_002561.1 TCAGATTTCAGAGTCTCAACA 0.448000 3 98 0 0 1 0 0 ACSM5 54988 broad.mit.edu 37 16 20430680 20430680 + Missense_Mutation SNP A A C TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr16:20430680A>C ENST00000331849.4 + 4 693 c.546A>C c.(544-546)gaA>gaC p.E182D ACSM5_ENST00000575584.1_Missense_Mutation_p.E182D NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 182 E -> K (in dbSNP:rs7192210). fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 TCAGTGCCGAATGCCCCTCCC 0.587000 25 37 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165947659 165947659 + Missense_Mutation SNP G G C TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr2:165947659G>C ENST00000360093.3 - 28 5495 c.5004C>G c.(5002-5004)atC>atG p.I1668M SCN3A_ENST00000283254.7_Missense_Mutation_p.I1668M|SCN3A_ENST00000409101.3_Missense_Mutation_p.I1619M|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.I151M NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1668 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AGATGGCATAGATAAACATGA 0.458000 31 39 0 0 1 0 0 DHX33 56919 broad.mit.edu 37 17 5353712 5353712 + Silent SNP G G A TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr17:5353712G>A ENST00000225296.3 - 10 1739 c.1539C>T c.(1537-1539)tcC>tcT p.S513S DHX33_ENST00000433302.3_Silent_p.S289S NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 513 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GGAATTTGGGGGACATGAGGA 0.473000 3 94 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 5 34 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153042366 153042366 + Missense_Mutation SNP C C T TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chrX:153042366C>T ENST00000538966.1 + 30 5198 c.4927C>T c.(4927-4929)Ctc>Ttc p.L1643F PLXNB3_ENST00000361971.5_Missense_Mutation_p.L1620F|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Missense_Mutation_p.L1273F NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1620 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AACAGTGGGGCTCGTCCCTCA 0.682000 11 10 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130506914 130506914 + Nonsense_Mutation SNP T T A TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr9:130506914T>A ENST00000314830.8 - 7 1842 c.1729A>T c.(1729-1731)Aag>Tag p.K577* SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.K223*|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.K417*|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.K509*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.K420*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.K419* NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 577 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TCCTTGACCTTGCGCAGAAGG 0.622000 18 115 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69171306 69171306 + Missense_Mutation SNP C C T TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr3:69171306C>T ENST00000420581.2 - 1 411 c.232G>A c.(232-234)Gaa>Aaa p.E78K LMOD3_ENST00000489031.1_Missense_Mutation_p.E78K|LMOD3_ENST00000475434.1_Missense_Mutation_p.E78K NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 78 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) GATGCCTTTTCCCAATACATA 0.463000 3 2 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48788300 48788300 + Missense_Mutation SNP C C T TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr15:48788300C>T ENST00000316623.5 - 20 2871 c.2416G>A c.(2416-2418)Gaa>Aaa p.E806K NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 806 EGF-like 12; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GGTTTACCTTCACATGTTTTT 0.358000 12 13 0 0 1 0 0 SEPT6 23157 broad.mit.edu 37 X 118797459 118797459 + Silent SNP G G T TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chrX:118797459G>T ENST00000394610.1 - 3 591 c.327C>A c.(325-327)atC>atA p.I109I SEPT6_ENST00000489216.1_Silent_p.I109I|SEPT6_ENST00000394616.4_Silent_p.I51I|SEPT6_ENST00000394617.2_Silent_p.I139I|SEPT6_ENST00000343984.5_Silent_p.I109I|SEPT6_ENST00000360156.7_Silent_p.I109I|SEPT6_ENST00000354416.3_Silent_p.I109I|SEPT6_ENST00000354228.4_Silent_p.I109I NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 109 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 CCTCTTTGTTGATCTGGTCCC 0.557000 T MLL AML 19 282 9.95505e-16 1.06496e-15 1 1 0 ABCG5 64240 broad.mit.edu 37 2 44055183 44055183 + Silent SNP C C T TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr2:44055183C>T ENST00000405322.1 - 4 1226 c.330G>A c.(328-330)ggG>ggA p.G110G ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000260645.1_Silent_p.G191G Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 191 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGGAAATGCCCCCCAAGCTGT 0.592000 10 54 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71218818 71218818 + Nonsense_Mutation SNP G G A TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr16:71218818G>A ENST00000393567.2 - 3 361 c.211C>T c.(211-213)Cga>Tga p.R71* HYDIN_ENST00000541601.1_Nonsense_Mutation_p.R88*|HYDIN_ENST00000538248.1_Nonsense_Mutation_p.R98*|HYDIN_ENST00000448089.2_Nonsense_Mutation_p.R71*|HYDIN_ENST00000393550.2_Nonsense_Mutation_p.R71*|HYDIN_ENST00000321489.5_Nonsense_Mutation_p.R71*|HYDIN_ENST00000448691.1_Nonsense_Mutation_p.R71*|HYDIN_ENST00000288168.10_Nonsense_Mutation_p.R88* NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 71 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATCTGTGGTCGGCACATCAAA 0.463000 3 73 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74476216 74476216 + Missense_Mutation SNP C C G TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr15:74476216C>G ENST00000323940.5 - 14 1526 c.1281G>C c.(1279-1281)caG>caC p.Q427H STRA6_ENST00000563965.1_Missense_Mutation_p.Q466H|STRA6_ENST00000574278.1_Missense_Mutation_p.Q442H|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000535552.1_Missense_Mutation_p.Q464H|STRA6_ENST00000449139.2_Missense_Mutation_p.Q427H|STRA6_ENST00000423167.2_Missense_Mutation_p.Q418H|STRA6_ENST00000395105.4_Missense_Mutation_p.Q427H|STRA6_ENST00000416286.3_Missense_Mutation_p.Q419H NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 427 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 TAAAGGCTGTCTGGTAGGCAC 0.612000 84 107 0 0 1 0 0 PSMC3IP 29893 broad.mit.edu 37 17 40725136 40725136 + Missense_Mutation SNP T T G TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr17:40725136T>G ENST00000393795.3 - 7 694 c.586A>C c.(586-588)Aag>Cag p.K196Q PSMC3IP_ENST00000587209.1_Missense_Mutation_p.K133Q|MLX_ENST00000435881.2_3'UTR|PSMC3IP_ENST00000253789.5_Missense_Mutation_p.K184Q|PSMC3IP_ENST00000590760.1_Missense_Mutation_p.K71Q|MLX_ENST00000246912.4_3'UTR|MLX_ENST00000346833.4_3'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 196 DNA recombination|meiosis nucleus DNA binding 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) AAGAACTGCTTCTTGCTCTTG 0.488000 17 13 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296554 39296554 + Silent SNP A A G TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr17:39296554A>G ENST00000345847.4 - 1 185 c.186T>C c.(184-186)cgT>cgC p.R62R NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 62 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 agcagctgggacggcagcAGG 0.672000 6 219 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1409913 1409913 + Silent SNP G G A TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr5:1409913G>A ENST00000270349.9 - 10 1448 c.1321C>T c.(1321-1323)Ctg>Ttg p.L441L SLC6A3_ENST00000453492.2_Silent_p.L441L NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 441 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TGTCTGTGCAGCAGCTGGAAC 0.617000 4 145 0 0 1 0 0 GPR151 134391 broad.mit.edu 37 5 145895223 145895223 + Missense_Mutation SNP A A C TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr5:145895223A>C ENST00000311104.2 - 1 530 c.454T>G c.(454-456)Tac>Gac p.Y152D NM_194251.2 NP_919227.2 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 152 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGATGGTGTAGTTGTGGATA 0.527000 52 82 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6691343 6691343 + Missense_Mutation SNP A A C TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr12:6691343A>C ENST00000309577.6 - 29 4722 c.4559T>G c.(4558-4560)gTc>gGc p.V1520G CHD4_ENST00000544040.1_Missense_Mutation_p.V1485G|CHD4_ENST00000544484.1_Missense_Mutation_p.V1517G|CHD4_ENST00000357008.2_Missense_Mutation_p.V1492G|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1492 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TCTAGTAAGGACATGCTGGCG 0.542000 4 53 0 0 1 0 0 GBP5 115362 broad.mit.edu 37 1 89732216 89732216 + Missense_Mutation SNP G G C TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr1:89732216G>C ENST00000343435.5 - 7 1217 c.681C>G c.(679-681)ttC>ttG p.F227L RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Missense_Mutation_p.F227L NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 227 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TTTTTGGAAAGAACTTCTGTA 0.368000 15 16 0 0 1 0 0 CETP 1071 broad.mit.edu 37 16 57015114 57015114 + Silent SNP C C T TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr16:57015114C>T ENST00000200676.3 + 12 1321 c.1191C>T c.(1189-1191)ctC>ctT p.L397L CETP_ENST00000379780.2_Silent_p.L337L|CETP_ENST00000566128.1_Silent_p.L332L NM_000078.2 NP_000069.2 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 397 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3) 23 AGAAAAAGCTCTTCTTAAGCC 0.547000 13 28 0 0 1 0 0 GDI1 2664 broad.mit.edu 37 X 153668409 153668409 + Silent SNP C C T TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chrX:153668409C>T ENST00000447750.2 + 5 845 c.510C>T c.(508-510)gaC>gaT p.D170D NM_001493.2 NP_001484.1 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 170 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 16 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCATGCGTGACGTCTACCGGA 0.572000 8 468 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103324773 103324773 + Missense_Mutation SNP A A G TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr2:103324773A>G ENST00000233969.2 + 12 2406 c.2264A>G c.(2263-2265)aAg>aGg p.K755R NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 755 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 AGCAGAGAAAAGGGCACCCAG 0.532000 3 107 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7800502 7800502 + Missense_Mutation SNP G G C TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr17:7800502G>C ENST00000380358.4 + 11 1987 c.1986G>C c.(1984-1986)aaG>aaC p.K662N CHD3_ENST00000358181.4_Missense_Mutation_p.K603N|CHD3_ENST00000330494.7_Missense_Mutation_p.K603N NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 603 Chromo 2. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) ATGATGGGAAGAGCGACAAGC 0.512000 36 53 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147381186 147381186 + Frame_Shift_Del DEL G G - rs145146702 byFrequency TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr1:147381186delG ENST00000240986.4 + 2 1157 c.1104delG c.(1102-1104)gafs p.E368fs GJA8_ENST00000369235.1_Frame_Shift_Del_p.E368fs NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 368 cell communication|visual perception connexon complex|integral to plasma membrane channel activity p.E368D(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CCGTGCCAGAGGGGGAGAAAG 0.612 2 4 --- --- --- --- STAB1 23166 broad.mit.edu 37 3 52547907 52547908 + Frame_Shift_Ins INS - - C TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr3:52547907_52547908insC ENST00000321725.6 + 32 3433_3434 c.3357_3358insC c.(3355-3360)ctccccfs p.LP1119fs NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1119 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.R1122fs*37(1) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) AGGTCTTACTGCCCCCCCGAGG 0.624 7 517 --- --- --- --- GPR98 84059 broad.mit.edu 37 5 90087090 90087090 + Frame_Shift_Del DEL A A - TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr5:90087090delA ENST00000405460.2 + 70 14540 c.14444delA c.(14443-14445)gafs p.E4815fs GPR98_ENST00000425867.2_Frame_Shift_Del_p.E476fs NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4815 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATTGTTACCGAAAATGCAGAG 0.448 2 4 --- --- --- --- CALD1 800 broad.mit.edu 37 7 134618624 134618625 + Frame_Shift_Ins INS - - C TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr7:134618624_134618625insC ENST00000361675.2 + 5 1333_1334 c.1104_1105insC c.(1102-1107)gaagagfs p.EE368fs CALD1_ENST00000417172.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000424922.1_Intron Q05682 CALD1_HUMAN caldesmon 1 368 3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K. cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 gggcagcagaggagaggCAAAG 0.505 2 4 --- --- --- --- TG 7038 broad.mit.edu 37 8 133978928 133978929 + Frame_Shift_Ins INS - - A TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr8:133978928_133978929insA ENST00000220616.4 + 30 5712_5713 c.5672_5673insA c.(5671-5673)ctgfs p.L1891fs TG_ENST00000542445.1_Frame_Shift_Ins_p.L261fs|TG_ENST00000377869.1_Frame_Shift_Ins_p.L1834fs|TG_ENST00000519543.1_Frame_Shift_Ins_p.L45fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1891 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGGCAAACCTATGGTGCCTTT 0.480 26 34 --- --- --- --- C11orf95 65998 broad.mit.edu 37 11 63533335 63533337 + RNA DEL TCC TCC - TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr11:63533335_63533337delTCC ENST00000433688.1 - 0 597_599 C9JLR9 CK095_HUMAN chromosome 11 open reading frame 95 intracellular zinc ion binding ctcctcttcttcctcctcctcct 0.670 3 5 --- --- --- --- NR2E3 10002 broad.mit.edu 37 15 72103780 72103795 + RNA DEL GGCCCAGCCCTGCCCT GGCCCAGCCCTGCCCT - rs11271584 by1000genomes TCGA-EL-A3H1-01A-11D-A21A-08 TCGA-EL-A3H1-11A-11D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62fceb56-8c6e-4d20-9d2f-5b7042854d23 0569a3fc-932d-4acc-8c2d-3bf9999c3138 g.chr15:72103780_72103795delGGCCCAGCCCTGCCCT ENST00000398840.2 + 0 308 Q9Y5X4 NR2E3_HUMAN nuclear receptor subfamily 2, group E, member 3 phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|endometrium(1)|lung(1) 3 gccctgccccggcccagccctgccctggcccagccc 0.690 3 4 --- --- --- ---