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 LILRA2 11027 broad.mit.edu 37 19 55087360 55087360 + Silent SNP C C A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr19:55087360C>A ENST00000251377.3 + 7 1172 c.1039C>A c.(1039-1041)Cgg>Agg p.R347R LILRA2_ENST00000391737.1_Silent_p.R335R|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.R347R|LILRA2_ENST00000251376.3_Silent_p.R347R|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GTGTCAGTCACGGGGGCAGTT 0.572000 10 29 2.17888e-05 4.6522e-05 0.006214 1 0 TBC1D31 93594 broad.mit.edu 37 8 124109637 124109637 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr8:124109637C>T ENST00000287380.1 + 6 877 c.787C>T c.(787-789)Cat>Tat p.H263Y TBC1D31_ENST00000309336.3_Missense_Mutation_p.H263Y|TBC1D31_ENST00000327098.5_Missense_Mutation_p.H263Y|TBC1D31_ENST00000521676.1_Missense_Mutation_p.H158Y|TBC1D31_ENST00000522420.1_Missense_Mutation_p.H158Y|TBC1D31_ENST00000378080.2_Missense_Mutation_p.H158Y NM_145647.3 NP_663622.2 TBC1 domain family, member 31 AGCCATTCGCCATCTGGAATT 0.433000 12 41 0 0 0.013537 0 0 SGK3 23678 broad.mit.edu 37 8 67755752 67755752 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr8:67755752G>A ENST00000396596.1 + 14 1258 c.1044G>A c.(1042-1044)ggG>ggA p.G348G SGK3_ENST00000520976.1_Intron|SGK3_ENST00000345714.4_Silent_p.G348G|SGK3_ENST00000522398.1_Silent_p.G348G|C8orf44-SGK3_ENST00000519289.1_Silent_p.G348G|SGK3_ENST00000521198.2_Silent_p.G348G NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 348 Protein kinase. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) GGTGCCTTGGGGCTGTTCTGT 0.363000 8 36 0 0 0.003080 0 0 GATA6 2627 broad.mit.edu 37 18 19762725 19762725 + Missense_Mutation SNP G G T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr18:19762725G>T ENST00000269216.3 + 5 1713 c.1436G>T c.(1435-1437)aGa>aTa p.R479I GATA6_ENST00000581694.1_Missense_Mutation_p.R479I NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 479 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) TAGGTGCCCAGACCACTTGCT 0.318000 5 23 1.76689e-08 4.04593e-08 0.006214 1 0 TYW1B 441250 broad.mit.edu 37 7 72081774 72081774 + RNA SNP A A G rs3015854 by1000genomes TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr7:72081774A>G ENST00000343721.5 - 0 851 TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GCCAGGGCACATGGGCCATGG 0.493000 6 51 0 0 0.001168 0 0 SLC22A12 116085 broad.mit.edu 37 11 64361272 64361272 + Missense_Mutation SNP C C G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr11:64361272C>G ENST00000377574.1 + 4 1574 c.827C>G c.(826-828)tCc>tGc p.S276C SLC22A12_ENST00000336464.7_Missense_Mutation_p.S242C|SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000473690.1_Missense_Mutation_p.S55C|SLC22A12_ENST00000377572.1_Intron NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 276 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 TTTTTGTACTCCTGGTGGGTG 0.637000 7 17 0 0 0.004482 0 0 KIAA1432 57589 broad.mit.edu 37 9 5772654 5772654 + Missense_Mutation SNP C C G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr9:5772654C>G ENST00000414202.2 + 24 3898 c.3707C>G c.(3706-3708)tCt>tGt p.S1236C KIAA1432_ENST00000449720.2_Missense_Mutation_p.S1120C|KIAA1432_ENST00000418622.3_Missense_Mutation_p.S1157C NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 1236 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GAAAATTTCTCTACACTCAGT 0.473000 6 54 0 0 0.001168 0 0 WDFY3 23001 broad.mit.edu 37 4 85741255 85741255 + Missense_Mutation SNP C C A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr4:85741255C>A ENST00000322366.6 - 12 2083 c.1676G>T c.(1675-1677)gGa>gTa p.G559V WDFY3_ENST00000295888.4_Missense_Mutation_p.G559V Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 559 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TGTGTTTGATCCTTGAAGAAG 0.363000 5 256 0.00198382 0.0040973 0.001984 1 0 PSG2 5670 broad.mit.edu 37 19 43579694 43579694 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr19:43579694G>A ENST00000406487.1 - 3 619 c.521C>T c.(520-522)cCg>cTg p.P174L NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 174 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GCTTGTGTCCGGAGTCTCAGG 0.517000 66 319 0 0 0.014410 0 0 ADNP 23394 broad.mit.edu 37 20 49508442 49508442 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr20:49508442C>T ENST00000396029.3 - 5 3376 c.2809G>A c.(2809-2811)Gaa>Aaa p.E937K ADNP_ENST00000349014.3_Missense_Mutation_p.E937K|ADNP_ENST00000371602.4_Missense_Mutation_p.E937K|ADNP_ENST00000396032.3_Missense_Mutation_p.E937K NM_001282531.1|NM_015339.2 NP_001269460.1|NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 937 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 TGAATAGTTTCGTATTTTGAA 0.423000 36 128 0 0 0.013726 0 0 CALML5 51806 broad.mit.edu 37 10 5541089 5541089 + Silent SNP G G T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr10:5541089G>T ENST00000380332.3 - 1 444 c.313C>A c.(313-315)Cgg>Agg p.R105R NM_017422.4 NP_059118.2 Q9NZT1 CALL5_HUMAN calmodulin-like 5 105 EF-hand 3. epidermis development|signal transduction calcium ion binding|protein binding biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1) 8 GCCATGGCCCGCCTGAGCTCG 0.721000 8 27 3.09899e-07 6.84811e-07 0.004482 1 0 KCTD19 146212 broad.mit.edu 37 16 67331521 67331521 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr16:67331521G>A ENST00000304372.5 - 7 1087 c.1032C>T c.(1030-1032)tcC>tcT p.S344S NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 344 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CATATACCTCGGAAATGGTCT 0.517000 7 77 0 0 0.003080 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 16 0 0 0.004672 0 0 ZBTB17 7709 broad.mit.edu 37 1 16269047 16269047 + Missense_Mutation SNP G G A rs148819837 TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr1:16269047G>A ENST00000375733.2 - 14 2253 c.2015C>T c.(2014-2016)gCg>gTg p.A672V ZBTB17_ENST00000537142.1_Missense_Mutation_p.A590V|ZBTB17_ENST00000375743.4_Missense_Mutation_p.A672V Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 672 Interaction with HCFC1.|Interaction with MYC. negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|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;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) GACGGCTGTCGCTGCCAGTGC 0.652000 15 56 0 0 0.004990 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879117 3879117 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr18:3879117G>A ENST00000315677.3 - 4 1547 c.952C>T c.(952-954)Ctg>Ttg p.L318L DLGAP1_ENST00000584874.1_Silent_p.L318L|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Silent_p.L318L|DLGAP1_ENST00000515196.2_Silent_p.L318L NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 318 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) GGTACCTGCAGGTACTGGCAG 0.542000 14 82 0 0 0.020292 0 0 TMED6 146456 broad.mit.edu 37 16 69377389 69377389 + Missense_Mutation SNP G G C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr16:69377389G>C ENST00000288025.3 - 4 699 c.644C>G c.(643-645)tCt>tGt p.S215C RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron NM_144676.3 NP_653277.2 Q8WW62 TMED6_HUMAN transmembrane emp24 protein transport domain containing 6 215 transport endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 9 CAGGATCCCAGAAAGAATAAT 0.428000 13 62 0 0 0.016723 0 0 MX2 4600 broad.mit.edu 37 21 42771168 42771168 + Missense_Mutation SNP G G C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr21:42771168G>C ENST00000330714.3 + 10 1502 c.1318G>C c.(1318-1320)Gaa>Caa p.E440Q MX2_ENST00000496774.1_3'UTR NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 440 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) AGTAGAAGGAGAAGAAGTTGT 0.343000 16 60 0 0 0.003163 0 0 TP53 7157 broad.mit.edu 37 17 7578196 7578196 + Missense_Mutation SNP A A T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr17:7578196A>T ENST00000420246.2 - 6 785 c.653T>A c.(652-654)gTg>gAg p.V218E TP53_ENST00000455263.2_Missense_Mutation_p.V218E|TP53_ENST00000269305.4_Missense_Mutation_p.V218E|TP53_ENST00000413465.2_Missense_Mutation_p.V218E|TP53_ENST00000445888.2_Missense_Mutation_p.V218E|TP53_ENST00000359597.4_Missense_Mutation_p.V218E|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 218 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(11)|p.V218E(8)|p.0?(8)|p.V218G(5)|p.V218del(5)|p.V218A(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTCATAGGGCACCACCACACT 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 4 17 0 0 0.014758 0 0 FBN1 2200 broad.mit.edu 37 15 48808511 48808511 + Missense_Mutation SNP G G T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr15:48808511G>T ENST00000316623.5 - 11 1651 c.1196C>A c.(1195-1197)cCa>cAa p.P399Q NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 399 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) AGGATATTCTGGTCTCCCAGG 0.502000 17 64 9.16793e-09 2.1302e-08 0.004990 1 0 GYG1 2992 broad.mit.edu 37 3 148714138 148714138 + Missense_Mutation SNP G G C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr3:148714138G>C ENST00000345003.4 + 3 493 c.193G>C c.(193-195)Gac>Cac p.D65H GYG1_ENST00000483267.1_Missense_Mutation_p.D65H|GYG1_ENST00000484197.1_Missense_Mutation_p.D65H|GYG1_ENST00000296048.6_Missense_Mutation_p.D65H NM_004130.3 NP_004121.2 P46976 GLYG_HUMAN glycogenin 1 65 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) AGATGTCTTGGACAGTGGCGA 0.413000 21 73 0 0 0.008871 0 0 KIAA1210 57481 broad.mit.edu 37 X 118223067 118223067 + Missense_Mutation SNP C C G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chrX:118223067C>G ENST00000402510.2 - 11 2125 c.2126G>C c.(2125-2127)aGc>aCc p.S709T NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 709 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TAAATCAAAGCTGAAAGCTTC 0.428000 8 20 0 0 0.003080 0 0 AKR1C1 1645 broad.mit.edu 37 10 5014868 5014868 + Missense_Mutation SNP G G A rs138128200 TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr10:5014868G>A ENST00000380872.4 + 7 965 c.773G>A c.(772-774)cGc>cAc p.R258H AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.R258H NM_001353.5 NP_001344.2 aldo-keto reductase family 1, member C1 breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1) 13 ATTGCCCTGCGCTACCAGCTA 0.617000 16 72 0 0 0.004007 0 0 FBN3 84467 broad.mit.edu 37 19 8183904 8183904 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr19:8183904C>T ENST00000600128.1 - 26 3628 c.3214G>A c.(3214-3216)Gtg>Atg p.V1072M FBN3_ENST00000601739.1_Missense_Mutation_p.V1072M|FBN3_ENST00000270509.2_Missense_Mutation_p.V1072M Q75N90 FBN3_HUMAN fibrillin 3 1072 EGF-like 14; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CACTCGTCCACGTCTGAAGGT 0.617000 11 23 0 0 0.010729 0 0 ADAD1 132612 broad.mit.edu 37 4 123301363 123301363 + Missense_Mutation SNP T T A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr4:123301363T>A ENST00000296513.2 + 3 324 c.139T>A c.(139-141)Tcc>Acc p.S47T ADAD1_ENST00000388724.2_Missense_Mutation_p.S47T|ADAD1_ENST00000388725.2_Missense_Mutation_p.S29T NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 47 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTACGGCCTGTCCAAGATGGC 0.463000 12 40 0 0 0.020292 0 0 TMEM5 10329 broad.mit.edu 37 12 64202765 64202765 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr12:64202765G>A ENST00000537373.1 + 6 1393 c.445G>A c.(445-447)Gaa>Aaa p.E149K TMEM5_ENST00000261234.6_Missense_Mutation_p.E409K|TMEM5-AS1_ENST00000546214.1_RNA NM_001278237.1 NP_001265166.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 409 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) AGAAAAAATTGAAAGAAGAAA 0.299000 6 30 0 0 0.001168 0 0 CTNND2 1501 broad.mit.edu 37 5 11159742 11159742 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr5:11159742C>T ENST00000304623.8 - 12 2294 c.2105G>A c.(2104-2106)cGg>cAg p.R702Q CTNND2_ENST00000458100.2_Missense_Mutation_p.R269Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.R365Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.R702Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R611Q NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 702 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CTGTATTTTCCGATCATCCTG 0.552000 38 55 0 0 0.005524 0 0 DOCK5 80005 broad.mit.edu 37 8 25266349 25266349 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr8:25266349G>A ENST00000276440.7 + 50 5341 c.5297G>A c.(5296-5298)aGt>aAt p.S1766N NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1766 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) AGGCCAAAGAGTCTCCAGTTG 0.498000 13 15 0 0 0.013537 0 0 RHAG 6005 broad.mit.edu 37 6 49582516 49582516 + Nonsense_Mutation SNP C C A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr6:49582516C>A ENST00000371175.4 - 5 717 c.691G>T c.(691-693)Gaa>Taa p.E231* RHAG_ENST00000229810.7_Nonsense_Mutation_p.E231* NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 231 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) TCTCCAGGTTCAGCAATGGCC 0.502000 26 59 8.24728e-16 2.00472e-15 0.004656 1 0 MMP9 4318 broad.mit.edu 37 20 44642386 44642386 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr20:44642386G>A ENST00000372330.3 + 10 1720 c.1701G>A c.(1699-1701)ctG>ctA p.L567L RP11-465L10.10_ENST00000535913.1_RNA NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 567 Hemopexin-like 2. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) CCCGCAAGCTGGACTCGGTCT 0.607000 OREG0025990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 21 0 0 0.001168 0 0 KIF3B 9371 broad.mit.edu 37 20 30919058 30919058 + Missense_Mutation SNP C C T rs141907829 by1000genomes TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr20:30919058C>T ENST00000375712.3 + 9 2347 c.2180C>T c.(2179-2181)tCc>tTc p.S727F KIF3B_ENST00000418717.2_Missense_Mutation_p.S353F NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 727 Globular.|Poly-Ser. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGATCCTCCTCCTCTTCCTCA 0.498000 12 33 0 0 0.013537 0 0 ACIN1 22985 broad.mit.edu 37 14 23559758 23559758 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr14:23559758C>T ENST00000262710.1 - 3 790 c.463G>A c.(463-465)Gaa>Aaa p.E155K ACIN1_ENST00000555053.1_Missense_Mutation_p.E155K|ACIN1_ENST00000605057.1_Missense_Mutation_p.E97K|ACIN1_ENST00000457657.1_Missense_Mutation_p.E155K NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 155 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TCTCGAGCTTCACGTTCCAGA 0.453000 8 24 0 0 0.003080 0 0 MMP9 4318 broad.mit.edu 37 20 44642382 44642382 + Missense_Mutation SNP A A G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr20:44642382A>G ENST00000372330.3 + 10 1716 c.1697A>G c.(1696-1698)aAg>aGg p.K566R RP11-465L10.10_ENST00000535913.1_RNA NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 566 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) CTGCCCCGCAAGCTGGACTCG 0.612000 OREG0025990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 21 0 0 0.001984 0 0 COG4 25839 broad.mit.edu 37 16 70557413 70557413 + Missense_Mutation SNP G G C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr16:70557413G>C ENST00000323786.5 - 1 55 c.34C>G c.(34-36)Ccg>Gcg p.P12A COG4_ENST00000393612.4_Missense_Mutation_p.P8A|COG4_ENST00000564653.1_Missense_Mutation_p.P12A NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 8 Interacts with SCFD1. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) GACAGCTTCGGAGGCGAATCA 0.647000 14 56 0 0 0.020292 0 0 MTM1 4534 broad.mit.edu 37 X 149818252 149818252 + Missense_Mutation SNP A A G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chrX:149818252A>G ENST00000370396.2 + 10 985 c.931A>G c.(931-933)Att>Gtt p.I311V MTM1_ENST00000543350.1_Missense_Mutation_p.I196V|MTM1_ENST00000413012.2_Missense_Mutation_p.I274V|MTM1_ENST00000542741.1_Missense_Mutation_p.I216V|MTM1_ENST00000306167.7_3'UTR NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 311 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) CTTCTTAGACATTCATAATAT 0.348000 4 48 0 0 0.014758 0 0 RIMBP2 23504 broad.mit.edu 37 12 130963540 130963540 + Translation_Start_Site SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr12:130963540G>A ENST00000536002.1 - 0 429 RIMBP2_ENST00000261655.4_Missense_Mutation_p.R7W|RIMBP2_ENST00000535703.1_De_novo_Start_OutOfFrame O15034 RIMB2_HUMAN RIMS binding protein 2 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGCTGCCGCCGTTCAGCCGCC 0.627000 18 39 0 0 0.007413 0 0 NUP214 8021 broad.mit.edu 37 9 134027193 134027193 + Missense_Mutation SNP G G C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr9:134027193G>C ENST00000359428.5 + 17 2492 c.2348G>C c.(2347-2349)aGa>aCa p.R783T RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.R784T|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.R773T P35658 NU214_HUMAN nucleoporin 214kDa 783 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GAGGAAGCCAGAGAACAAAAT 0.403000 T """DEK, SET, ABL1""" """AML, T-ALL""" 17 51 0 0 0.004990 0 0 GALR2 8811 broad.mit.edu 37 17 74071075 74071075 + Silent SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr17:74071075C>T ENST00000329003.3 + 1 201 c.111C>T c.(109-111)ctC>ctT p.L37L NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 37 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 TCATCTTCCTCGTGGGCACCG 0.726000 4 11 0 0 0.014758 0 0 CPD 1362 broad.mit.edu 37 17 28706484 28706484 + Silent SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr17:28706484C>T ENST00000225719.4 + 1 562 c.486C>T c.(484-486)cgC>cgT p.R162R NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 162 Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 GCTACCGCCGCGGGGACCCGC 0.701000 7 17 0 0 0.003080 0 0 SDF2 6388 broad.mit.edu 37 17 26976037 26976037 + Missense_Mutation SNP C C A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr17:26976037C>A ENST00000247020.4 - 3 904 c.606G>T c.(604-606)ttG>ttT p.L202F SDF2_ENST00000592250.1_5'UTR NM_006923.3 NP_008854.2 Q99470 SDF2_HUMAN stromal cell-derived factor 2 202 protein glycosylation extracellular space|membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 Lung NSC(42;0.00431) CTTCTGCCTTCAACAACTCAC 0.512000 16 47 1.67942e-08 3.87369e-08 0.006122 1 0 GATA6 2627 broad.mit.edu 37 18 19762738 19762738 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr18:19762738G>A ENST00000269216.3 + 5 1726 c.1449G>A c.(1447-1449)atG>atA p.M483I GATA6_ENST00000581694.1_Missense_Mutation_p.M483I NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 483 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.M483I(1) NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) CACTTGCTATGAAAAAAGAGG 0.328000 7 26 0 0 0.008291 0 0 SLC9A5 6553 broad.mit.edu 37 16 67286737 67286737 + Silent SNP T T G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr16:67286737T>G ENST00000299798.11 + 2 545 c.480T>G c.(478-480)gcT>gcG p.A160A SLC9A5_ENST00000561472.2_Intron NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 160 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) TGCAGCAGGCTGGACTTGTAG 0.582000 4 28 0 0 0.009096 0 0 SND1 27044 broad.mit.edu 37 7 127569277 127569277 + Nonsense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr7:127569277C>T ENST00000354725.3 + 15 1758 c.1564C>T c.(1564-1566)Cag>Tag p.Q522* NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 522 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 GCCTTTTCTTCAGCGGGCAGG 0.423000 22 47 0 0 0.014323 0 0 TP53 7157 broad.mit.edu 37 17 7578195 7578195 + Silent SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr17:7578195C>T ENST00000420246.2 - 6 786 c.654G>A c.(652-654)gtG>gtA p.V218V TP53_ENST00000455263.2_Silent_p.V218V|TP53_ENST00000269305.4_Silent_p.V218V|TP53_ENST00000413465.2_Silent_p.V218V|TP53_ENST00000445888.2_Silent_p.V218V|TP53_ENST00000359597.4_Silent_p.V218V|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 218 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(11)|p.0?(8)|p.V218del(5)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.T211fs*28(1)|p.V218_P219insX(1)|p.V218V(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCTCATAGGGCACCACCACAC 0.547000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 3 16 0 0 0.009096 0 0 ITPK1 3705 broad.mit.edu 37 14 93428702 93428702 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr14:93428702C>T ENST00000267615.6 - 7 675 c.502G>A c.(502-504)Gag>Aag p.E168K ITPK1_ENST00000556603.2_Missense_Mutation_p.E168K|ITPK1_ENST00000354313.3_Missense_Mutation_p.E168K|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000555495.1_Missense_Mutation_p.E49K Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase 168 ATP-grasp. blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) CCACTCACCTCGTGAGAGTTG 0.537000 6 14 0 0 0.001984 0 0 CACNG7 59284 broad.mit.edu 37 19 54417759 54417759 + Missense_Mutation SNP G G C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr19:54417759G>C ENST00000391767.1 + 3 414 c.202G>C c.(202-204)Gag>Cag p.E68Q CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.E68Q|CACNG7_ENST00000391766.1_Missense_Mutation_p.E68Q P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 68 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) CCCAGGTCGGGAGAAAGGTCG 0.557000 5 19 0 0 0.001168 0 0 SLC19A1 6573 broad.mit.edu 37 21 46951372 46951372 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr21:46951372C>T ENST00000311124.4 - 3 1032 c.880G>A c.(880-882)Gag>Aag p.E294K SLC19A1_ENST00000567670.1_Missense_Mutation_p.E294K|SLC19A1_ENST00000485649.2_Missense_Mutation_p.E254K|SLC19A1_ENST00000380010.4_Missense_Mutation_p.E294K NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 294 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GGGTCCACCTCGTTCCACAGG 0.662000 28 56 0 0 0.005443 0 0 HECTD4 283450 broad.mit.edu 37 12 112638499 112638499 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr12:112638499C>T ENST00000550722.1 - 55 8467 c.8072G>A c.(8071-8073)cGa>cAa p.R2691Q HECTD4_ENST00000430131.2_Missense_Mutation_p.R2415Q|HECTD4_ENST00000377560.5_Missense_Mutation_p.R2665Q NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GGCAGTCCTTCGGTAGCCTGC 0.512000 10 43 0 0 0.006214 0 0 LRRK2 120892 broad.mit.edu 37 12 40619404 40619404 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr12:40619404G>A ENST00000298910.7 + 2 257 c.199G>A c.(199-201)Gtc>Atc p.V67I LRRK2_ENST00000343742.2_Missense_Mutation_p.V67I NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 67 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCTGTTGATCGTCTTGGACTC 0.458000 12 24 0 0 0.016723 0 0 NARG2 79664 broad.mit.edu 37 15 60741808 60741808 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr15:60741808G>A ENST00000261520.4 - 10 1592 c.1358C>T c.(1357-1359)tCt>tTt p.S453F NARG2_ENST00000439632.1_Missense_Mutation_p.S316F NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 453 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TAAACTTCTAGAATTAGCAGA 0.443000 17 47 0 0 0.006122 0 0 PCNXL4 64430 broad.mit.edu 37 14 60591773 60591773 + Missense_Mutation SNP G G T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr14:60591773G>T ENST00000406854.1 + 9 3438 c.2884G>T c.(2884-2886)Gcc>Tcc p.A962S PCNXL4_ENST00000404681.2_Missense_Mutation_p.A962S|PCNXL4_ENST00000317623.4_Missense_Mutation_p.A728S|PCNXL4_ENST00000535349.1_Missense_Mutation_p.A169S|PCNXL4_ENST00000406949.1_Missense_Mutation_p.A728S pecanex-like 4 (Drosophila) GGAAGAAATTGCCAAGGACAA 0.353000 13 36 0.00010058 0.000211888 0.013537 1 0 TTN 7273 broad.mit.edu 37 2 179463516 179463516 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr2:179463516G>A ENST00000589042.1 - 291 57145 c.56921C>T c.(56920-56922)gCa>gTa p.A18974V TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A10101V|TTN_ENST00000591111.1_Missense_Mutation_p.A17333V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A16406V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10034V|TTN_ENST00000460472.2_Missense_Mutation_p.A9909V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17333 Fibronectin type-III 37. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGCAGACTTGCTGGACCCAC 0.433000 22 140 0 0 0.014323 0 0 DACH1 1602 broad.mit.edu 37 13 72147054 72147054 + Missense_Mutation SNP T T A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr13:72147054T>A ENST00000305425.4 - 4 1645 c.1223A>T c.(1222-1224)aAc>aTc p.N408I DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.N460I|DACH1_ENST00000354591.4_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 458 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GCTGAGGTGGTTCATCTGGCT 0.443000 7 45 0 0 0.001984 0 0 ZNF707 286075 broad.mit.edu 37 8 144776541 144776541 + Silent SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr8:144776541C>T ENST00000532205.1 + 8 1856 c.957C>T c.(955-957)gcC>gcT p.A319A ZNF707_ENST00000532158.1_Silent_p.A319A|ZNF707_ENST00000358656.4_Silent_p.A319A|ZNF707_ENST00000454097.1_Silent_p.A319A|ZNF707_ENST00000418203.2_Silent_p.A319A Q96C28 ZN707_HUMAN zinc finger protein 707 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) ACACCTGTGCCGAGTGCGGCA 0.642000 6 17 0 0 0.001168 0 0 SNX30 401548 broad.mit.edu 37 9 115600832 115600832 + Missense_Mutation SNP T T G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr9:115600832T>G ENST00000374232.3 + 6 1033 c.869T>G c.(868-870)tTg>tGg p.L290W NM_001012994.1 NP_001013012.1 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 290 cell communication|protein transport cytoplasm phosphatidylinositol binding large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 TGGAGCGCCTTGGAGGGTGAG 0.512000 20 46 0 0 0.010504 0 0 CCT6B 10693 broad.mit.edu 37 17 33266325 33266325 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr17:33266325C>T ENST00000314144.5 - 10 1205 c.1090G>A c.(1090-1092)Gag>Aag p.E364K CCT6B_ENST00000436961.3_Missense_Mutation_p.E319K|CCT6B_ENST00000421975.3_Missense_Mutation_p.E327K NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 364 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) ACACACTCCTCAATAAAAGTG 0.343000 16 66 0 0 0.004007 0 0 SMAD4 4089 broad.mit.edu 37 18 48591925 48591925 + Missense_Mutation SNP G G C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr18:48591925G>C ENST00000342988.3 + 9 1626 c.1088G>C c.(1087-1089)tGt>tCt p.C363S SMAD4_ENST00000588745.1_Missense_Mutation_p.C267S|SMAD4_ENST00000398417.2_Missense_Mutation_p.C363S NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 363 MH2. 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) 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) GATCGCTTTTGTTTGGGTCAA 0.418000 20 36 0 0 0.012319 0 0 BCAR3 8412 broad.mit.edu 37 1 94140409 94140409 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr1:94140409G>A ENST00000370244.1 - 4 366 c.78C>T c.(76-78)gaC>gaT p.D26D BCAR3_ENST00000260502.6_Silent_p.D26D|BCAR3_ENST00000370243.1_Silent_p.D26D NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 26 response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) TGCTCAGAAGGTCCATGGATG 0.522000 10 28 0 0 0.008291 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 4 8 0 0 0.014758 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281696 71281696 + Nonsense_Mutation SNP G G C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr17:71281696G>C ENST00000335793.3 - 2 1338 c.944C>G c.(943-945)tCa>tGa p.S315* CDC42EP4_ENST00000581014.1_Silent_p.L47L|CDC42EP4_ENST00000439510.2_Nonsense_Mutation_p.S245* Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 315 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) CAGGATGCCTGAGGTGCAGCT 0.687000 12 51 0 0 0.013537 0 0 HRH3 11255 broad.mit.edu 37 20 60791706 60791706 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr20:60791706G>A ENST00000340177.5 - 3 978 c.694C>T c.(694-696)Cgg>Tgg p.R232W HRH3_ENST00000317393.6_Missense_Mutation_p.R232W NM_007232.2 NP_009163.2 Q9Y5N1 HRH3_HUMAN histamine receptor H3 232 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) CCATCCAGCCGGAGGCGGGTG 0.672000 8 18 0 0 0.016723 0 0 STAB1 23166 broad.mit.edu 37 3 52549520 52549520 + Nonsense_Mutation SNP C C T rs5848954 TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr3:52549520C>T ENST00000321725.6 + 37 4022 c.3946C>T c.(3946-3948)Cag>Tag p.Q1316* NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1316 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 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) CAAGAAGATCCAGGTTTGCCC 0.597000 7 25 0 0 0.003080 0 0 CDH17 1015 broad.mit.edu 37 8 95201434 95201434 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr8:95201434G>A ENST00000027335.3 - 3 255 c.131C>T c.(130-132)cCg>cTg p.P44L CDH17_ENST00000441892.2_Missense_Mutation_p.P44L|CDH17_ENST00000450165.2_Missense_Mutation_p.P44L NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 44 Cadherin 1. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) AATTTGACTCGGTTCTTGGCC 0.393000 8 33 0 0 0.003080 0 0 NUDT11 55190 broad.mit.edu 37 X 51239169 51239169 + Missense_Mutation SNP T T C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chrX:51239169T>C ENST00000375992.3 - 1 279 c.128A>G c.(127-129)gAc>gGc p.D43G NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 43 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) GATCCAGCGGTCCGGGTACCG 0.677000 HNSCC(48;0.14) 6 4 0 0 0.001984 0 0 KMT2D 8085 broad.mit.edu 37 12 49448705 49448705 + Nonsense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr12:49448705G>A ENST00000301067.7 - 2 153 c.154C>T c.(154-156)Cag>Tag p.Q52* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGAGTCTCCTGAAGCCTGGGA 0.527000 28 92 0 0 0.007291 0 0 IGHV3-35 28432 broad.mit.edu 37 14 106845557 106845557 + RNA SNP G G T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr14:106845557G>T ENST00000390617.2 - 0 131 CTGCACAGGAGAGTCTCAGGG 0.567000 41 139 2.54651e-27 6.38648e-27 0.006999 1 0 CHST15 51363 broad.mit.edu 37 10 125769694 125769694 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr10:125769694C>T ENST00000346248.5 - 8 2299 c.1657G>A c.(1657-1659)Gat>Aat p.D553N CHST15_ENST00000435907.1_Missense_Mutation_p.D553N NM_015892.4 NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 553 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 AACGCCTCATCCGCGAGGACC 0.577000 7 35 0 0 0.001984 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18435432 18435432 + Silent SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr12:18435432C>T ENST00000433979.1 + 2 533 c.417C>T c.(415-417)tcC>tcT p.S139S PIK3C2G_ENST00000538779.1_Silent_p.S139S|PIK3C2G_ENST00000535651.1_Silent_p.S139S|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Silent_p.S139S NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 139 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CTGATGATTCCAGATTCAGTA 0.338000 11 53 0 0 0.008291 0 0 GSTA2 2939 broad.mit.edu 37 6 52622666 52622666 + Missense_Mutation SNP C C G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr6:52622666C>G ENST00000493422.1 - 2 235 c.80G>C c.(79-81)gGa>gCa p.G27A NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 27 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) TACCTCTACTCCAGCTGCAGC 0.478000 39 82 0 0 0.007835 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606354 1606354 + Nonsense_Mutation SNP G G T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr11:1606354G>T ENST00000382171.2 - 1 159 c.126C>A c.(124-126)tgC>tgA p.C42* KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 42 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CGGGCACACAGCAGCTGGAGC 0.682000 31 221 1.55811e-20 3.84658e-20 0.008361 1 0 AASDH 132949 broad.mit.edu 37 4 57204807 57204807 + Missense_Mutation SNP C C A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr4:57204807C>A ENST00000205214.6 - 15 3238 c.3058G>T c.(3058-3060)Gtc>Ttc p.V1020F AASDH_ENST00000434343.2_Missense_Mutation_p.V535F|AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.V920F|AASDH_ENST00000602986.1_3'UTR NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 1020 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) GTTGCATAGACCCTTGAAGTA 0.403000 16 51 1.45105e-14 3.47373e-14 0.006122 1 0 AHNAK 79026 broad.mit.edu 37 11 62284897 62284897 + Silent SNP G G T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr11:62284897G>T ENST00000378024.4 - 5 17266 c.16992C>A c.(16990-16992)ccC>ccA p.P5664P AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5664 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGGTAAATTTGGGGATCTTCA 0.522000 21 100 1.00905e-13 2.39744e-13 0.008871 1 0 USP25 29761 broad.mit.edu 37 21 17198660 17198660 + Missense_Mutation SNP C C A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr21:17198660C>A ENST00000285681.2 + 13 1811 c.1442C>A c.(1441-1443)tCc>tAc p.S481Y USP25_ENST00000400183.2_Missense_Mutation_p.S481Y|USP25_ENST00000285679.6_Missense_Mutation_p.S481Y|USP25_ENST00000351097.5_Intron NM_001283042.1 NP_001269971.1 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 481 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2) 52 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) CCTAGTGGTTCCATACCATCA 0.398000 22 61 1.1804e-14 2.84737e-14 0.021523 1 0 KIF3B 9371 broad.mit.edu 37 20 30919067 30919067 + Nonsense_Mutation SNP C C G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr20:30919067C>G ENST00000375712.3 + 9 2356 c.2189C>G c.(2188-2190)tCa>tGa p.S730* KIF3B_ENST00000418717.2_Nonsense_Mutation_p.S356* NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 730 Globular.|Poly-Ser. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCCTCTTCCTCAGGAACCCCT 0.507000 14 39 0 0 0.003163 0 0 UPF2 26019 broad.mit.edu 37 10 11990496 11990496 + Missense_Mutation SNP C C T rs3957628 TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr10:11990496C>T ENST00000356352.2 - 15 3519 c.3046G>A c.(3046-3048)Gac>Aac p.D1016N UPF2_ENST00000397053.2_Missense_Mutation_p.D1016N|UPF2_ENST00000357604.5_Missense_Mutation_p.D1016N Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1016 Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) GAGTCTTTGTCATTTACTAGG 0.353000 15 45 0 0 0.003163 0 0 TP73 7161 broad.mit.edu 37 1 3645962 3645962 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr1:3645962G>A ENST00000378295.4 + 10 1301 c.1146G>A c.(1144-1146)ccG>ccA p.P382P TP73_ENST00000354437.4_Silent_p.P382P|TP73_ENST00000604074.1_Silent_p.P382P|TP73_ENST00000378285.1_Silent_p.P333P|TP73_ENST00000604479.1_Silent_p.P382P|TP73_ENST00000378290.4_Silent_p.P311P|TP73_ENST00000378288.4_Silent_p.P333P|TP73_ENST00000603362.1_Silent_p.P382P|TP73_ENST00000346387.4_Silent_p.P382P|TP73_ENST00000357733.3_Silent_p.P382P|TP73_ENST00000378280.1_Silent_p.P333P NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 382 Oligomerization (Potential). cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) AGTTGGTGCCGCAGCCACTGG 0.592000 4 59 0 0 0.009096 0 0 ZNF536 9745 broad.mit.edu 37 19 31039856 31039856 + Missense_Mutation SNP C C A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr19:31039856C>A ENST00000355537.3 + 4 3477 c.3330C>A c.(3328-3330)gaC>gaA p.D1110E NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1110 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TCCCATCAGACTTCTACAAGC 0.562000 15 37 3.27435e-08 7.44385e-08 0.020292 1 0 PSMD11 5717 broad.mit.edu 37 17 30796143 30796143 + Missense_Mutation SNP C C G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr17:30796143C>G ENST00000261712.3 + 6 838 c.575C>G c.(574-576)tCt>tGt p.S192C PSMD11_ENST00000457654.2_Missense_Mutation_p.S192C NM_001270482.1|NM_002815.3 NP_001257411.1|NP_002806.2 O00231 PSD11_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 192 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 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) GCCTTAACTTCTGCTCGAACC 0.498000 9 35 0 0 0.004482 0 0 TPTE 7179 broad.mit.edu 37 21 10910343 10910343 + Silent SNP A A T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr21:10910343A>T ENST00000298232.7 - 21 1726 c.1359T>A c.(1357-1359)ccT>ccA p.P453P TPTE_ENST00000342420.5_Silent_p.P433P|TPTE_ENST00000361285.4_Silent_p.P471P|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 471 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) CATCATACAGAGGTAGACCGT 0.338000 11 76 0 0 0.016723 0 0 HKDC1 80201 broad.mit.edu 37 10 71008449 71008449 + Missense_Mutation SNP T T G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr10:71008449T>G ENST00000354624.5 + 10 1668 c.1535T>G c.(1534-1536)cTg>cGg p.L512R HKDC1_ENST00000395086.2_Missense_Mutation_p.L512R|HKDC1_ENST00000488706.1_3'UTR NM_025130.3 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 512 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GTCAGGATGCTGCCCACCTAC 0.642000 8 23 0 0 0.003080 0 0 SCN10A 6336 broad.mit.edu 37 3 38835307 38835307 + Silent SNP C C T rs138298994 TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr3:38835307C>T ENST00000449082.2 - 1 194 c.195G>A c.(193-195)aaG>aaA p.K65K NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 65 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CACCATAGAACTTGGGCAGCT 0.542000 16 113 0 0 0.004007 0 0 SNRNP70 6625 broad.mit.edu 37 19 49589800 49589800 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr19:49589800G>A ENST00000221448.5 + 2 325 c.129G>A c.(127-129)ccG>ccA p.P43P SNRNP70_ENST00000598441.1_Silent_p.P43P NM_003089.4 NP_003080.2 P08621 RU17_HUMAN small nuclear ribonucleoprotein 70kDa (U1) 43 nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 12 GCATTGCGCCGTACATTCGAG 0.532000 6 263 0 0 0.001168 0 0 SLC7A4 6545 broad.mit.edu 37 22 21385718 21385718 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr22:21385718G>A ENST00000382932.2 - 2 451 c.384C>T c.(382-384)atC>atT p.I128I SLC7A4_ENST00000403586.1_Silent_p.I128I|AC002472.11_ENST00000450652.1_RNA NM_004173.2 NP_004164.2 O43246 CTR4_HUMAN solute carrier family 7, member 4 128 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CGGCGCCACCGATGATGTATT 0.607000 6 16 0 0 0.003080 0 0 OPCML 4978 broad.mit.edu 37 11 132399055 132399055 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr11:132399055G>A ENST00000331898.7 - 3 1004 c.426C>T c.(424-426)tcC>tcT p.S142S OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.S142S|OPCML_ENST00000524381.1_Silent_p.S135S|OPCML_ENST00000374778.4_Silent_p.S101S NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 142 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TGATGTCTGAGGAGATATTCA 0.443000 11 30 0 0 0.008291 0 0 GGT6 124975 broad.mit.edu 37 17 4461929 4461929 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr17:4461929G>A ENST00000301395.3 - 3 826 c.767C>T c.(766-768)tCg>tTg p.S256L GGT6_ENST00000574154.1_Missense_Mutation_p.S288L|GGT6_ENST00000573591.1_Missense_Mutation_p.S140L|GGT6_ENST00000381550.3_Missense_Mutation_p.S294L NM_153338.2 NP_699169.2 Q6P531 GGT6_HUMAN gamma-glutamyltransferase 6 288 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GGGCACAGCCGAGGGCACCTC 0.657000 5 8 0 0 0.014758 0 0 ZNF623 9831 broad.mit.edu 37 8 144732572 144732572 + Missense_Mutation SNP G G C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr8:144732572G>C ENST00000501748.2 + 1 619 c.530G>C c.(529-531)aGa>aCa p.R177T ZNF623_ENST00000526926.1_Missense_Mutation_p.R137T|ZNF623_ENST00000458270.2_Missense_Mutation_p.R137T NM_014789.3 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) ACTGGAGAGAGACTCTACGTC 0.488000 15 31 0 0 0.003163 0 0 COL6A3 1293 broad.mit.edu 37 2 238289917 238289917 + Missense_Mutation SNP C C T rs139498556 byFrequency TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr2:238289917C>T ENST00000295550.4 - 5 1990 c.1538G>A c.(1537-1539)cGg>cAg p.R513Q COL6A3_ENST00000409809.1_Missense_Mutation_p.R307Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R513Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.R307Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R106Q|COL6A3_ENST00000392003.2_Missense_Mutation_p.R106Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.R307Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.R312Q NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 513 Nonhelical region.|VWFA 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTTCATTTTCCGCACAGCGGT 0.527000 47 68 0 0 0.014410 0 0 BEND4 389206 broad.mit.edu 37 4 42145753 42145753 + Missense_Mutation SNP A A C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr4:42145753A>C ENST00000502486.1 - 3 1325 c.746T>G c.(745-747)tTc>tGc p.F249C BEND4_ENST00000504360.1_Missense_Mutation_p.F245C NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 249 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 AGAGTCAGTGAAAACCCTCAA 0.478000 5 15 0 0 0.014758 0 0 OLIG2 10215 broad.mit.edu 37 21 34399432 34399432 + Missense_Mutation SNP T T G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr21:34399432T>G ENST00000333337.3 + 1 1190 c.262T>G c.(262-264)Tcg>Gcg p.S88A OLIG2_ENST00000382357.3_Missense_Mutation_p.S88A|AP000282.2_ENST00000454622.1_RNA|AP000282.2_ENST00000420356.1_RNA Q13516 OLIG2_HUMAN oligodendrocyte lineage transcription factor 2 88 Poly-Ser. cytoplasm|nucleus|plasma membrane DNA binding breast(1)|central_nervous_system(2) 3 GTCTACGTCGTCGGCGGCTGC 0.632000 T TRA@ T-ALL 3 13 0 0 0.004672 0 0 GOLGB1 2804 broad.mit.edu 37 3 121435721 121435721 + Missense_Mutation SNP G G C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr3:121435721G>C ENST00000393667.3 - 9 1261 c.1151C>G c.(1150-1152)tCt>tGt p.S384C GOLGB1_ENST00000340645.5_Missense_Mutation_p.S379C NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 379 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CAAAATATGAGAGGTCTTCTC 0.438000 16 46 0 0 0.003163 0 0 DMXL1 1657 broad.mit.edu 37 5 118506822 118506822 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr5:118506822G>A ENST00000311085.8 + 24 6416 c.6336G>A c.(6334-6336)ctG>ctA p.L2112L DMXL1_ENST00000539542.1_Silent_p.L2112L NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2112 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TGAAACAACTGAGAGAAAATT 0.383000 19 55 0 0 0.012319 0 0 PAQR3 152559 broad.mit.edu 37 4 79856301 79856301 + Missense_Mutation SNP A A G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr4:79856301A>G ENST00000512733.1 - 2 535 c.322T>C c.(322-324)Tgt>Cgt p.C108R PAQR3_ENST00000380645.4_Missense_Mutation_p.C108R|PAQR3_ENST00000295462.3_Intron NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 108 Golgi membrane|integral to membrane receptor activity breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 CAAATAGAACAAATTACAAAA 0.408000 42 131 0 0 0.009718 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99325666 99325666 + Nonsense_Mutation SNP G G T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr4:99325666G>T ENST00000408927.3 + 7 789 c.676G>T c.(676-678)Gaa>Taa p.E226* RAP1GDS1_ENST00000380158.4_Nonsense_Mutation_p.E178*|RAP1GDS1_ENST00000339360.5_Nonsense_Mutation_p.E227*|RAP1GDS1_ENST00000264572.7_Nonsense_Mutation_p.E135*|RAP1GDS1_ENST00000408900.3_Nonsense_Mutation_p.E177*|RAP1GDS1_ENST00000453712.2_Nonsense_Mutation_p.E227* NM_001100426.1|NM_001100427.1|NM_021159.4 NP_001093896.1|NP_001093897.1|NP_066982.3 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 226 binding|GTPase activator activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1) 28 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) AAACATTGCTGAAGAGCTAGT 0.303000 T NUP98 T-ALL 16 48 1.3612e-06 2.96648e-06 0.003163 1 0 SFMBT1 51460 broad.mit.edu 37 3 52941649 52941649 + Silent SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr3:52941649C>T ENST00000394752.3 - 18 2389 c.2007G>A c.(2005-2007)aaG>aaA p.K669K SFMBT1_ENST00000358080.2_Silent_p.K669K|SFMBT1_ENST00000394750.1_Silent_p.K669K|SFMBT1_ENST00000296295.6_Silent_p.K669K NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 669 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) TTTTCCGCCTCTTTCTCCTCT 0.448000 10 68 0 0 0.010729 0 0 AOC2 314 broad.mit.edu 37 17 40997326 40997326 + Nonsense_Mutation SNP C C G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr17:40997326C>G ENST00000253799.3 + 1 710 c.683C>G c.(682-684)tCa>tGa p.S228* AOC2_ENST00000452774.2_Nonsense_Mutation_p.S228* NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 228 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) CATAACATCTCAGGGGTTGGT 0.602000 27 68 0 0 0.004656 0 0 ZNF99 7652 broad.mit.edu 37 19 22941631 22941631 + Missense_Mutation SNP C C A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr19:22941631C>A ENST00000397104.3 - 5 806 c.807G>T c.(805-807)gaG>gaT p.E269D ZNF99_ENST00000596209.1_Missense_Mutation_p.E360D zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TATGAATTATCTCATGTTTTC 0.368000 13 49 2.27111e-07 5.05402e-07 0.013537 1 0 ARL4A 10124 broad.mit.edu 37 7 12728394 12728394 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr7:12728394G>A ENST00000396663.1 + 2 997 c.515G>A c.(514-516)gGa>gAa p.G172E ARL4A_ENST00000356797.3_Missense_Mutation_p.G172E|ARL4A_ENST00000396662.1_Missense_Mutation_p.G172E|ARL4A_ENST00000404894.1_Missense_Mutation_p.G172E|ARL4A_ENST00000396664.2_Missense_Mutation_p.G172E NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3 NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A 172 small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|protein binding NS(2)|lung(3)|ovary(1) 6 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) GCAATCATAGGAGATGGCCTA 0.378000 18 59 0 0 0.010504 0 0 MRGPRF 116535 broad.mit.edu 37 11 68773592 68773592 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr11:68773592G>A ENST00000309099.6 - 3 568 c.186C>T c.(184-186)aaC>aaT p.N62N MRGPRF_ENST00000441623.1_Silent_p.N62N NM_145015.4 NP_659452.3 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F 62 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|lung(4) 7 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGACCAGCCCGTTGCCCACCA 0.612000 7 25 0 0 0.001984 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188395 70188395 + Silent SNP G G C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr2:70188395G>C ENST00000320256.4 - 1 1002 c.426C>G c.(424-426)ctC>ctG p.L142L NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 142 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 CCTCTCCTCTGAGGGACTCTT 0.547000 8 28 0 0 0.003080 0 0 EPHA5 2044 broad.mit.edu 37 4 66230861 66230861 + Missense_Mutation SNP C C A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr4:66230861C>A ENST00000273854.3 - 12 2710 c.2110G>T c.(2110-2112)Gtg>Ttg p.V704L EPHA5_ENST00000354839.4_Missense_Mutation_p.V682L|EPHA5_ENST00000432638.2_Missense_Mutation_p.V541L|EPHA5_ENST00000511294.1_Missense_Mutation_p.V705L NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 704 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TTGATAGCCACAGGTAATTCT 0.363000 TSP Lung(17;0.13) 22 65 2.89027e-11 6.76537e-11 0.014323 1 0 LNPEP 4012 broad.mit.edu 37 5 96332174 96332174 + Missense_Mutation SNP C C G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr5:96332174C>G ENST00000231368.5 + 7 2180 c.1488C>G c.(1486-1488)ttC>ttG p.F496L LNPEP_ENST00000395770.3_Missense_Mutation_p.F482L NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 496 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TGGAGTATTTCTCTTTGGAAA 0.378000 10 20 0 0 0.010729 0 0 SDF2 6388 broad.mit.edu 37 17 26976066 26976066 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr17:26976066C>T ENST00000247020.4 - 3 875 c.577G>A c.(577-579)Ggc>Agc p.G193S SDF2_ENST00000592250.1_5'UTR NM_006923.3 NP_008854.2 Q99470 SDF2_HUMAN stromal cell-derived factor 2 193 MIR 3. protein glycosylation extracellular space|membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 Lung NSC(42;0.00431) ATGAAGATGCCTTCCATGGCT 0.502000 16 58 0 0 0.003163 0 0 HLA-DRB6 3128 broad.mit.edu 37 6 32522722 32522722 + RNA SNP C C A rs114905475 by1000genomes TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr6:32522722C>A ENST00000411500.1 - 0 484 NR_001298.1 TGGGTCTTTGCAGGATACACA 0.488000 6 21 3.59834e-05 7.63137e-05 0.001168 1 0 LRP8 7804 broad.mit.edu 37 1 53728130 53728130 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr1:53728130C>T ENST00000306052.6 - 11 1863 c.1762G>A c.(1762-1764)Gga>Aga p.G588R LRP8_ENST00000465675.1_Missense_Mutation_p.G141R|LRP8_ENST00000354412.3_Missense_Mutation_p.G459R|LRP8_ENST00000347547.2_Missense_Mutation_p.G418R|LRP8_ENST00000371454.2_Missense_Mutation_p.G588R|LRP8_ENST00000460214.1_5'UTR NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 588 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 AGGGTGATTCCGTTGGGCCAT 0.542000 16 147 0 0 0.004990 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858209 9858209 + Silent SNP C C A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr16:9858209C>A ENST00000396573.2 - 14 3501 c.3192G>T c.(3190-3192)acG>acT p.T1064T GRIN2A_ENST00000330684.3_Silent_p.T1064T|GRIN2A_ENST00000404927.2_Silent_p.T1064T|GRIN2A_ENST00000562109.1_Silent_p.T1064T|GRIN2A_ENST00000535259.1_Silent_p.T907T|GRIN2A_ENST00000396575.2_Silent_p.T1064T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1064 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.T1064T(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCCGATTTGACGTTTCTGAAA 0.502000 33 61 3.67414e-24 9.14196e-24 0.012213 1 0 THBS1 7057 broad.mit.edu 37 15 39885392 39885392 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr15:39885392G>A ENST00000260356.5 + 18 3124 c.2959G>A c.(2959-2961)Gtc>Atc p.V987I NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 987 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TAAAGAACTCGTCCAGACTGT 0.473000 7 45 0 0 0.003080 0 0 BCL9L 283149 broad.mit.edu 37 11 118772231 118772231 + Nonsense_Mutation SNP C C A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr11:118772231C>A ENST00000334801.3 - 6 3185 c.2221G>T c.(2221-2223)Gag>Tag p.E741* BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 741 Met-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CCACCAAACTCCATGCCCATG 0.652000 33 100 4.65686e-17 1.14075e-16 0.017118 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 70 0 0 0.009096 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 4 51 0 0 0.009096 0 0 ABO 28 broad.mit.edu 37 9 136131579 136131579 + RNA SNP C C T rs56258249 TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr9:136131579C>T ENST00000453660.2 - 0 549 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) GTCCTGCCAGCGCTTGTAGGC 0.657000 3 18 0 0 0.004672 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 3 17 0 0 0.004672 0 0 FLG 2312 broad.mit.edu 37 1 152286728 152286728 + Missense_Mutation SNP C C G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr1:152286728C>G ENST00000368799.1 - 3 669 c.634G>C c.(634-636)Gaa>Caa p.E212Q FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 212 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) TATACTCCTTCTTCATTGTCT 0.338000 Ichthyosis 32 41 0 0 0.019004 0 0 XPO1 7514 broad.mit.edu 37 2 61721203 61721203 + Silent SNP T T A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr2:61721203T>A ENST00000401558.2 - 12 1798 c.1071A>T c.(1069-1071)gtA>gtT p.V357V XPO1_ENST00000404992.2_Silent_p.V357V|XPO1_ENST00000406957.1_Silent_p.V357V NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 (CRM1 homolog, yeast) 357 Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) CTACTTCAGATACCAACAACA 0.338000 Mis CLL 10 72 0 0 0.008291 0 0 LRRC59 55379 broad.mit.edu 37 17 48462537 48462537 + Silent SNP G G C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr17:48462537G>C ENST00000225972.7 - 6 853 c.618C>G c.(616-618)ctC>ctG p.L206L NM_018509.3 NP_060979.2 Q96AG4 LRC59_HUMAN leucine rich repeat containing 59 206 endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) TGGCTGCTTTGAGGGCATCAT 0.552000 35 101 0 0 0.013726 0 0 OPCML 4978 broad.mit.edu 37 11 132399057 132399057 + Missense_Mutation SNP A A G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr11:132399057A>G ENST00000331898.7 - 3 1002 c.424T>C c.(424-426)Tcc>Ccc p.S142P OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.S142P|OPCML_ENST00000524381.1_Missense_Mutation_p.S135P|OPCML_ENST00000374778.4_Missense_Mutation_p.S101P NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 142 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) ATGTCTGAGGAGATATTCATG 0.433000 10 30 0 0 0.006214 0 0 EGF 1950 broad.mit.edu 37 4 110882140 110882140 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr4:110882140G>A ENST00000265171.5 + 7 1629 c.1184G>A c.(1183-1185)tGt>tAt p.C395Y EGF_ENST00000509793.1_Missense_Mutation_p.C353Y|EGF_ENST00000503392.1_Missense_Mutation_p.C395Y NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 395 EGF-like 2; calcium-binding (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GGGAAACGATGTCATCGTAAG 0.398000 14 33 0 0 0.003163 0 0 TRAV5 28688 broad.mit.edu 37 14 22217818 22217818 + RNA SNP A A C TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr14:22217818A>C ENST00000390427.3 + 0 181 ATACTGGTATAAGCAAGAACC 0.433000 6 35 0 0 0.001168 0 0 JADE2 23338 broad.mit.edu 37 5 133902013 133902013 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr5:133902013C>T ENST00000395003.1 + 9 1356 c.1177C>T c.(1177-1179)Cgc>Tgc p.R393C PHF15_ENST00000402835.1_Missense_Mutation_p.R393C|PHF15_ENST00000282605.4_Missense_Mutation_p.R393C|PHF15_ENST00000361895.2_Missense_Mutation_p.R393C NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 393 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGTGACCCTGCGCAAGCAGCG 0.642000 7 44 0 0 0.003080 0 0 THAP9 79725 broad.mit.edu 37 4 83827689 83827689 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr4:83827689G>A ENST00000302236.5 + 3 540 c.489G>A c.(487-489)aaG>aaA p.K163K NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 163 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) GGATGATCAAGAAGAGAAAGG 0.403000 19 63 0 0 0.006122 0 0 ADH7 131 broad.mit.edu 37 4 100336769 100336769 + Missense_Mutation SNP C C G rs144172801 by1000genomes TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr4:100336769C>G ENST00000437033.2 - 8 1469 c.966G>C c.(964-966)ttG>ttC p.L322F ADH7_ENST00000209665.4_Missense_Mutation_p.L334F|ADH7_ENST00000482593.1_Missense_Mutation_p.L265F|ADH7_ENST00000476959.1_Missense_Mutation_p.L342F P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 334 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) CTCTGCTTTTCAAACCTGCAA 0.323000 19 76 0 0 0.007413 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378722 16378722 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr1:16378722C>T ENST00000375679.4 + 15 1549 c.1438C>T c.(1438-1440)Cac>Tac p.H480Y CLCNKB_ENST00000375667.3_Missense_Mutation_p.H311Y 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) GGCTGTGACCCACACCATCTC 0.662000 8 103 0 0 0.003080 0 0 ZNF527 84503 broad.mit.edu 37 19 37880656 37880656 + Missense_Mutation SNP C C G TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr19:37880656C>G ENST00000436120.2 + 5 1812 c.1705C>G c.(1705-1707)Cta>Gta p.L569V ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GATCTTGTCCCTAAGACTACA 0.398000 7 30 0 0 0.001984 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702832 27702832 + Silent SNP G G T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr10:27702832G>T ENST00000438700.3 - 1 465 c.348C>A c.(346-348)acC>acA p.T116T NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 116 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CTAGGCAGTCGGTGTGACAGC 0.692000 13 43 0.000219431 0.000459207 0.020292 1 0 GOLGB1 2804 broad.mit.edu 37 3 121435852 121435852 + Silent SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr3:121435852G>A ENST00000393667.3 - 9 1130 c.1020C>T c.(1018-1020)ttC>ttT p.F340F GOLGB1_ENST00000340645.5_Silent_p.F335F NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 335 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GCAGATTATGGAAGGATAATT 0.428000 20 61 0 0 0.010504 0 0 ZNF385D 79750 broad.mit.edu 37 3 21467133 21467133 + Missense_Mutation SNP G G A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr3:21467133G>A ENST00000281523.2 - 6 1221 c.703C>T c.(703-705)Cgg>Tgg p.R235W NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 235 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 CTTCCATTCCGGGCTTCTAAC 0.453000 6 50 0 0 0.001168 0 0 NTM 50863 broad.mit.edu 37 11 132204947 132204947 + Silent SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr11:132204947C>T ENST00000374786.1 + 7 1421 c.942C>T c.(940-942)ggC>ggT p.G314G NTM_ENST00000474900.1_3'UTR|NTM_ENST00000539799.1_Silent_p.G325G|NTM_ENST00000427481.2_Silent_p.G316G|NTM_ENST00000374791.3_Silent_p.G314G|NTM_ENST00000425719.2_Silent_p.G325G NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 314 cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 CAGGTCCAGGCGCCGTCAGCG 0.592000 31 88 0 0 0.015359 0 0 PDZD7 79955 broad.mit.edu 37 10 102777898 102777898 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr10:102777898C>T ENST00000370215.3 - 9 1705 c.1480G>A c.(1480-1482)Ggg>Agg p.G494R NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 494 cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) GCCAGGCTCCCGCTGTCCAGT 0.592000 13 75 0 0 0.013537 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64718935 64718935 + Nonsense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chrX:64718935C>T ENST00000338957.4 + 3 872 c.805C>T c.(805-807)Cga>Tga p.R269* ZC3H12B_ENST00000423889.3_Nonsense_Mutation_p.R258* NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 258 endonuclease activity|nucleic acid binding|zinc ion binding p.R205R(2)|p.R119R(2) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CACACCATCCCGAAGAGTCCA 0.413000 4 80 0 0 0.009096 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103410592 103410592 + Silent SNP C C A TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr14:103410592C>A ENST00000361246.2 - 30 4332 c.4044G>T c.(4042-4044)gtG>gtT p.V1348V NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1348 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity p.V1348V(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TCAGCCGTTTCACGGCCACAA 0.557000 18 34 3.32936e-07 7.30609e-07 0.006122 1 0 TRBV5-7 28608 broad.mit.edu 37 7 142111637 142111637 + RNA SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr7:142111637C>T ENST00000390378.1 - 0 98 GCTGTCCTCTCGTTTTGATCA 0.557000 23 54 0 0 0.021523 0 0 SHOX2 6474 broad.mit.edu 37 3 157823777 157823777 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr3:157823777C>T ENST00000389589.4 - 1 172 c.37G>A c.(37-39)Gac>Aac p.D13N SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.D13N|SHOX2_ENST00000425436.3_Missense_Mutation_p.D13N|RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000554685.1_5'UTR NM_003030.4 NP_003021.3 O60902 SHOX2_HUMAN short stature homeobox 2 13 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) ACTTTCTGGTCAAAAGACTTG 0.632000 11 37 0 0 0.013537 0 0 LOC100288069 100288069 broad.mit.edu 37 1 700514 700514 + RNA DEL A A - TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr1:700514delA ENST00000428504.1 - 0 1039 NR_033908.1 actccatctcaaaaaaaaaaa 0.453 2 4 --- --- --- --- KLHL2 11275 broad.mit.edu 37 4 166232654 166232654 + Frame_Shift_Del DEL G G - TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr4:166232654delG ENST00000226725.6 + 11 1535 c.1276delG c.(1276-1278)gagfs p.E426fs KLHL2_ENST00000506761.1_Frame_Shift_Del_p.E260fs|KLHL2_ENST00000514860.1_Frame_Shift_Del_p.E430fs|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Frame_Shift_Del_p.E329fs|KLHL2_ENST00000538127.1_Frame_Shift_Del_p.E338fs NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 426 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) AAAGTCTAATGAGTGGTTTCA 0.378 24 62 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187629504 187629505 + Frame_Shift_Del DEL CC CC - TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr4:187629504_187629505delCC ENST00000441802.2 - 2 1686_1687 c.1477_1478delGG c.(1477-1479)ggtfs p.G493fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 493 Cadherin 4. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CCCGTTCTCACCCTCATCAGGG 0.490 HNSCC(5;0.00058) 23 65 --- --- --- --- BASP1 10409 broad.mit.edu 37 5 17275848 17275848 + Frame_Shift_Del DEL G G - TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr5:17275848delG ENST00000322611.3 + 2 783 c.523delG c.(523-525)ggcfs p.G175fs NM_001271606.1|NM_006317.3 NP_001258535.1|NP_006308.3 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 1 175 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding endometrium(1)|lung(8) 9 CTCAAAACCCGGCAGCTCGGA 0.657 10 12 --- --- --- --- CCDC136 64753 broad.mit.edu 37 7 128434467 128434469 + In_Frame_Del DEL GAA GAA - TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr7:128434467_128434469delGAA ENST00000297788.4 + 2 449_451 c.82_84delGAA c.(82-84)gaadel p.E32del CCDC136_ENST00000487361.1_In_Frame_Del_p.E32del|CCDC136_ENST00000378685.4_In_Frame_Del_p.E82del|CCDC136_ENST00000464832.1_In_Frame_Del_p.E82del NM_022742.4 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 32 Glu-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 agaagaggtggaagaagaagaag 0.552 2 4 --- --- --- --- NTMT1 28989 broad.mit.edu 37 9 132397695 132397696 + Frame_Shift_Ins INS - - AA TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr9:132397695_132397696insAA ENST00000372486.1 + 4 973_974 c.624_625insAA c.(625-627)aacfs p.N209fs NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372483.4_Frame_Shift_Ins_p.N209fs|NTMT1_ENST00000372480.1_Frame_Shift_Ins_p.N209fs|NTMT1_ENST00000482347.1_Frame_Shift_Ins_p.N121fs N-terminal Xaa-Pro-Lys N-methyltransferase 1 AGAGGCAGGAGAACCTCCCCGA 0.619 29 93 --- --- --- --- RP11-493L12.5 0 broad.mit.edu 37 12 47761313 47761314 + RNA INS - - T rs57593482 TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr12:47761313_47761314insT ENST00000550019.1 + 0 262 ttcgctctctattttttttttt 0.406 4 7 --- --- --- --- VEZT 55591 broad.mit.edu 37 12 95660159 95660159 + Frame_Shift_Del DEL T T - TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr12:95660159delT ENST00000436874.1 + 5 566 c.461delT c.(460-462)attfs p.I154fs VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Frame_Shift_Del_p.I106fs NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 154 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 TTTGCCTTCATTAGCTTGCTC 0.383 58 239 --- --- --- --- C16orf74 404550 broad.mit.edu 37 16 85743879 85743884 + In_Frame_Del DEL GCTGCT GCTGCT - TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 Untested Somatic Phase_I WXS none Illumina GAIIx 67a8d326-344c-4a6c-809f-cdf487468815 390fd418-00fa-4638-8f13-e8cb1d2d9475 g.chr16:85743879_85743884delGCTGCT ENST00000602583.1 - 1 572_577 c.22_27delAGCAGC c.(22-27)agcagcdel p.SS8del C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000284245.4_In_Frame_Del_p.SS20del|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602719.1_In_Frame_Del_p.SS20del Q96GX8 CP074_HUMAN chromosome 16 open reading frame 74 20 CCTCGTCGTGGCTGCTGCTGCTGCTG 0.636 3 5 --- --- --- ---