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 STAB2 55576 broad.mit.edu 37 12 104048409 104048409 + Missense_Mutation SNP A A G TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr12:104048409A>G ENST00000388887.2 + 13 1688 c.1484A>G c.(1483-1485)aAt>aGt p.N495S NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 495 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ATTGCTTCCAATGGGCTTCTG 0.393000 32 44 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5173454 5173454 + Missense_Mutation SNP C C T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr11:5173454C>T ENST00000380367.1 - 2 563 c.146G>A c.(145-147)aGc>aAc p.S49N OR52A1_ENST00000328942.1_Missense_Mutation_p.S49N Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 49 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTGATGATGCTCAGAAGCAA 0.463000 26 40 0 0 1 0 0 NMNAT1 64802 broad.mit.edu 37 1 10032159 10032159 + Missense_Mutation SNP G G C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr1:10032159G>C ENST00000377205.1 + 2 172 c.28G>C c.(28-30)Gtt>Ctt p.V10L NMNAT1_ENST00000492735.1_3'UTR|NMNAT1_ENST00000403197.1_Missense_Mutation_p.V10L NM_022787.3 NP_073624.2 Q9HAN9 NMNA1_HUMAN nicotinamide nucleotide adenylyltransferase 1 10 water-soluble vitamin metabolic process nucleoplasm ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding large_intestine(2)|lung(2)|stomach(1) 5 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419) GACTGAAGTGGTTCTCCTTGC 0.428000 79 140 0 0 1 0 0 RPLP0P2 0 broad.mit.edu 37 11 61405030 61405030 + RNA SNP T T A TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr11:61405030T>A ENST00000496593.1 + 0 1634 NR_002775.2 ctgctgctgctgcAGCCCCAG 0.552000 3 57 0 0 1 0 0 COL9A2 1298 broad.mit.edu 37 1 40780025 40780025 + Splice_Site SNP G G A TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr1:40780025G>A ENST00000372748.3 - 3 281 c.186_splice c.e3+1 p.P62_splice NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 62 Triple-helical region 4 (COL4). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) AGCACTCACCGGAGGGCCAGC 0.557000 4 75 0 0 1 0 0 CLEC6A 93978 broad.mit.edu 37 12 8618186 8618186 + Missense_Mutation SNP G G T rs141203382 byFrequency TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr12:8618186G>T ENST00000382073.3 + 4 516 c.330G>T c.(328-330)atG>atT p.M110I NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 110 C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) GTGTTGAGATGGGAGCACATT 0.383000 8 69 0.27861 0.27861 1 1 0 ING1 3621 broad.mit.edu 37 13 111368196 111368196 + Missense_Mutation SNP G G T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr13:111368196G>T ENST00000375774.3 + 1 868 c.406G>T c.(406-408)Ggg>Tgg p.G136W ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 136 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding p.G136W(1) endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) GGCCACTTTCGGGCGCGGATT 0.746000 10 10 7.48243e-07 8.02992e-07 1 1 0 PDILT 204474 broad.mit.edu 37 16 20410495 20410495 + Missense_Mutation SNP C C T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr16:20410495C>T ENST00000302451.4 - 2 376 c.128G>A c.(127-129)cGc>cAc p.R43H NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 43 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TAGGAGACTGCGTTCCTCCAG 0.592000 40 53 0 0 1 0 0 GLT8D2 83468 broad.mit.edu 37 12 104387275 104387275 + Missense_Mutation SNP G G T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr12:104387275G>T ENST00000360814.4 - 10 1180 c.775C>A c.(775-777)Ctc>Atc p.L259I GLT8D2_ENST00000546436.1_Missense_Mutation_p.L259I|GLT8D2_ENST00000548660.1_Missense_Mutation_p.L259I NM_031302.3 NP_112592.1 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 259 integral to membrane transferase activity, transferring glycosyl groups kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 CTGCTATAGAGGTTTTCCCTA 0.438000 3 18 0.115264 0.117945 1 1 0 ZNF131 7690 broad.mit.edu 37 5 43175082 43175082 + Silent SNP C C T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr5:43175082C>T ENST00000509634.1 + 7 2073 c.1617C>T c.(1615-1617)aaC>aaT p.N539N ZNF131_ENST00000306938.4_Silent_p.N539N|ZNF131_ENST00000509156.1_Silent_p.N573N|ZNF131_ENST00000399534.1_Silent_p.N573N|ZNF131_ENST00000505606.2_Silent_p.N539N|ZNF131_ENST00000509931.1_Intron P52739 ZN131_HUMAN zinc finger protein 131 573 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 AAATCATGAACCAAGAGGAGA 0.488000 24 34 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130507029 130507029 + Nonsense_Mutation SNP C C T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr9:130507029C>T ENST00000314830.8 - 7 1727 c.1614G>A c.(1612-1614)tgG>tgA p.W538* SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.W470*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.W381*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.W380*|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.W184*|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.W378* NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 538 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity p.W538C(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGGTCTTGCCCCAGTCCCCTT 0.602000 69 129 0 0 1 0 0 PHF21B 112885 broad.mit.edu 37 22 45312456 45312456 + Missense_Mutation SNP G G A TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr22:45312456G>A ENST00000313237.5 - 4 418 c.268C>T c.(268-270)Cgg>Tgg p.R90W PHF21B_ENST00000447824.3_Missense_Mutation_p.R78W|PHF21B_ENST00000396103.3_Missense_Mutation_p.R90W|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.R78W NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 90 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) TTGGGTGGCCGGTCCCGGCCC 0.627000 15 29 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150345372 150345372 + Missense_Mutation SNP G G A TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chrX:150345372G>A ENST00000218316.3 + 1 248 c.179G>A c.(178-180)cGg>cAg p.R60Q GPR50-AS1_ENST00000454196.1_RNA NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 60 cell-cell signaling integral to plasma membrane melatonin receptor activity p.R60Q(2) breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) AAGAAGCTCCGGAATTCTGGT 0.483000 52 11 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13366064 13366064 + Missense_Mutation SNP T T C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr19:13366064T>C ENST00000360228.5 - 29 4599 c.4600A>G c.(4600-4602)Att>Gtt p.I1534V CACNA1A_ENST00000573710.2_Missense_Mutation_p.I1535V NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1535 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCGAAATCAATGCAGGCCCTC 0.617000 10 13 0 0 1 0 0 RPL32P3 0 broad.mit.edu 37 3 129116000 129116000 + RNA SNP A A G TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr3:129116000A>G ENST00000514355.1 - 0 412 lung(1) 1 GGGAAGAAGTAGCCCCAGGTG 0.542000 5 131 0 0 1 0 0 OR6V1 346517 broad.mit.edu 37 7 142750093 142750093 + Missense_Mutation SNP T T C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr7:142750093T>C ENST00000418316.1 + 1 677 c.656T>C c.(655-657)aTa>aCa p.I219T NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) TATGGCTACATAGTGACCACT 0.547000 4 169 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25488801 25488801 + RNA SNP G G T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr15:25488801G>T ENST00000453082.2 + 0 2332 SNORD115-40_ENST00000606510.1_RNA NR_003343.1 GAAGAGAGGTGATGACTTAAA 0.522000 7 468 0.00198382 0.00207829 1 1 0 IRGQ 126298 broad.mit.edu 37 19 44096613 44096613 + Silent SNP G G A TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr19:44096613G>A ENST00000422989.1 - 3 1592 c.1437C>T c.(1435-1437)gcC>gcT p.A479A IRGQ_ENST00000602269.1_Silent_p.A479A|IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 479 Ala-rich. protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) TCCACGCCCCGGCTCGCAACG 0.736000 4 8 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146755288 146755288 + Missense_Mutation SNP C C T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr6:146755288C>T ENST00000361719.2 + 9 3411 c.2941C>T c.(2941-2943)Cgc>Tgc p.R981C GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.R981C NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 981 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R981C(1) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGTGCACAGGCGCGTGCCAAG 0.652000 48 79 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84124506 84124506 + Silent SNP A A T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr16:84124506A>T ENST00000343411.3 - 8 1500 c.1005T>A c.(1003-1005)gcT>gcA p.A335A MBTPS1_ENST00000569770.1_5'UTR NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 335 Serine protease. cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CATTGCCAATAGCAGAAACCA 0.373000 11 72 0 0 1 0 0 RNF113A 7737 broad.mit.edu 37 X 119005303 119005303 + Missense_Mutation SNP C C T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chrX:119005303C>T ENST00000371442.2 - 1 488 c.274G>A c.(274-276)Gag>Aag p.E92K NM_006978.2 NP_008909.1 O15541 R113A_HUMAN ring finger protein 113A 92 Poly-Glu. nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6) 15 CTCTCGGGCTCATTTTCCTCT 0.547000 116 26 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47697603 47697603 + Missense_Mutation SNP A A G TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr16:47697603A>G ENST00000455779.1 + 25 2458 c.2273A>G c.(2272-2274)cAc>cGc p.H758R PHKB_ENST00000323584.5_Missense_Mutation_p.H765R|PHKB_ENST00000566044.1_Missense_Mutation_p.H758R|PHKB_ENST00000299167.8_Missense_Mutation_p.H765R Q93100 KPBB_HUMAN phosphorylase kinase, beta 765 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) GTTTCTGATCACATTGAGAGA 0.328000 36 49 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529067 5529067 + Missense_Mutation SNP A A C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr11:5529067A>C ENST00000311659.4 - 2 1869 c.1722T>G c.(1720-1722)aaT>aaG p.N574K HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 574 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGAGGTGGATTTGGGAGAG 0.522000 22 26 0 0 1 0 0 INPP5E 56623 broad.mit.edu 37 9 139329254 139329254 + Missense_Mutation SNP G G A TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr9:139329254G>A ENST00000371712.3 - 2 1276 c.874C>T c.(874-876)Cgc>Tgc p.R292C NM_019892.4 NP_063945.2 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase, 72 kDa 292 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity NS(1)|endometrium(1)|lung(4)|skin(3) 9 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) GGGAAGTAGCGGGCCAGCTCA 0.682000 10 13 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68139818 68139818 + Missense_Mutation SNP T T C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr8:68139818T>C ENST00000262215.3 - 26 3996 c.3607A>G c.(3607-3609)Aat>Gat p.N1203D ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N657D|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N41D NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1203 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) ACATCTTCATTAGGATTACAC 0.343000 46 52 0 0 1 0 0 FBXO24 26261 broad.mit.edu 37 7 100190516 100190516 + Silent SNP T T C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr7:100190516T>C ENST00000241071.6 + 5 991 c.669T>C c.(667-669)tgT>tgC p.C223C PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.C261C|FBXO24_ENST00000468962.1_Silent_p.C211C|FBXO24_ENST00000360609.2_Silent_p.C209C|FBXO24_ENST00000465843.1_Silent_p.C209C|PCOLCE-AS1_ENST00000544873.1_RNA NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 223 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCTGTGACTGTGTTGAGGTCT 0.557000 21 24 0 0 1 0 0 BRIP1 83990 broad.mit.edu 37 17 59858254 59858254 + Nonsense_Mutation SNP G G A TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr17:59858254G>A ENST00000259008.2 - 12 2008 c.1741C>T c.(1741-1743)Cga>Tga p.R581* BRIP1_ENST00000577598.1_Nonsense_Mutation_p.R581* NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 581 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 GTTTTCTGTCGTGAACGTTTC 0.358000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 36 76 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170965648 170965648 + Splice_Site SNP G G C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr1:170965648G>C ENST00000367759.4 + 14 1492 c.1337_splice c.e14-1 p.L446_splice MROH9_ENST00000367758.3_Splice_Site_p.L446_splice NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 GGGGCTTTAGGTATGCCCAGG 0.423000 4 122 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 92027931 92027931 + Missense_Mutation SNP A A G TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr7:92027931A>G ENST00000265742.3 + 20 3314 c.2938A>G c.(2938-2940)Atg>Gtg p.M980V NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 980 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GTTTCATGACATGAACCCTCA 0.483000 31 47 0 0 1 0 0 STK19 8859 broad.mit.edu 37 6 31939828 31939828 + Missense_Mutation SNP G G A TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr6:31939828G>A ENST00000375331.2 + 1 221 c.55G>A c.(55-57)Gca>Aca p.A19T DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.A19T NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 ACAGTGGCGGGCAAACCCCTC 0.637000 4 80 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108200991 108200991 + Missense_Mutation SNP G G C TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr11:108200991G>C ENST00000278616.4 + 50 7743 c.7358G>C c.(7357-7359)cGt>cCt p.R2453P ATM_ENST00000452508.2_Missense_Mutation_p.R2453P|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2453 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.R2453P(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TTAGCCCTGCGTGCACTGAAA 0.378000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 32 10 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 71 0 0 1 0 0 SLC25A12 8604 broad.mit.edu 37 2 172669948 172669948 + Missense_Mutation SNP G G A TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr2:172669948G>A ENST00000422440.2 - 11 1109 c.1072C>T c.(1072-1074)Cgt>Tgt p.R358C SLC25A12_ENST00000392592.4_Missense_Mutation_p.R251C NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 358 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) CCAGAGCCACGCTGGTTTTGC 0.438000 60 89 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 100 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240370927 240370927 + Missense_Mutation SNP G G A rs71170718 TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr1:240370927G>A ENST00000319653.9 + 5 3045 c.2815G>A c.(2815-2817)Gga>Aga p.G939R NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 939 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.G1082R(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCTCTACCCGGAGCGGGAAT 0.697000 4 57 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG AG - TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr1:181680102_181680103delAG ENST00000526775.1 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)aaagfs p.KE356fs CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 356 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AATTTGCCAAAGAGAGAGAGAG 0.510 7 73 --- --- --- --- CTC-436K13.1 0 broad.mit.edu 37 5 157616635 157616635 + RNA DEL A A - TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr5:157616635delA ENST00000522975.1 + 0 141 TGCTTCTTCCAAATCTCACCA 0.453 2 4 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 2 4 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 3 6 --- --- --- --- RP11-360K13.1 0 broad.mit.edu 37 11 96514999 96514999 + RNA DEL A A - rs112766481 TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr11:96514999delA ENST00000527528.1 + 0 158 CTTAGTTATTaaaaaaaaaaa 0.368 2 4 --- --- --- --- RP11-248G5.8 0 broad.mit.edu 37 13 52741956 52741957 + RNA DEL CA CA - TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr13:52741956_52741957delCA ENST00000451298.1 - 0 3682_3683 RP11-64P12.8_ENST00000606031.1_RNA CAAACACATGCACACACACACA 0.347 2 4 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684390 26684391 + Frame_Shift_Ins INS - - C rs148075904 by1000genomes TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c 6b34e884-089c-4069-97e8-1cf89b756557 g.chr17:26684390_26684391insC ENST00000540200.1 - 2 80_81 c.81_82insG c.(79-84)aacgctfs p.NA27fs POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 28 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCACAGAGCGGCTTTGCCACCG 0.762 10 4 --- --- --- ---