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 FAM66D 0 broad.mit.edu 37 8 11986053 11986053 + RNA SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr8:11986053G>A ENST00000434078.2 + 0 608 NR_027425.1 CACAATGATAGGCATTCTCTC 0.507000 8 297 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47958147 47958147 + Silent SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:47958147C>T ENST00000426837.2 - 8 1308 c.1221G>A c.(1219-1221)ttG>ttA p.L407L MAP4_ENST00000395734.3_Silent_p.L390L|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Silent_p.L390L P27816 MAP4_HUMAN microtubule-associated protein 4 390 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.L390L(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGGAAGGAGCCAAGTCCATTT 0.448000 6 799 0 0 1 0 0 FAM111B 374393 broad.mit.edu 37 11 58892674 58892674 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:58892674G>A ENST00000343597.3 + 4 1295 c.1104G>A c.(1102-1104)ccG>ccA p.P368P FAM111B_ENST00000529618.1_Silent_p.P338P|FAM111B_ENST00000411426.1_Silent_p.P338P NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 368 catalytic activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 GACGGAGGCCGCATCTGGGTA 0.383000 5 584 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761818 92761818 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:92761818G>A ENST00000318238.4 - 5 4683 c.3467C>T c.(3466-3468)gCg>gTg p.A1156V SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1156V|SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1156V NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1156 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GGCTTTTTCCGCAGCTTCTAG 0.413000 7 818 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 211263994 211263994 + Nonsense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:211263994G>A ENST00000367007.4 - 4 518 c.349C>T c.(349-351)Cga>Tga p.R117* KCNH1_ENST00000271751.4_Nonsense_Mutation_p.R117* NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 117 PAC. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGTTCGTTTCGAATTGGAGCA 0.378000 8 303 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120997 38120997 + Nonsense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:38120997C>T ENST00000406386.3 + 7 2689 c.2434C>T c.(2434-2436)Cag>Tag p.Q812* RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 812 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGCCACCCAACAGGACAACCC 0.517000 8 408 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120006 38120006 + Silent SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:38120006T>C ENST00000406386.3 + 7 1698 c.1443T>C c.(1441-1443)tgT>tgC p.C481C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 481 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C481C(3) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGTGCCCAGCGGG 0.592000 5 584 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 9 531 0.000422831 0.000449821 1 1 0 EHMT2 10919 broad.mit.edu 37 6 31850736 31850736 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr6:31850736G>A ENST00000395728.3 - 23 3215 c.3216C>T c.(3214-3216)ttC>ttT p.F1072F EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.F981F|EHMT2_ENST00000375528.4_Silent_p.F1038F|EHMT2_ENST00000375537.4_Silent_p.F1015F Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 1015 SET. DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 GGTTACACTCGAAAATCAGCG 0.577000 5 331 0 0 1 0 0 SMARCC1 6599 broad.mit.edu 37 3 47651727 47651727 + Missense_Mutation SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:47651727T>C ENST00000254480.5 - 26 2991 c.2872A>G c.(2872-2874)Atg>Gtg p.M958V SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 958 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TGCTGTTCCATTTGCTGTCGT 0.542000 14 1004 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53762737 53762737 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:53762737G>A ENST00000341702.3 + 1 1193 c.1109G>A c.(1108-1110)cGt>cAt p.R370H VN1R2_ENST00000598458.1_Intron NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 370 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) CTCATGTGCCGTGACCCCAGC 0.428000 6 666 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26608892 26608892 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:26608892G>A ENST00000314675.7 - 11 1180 c.1101C>T c.(1099-1101)ccC>ccT p.P367P UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000374222.1_Silent_p.P487P|UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000374221.3_Silent_p.P487P NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 487 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 gaccgggaccgggacagggac 0.716000 6 453 0 0 1 0 0 POU2F1 5451 broad.mit.edu 37 1 167385027 167385027 + Missense_Mutation SNP A A G TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:167385027A>G ENST00000367862.5 + 16 2483 c.2248A>G c.(2248-2250)Acc>Gcc p.T750A POU2F1_ENST00000541643.3_Missense_Mutation_p.T738A|POU2F1_ENST00000429375.2_Missense_Mutation_p.T698A|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.T761A NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 738 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 CACCACCACCACCGCCTCCAA 0.582000 9 754 0 0 1 0 0 WASH2P 0 broad.mit.edu 37 2 114355129 114355129 + RNA SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:114355129G>A ENST00000538033.2 + 0 2068 GAGTCCATCCGCCAAGCTGGG 0.657000 8 115 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810766 7810766 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:7810766C>T ENST00000315599.7 - 4 408 c.386G>A c.(385-387)cGg>cAg p.R129Q CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000394161.5_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000394173.4_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGCCTTCAGCCGGGTCAGCTC 0.567000 8 980 0 0 1 0 0 CGREF1 10669 broad.mit.edu 37 2 27324340 27324340 + Silent SNP G G A rs11893427 TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:27324340G>A ENST00000402394.1 - 6 1027 c.759C>T c.(757-759)ccC>ccT p.P253P CGREF1_ENST00000312734.4_Silent_p.P253P|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Silent_p.P375P|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_Silent_p.P253P NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 253 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCTGGGCCCGGGGGCATCTC 0.706000 6 790 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179476531 179476531 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:179476531G>A ENST00000589042.1 - 268 50729 c.50505C>T c.(50503-50505)ggC>ggT p.G16835G TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.G15194G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.G14267G|TTN_ENST00000359218.5_Silent_p.G7895G|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.G7962G|TTN_ENST00000460472.2_Silent_p.G7770G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15194 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) CACTTGGGTGGCCAACTCCAG 0.443000 6 646 0 0 1 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 9 568 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50487686 50487686 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:50487686C>T ENST00000266182.6 - 3 255 c.256G>A c.(256-258)Gac>Aac p.D86N TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Missense_Mutation_p.D86N tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) ACCATCACGTCGTGGATGTTG 0.527000 12 640 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43552730 43552730 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr15:43552730G>A ENST00000220420.5 - 2 65 c.58C>T c.(58-60)Cgg>Tgg p.R20W TGM5_ENST00000349114.4_Missense_Mutation_p.R20W NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 20 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GTGTGGTGCCGCACATTATTT 0.587000 6 699 0 0 1 0 0 MAML1 9794 broad.mit.edu 37 5 179200917 179200917 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr5:179200917G>A ENST00000292599.3 + 5 2353 c.2090G>A c.(2089-2091)gGc>gAc p.G697D MAML1_ENST00000503050.1_Intron NM_014757.4 NP_055572.1 Q92585 MAML1_HUMAN mastermind-like 1 (Drosophila) 697 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGTGCCCGGCATGAACACC 0.587000 6 809 0 0 1 0 0 WWTR1 25937 broad.mit.edu 37 3 149260145 149260145 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:149260145G>A ENST00000465804.1 - 5 1004 c.748C>T c.(748-750)Cgc>Tgc p.R250C WWTR1_ENST00000360632.3_Missense_Mutation_p.R250C|WWTR1_ENST00000467467.1_Missense_Mutation_p.R250C NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 250 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TCCTCTTGGCGCATTCGAATC 0.552000 T CAMTA1 epitheliod hemangioendothelioma 5 315 0 0 1 0 0 SNX32 254122 broad.mit.edu 37 11 65618619 65618619 + Missense_Mutation SNP C C T rs147615662 byFrequency TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:65618619C>T ENST00000308342.6 + 7 1122 c.697C>T c.(697-699)Cgc>Tgc p.R233C NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 233 cell communication|protein transport phosphatidylinositol binding p.R233C(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) CCGCGTCATGCGCGCCCACAA 0.632000 OREG0021087 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 738 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 7 438 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040668 147040668 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr5:147040668G>A ENST00000265272.5 - 3 937 c.470C>T c.(469-471)gCg>gTg p.A157V JAKMIP2_ENST00000333010.6_Missense_Mutation_p.A115V|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.A157V NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 157 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTCAGGTCCGCAATTTCCTG 0.542000 6 928 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128193 152128193 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:152128193G>A ENST00000316073.3 - 3 1446 c.1382C>T c.(1381-1383)tCc>tTc p.S461F NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 461 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACCATAGTGGGAACTCTGGCC 0.517000 14 3057 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 436658 436658 + Missense_Mutation SNP A A T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr4:436658A>T ENST00000338977.5 - 2 1610 c.1562T>A c.(1561-1563)gTa>gAa p.V521E ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.V533E|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 TTTGCCACATACTTCACATGT 0.398000 7 512 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 5 149 0 0 1 0 0 RFC2 5982 broad.mit.edu 37 7 73663432 73663432 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:73663432C>T ENST00000055077.3 - 4 302 c.242G>A c.(241-243)gGc>gAc p.G81D RFC2_ENST00000352131.3_Missense_Mutation_p.G81D NM_181471.1 NP_852136.1 P35250 RFC2_HUMAN replication factor C (activator 1) 2, 40kDa 81 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 TGTGGTCTTGCCGGTTCCTGG 0.517000 5 497 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128735 45128735 + RNA SNP T T C rs138973461 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr17:45128735T>C ENST00000575173.1 - 0 418 GAAATACTAATGATTTTTATT 0.323000 8 376 0 0 1 0 0 TMCO5A 145942 broad.mit.edu 37 15 38234406 38234406 + Silent SNP G G T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr15:38234406G>T ENST00000558158.1 + 9 673 c.519G>T c.(517-519)acG>acT p.T173T TMCO5A_ENST00000559502.1_Silent_p.T173T|TMCO5A_ENST00000319669.4_Silent_p.T173T|TMCO5A_ENST00000540944.1_Silent_p.T173T Q8N6Q1 TMC5A_HUMAN transmembrane and coiled-coil domains 5A 173 integral to membrane central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 15 ACCAGGAAACGTTGAAGAAAA 0.373000 5 729 0.000602214 0.00063391 1 1 0 ZNF780A 284323 broad.mit.edu 37 19 40581260 40581260 + Nonsense_Mutation SNP G G T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:40581260G>T ENST00000450241.2 - 6 1298 c.987C>A c.(985-987)tgC>tgA p.C329* ZNF780A_ENST00000594395.1_Nonsense_Mutation_p.C364*|ZNF780A_ENST00000595687.2_Nonsense_Mutation_p.C363*|ZNF780A_ENST00000340963.5_Nonsense_Mutation_p.C363*|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Nonsense_Mutation_p.C364* O75290 Z780A_HUMAN zinc finger protein 780A 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CACATTCCCTGCATTCAAAGG 0.413000 14 439 4.93089e-13 5.4485e-13 1 1 0 SPATA17 128153 broad.mit.edu 37 1 217975123 217975123 + Missense_Mutation SNP C C A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:217975123C>A ENST00000366933.4 + 9 991 c.936C>A c.(934-936)agC>agA p.S312R SPATA17_ENST00000471021.1_3'UTR NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 312 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) ATTTATCAAGCAAGTATGGTC 0.294000 5 175 0.000602214 0.00063391 1 1 0 MUC7 4589 broad.mit.edu 37 4 71347185 71347185 + Missense_Mutation SNP T T C rs79807294 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr4:71347185T>C ENST00000413702.1 + 4 1012 c.724T>C c.(724-726)Tct>Cct p.S242P MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 242 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.592000 7 977 0 0 1 0 0 FH 2271 broad.mit.edu 37 1 241663871 241663871 + Nonsense_Mutation SNP G G T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:241663871G>T ENST00000366560.3 - 9 1294 c.1256C>A c.(1255-1257)tCa>tAa p.S419* NM_000143.3 NP_000134.2 P07954 FUMH_HUMAN fumarate hydratase 419 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2) 26 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) CAGCCTGGCTGAGTGTAACAC 0.438000 """Mis, N, F""" """lieomyomatosis, renal""" Hereditary Leiomyomatosis and Renal Cell Cancer 6 452 1 1 1 1 0 PREX1 57580 broad.mit.edu 37 20 47248824 47248824 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr20:47248824C>T ENST00000396220.1 - 34 4643 c.4621G>A c.(4621-4623)Gca>Aca p.A1541T PREX1_ENST00000371941.3_Missense_Mutation_p.R1506H Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 0 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCTGAGTTTGCGGTAATACTG 0.622000 7 1069 0 0 1 0 0 GNAT1 2779 broad.mit.edu 37 3 50231284 50231284 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:50231284C>T ENST00000232461.3 + 5 662 c.548C>T c.(547-549)aCg>aTg p.T183M GNAT1_ENST00000433068.1_Missense_Mutation_p.T183M|GNAT1_ENST00000481246.1_3'UTR NM_144499.2 NP_653082.1 P11488 GNAT1_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 183 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) ATCATCGAGACGCAGTTCTCC 0.652000 7 366 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954710 30954710 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr6:30954710G>A ENST00000376296.3 + 2 999 c.758G>A c.(757-759)gGc>gAc p.G253D MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 253 28 X 15 AA approximate tandem repeats.|Ser-rich. G -> S (in dbSNP:rs41288655). integral to membrane|plasma membrane p.G253D(1) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGTGGGGCCGGCACAGCCACC 0.637000 9 1298 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128179 152128179 + Missense_Mutation SNP T T G TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:152128179T>G ENST00000316073.3 - 3 1460 c.1396A>C c.(1396-1398)Aca>Cca p.T466P NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 466 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGTCTGTCTGTCTGACCATAG 0.498000 13 3084 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224547 77224547 + Missense_Mutation SNP C C G rs148072662 TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chrX:77224547C>G ENST00000458128.1 - 1 588 c.589G>C c.(589-591)Gtg>Ctg p.V197L ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 197 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 AGACCCTCCACATGCTTGGCA 0.507000 6 394 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T rs114234640 byFrequency TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr6:32725567C>T ENST00000435145.2 - 4 801 c.740G>A c.(739-741)cGt>cAt p.R247H HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCCCTGTGACGGATGATAAG 0.552000 9 130 0 0 1 0 0 SRI 6717 broad.mit.edu 37 7 87840221 87840221 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:87840221G>A ENST00000265729.2 - 4 277 c.225C>T c.(223-225)tgC>tgT p.C75C SRI_ENST00000394641.3_Silent_p.C60C|SRI_ENST00000419179.1_Silent_p.C75C|SRI_ENST00000490437.1_Silent_p.C32C|SRI_ENST00000431660.1_Silent_p.C60C NM_003130.3 NP_003121.1 P30626 SORCN_HUMAN sorcin 75 EF-hand 2. heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction sarcoplasmic reticulum membrane calcium channel regulator activity|calcium ion binding|receptor binding large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(14;0.00202) CCATAAGCCGGCAAGTCTCCA 0.284000 5 277 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 7 205 0 0 1 0 0 C9orf131 138724 broad.mit.edu 37 9 35044336 35044336 + Silent SNP G G A rs115027328 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr9:35044336G>A ENST00000312292.5 + 2 1757 c.1710G>A c.(1708-1710)ccG>ccA p.P570P C9orf131_ENST00000354479.5_Silent_p.P497P|C9orf131_ENST00000421362.2_Silent_p.P522P NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 570 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) CTCTTGCACCGGAGCTGCTCA 0.527000 6 833 0 0 1 0 0 NBPF9 400818 broad.mit.edu 37 1 144828704 144828704 + Missense_Mutation SNP T T G TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:144828704T>G ENST00000338347.4 + 14 1750 c.1750T>G c.(1750-1752)Tac>Gac p.Y584D NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D neuroblastoma breakpoint family, member 9 p.L657L(3)|p.Y584D(1) NS(2)|prostate(1) 3 CTTCGCCCTTTACGTGGACAA 0.438000 7 1053 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93800764 93800764 + Missense_Mutation SNP A A G TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:93800764A>G ENST00000315765.9 + 5 919 c.911A>G c.(910-912)cAt>cGt p.H304R NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 304 Plastocyanin-like 2. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ATAGACATCCATTCTATCTAT 0.463000 12 791 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 363 0 0 1 0 0 EEF1A2 1917 broad.mit.edu 37 20 62122019 62122019 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr20:62122019G>A ENST00000217182.3 - 6 1007 c.842C>T c.(841-843)gCg>gTg p.A281V EEF1A2_ENST00000298049.7_Missense_Mutation_p.A281V NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 281 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GTTCACTGGCGCAAAGGTCAC 0.637000 6 419 0 0 1 0 0 RBMX 27316 broad.mit.edu 37 X 135957302 135957302 + Missense_Mutation SNP G G A rs142954172 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chrX:135957302G>A ENST00000562646.1 - 8 962 c.808C>T c.(808-810)Cgt>Tgt p.R270C RBMX_ENST00000431446.3_Silent_p.I161I|RBMX_ENST00000565438.1_Missense_Mutation_p.R142C|RBMX_ENST00000320676.7_Missense_Mutation_p.R270C|RBMX_ENST00000570135.1_Missense_Mutation_p.R135C P38159 HNRPG_HUMAN RNA binding motif protein, X-linked 270 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding p.R270C(1)|p.I161I(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) GAATAGTCACGATCACGACCA 0.383000 5 456 0 0 1 0 0 RNF133 168433 broad.mit.edu 37 7 122338787 122338787 + Missense_Mutation SNP A A T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:122338787A>T ENST00000340112.2 - 1 423 c.186T>A c.(184-186)ttT>ttA p.F62L CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 62 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 AGCTTCTTCCAAAGACTCCAG 0.423000 9 580 0 0 1 0 0 LRTM2 0 broad.mit.edu 37 12 1943759 1943759 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr12:1943759G>A ENST00000543818.1 + 5 1827 c.985G>A c.(985-987)Gct>Act p.A329T LRTM2_ENST00000299194.1_Missense_Mutation_p.A329T|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.A329T NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 329 integral to membrane p.A329T(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) GGTGGTGGCCGCTGCCTATGG 0.662000 5 373 0 0 1 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36557376 36557376 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:36557376C>T ENST00000373178.4 + 3 496 c.466C>T c.(466-468)Cgg>Tgg p.R156W NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 156 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) AGGTGCCATGCGGGTGGCTGG 0.582000 5 454 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254959 51254959 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:51254959G>A ENST00000404971.1 - 2 1792 c.453C>T c.(451-453)agC>agT p.S151S NRXN1_ENST00000406316.2_Silent_p.S151S|NRXN1_ENST00000405581.1_Silent_p.S151S|NRXN1_ENST00000401669.2_Silent_p.S151S|NRXN1_ENST00000406859.3_Silent_p.S151S|NRXN1_ENST00000402717.3_Silent_p.S151S|NRXN1_ENST00000405472.3_Silent_p.S151S NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 151 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CGAAAAGGCCGCTGAACACCG 0.672000 4 136 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144547942 144547942 + Missense_Mutation SNP C C T rs113716075 byFrequency TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr8:144547942C>T ENST00000262577.5 - 9 2283 c.2252G>A c.(2251-2253)cGc>cAc p.R751H NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 751 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CTCGGCCTTGCGGGACACGTA 0.632000 5 333 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640946 179640946 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:179640946C>T ENST00000589042.1 - 28 5869 c.5645G>A c.(5644-5646)cGc>cAc p.R1882H TTN_ENST00000591111.1_Missense_Mutation_p.R1882H|TTN_ENST00000342992.6_Missense_Mutation_p.R1882H|TTN_ENST00000359218.5_Missense_Mutation_p.R1836H|TTN_ENST00000342175.6_Missense_Mutation_p.R1836H|TTN_ENST00000360870.5_Missense_Mutation_p.R1882H|TTN_ENST00000460472.2_Missense_Mutation_p.R1836H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1597 Ig-like 9. 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) TTTGCTTTTGCGGATGAGCTG 0.502000 8 1013 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100681981 100681981 + Silent SNP C C G rs148310097 byFrequency TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:100681981C>G ENST00000306151.4 + 3 7348 c.7284C>G c.(7282-7284)gtC>gtG p.V2428V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2428 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GCACACCTGTCACCACTTCTA 0.522000 11 1889 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 5 237 0 0 1 0 0 SLX4 84464 broad.mit.edu 37 16 3658692 3658692 + Missense_Mutation SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr16:3658692T>C ENST00000294008.3 - 2 914 c.274A>G c.(274-276)Agg>Ggg p.R92G NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 92 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TGTTTGGTCCTTTTCAATTTG 0.468000 Direct reversal of damage 5 495 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120707 38120707 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:38120707C>T ENST00000406386.3 + 7 2399 c.2144C>T c.(2143-2145)aCc>aTc p.T715I RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 715 RTTQQEN -> KSTFGCL (in Ref. 7; BAB33332). actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AACAGAACCACCCAACAAGAG 0.577000 8 491 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107978822 107978822 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chrX:107978822G>A ENST00000372129.2 - 1 829 c.753C>T c.(751-753)agC>agT p.S251S NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 251 IRS-type PTB. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GGAACACGCCGCTCAGCTCTT 0.627000 4 204 0 0 1 0 0 CALCOCO2 10241 broad.mit.edu 37 17 46926637 46926637 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr17:46926637G>A ENST00000258947.3 + 5 542 c.441G>A c.(439-441)caG>caA p.Q147Q CALCOCO2_ENST00000509507.1_Silent_p.Q168Q|CALCOCO2_ENST00000508679.1_Silent_p.Q75Q|CALCOCO2_ENST00000448105.2_Silent_p.Q171Q|CALCOCO2_ENST00000416445.2_Intron NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4 NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 147 response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 15 AGATTGAGCAGCACAACAAGG 0.468000 7 565 0 0 1 0 0 RELT 84957 broad.mit.edu 37 11 73105561 73105561 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:73105561G>A ENST00000064780.2 + 9 1089 c.828G>A c.(826-828)ccG>ccA p.P276P RELT_ENST00000393580.2_Silent_p.P276P NM_152222.1 NP_689408.1 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor 276 cytoplasm|integral to membrane|plasma membrane binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 12 ACATCTGCCCGCACCGCCACC 0.706000 8 779 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431050 37431050 + Missense_Mutation SNP G G C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr10:37431050G>C ENST00000374660.1 + 7 1156 c.1057G>C c.(1057-1059)Gca>Cca p.A353P ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A353P|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A353P Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 409 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A353P(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGGCAGCAAAAGG 0.408000 6 475 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 11 398 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 10 260 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276216 186276216 + Silent SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:186276216T>C ENST00000445192.2 + 7 1410 c.1365T>C c.(1363-1365)acT>acC p.T455T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T362T|PRG4_ENST00000367483.4_Silent_p.T414T|PRG4_ENST00000367486.3_Silent_p.T412T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 455 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.652000 12 584 0 0 1 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681305 125681305 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr9:125681305G>A ENST00000373656.3 - 2 982 c.909C>T c.(907-909)tgC>tgT p.C303C ZBTB26_ENST00000373654.1_Silent_p.C303C NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 AAGTCTTGCCGCAGAGTAGAC 0.458000 6 479 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 11 582 0 0 1 0 0 EGLN1 54583 broad.mit.edu 37 1 231557097 231557097 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:231557097G>A ENST00000366641.3 - 1 3693 c.538C>T c.(538-540)Cgg>Tgg p.R180W NM_022051.2 NP_071334.1 Q9GZT9 EGLN1_HUMAN egl-9 family hypoxia-inducible factor 1 180 negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia cytosol iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 16 Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244) Vitamin C(DB00126) CCGTTGGGCCGCAGGCCGCCG 0.687000 4 127 0 0 1 0 0 TRIM28 10155 broad.mit.edu 37 19 59057217 59057217 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:59057217G>A ENST00000253024.5 + 3 829 c.540G>A c.(538-540)gcG>gcA p.A180A TRIM28_ENST00000341753.6_Intron NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 180 RBCC domain. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GTGTAGAGGCGCACCAGCGGG 0.577000 5 341 0 0 1 0 0 RNF25 64320 broad.mit.edu 37 2 219529962 219529962 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:219529962G>A ENST00000295704.2 - 8 1022 c.582C>T c.(580-582)gtC>gtT p.V194V NM_022453.2 NP_071898.2 Q96BH1 RNF25_HUMAN ring finger protein 25 194 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTGCACACCGACTGCCTTCT 0.532000 7 296 0 0 1 0 0 KIAA1045 23349 broad.mit.edu 37 9 34972446 34972446 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr9:34972446G>A ENST00000242315.3 + 3 564 c.482G>A c.(481-483)cGc>cAc p.R161H KIAA1045_ENST00000544237.1_Missense_Mutation_p.R161H|KIAA1045_ENST00000476115.2_3'UTR NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 161 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) TGCCTGCGCCGCATGGGCTAC 0.577000 6 574 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 6 294 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224555 77224555 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chrX:77224555G>A ENST00000458128.1 - 1 580 c.581C>T c.(580-582)gCc>gTc p.A194V ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 194 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 CACATGCTTGGCAATGCCCTG 0.517000 5 393 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774448 89774448 + Silent SNP G G A rs77759231 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:89774448G>A ENST00000448984.1 + 8 1418 c.1089G>A c.(1087-1089)aaG>aaA p.K363K TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 363 B30.2/SPRY. intracellular zinc ion binding endometrium(3)|kidney(1)|lung(4) 8 TGTATCGGAAGGAGAAGAATC 0.453000 6 164 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 7 707 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136409467 136409467 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:136409467G>A ENST00000264160.4 + 17 2158 c.1788G>A c.(1786-1788)ccG>ccA p.P596P R3HDM1_ENST00000409478.1_Silent_p.P468P|R3HDM1_ENST00000329971.3_Silent_p.P467P|R3HDM1_ENST00000409606.1_Silent_p.P597P|R3HDM1_ENST00000410054.1_Silent_p.P541P NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 596 Poly-Pro. nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) ctcctccaccgccaccaccac 0.602000 7 423 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98207791 98207791 + Missense_Mutation SNP C C A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr5:98207791C>A ENST00000284049.3 - 27 3974 c.3825G>T c.(3823-3825)atG>atT p.M1275I NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1275 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) CCATTTTAATCATTTCCCAGC 0.343000 5 497 1 1 1 1 0 TXNDC2 0 broad.mit.edu 37 18 9887461 9887461 + Missense_Mutation SNP A A C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr18:9887461A>C ENST00000306084.6 + 2 1184 c.985A>C c.(985-987)Atc>Ctc p.I329L TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.I262L NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 329 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GGAGGGTGACATCCCCAAGTC 0.592000 5 696 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220341686 220341686 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:220341686G>A ENST00000312358.7 + 19 4674 c.4542G>A c.(4540-4542)ccG>ccA p.P1514P SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1514 Ig-like 8. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AACCACTGCCGGACATCATGT 0.632000 5 369 0 0 1 0 0 KRTAP17-1 83902 broad.mit.edu 37 17 39471774 39471774 + Silent SNP G G A rs140274808 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr17:39471774G>A ENST00000334202.3 - 1 173 c.129C>T c.(127-129)tgC>tgT p.C43C NM_031964.1 NP_114170.1 Q9BYP8 KR171_HUMAN keratin associated protein 17-1 43 intermediate filament haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) cagagcccccgcagccagagc 0.692000 5 83 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 5 401 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575498 12575498 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:12575498G>A ENST00000397732.3 - 4 1409 c.1238C>T c.(1237-1239)aCt>aTt p.T413I ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T413I(2) large_intestine(3)|upper_aerodigestive_tract(3) 6 TCCAGTGTGAGTTCTTTCATG 0.418000 8 573 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 466365 466365 + Splice_Site SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr4:466365T>C ENST00000511833.2 - 2 226 c.34_splice c.e2+1 p.L11_splice ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000338977.5_Intron|ZNF721_ENST00000507078.1_5'UTR|ZNF721_ENST00000506646.1_Splice_Site_p.L43_splice NM_133474.3 NP_597731.2 zinc finger protein 721 p.L11L(1) endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 TATCCTCACCTAGGGAGACCA 0.368000 9 342 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011400 46011400 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr21:46011400G>A ENST00000400368.1 - 1 986 c.966C>T c.(964-966)tcC>tcT p.S322S TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 322 29 X 5 AA repeats of C-C-X(3). keratin filament p.S322S(5) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 AGGCACCACAGGAGGGGACGG 0.692000 5 548 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420862 11420862 + RNA SNP T T G TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr12:11420862T>G ENST00000381842.3 - 0 358 PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGGACTGGTTTCCTCCTTGTG 0.632000 10 2100 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 5 264 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510502 169510502 + Missense_Mutation SNP G G T rs140018525 byFrequency TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:169510502G>T ENST00000367796.3 - 13 4042 c.3841C>A c.(3841-3843)Ctt>Att p.L1281I F5_ENST00000367797.3_Missense_Mutation_p.L1276I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1276 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTGGAGAAAGGGGCATCTGA 0.502000 10 1480 1.12685e-05 1.21167e-05 1 1 0 RNF181 51255 broad.mit.edu 37 2 85824016 85824016 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:85824016C>T ENST00000441634.1 + 3 328 c.289C>T c.(289-291)Ctt>Ttt p.L97F RNF181_ENST00000306368.4_Missense_Mutation_p.L97F Q9P0P0 RN181_HUMAN ring finger protein 181 97 ligase activity|zinc ion binding lung(1)|stomach(1) 2 TTGCCATCACCTTTTCCATTC 0.522000 11 684 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15865513 15865513 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr16:15865513G>A ENST00000338282.6 - 9 1052 c.946C>T c.(946-948)Ccc>Tcc p.P316S MYH11_ENST00000452625.2_Missense_Mutation_p.P323S|MYH11_ENST00000396324.3_Missense_Mutation_p.P323S|MYH11_ENST00000300036.5_Missense_Mutation_p.P316S|MYH11_ENST00000576790.1_Missense_Mutation_p.P316S NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 316 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCTGGGATGGGCACAAAGCCA 0.517000 T CBFB AML 5 319 0 0 1 0 0 HLA-V 0 broad.mit.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr6:29761676C>G ENST00000457107.1 + 0 902 gagagggtttcatattcaaga 0.493000 7 70 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46914994 46914994 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:46914994G>A ENST00000307522.3 - 1 1847 c.1074C>T c.(1072-1074)aaC>aaT p.N358N NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 358 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTTCCCTCTGGTTATCTGCAG 0.587000 10 1164 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73567098 73567098 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr17:73567098G>A ENST00000392550.3 + 17 2210 c.2093G>A c.(2092-2094)cGc>cAc p.R698H LLGL2_ENST00000167462.5_Missense_Mutation_p.R698H|LLGL2_ENST00000577200.1_Missense_Mutation_p.R698H NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 698 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CCTGTGCAGCGCAAGATCGAG 0.642000 5 672 0 0 1 0 0 GRIN2A 0 broad.mit.edu 37 16 10274159 10274159 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr16:10274159G>A ENST00000396573.2 - 3 419 c.110C>T c.(109-111)gCg>gTg p.A37V GRIN2A_ENST00000330684.3_Missense_Mutation_p.A37V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A37V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A37V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A37V NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 37 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 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) CAGCATCACCGCAATATTTAG 0.692000 5 409 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 6 593 0 0 1 0 0 PARL 55486 broad.mit.edu 37 3 183547482 183547482 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:183547482G>A ENST00000317096.4 - 10 1104 c.1044C>T c.(1042-1044)taC>taT p.Y348Y PARL_ENST00000435888.1_Silent_p.Y264Y|PARL_ENST00000311101.5_Silent_p.Y298Y NM_018622.5 NP_061092.3 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like 348 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity p.Y348Y(1) endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GTTCATGACCGTAAGTAACAT 0.423000 6 748 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33068870 33068870 + Silent SNP G G A rs113018466 byFrequency TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr9:33068870G>A ENST00000397149.3 - 4 503 c.453C>T c.(451-453)ggC>ggT p.G151G SMU1_ENST00000536631.1_5'UTR NM_018225.2 NP_060695.2 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) 151 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) CACTGACTTCGCCAGCTAAGG 0.507000 7 264 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43763169 43763169 + Silent SNP G G A rs2355449 byFrequency TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:43763169G>A ENST00000418820.2 - 3 647 c.549C>T c.(547-549)aaC>aaT p.N183N PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Silent_p.N276N Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 183 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GGCTCTGACCGTTTAGCCACC 0.473000 10 1409 0 0 1 0 0 RLN2 6019 broad.mit.edu 37 9 5304440 5304440 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr9:5304440G>A ENST00000381627.3 - 1 529 c.141C>T c.(139-141)tgC>tgT p.C47C RLN2_ENST00000308420.3_Silent_p.C47C NM_134441.2 NP_604390.1 P04090 REL2_HUMAN relaxin 2 47 female pregnancy extracellular region hormone activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 11 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) TGCTCATGCCGCAAATGGCAA 0.552000 5 280 0 0 1 0 0 AGO1 26523 broad.mit.edu 37 1 36354142 36354142 + Missense_Mutation SNP T T A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:36354142T>A ENST00000373204.4 + 2 353 c.140T>A c.(139-141)aTc>aAc p.I47N AGO1_ENST00000373206.1_5'UTR NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 GAGGTGGACATCCCTAAGATC 0.562000 9 495 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227662683 227662683 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:227662683G>A ENST00000305123.4 - 1 1792 c.772C>T c.(772-774)Cgg>Tgg p.R258W NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 258 IRS-type PTB. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CTCATGGCCCGCATGGCCTCC 0.637000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 442 0 0 1 0 0 MED1 5469 broad.mit.edu 37 17 37564496 37564496 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr17:37564496G>A ENST00000300651.6 - 17 4201 c.3978C>T c.(3976-3978)gaC>gaT p.D1326D MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1326 Interaction with TP53.|Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CCATCTGGCCGTCCAGTGGGT 0.512000 HNSCC(31;0.082) 6 604 0 0 1 0 0 XRCC6 2547 broad.mit.edu 37 22 42018069 42018069 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:42018069G>A ENST00000359308.4 + 1 716 c.61G>A c.(61-63)Gaa>Aaa p.E21K XRCC6_ENST00000405878.1_Missense_Mutation_p.E21K|XRCC6_ENST00000360079.3_Missense_Mutation_p.E21K|XRCC6_ENST00000405506.1_Silent_p.K8K|XRCC6_ENST00000428575.2_5'UTR|XRCC6_ENST00000402580.3_Missense_Mutation_p.E21K P12956 XRCC6_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 6 21 Asp/Glu-rich (acidic).|Ser-rich (potentially targets for phosphorylation). DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 GGAAGAACAAGAAGAGAACCT 0.483000 Non-homologous end-joining 6 282 0 0 1 0 0 PTGFR 5737 broad.mit.edu 37 1 79002208 79002208 + Missense_Mutation SNP C C A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:79002208C>A ENST00000370757.3 + 3 1153 c.916C>A c.(916-918)Ctt>Att p.L306I PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.L306I NM_000959.3 NP_000950.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 306 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) GGTATATATTCTTCTACGAAA 0.388000 7 546 0.0293803 0.0299799 1 1 0 CSPG4 1464 broad.mit.edu 37 15 75982078 75982078 + Missense_Mutation SNP C C T rs138382756 TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr15:75982078C>T ENST00000308508.5 - 3 1420 c.1328G>A c.(1327-1329)gGc>gAc p.G443D NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 443 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CCAGGCTGTGCCCCCCTCGGC 0.642000 5 425 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324262 152324262 + Silent SNP T T C rs144862791 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:152324262T>C ENST00000388718.5 - 3 6072 c.6000A>G c.(5998-6000)caA>caG p.Q2000Q FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2000 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TATCTGCTGTTTGTCCATGAG 0.512000 7 1420 0 0 1 0 0 RXRB 6257 broad.mit.edu 37 6 33166123 33166123 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr6:33166123C>T ENST00000374680.3 - 3 813 c.602G>A c.(601-603)gGc>gAc p.G201D RXRB_ENST00000374685.4_Missense_Mutation_p.G201D|RXRB_ENST00000413614.2_Missense_Mutation_p.G105D|RXRB_ENST00000544186.1_Missense_Mutation_p.G11D NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 201 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TAGCCGTTTGCCAGCCCCAGG 0.622000 6 953 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661208 22661208 + RNA SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:22661208C>T ENST00000426066.1 + 0 300 NR_027293.1 CTGAATCATGCAGAATTTGAA 0.408000 9 230 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145843226 145843226 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr5:145843226G>A ENST00000296702.5 + 5 1043 c.1005G>A c.(1003-1005)ccG>ccA p.P335P TCERG1_ENST00000394421.2_Silent_p.P335P NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 335 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCCCCAGCCGCACCCTCAGA 0.517000 5 770 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 6 335 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 128 0 0 1 0 0 FUBP3 8939 broad.mit.edu 37 9 133499056 133499056 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr9:133499056G>A ENST00000319725.9 + 11 1008 c.933G>A c.(931-933)caG>caA p.Q311Q NM_003934.1 NP_003925.1 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 311 KH 3. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2) 21 OV - Ovarian serous cystadenocarcinoma(145;0.000279) ATCGGTGTCAGCATGCAGCGC 0.547000 5 456 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37732058 37732058 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr8:37732058G>A ENST00000330843.4 - 3 1609 c.1597C>T c.(1597-1599)Ccc>Tcc p.P533S RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.P385S|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P533S|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P385S NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 533 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGGTCTGGGGAGCCCTCGGA 0.542000 7 442 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36018407 36018407 + Silent SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:36018407T>C ENST00000452271.2 - 1 805 c.777A>G c.(775-777)agA>agG p.R259R SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 132 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTGGCCAAATCTCCCTGCCT 0.627000 12 25 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56185361 56185361 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:56185361G>A ENST00000450554.2 + 12 2302 c.1343G>A c.(1342-1344)cGc>cAc p.R448H CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.R452H|U2AF2_ENST00000590551.1_Missense_Mutation_p.R284H NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 452 RRM 3. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CTGACGGGCCGCAAGTTCGCC 0.577000 6 568 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661206 22661206 + RNA SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:22661206T>C ENST00000426066.1 + 0 298 NR_027293.1 AGCTGAATCATGCAGAATTTG 0.408000 9 228 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000394161.5_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 6 971 0 0 1 0 0 GRIK2 2898 broad.mit.edu 37 6 102134137 102134137 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr6:102134137C>T ENST00000369138.1 + 6 1350 c.860C>T c.(859-861)aCc>aTc p.T287I GRIK2_ENST00000318991.6_Missense_Mutation_p.T287I|GRIK2_ENST00000358361.3_Missense_Mutation_p.T287I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T238I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T287I|GRIK2_ENST00000421544.1_Missense_Mutation_p.T287I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T287I NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 287 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) ACAGAAAATACCCAAGTCTCC 0.423000 6 325 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40630429 40630429 + Silent SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr21:40630429T>C ENST00000342449.3 - 18 2133 c.2055A>G c.(2053-2055)gaA>gaG p.E685E BRWD1_ENST00000380800.3_Silent_p.E685E|BRWD1_ENST00000333229.2_Silent_p.E685E NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 685 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GGGGTGTTTCTTCACCATTTG 0.388000 13 782 0 0 1 0 0 NEK6 10783 broad.mit.edu 37 9 127089667 127089667 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr9:127089667G>A ENST00000373600.3 + 8 882 c.667G>A c.(667-669)Ggt>Agt p.G223S NEK6_ENST00000373603.1_Missense_Mutation_p.G189S|NEK6_ENST00000546191.1_Missense_Mutation_p.G189S|NEK6_ENST00000540326.1_Missense_Mutation_p.G207S|NEK6_ENST00000394199.2_Missense_Mutation_p.G223S|NEK6_ENST00000539416.1_Missense_Mutation_p.G214S|NEK6_ENST00000320246.5_Missense_Mutation_p.G189S|NEK6_ENST00000545174.1_Missense_Mutation_p.G189S NM_001145001.2 NP_001138473.1 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 189 Protein kinase. apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 CGTGAAGCTCGGTGACCTTGG 0.632000 7 1113 0 0 1 0 0 CA12 771 broad.mit.edu 37 15 63632565 63632565 + Silent SNP C C A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr15:63632565C>A ENST00000178638.3 - 7 1109 c.669G>T c.(667-669)ggG>ggT p.G223G CA12_ENST00000422263.2_Silent_p.G163G|CA12_ENST00000344366.3_Silent_p.G223G NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII 223 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) TGGTCAGGGACCCCCGGTAGC 0.562000 7 344 8.12818e-05 8.69325e-05 1 1 0 DMD 1756 broad.mit.edu 37 X 31222081 31222081 + Silent SNP T T C rs12690372 byFrequency TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chrX:31222081T>C ENST00000357033.4 - 67 10010 c.9804A>G c.(9802-9804)caA>caG p.Q3268Q DMD_ENST00000474231.1_Silent_p.Q808Q|DMD_ENST00000541735.1_Silent_p.Q808Q|DMD_ENST00000361471.4_Silent_p.Q200Q|DMD_ENST00000378680.2_Silent_p.Q200Q|DMD_ENST00000378723.3_Silent_p.Q200Q|DMD_ENST00000378707.3_Silent_p.Q808Q|DMD_ENST00000378702.4_Silent_p.Q200Q|DMD_ENST00000378677.2_Silent_p.Q3264Q|DMD_ENST00000359836.1_Silent_p.Q808Q|DMD_ENST00000343523.2_Silent_p.Q808Q NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3268 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AACTTACAAATTGGAAGCAGC 0.383000 6 210 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111912 57111912 + Silent SNP G G A rs2926744 TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr12:57111912G>A ENST00000454682.1 - 3 3683 c.3402C>T c.(3400-3402)ccC>ccT p.P1134P NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 9 699 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 5 612 2.74318e-10 3.01448e-10 1 1 0 UBR3 130507 broad.mit.edu 37 2 170814986 170814986 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:170814986C>T ENST00000272793.5 + 24 3634 c.3584C>T c.(3583-3585)gCg>gTg p.A1195V UBR3_ENST00000418381.1_Missense_Mutation_p.A1195V Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1195 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 AAATTGCTTGCGGAGTTTGCT 0.348000 17 507 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21161674 21161674 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:21161674G>A ENST00000255882.6 - 10 1230 c.1144C>T c.(1144-1146)Cgt>Tgt p.R382C PI4KA_ENST00000572273.1_Missense_Mutation_p.R324C NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 324 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) AGAGTGTCACGCAGCATCTTG 0.527000 4 172 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128819 147128819 + Missense_Mutation SNP C C A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:147128819C>A ENST00000282928.4 + 1 1649 c.920C>A c.(919-921)cCt>cAt p.P307H NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 307 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 TGCCCCTTCCCTGGCTGTGGC 0.572000 5 408 0.014758 0.0152933 1 1 0 CD6 923 broad.mit.edu 37 11 60778547 60778547 + Silent SNP C C A rs145393446 TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:60778547C>A ENST00000313421.7 + 6 1276 c.1090C>A c.(1090-1092)Cgg>Agg p.R364R CD6_ENST00000452451.2_Silent_p.R364R|CD6_ENST00000352009.5_Silent_p.R364R|CD6_ENST00000346437.4_Silent_p.R364R|CD6_ENST00000344028.5_Silent_p.R364R|CD6_ENST00000545105.1_3'UTR NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 364 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 GACAGCTTCCCGGAGTTTGCA 0.512000 6 317 0.0215528 0.0222193 1 1 0 ZNF83 55769 broad.mit.edu 37 19 53116885 53116885 + Silent SNP A A G rs7247257 TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:53116885A>G ENST00000597597.1 - 2 3186 c.933T>C c.(931-933)caT>caC p.H311H ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H P51522 ZNF83_HUMAN zinc finger protein 83 311 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TCTCTCCAGTATGAATTCTCC 0.418000 5 617 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_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 6 404 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371436 240371436 + Silent SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:240371436T>C ENST00000319653.9 + 5 3554 c.3324T>C c.(3322-3324)ccT>ccC p.P1108P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1108 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.P1251P(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) TGGGCATACCTCCTCCGCCCC 0.731000 10 269 0 0 1 0 0 CX3CL1 6376 broad.mit.edu 37 16 57415974 57415974 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr16:57415974C>T ENST00000565912.1 + 2 2816 c.110C>T c.(109-111)gCc>gTc p.A37V CX3CL1_ENST00000006053.6_Missense_Mutation_p.A75V|CX3CL1_ENST00000563383.1_Missense_Mutation_p.A81V|CX3CL1_ENST00000564948.1_Missense_Mutation_p.P35S P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 75 Chemokine. cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 CTGTTCTGTGCCGACCCGAAG 0.602000 5 402 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510405 169510405 + Missense_Mutation SNP C C A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:169510405C>A ENST00000367796.3 - 13 4139 c.3938G>T c.(3937-3939)aGt>aTt p.S1313I F5_ENST00000367797.3_Missense_Mutation_p.S1308I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1308 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTTTGTCTGACTGAGTTCTGG 0.512000 8 1722 0.0381472 0.0387282 1 1 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651241 1651241 + Silent SNP A A C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:1651241A>C ENST00000399676.2 + 1 209 c.171A>C c.(169-171)ggA>ggC p.G57G NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 57 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 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) gctgtgggggatgtggctccg 0.682000 12 620 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 9 836 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45159953 45159953 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:45159953G>A ENST00000296129.1 - 2 377 c.243C>T c.(241-243)agC>agT p.S81S CDCP1_ENST00000425231.2_Silent_p.S81S|CDCP1_ENST00000490471.1_5'UTR NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 81 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) GACTCTGGCAGCTAAAGGTAA 0.393000 5 433 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29912345 29912345 + Missense_Mutation SNP A A G rs45480495 byFrequency TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr6:29912345A>G ENST00000396634.1 + 7 1305 c.964A>G c.(964-966)Atc>Gtc p.I322V HLA-A_ENST00000376809.5_Missense_Mutation_p.I322V|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Missense_Mutation_p.I322V P30443 1A01_HUMAN major histocompatibility complex, class I, A 322 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGAGCTGTGATCACTGGAGC 0.587000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 237 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193039478 193039478 + Missense_Mutation SNP G G T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:193039478G>T ENST00000342358.4 - 16 2024 c.1907C>A c.(1906-1908)tCt>tAt p.S636Y NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 636 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.S636F(1) NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) ACCTGTTTCAGATCTGCAGAA 0.463000 5 363 1 1 1 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 5 441 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 5 226 0 0 1 0 0 GNA15 2769 broad.mit.edu 37 19 3151725 3151725 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:3151725G>A ENST00000262958.3 + 4 764 c.506G>A c.(505-507)cGc>cAc p.R169H AC005264.2_ENST00000587587.1_RNA NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 169 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) CACCTGGAGCGCATCACCGAG 0.632000 5 597 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 5 283 0 0 1 0 0 C15orf54 400360 broad.mit.edu 37 15 39544396 39544396 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr15:39544396G>A ENST00000318578.3 + 2 428 c.60G>A c.(58-60)ccG>ccA p.P20P RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 20 p.P20P(1) NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) GGGCTGAGCCGCAAAGAATTT 0.468000 7 1132 0 0 1 0 0 PKNOX2 63876 broad.mit.edu 37 11 125280125 125280125 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:125280125G>A ENST00000298282.9 + 8 893 c.622G>A c.(622-624)Gga>Aga p.G208R PKNOX2_ENST00000542175.1_Missense_Mutation_p.G144R|PKNOX2_ENST00000530517.1_3'UTR NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 208 nucleus sequence-specific DNA binding transcription factor activity p.G208R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) TTCCATGTCCGGAGTCTCCAA 0.572000 6 880 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522727 95522727 + RNA SNP C C A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:95522727C>A ENST00000432432.2 - 0 300 NR_040113.1 p.R64L(2) CTGCTTGTCCCGGGCGTCCAG 0.731000 5 244 1.15088e-07 1.24419e-07 1 1 0 TCHH 7062 broad.mit.edu 37 1 152082631 152082631 + Missense_Mutation SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:152082631C>T ENST00000368804.1 - 2 3061 c.3062G>A c.(3061-3063)cGc>cAc p.R1021H NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1021 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCTTTTTTGCGGTActgcct 0.557000 6 717 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29122723 29122723 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr18:29122723G>A ENST00000261590.8 + 14 2451 c.2242G>A c.(2242-2244)Gca>Aca p.A748T RP11-75N4.2_ENST00000583706.1_RNA NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 748 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CACGAAGACCGCAAGGGCCAC 0.517000 6 569 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238305387 238305387 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:238305387G>A ENST00000295550.4 - 2 526 c.74C>T c.(73-75)gCc>gTc p.A25V COL6A3_ENST00000392004.3_Missense_Mutation_p.A25V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A25V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A25V|COL6A3_ENST00000392003.2_Missense_Mutation_p.A25V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A25V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A25V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A25V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 25 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) CTGCTGCTGGGCATGAGTTGT 0.423000 5 452 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46009639 46009639 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:46009639G>A ENST00000296137.2 - 8 1392 c.1187C>T c.(1186-1188)gCg>gTg p.A396V FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 396 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CTCCTGGGCCGCATCACTGGG 0.567000 10 1100 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14000364 14000364 + Silent SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:14000364G>A ENST00000454313.1 - 6 1363 c.1305C>T c.(1303-1305)tcC>tcT p.S435S C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.S435S|C19orf57_ENST00000586783.1_Silent_p.S435S Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 435 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) ATGCATGACCGGAATCTCCAG 0.622000 5 406 0 0 1 0 0 GLCCI1 113263 broad.mit.edu 37 7 8126004 8126004 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:8126004G>A ENST00000223145.5 + 8 2037 c.1480G>A c.(1480-1482)Gtt>Att p.V494I NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 494 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) AACTCTGACCGTTGAGCAGCT 0.552000 8 1431 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28377973 28377973 + Silent SNP C C T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr15:28377973C>T ENST00000261609.7 - 80 12342 c.12234G>A c.(12232-12234)ccG>ccA p.P4078P NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4078 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGCGGTCACACGGACTGCAAA 0.463000 5 569 0 0 1 0 0 LETM2 137994 broad.mit.edu 37 8 38261966 38261966 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr8:38261966G>A ENST00000379957.4 + 8 1287 c.1160G>A c.(1159-1161)cGc>cAc p.R387H LETM2_ENST00000297720.5_Missense_Mutation_p.R292H|LETM2_ENST00000524874.1_Missense_Mutation_p.R339H|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000523983.2_Missense_Mutation_p.R340H|LETM2_ENST00000527710.1_Missense_Mutation_p.R173H NM_001199659.1 NP_001186588.1 Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane protein 2 387 integral to membrane|mitochondrial inner membrane NS(1)|large_intestine(1)|lung(3)|prostate(2) 7 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) CTCCTGTCCCGCACCTTCTAC 0.557000 6 345 0 0 1 0 0 INTS4L2 0 broad.mit.edu 37 7 65154280 65154280 + RNA SNP G G T rs143921202 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:65154280G>T ENST00000430126.2 + 0 764 AAAGGATTCAGCCAGAGATAT 0.403000 4 83 8.10497e-08 8.80975e-08 1 1 0 PAPSS2 9060 broad.mit.edu 37 10 89503202 89503202 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr10:89503202G>A ENST00000361175.4 + 10 1649 c.1280G>A c.(1279-1281)cGc>cAc p.R427H PAPSS2_ENST00000456849.1_Missense_Mutation_p.R432H|PAPSS2_ENST00000427144.2_Missense_Mutation_p.R431H NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 427 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) GACACTCGCCGCAGGCTCCTA 0.582000 5 474 0 0 1 0 0 ANAPC15 25906 broad.mit.edu 37 11 71821263 71821263 + Missense_Mutation SNP A A T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:71821263A>T ENST00000227618.4 - 5 414 c.189T>A c.(187-189)gaT>gaA p.D63E LRTOMT_ENST00000307198.7_3'UTR|ANAPC15_ENST00000543050.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000542531.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000538393.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000543587.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000502597.2_5'UTR|LRTOMT_ENST00000435085.1_3'UTR|ANAPC15_ENST00000535503.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000535234.1_Missense_Mutation_p.D63E|LRTOMT_ENST00000419228.1_3'UTR|ANAPC15_ENST00000538919.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000545944.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000545680.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000543015.1_5'UTR NM_001278487.1|NM_001278491.1|NM_014042.2 NP_001265416.1|NP_001265420.1|NP_054761.1 anaphase promoting complex subunit 15 cttcctcgtcatcatAGTGCT 0.498000 7 914 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42490359 42490359 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:42490359G>A ENST00000545399.1 - 5 572 c.419C>T c.(418-420)gCg>gTg p.A140V ATP1A3_ENST00000302102.5_Missense_Mutation_p.A127V|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A138V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A97V NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 127 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CACCACGGCCGCCAGCACGAT 0.607000 5 296 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62296070 62296070 + Missense_Mutation SNP A A G TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:62296070A>G ENST00000378024.4 - 5 6093 c.5819T>C c.(5818-5820)gTg>gCg p.V1940A AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1940 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) CGACACATCCACATCCCCTTT 0.502000 8 1301 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544724 23544724 + Missense_Mutation SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:23544724T>C ENST00000300619.7 - 4 1262 c.1057A>G c.(1057-1059)Aaa>Gaa p.K353E ZNF91_ENST00000397082.2_Missense_Mutation_p.K321E|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 353 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K353E(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CCACATTCTTTACATTTGTAG 0.373000 4 284 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 9 751 0 0 1 0 0 FIGN 55137 broad.mit.edu 37 2 164467288 164467288 + Missense_Mutation SNP G G A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:164467288G>A ENST00000333129.3 - 3 1368 c.1054C>T c.(1054-1056)Ccc>Tcc p.P352S FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 352 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CTGTTGTCGGGCATTCTGTAC 0.448000 6 527 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295516 62295516 + Missense_Mutation SNP G G T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:62295516G>T ENST00000378024.4 - 5 6647 c.6373C>A c.(6373-6375)Cac>Aac p.H2125N AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2125 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) CCTTTCAAGTGTAAGTCCACA 0.522000 10 1362 0.014758 0.0152933 1 1 0 IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 10 342 --- --- --- --- CDC7 8317 broad.mit.edu 37 1 91967356 91967357 + Frame_Shift_Ins INS - - A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:91967356_91967357insA ENST00000428239.1 + 2 342_343 c.83_84insA c.(82-84)taafs p.*28fs CDC7_ENST00000430031.2_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.*28fs NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAACG 0.406 10 567 --- --- --- --- NGF 4803 broad.mit.edu 37 1 115828721 115828722 + Frame_Shift_Del DEL CA CA - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:115828721_115828722delCA ENST00000369512.2 - 3 863_864 c.695_696delTG c.(694-696)gfs p.V232fs RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 232 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TCCTGCTGAGCACACACACACA 0.579 7 570 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116648 121116648 + RNA DEL A A - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:121116648delA ENST00000437515.1 - 0 329 GCCCCCCTTTAAAAAAAAAGG 0.398 7 270 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 11 840 --- --- --- --- CAMSAP2 23271 broad.mit.edu 37 1 200822549 200822549 + Frame_Shift_Del DEL A A - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:200822549delA ENST00000358823.2 + 13 4019 c.3749delA c.(3748-3750)cafs p.Q1250fs CAMSAP2_ENST00000236925.4_Frame_Shift_Del_p.Q1261fs|CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.Q1234fs NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 1261 cytoplasm|microtubule protein binding GTAGTAAAACAAAAAAAACAG 0.368 8 375 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 9 440 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000357732.4_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 497 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CTTTTCTTCTATTTTTTTTTCA 0.381 7 423 --- --- --- --- SEPT10 151011 broad.mit.edu 37 2 110301827 110301828 + Frame_Shift_Ins INS - - T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:110301827_110301828insT ENST00000356688.4 - 12 1821_1822 c.1506_1507insA c.(1504-1509)aatagafs p.NR502fs SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000437928.1_3'UTR Q9P0V9 SEP10_HUMAN septin 10 0 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 CACACTTCTAGTTTTTTTTTAA 0.317 7 257 --- --- --- --- COL4A4 1286 broad.mit.edu 37 2 227896886 227896886 + Frame_Shift_Del DEL C C - rs2229812 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr2:227896886delC ENST00000396625.3 - 39 3891 c.3684delG c.(3682-3684)aafs p.K1229fs COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1229 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGGGACCTTTCTTTCCACGAG 0.522 8 552 --- --- --- --- CCR3 1232 broad.mit.edu 37 3 46306948 46306948 + Frame_Shift_Del DEL T T - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:46306948delT ENST00000357422.2 + 4 842 c.299delT c.(298-300)gtfs p.V100fs CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs P51677 CCR3_HUMAN chemokine (C-C motif) receptor 3 100 cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) CATAACTGGGTTTTTGGCCAT 0.488 7 1430 --- --- --- --- USP4 7375 broad.mit.edu 37 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:49321969_49321971delTCT ENST00000351842.4 - 17 2185_2187 c.2177_2179delAGA c.(2176-2181)acc>a p.KT726del USP4_ENST00000265560.4_In_Frame_Del_p.KT773del NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 773 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) GCCACTGTGGTCTTCTTCTTCTT 0.532 9 667 --- --- --- --- RPL24 6152 broad.mit.edu 37 3 101401316 101401316 + Frame_Shift_Del DEL T T - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:101401316delT ENST00000469605.1 - 5 368 c.350delA c.(349-351)agfs p.K117fs RPL24_ENST00000394077.3_Frame_Shift_Del_p.K117fs|RPL24_ENST00000495401.1_Intron P83731 RL24_HUMAN ribosomal protein L24 117 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome large_intestine(1)|lung(2)|urinary_tract(1) 4 TTGCTTAGCCTTTTTTGCTTC 0.368 8 466 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 11 489 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 12 43 --- --- --- --- UGDH 7358 broad.mit.edu 37 4 39515752 39515753 + Frame_Shift_Ins INS - - A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr4:39515752_39515753insA ENST00000316423.6 - 3 556_557 c.214_215insT c.(214-216)tacfs p.Y72fs UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000507089.1_5'UTR NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 72 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity p.S72fs*18(1) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) AATATTGGTAGAAAAAAAAAGA 0.297 10 572 --- --- --- --- NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 333 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AATTCCTACTCCACCACCACCAC 0.522 8 449 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 7 272 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146077123 146077125 + In_Frame_Del DEL CAG CAG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr4:146077123_146077125delCAG ENST00000454497.2 - 8 595_597 c.458_460delCTG c.(457-462)gat>g p.AD153del OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 218 OTU. protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CCATTCACATCAGCAGCAGCAGC 0.340 10 418 --- --- --- --- AP3S1 1176 broad.mit.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - rs80118146 TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr5:115202418_115202421delAAGA ENST00000316788.7 + 2 678_681 c.121_124delAAGA c.(121-126)gafs p.KR41fs NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 41 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) TTTGGTATCTAAGAGAGATGAAAA 0.304 9 255 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 10 1163 --- --- --- --- CSF1R 1436 broad.mit.edu 37 5 149447806 149447808 + In_Frame_Del DEL AGC AGC - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr5:149447806_149447808delAGC ENST00000286301.3 - 11 1887_1889 c.1596_1598delGCT c.(1594-1599)ctc>ct p.LL536del NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 536 L -> V (in dbSNP:rs55942044). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) Tagcagcaggagcagcagcagca 0.596 10 425 --- --- --- --- CPEB4 80315 broad.mit.edu 37 5 173317577 173317577 + Frame_Shift_Del DEL C C - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr5:173317577delC ENST00000265085.5 + 1 2295 c.841delC c.(841-843)ccfs p.P282fs CPEB4_ENST00000519835.1_Frame_Shift_Del_p.P282fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.P282fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.P282fs NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 282 nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCTTAACAAACCCCCCTCTCC 0.577 7 1733 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34826124 34826124 + Frame_Shift_Del DEL T T - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr6:34826124delT ENST00000192788.5 + 14 2162 c.1991delT c.(1990-1992)ctfs p.L664fs UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 664 p.L666fs*15(1) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CTGCACATGCTTTTTTTGCAT 0.502 7 641 --- --- --- --- KIAA1009 22832 broad.mit.edu 37 6 84896233 84896233 + Frame_Shift_Del DEL A A - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr6:84896233delA ENST00000403245.3 - 12 1332 c.1218delT c.(1216-1218)ttfs p.F406fs KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.F330fs NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 406 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CATTTTTGTCAAAAAAAAGGT 0.358 9 544 --- --- --- --- KIAA1919 91749 broad.mit.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr6:111587361delT ENST00000368847.4 + 4 949 c.596delT c.(595-597)atfs p.I199fs NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 199 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GTTTCTGTCATTTTTTTTTGT 0.368 9 222 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 7 814 --- --- --- --- PPP1R17 10842 broad.mit.edu 37 7 31735178 31735179 + Frame_Shift_Ins INS - - A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:31735178_31735179insA ENST00000342032.3 + 3 806_807 c.178_179insA c.(178-180)aaafs p.K60fs PPP1R17_ENST00000409146.3_Intron NM_006658.4 NP_006649.2 O96001 GSUB_HUMAN protein phosphatase 1, regulatory subunit 17 60 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction TGAGTCAGACCAAAAAAAACCA 0.436 8 669 --- --- --- --- INHBA 3624 broad.mit.edu 37 7 41729741 41729743 + In_Frame_Del DEL TTC TTC - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:41729741_41729743delTTC ENST00000242208.4 - 3 1032_1034 c.786_788delGAA c.(784-789)aaa>aa p.KK262del AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|INHBA_ENST00000464515.1_5'UTR NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 262 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ctcctcttctttcttcttcttct 0.581 TSP Lung(11;0.080) 7 225 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150814 65150815 + RNA INS - - C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:65150814_65150815insC ENST00000430126.2 + 0 757 TCTTCATCCCTCACCCCCCCCC 0.460 7 90 --- --- --- --- PCLO 27445 broad.mit.edu 37 7 82595385 82595385 + Frame_Shift_Del DEL T T - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:82595385delT ENST00000423517.2 - 4 4056 c.3719delA c.(3718-3720)agfs p.K1240fs PCLO_ENST00000333891.8_Frame_Shift_Del_p.K1240fs NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1179 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGGGGTTGGCTTTTTTTCTTC 0.383 7 1501 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:100479332delG ENST00000388793.4 + 4 524 c.304delG c.(304-306)ggfs p.G106fs SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs|SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 106 G -> GG (in Ref. 3; CAB46374). cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104fs*45(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GCCCTATGCTGGGGGGGGTGG 0.607 7 308 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 8 18 --- --- --- --- TRBV6-5 0 broad.mit.edu 37 7 142180819 142180821 + RNA DEL AGG AGG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr7:142180819_142180821delAGG ENST00000390368.2 - 0 115 CCTGCAGAGAAGGAGAACAAAGC 0.557 26 336 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr8:6289099delA ENST00000344683.5 + 4 389 c.313delA c.(313-315)aafs p.K107fs MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 107 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AAGCCTAATTAAAAAAAAAGT 0.274 8 402 --- --- --- --- TERF1 7013 broad.mit.edu 37 8 73921284 73921286 + In_Frame_Del DEL GAG GAG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr8:73921284_73921286delGAG ENST00000276602.6 + 1 186_188 c.163_165delGAG c.(163-165)del p.E62del TERF1_ENST00000276603.5_In_Frame_Del_p.E62del NM_003218.3 NP_003209.2 P54274 TERF1_HUMAN telomeric repeat binding factor (NIMA-interacting) 1 62 Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Breast(64;0.218) Epithelial(68;0.0984) GGGGGCCCCCgaggaggaggagg 0.650 7 101 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 9 1127 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633025 32633025 + Frame_Shift_Del DEL T T - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr9:32633025delT ENST00000242310.4 - 1 2642 c.2553delA c.(2551-2553)aafs p.K851fs NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 851 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AAGGAAAGGCTTTTTTTATAT 0.443 7 735 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 8 126 --- --- --- --- FKBP15 23307 broad.mit.edu 37 9 115969556 115969556 + Frame_Shift_Del DEL T T - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr9:115969556delT ENST00000238256.3 - 3 307 c.190delA c.(190-192)cafs p.T64fs FKBP15_ENST00000493847.1_5'UTR NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 64 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 GCTGGTGCTGTTTTTGGTGTT 0.418 7 1455 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 11 367 --- --- --- --- EGR2 1959 broad.mit.edu 37 10 64573471 64573473 + In_Frame_Del DEL GGC GGC - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr10:64573471_64573473delGGC ENST00000242480.3 - 2 1250_1252 c.925_927delGCC c.(925-927)del p.A309del EGR2_ENST00000439032.1_In_Frame_Del_p.A309del|EGR2_ENST00000411732.1_In_Frame_Del_p.A259del NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 309 Poly-Ala. fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) GTGGGTTATAGGCGGCGGCGGCG 0.704 7 309 --- --- --- --- KIF20B 9585 broad.mit.edu 37 10 91498335 91498337 + In_Frame_Del DEL AAG AAG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr10:91498335_91498337delAAG ENST00000416354.1 + 20 3899_3901 c.3827_3829delAAG c.(3826-3831)aaa>a p.KE1276del KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_In_Frame_Del_p.KE1246del|KIF20B_ENST00000260753.4_In_Frame_Del_p.KE1206del|KIF20B_ENST00000394289.2_In_Frame_Del_p.KE1246del Q96Q89 KI20B_HUMAN kinesin family member 20B 1246 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 CTTCAATTAAAAGAAGAAGAAGA 0.276 7 225 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 13 1143 --- --- --- --- PDZD7 79955 broad.mit.edu 37 10 102789811 102789811 + Frame_Shift_Del DEL G G - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr10:102789811delG ENST00000370215.3 - 2 391 c.166delC c.(166-168)gcfs p.R56fs PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 56 cilium|nucleus protein binding p.R56C(1) 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) CGGATTCCGCGGGGGGGCCCG 0.667 10 714 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr10:105727547_105727549delAGA ENST00000369755.3 + 1 589_591 c.44_46delAGA c.(43-48)gag>g p.EK15del SLK_ENST00000335753.4_In_Frame_Del_p.EK15del NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 15 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGGGGAGCGAGAAGAAGAAGAA 0.448 8 570 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 7 797 --- --- --- --- DUSP8 1850 broad.mit.edu 37 11 1586979 1586979 + Frame_Shift_Del DEL C C - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:1586979delC ENST00000397374.3 - 2 205 c.78delG c.(76-78)ggfs p.G26fs DUSP8_ENST00000331588.4_Frame_Shift_Del_p.G26fs NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 26 Rhodanese. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) TGACCAGCGGCCCCCCAGGCC 0.667 7 1187 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63149668 63149669 + Frame_Shift_Ins INS - - A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:63149668_63149669insA ENST00000279178.3 + 6 1241_1242 c.992_993insA c.(991-993)gcafs p.A331fs SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 331 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTGGAGGCAGCACAAAAAAAAA 0.406 10 630 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 7 306 --- --- --- --- NFRKB 4798 broad.mit.edu 37 11 129752496 129752496 + Frame_Shift_Del DEL T T - rs149369172 TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr11:129752496delT ENST00000446488.3 - 9 1035 c.932delA c.(931-933)agfs p.K311fs NFRKB_ENST00000524794.1_Frame_Shift_Del_p.K336fs|NFRKB_ENST00000524746.1_Frame_Shift_Del_p.K311fs|NFRKB_ENST00000304521.5_Frame_Shift_Del_p.K311fs NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 311 Lys-rich. DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TTCCTTAACCTTTTTTTTAAG 0.438 7 374 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 14 85 --- --- --- --- HECTD4 283450 broad.mit.edu 37 12 112600860 112600860 + Frame_Shift_Del DEL G G - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr12:112600860delG ENST00000550722.1 - 75 13063 c.12668delC c.(12667-12669)cafs p.P4223fs HECTD4_ENST00000430131.2_Frame_Shift_Del_p.P3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.P4197fs NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGTGCCATCTGGGGGGGCGAT 0.627 7 828 --- --- --- --- SBNO1 55206 broad.mit.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr12:123794283delT ENST00000420886.2 - 25 3415 c.3416delA c.(3415-3417)atfs p.N1139fs SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1139 ATP binding|DNA binding|hydrolase activity p.N1138fs*9(1) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATATCTTCCATTTTTTTTGGC 0.388 9 557 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27255386 27255387 + Frame_Shift_Ins INS - - C rs141429361 TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr13:27255386_27255387insC ENST00000361042.4 + 8 1128_1129 c.903_904insC c.(901-906)ccccccfs p.PP301fs WASF3_ENST00000335327.5_Frame_Shift_Ins_p.PP304fs Q9UPY6 WASF3_HUMAN WAS protein family, member 3 304 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CTCAGCAGCCGCCCCCCCCGCC 0.678 7 495 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr13:60582733_60582734insT ENST00000400324.4 - 9 1178_1179 c.958_959insA c.(958-960)tgafs p.*320fs DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 320 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAATCTGTCAATTTTTTTTTCT 0.322 10 594 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr13:108518687_108518689delCTG ENST00000375915.2 - 1 394_396 c.256_258delCAG c.(256-258)del p.Q86del NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 15 197 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr14:74205926_74205928delCTG ENST00000286523.5 - 2 1566_1568 c.784_786delCAG c.(784-786)del p.Q262del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GTAGGgctgcctgctgctgctgc 0.650 11 171 --- --- --- --- AVEN 57099 broad.mit.edu 37 15 34163233 34163234 + Splice_Site DEL TA TA - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr15:34163233_34163234delTA ENST00000306730.3 - 4 646 c.e4-2 AVEN_ENST00000558136.1_Splice_Site NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) TGCTGAATTCtatatatatata 0.371 8 104 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 7 940 --- --- --- --- RMDN3 55177 broad.mit.edu 37 15 41029893 41029894 + Frame_Shift_Ins INS - - T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr15:41029893_41029894insT ENST00000260385.6 - 9 2223_2224 c.1156_1157insA c.(1156-1158)tgcfs p.C386fs RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs regulator of microtubule dynamics 3 GGCTGTAGCAGTTTTTTTTTCT 0.450 7 364 --- --- --- --- ZNF106 64397 broad.mit.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr15:42742957delA ENST00000263805.4 - 2 1770 c.1444delT c.(1444-1446)ccfs p.S482fs ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TCTCCAGGGGAAAAAAAATTT 0.393 12 1053 --- --- --- --- THSD4 79875 broad.mit.edu 37 15 72021022 72021022 + Frame_Shift_Del DEL T T - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr15:72021022delT ENST00000355327.3 + 9 1626 c.1492delT c.(1492-1494)ttfs p.F498fs THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Frame_Shift_Del_p.F138fs|THSD4_ENST00000261862.6_Frame_Shift_Del_p.F498fs Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 498 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CGGAGAGTCCTTTTTGGCGGA 0.483 7 1211 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 14 124 --- --- --- --- TVP23A 780776 broad.mit.edu 37 16 10867202 10867203 + Frame_Shift_Ins INS - - A TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr16:10867202_10867203insA ENST00000299866.8 - 5 711_712 c.420_421insT c.(418-423)ttgcacfs p.LH140fs TVP23A_ENST00000572980.1_5'UTR NM_001079512.2 NP_001072980.1 trans-golgi network vesicle protein 23 homolog A (S. cerevisiae) AATAAGGTGCTAAAAAAAAACA 0.446 8 322 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 13 524 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 12 9 --- --- --- --- BCL6B 255877 broad.mit.edu 37 17 6927858 6927858 + Frame_Shift_Del DEL C C - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr17:6927858delC ENST00000293805.5 + 4 632 c.540delC c.(538-540)ggfs p.G180fs BCL6B_ENST00000572216.1_3'UTR NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 180 Pro-rich. nucleus zinc ion binding p.S183fs*6(1) skin(1) 1 GCAGTCAAGGCCCCCCCAGTC 0.617 8 1030 --- --- --- --- PER1 5187 broad.mit.edu 37 17 8049759 8049761 + In_Frame_Del DEL AGG AGG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr17:8049759_8049761delAGG ENST00000317276.4 - 16 2204_2206 c.1967_1969delCCT c.(1966-1971)tat>t p.SY656del PER1_ENST00000354903.5_In_Frame_Del_p.SY640del|PER1_ENST00000581082.1_In_Frame_Del_p.SY636del|PER1_ENST00000578089.1_5'UTR NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 656 CSNK1E binding domain (By similarity).|Poly-Ser. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GAGGTGGTATAGGAGGAGGAGGA 0.586 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 7 476 --- --- --- --- AC005863.1 0 broad.mit.edu 37 17 14673542 14673543 + RNA INS - - T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr17:14673542_14673543insT ENST00000379640.1 - 0 354_355 GCTGGTCCCAGTTTTTTTTTCT 0.450 10 269 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 8 229 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028117 55028118 + Frame_Shift_Ins INS - - T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr17:55028117_55028118insT ENST00000240316.4 - 2 519_520 c.485_486insA c.(484-486)aaafs p.K162fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 162 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) TTTTTCTCTTGTTTTTTTTGCT 0.366 11 570 --- --- --- --- ITGB4 3691 broad.mit.edu 37 17 73732157 73732158 + Frame_Shift_Del DEL GT GT - rs121912463 TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr17:73732157_73732158delGT ENST00000200181.3 + 14 1870_1871 c.1683_1684delGT c.(1681-1686)cagtfs p.QC561fs ITGB4_ENST00000449880.2_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000579662.1_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.QC561fs|ITGB4_ENST00000339591.3_Frame_Shift_Del_p.QC561fs NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 561 Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCATGGGCCAGTGTGTGTGTGA 0.604 9 828 --- --- --- --- ZADH2 284273 broad.mit.edu 37 18 72913980 72913980 + Frame_Shift_Del DEL T T - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr18:72913980delT ENST00000322342.3 - 2 814 c.525delA c.(523-525)aafs p.K175fs ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 175 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) TCACCAAAACTTTTTTCCCTT 0.517 7 2432 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 8 205 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20634038 20634039 + RNA DEL TG TG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:20634038_20634039delTG ENST00000598131.1 + 0 160 TTAGTAAAAATGTGTGTGTGTG 0.401 25 165 --- --- --- --- NUCB1 4924 broad.mit.edu 37 19 49425109 49425111 + In_Frame_Del DEL AGC AGC - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:49425109_49425111delAGC ENST00000405315.4 + 12 1533_1535 c.1199_1201delAGC c.(1198-1203)aag>a p.KQ400del NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 400 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) Gagcagcggaagcagcagcagca 0.640 8 239 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 13 327 --- --- --- --- APP 351 broad.mit.edu 37 21 27394182 27394184 + In_Frame_Del DEL GTG GTG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr21:27394182_27394184delGTG ENST00000358918.3 - 6 1036_1038 c.837_839delCAC c.(835-840)aca>ac p.TT279del APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 279 Poly-Thr. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) CACAGACTCTgtggtggtggtgg 0.522 9 194 --- --- --- --- ZNRF3 84133 broad.mit.edu 37 22 29445819 29445821 + In_Frame_Del DEL CAG CAG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:29445819_29445821delCAG ENST00000544604.2 + 8 1825_1827 c.1650_1652delCAG c.(1648-1653)gac>ga p.DS550del ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del|ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 550 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CAGgcagcgacagcagcagcagc 0.660 8 233 --- --- --- --- GAS2L1 10634 broad.mit.edu 37 22 29708273 29708273 + Frame_Shift_Del DEL G G - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:29708273delG ENST00000406549.3 + 6 1302 c.1152delG c.(1150-1152)atfs p.M384fs GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 393 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 GCCCTGGCATGGGGGGGCCAC 0.677 7 455 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:36689419_36689421delCCT ENST00000216181.5 - 30 4279_4281 c.4049_4051delAGG c.(4048-4053)gcc>g p.EA1350del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1350 E -> EE (in Ref. 7). actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGTGCTTGGCCTCCTCCTCCTC 0.650 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 9 511 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 13 796 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42898666 42898666 + RNA DEL C C - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:42898666delC ENST00000359906.2 + 0 409 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 CCATATGGTGCCCCCCCCCCA 0.592 8 92 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 10 778 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 502 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AAGCcagcaacagcagcagcagc 0.532 9 197 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 7 720 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ac05724b-42c0-4cb3-806b-aadc13554d38 db4aed26-55eb-44b7-91d4-d8c50b9ccce3 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 15 337 --- --- --- ---