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 MYOZ2 51778 broad.mit.edu 37 4 120079300 120079300 + Missense_Mutation SNP G G T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr4:120079300G>T ENST00000307128.5 + 4 583 c.370G>T c.(370-372)Gct>Tct p.A124S NM_016599.4 NP_057683.1 Q9NPC6 MYOZ2_HUMAN myozenin 2 124 protein phosphatase 2B binding endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 AGACAACATTGCTCCAGGTAA 0.438000 5 346 0.000602214 0.000617207 1 1 0 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 7 99 0 0 1 0 0 FAM71F1 84691 broad.mit.edu 37 7 128363345 128363345 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:128363345C>T ENST00000315184.5 + 4 835 c.782C>T c.(781-783)gCc>gTc p.A261V FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V|FAM71F1_ENST00000469348.1_3'UTR NM_032599.2 NP_115988.1 Q96KD3 F71F1_HUMAN family with sequence similarity 71, member F1 261 p.A261V(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 CAGATTTTTGCCGACTTACAC 0.502000 6 411 0 0 1 0 0 ADARB1 104 broad.mit.edu 37 21 46596475 46596475 + Missense_Mutation SNP C C T rs142476560 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr21:46596475C>T ENST00000539173.1 + 4 1294 c.859C>T c.(859-861)Cgg>Tgg p.R287W ADARB1_ENST00000360697.3_Missense_Mutation_p.R287W|ADARB1_ENST00000389863.4_Missense_Mutation_p.R287W|ADARB1_ENST00000348831.4_Missense_Mutation_p.R287W|ADARB1_ENST00000437626.1_Intron NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 287 DRBM 2. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) TGCCAAGGCCCGGGCTGCGCA 0.572000 86 230 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T T C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:3649787T>C ENST00000382622.3 + 2 481 c.91T>C c.(91-93)Tcc>Ccc p.S31P PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 31 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652000 15 183 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5244288 5244288 + Silent SNP G G A rs144956737 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:5244288G>A ENST00000372412.4 - 11 1430 c.1197C>T c.(1195-1197)taC>taT p.Y399Y PTPRS_ENST00000353284.2_Silent_p.Y385Y|PTPRS_ENST00000262963.6_Silent_p.Y394Y|PTPRS_ENST00000357368.4_Silent_p.Y398Y|PTPRS_ENST00000587303.1_Silent_p.Y398Y|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.Y385Y|PTPRS_ENST00000592099.1_Silent_p.Y385Y|PTPRS_ENST00000348075.2_Silent_p.Y385Y Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 398 Fibronectin type-III 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CCCAGATCTCGTACTCCGAGT 0.637000 63 204 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 13 362 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4188979 4188979 + Silent SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:4188979C>T ENST00000404826.2 + 30 4648 c.4509C>T c.(4507-4509)agC>agT p.S1503S SDK1_ENST00000389531.3_Silent_p.S1503S NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1503 Fibronectin type-III 9. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCCCGGGCAGCGACGGGGCCT 0.677000 10 50 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 7 263 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175105027 175105027 + Missense_Mutation SNP G G T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:175105027G>T ENST00000239462.4 + 16 3490 c.3377G>T c.(3376-3378)tGg>tTg p.W1126L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1126 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.W1126*(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TTCAAGCGATGGAGGAGCTAT 0.537000 105 394 1.14936e-50 1.26738e-50 1 1 0 NRG1 3084 broad.mit.edu 37 8 32505842 32505842 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr8:32505842G>A ENST00000520502.2 + 1 606 c.606G>A c.(604-606)acG>acA p.T202T NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000356819.4_Intron NM_013959.3 NP_039253.1 Q02297 NRG1_HUMAN neuregulin 1 463 EGF-like. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) AGGTGAGAACGCCCAAGTCAG 0.493000 50 157 0 0 1 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84705713 84705713 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr15:84705713G>A ENST00000286744.5 + 29 5167 c.4943G>A c.(4942-4944)cGg>cAg p.R1648Q ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1648Q NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1648 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) ATTTCCTGGCGGCACTGTCTT 0.527000 47 163 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42457994 42457994 + Silent SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr15:42457994C>T ENST00000318006.5 - 17 1863 c.1701G>A c.(1699-1701)ccG>ccA p.P567P VPS39_ENST00000348544.4_Silent_p.P578P NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 578 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) ACTCCACTTCCGGGAGATCTT 0.473000 4 286 0 0 1 0 0 NPIPB11 728888 broad.mit.edu 37 16 29415043 29415043 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr16:29415043G>A ENST00000524087.1 - 2 155 c.81C>T c.(79-81)caC>caT p.H27H SNX29P2_ENST00000398878.3_lincRNA nuclear pore complex interacting protein family, member B11 p.H27H(24) CTGACTTTACGTGCTGCTGCA 0.577000 5 70 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227659846 227659846 + Silent SNP T T G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:227659846T>G ENST00000305123.4 - 1 4629 c.3609A>C c.(3607-3609)ccA>ccC p.P1203P IRS1_ENST00000498335.1_5'UTR NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 1203 Pro-rich. 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) GGGGTGGGGGTGGGGGAGGCT 0.582000 8 138 0 0 1 0 0 PCDHA3 0 broad.mit.edu 37 5 140182409 140182409 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr5:140182409C>T ENST00000522353.2 + 1 1627 c.1627C>T c.(1627-1629)Ccg>Tcg p.P543S PCDHA3_ENST00000532566.2_Missense_Mutation_p.P543S|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGGGCGTGCCGCCTCTGGG 0.682000 6 607 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33291973 33291973 + Nonsense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr14:33291973C>T ENST00000280979.4 + 13 5124 c.4954C>T c.(4954-4956)Cga>Tga p.R1652* AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1652 Ser-rich. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AAAGATAAAACGAAGTGTTTC 0.418000 55 216 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926586 157926586 + Missense_Mutation SNP C C T rs142388788 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:157926586C>T ENST00000389413.3 - 9 1442 c.1339G>A c.(1339-1341)Gtc>Atc p.V447I PTPRN2_ENST00000389416.4_Missense_Mutation_p.V430I|PTPRN2_ENST00000409483.1_Missense_Mutation_p.V409I|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V470I|PTPRN2_ENST00000389418.4_Missense_Mutation_p.V447I NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 447 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TGGCTCTTGACGTTCTCCACT 0.612000 123 483 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25193885 25193885 + Silent SNP T T C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr8:25193885T>C ENST00000276440.7 + 22 2367 c.2323T>C c.(2323-2325)Ttg>Ctg p.L775L NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 775 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) AGTGCTCTACTTGAGGTAATG 0.448000 19 94 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 9 290 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167489122 167489122 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr5:167489122G>A ENST00000519204.1 + 6 1122 c.1004G>A c.(1003-1005)cGg>cAg p.R335Q TENM2_ENST00000518659.1_Missense_Mutation_p.R456Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R224Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R289Q|TENM2_ENST00000545108.1_Missense_Mutation_p.R456Q teneurin transmembrane protein 2 GTTGGTCGGCGGGTAACACAA 0.468000 37 123 0 0 1 0 0 VSIG1 340547 broad.mit.edu 37 X 107316507 107316507 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:107316507G>A ENST00000415430.3 + 6 865 c.704G>A c.(703-705)gGa>gAa p.G235E VSIG1_ENST00000217957.5_Missense_Mutation_p.G199E NM_001170553.1 NP_001164024.1 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 199 integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 TTGGTCATTGGAAATCTGACA 0.418000 194 1011 0 0 1 0 0 FSCN1 6624 broad.mit.edu 37 7 5644983 5644983 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:5644983G>A ENST00000382361.3 + 5 1474 c.1360G>A c.(1360-1362)Gag>Aag p.E454K FSCN1_ENST00000340250.6_Missense_Mutation_p.E433K NM_003088.3 NP_003079.1 Q16658 FSCN1_HUMAN fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 454 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) CTTCTTCTTCGAGTTCTGCGA 0.617000 45 157 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 9 229 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42530405 42530405 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr18:42530405G>A ENST00000282030.5 + 4 1396 c.1100G>A c.(1099-1101)gGg>gAg p.G367E NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 367 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AATACAGAAGGGAAAAGGGAA 0.448000 Schinzel-Giedion syndrome 61 173 0 0 1 0 0 LDB2 9079 broad.mit.edu 37 4 16504411 16504411 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr4:16504411G>A ENST00000304523.5 - 8 1300 c.977C>T c.(976-978)aCg>aTg p.T326M LDB2_ENST00000441778.2_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.T324M NM_001290.3 NP_001281.1 O43679 LDB2_HUMAN LIM domain binding 2 326 LIM-binding domain (LID) (By similarity). LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 ATCATATTGCGTGTTTTCTAA 0.537000 125 508 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33237860 33237860 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:33237860G>A ENST00000401073.2 + 6 3150 c.3080G>A c.(3079-3081)cGc>cAc p.R1027H KIAA1522_ENST00000373480.1_Missense_Mutation_p.R968H|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R979H|KIAA1522_ENST00000294521.3_Intron NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 968 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCTGTGGCCCGCAAGCCGTCT 0.662000 4 177 0 0 1 0 0 SIAH3 283514 broad.mit.edu 37 13 46357678 46357678 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr13:46357678G>A ENST00000400405.2 - 2 756 c.650C>T c.(649-651)aCg>aTg p.T217M NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 217 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 AGACCGGGGCGTGGCCTCCCA 0.612000 37 167 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43552730 43552730 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 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 59 452 0 0 1 0 0 PDHA2 5161 broad.mit.edu 37 4 96762066 96762066 + Missense_Mutation SNP G G T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr4:96762066G>T ENST00000295266.4 + 1 828 c.765G>T c.(763-765)atG>atT p.M255I NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 255 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TCGATGGAATGGATGTTCTGT 0.463000 48 171 6.68952e-21 7.15286e-21 1 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3673686 3673686 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr20:3673686C>T ENST00000344754.4 - 14 3600 c.3601G>A c.(3601-3603)Gcc>Acc p.A1201T SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1201T NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1201 Ig-like C2-type 12. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GCCAGCTGGGCGGGCGGGCGG 0.721000 48 103 0 0 1 0 0 WIPI2 26100 broad.mit.edu 37 7 5232787 5232787 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:5232787G>A ENST00000288828.4 + 2 345 c.113G>A c.(112-114)cGt>cAt p.R38H WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000382384.2_Intron|WIPI2_ENST00000404704.3_Missense_Mutation_p.R38H NM_001033518.1|NM_001278299.1|NM_015610.3 NP_001028690.1|NP_001265228.1|NP_056425.1 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 38 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) GGTCTTGGCCGTCGCGCTGTT 0.388000 97 376 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:203821508C>G ENST00000545588.1 + 17 6241 c.2414C>G c.(2413-2415)tCa>tGa p.S805* ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805* NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 805 nucleic acid binding|protein binding|zinc ion binding p.S805*(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTGAGCTATCAGAAATGATT 0.378000 4 198 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21080832 21080832 + Silent SNP T T A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr16:21080832T>A ENST00000261383.3 - 23 3284 c.3285A>T c.(3283-3285)ccA>ccT p.P1095P DNAH3_ENST00000415178.1_Silent_p.P1095P NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1095 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AACTGAAGATTGGTTCCAGGT 0.433000 9 628 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698262 195698262 + RNA SNP C C G rs28503679 by1000genomes TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:195698262C>G ENST00000427841.1 - 0 1610 NR_003264.2 AATTTGTCAACATTCGTGACA 0.418000 8 236 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40027359 40027359 + Missense_Mutation SNP A A C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:40027359A>C ENST00000181839.4 + 2 1978 c.1373A>C c.(1372-1374)aAa>aCa p.K458T CDK13_ENST00000340829.5_Missense_Mutation_p.K458T NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 458 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 AAGAATAAAAAagcacgagca 0.488000 4 226 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6138548 6138548 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:6138548C>T ENST00000261405.5 - 22 3181 c.2927G>A c.(2926-2928)cGc>cAc p.R976H NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 976 VWFD 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCTCAGGTGGCGGTCCCAGAC 0.557000 75 245 0 0 1 0 0 FDPS 2224 broad.mit.edu 37 1 155289625 155289625 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:155289625G>A ENST00000356657.6 + 10 1127 c.965G>A c.(964-966)gGc>gAc p.G322D FDPS_ENST00000368356.4_Missense_Mutation_p.G322D|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000447866.1_Missense_Mutation_p.G256D NM_001135821.1 NP_001129293.1 P14324 FPPS_HUMAN farnesyl diphosphate synthase 322 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) AGTGTGACCGGCAAAATTGGC 0.567000 7 584 0 0 1 0 0 GPI 2821 broad.mit.edu 37 19 34884838 34884838 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:34884838C>T ENST00000415930.3 + 12 1132 c.962C>T c.(961-963)aCg>aTg p.T321M GPI_ENST00000586425.1_Missense_Mutation_p.T310M|GPI_ENST00000356487.5_Missense_Mutation_p.T310M NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 310 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) TTCCGCACGACGCCCCTGGAG 0.627000 146 634 0 0 1 0 0 NR0B1 190 broad.mit.edu 37 X 30327066 30327066 + Missense_Mutation SNP G G C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:30327066G>C ENST00000378970.4 - 1 649 c.415C>G c.(415-417)Cac>Gac p.H139D NR0B1_ENST00000453287.1_Missense_Mutation_p.H139D NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 139 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) TGCCGCGGGTGGTCTTCACCA 0.692000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 135 0 0 1 0 0 MBD2 8932 broad.mit.edu 37 18 51691000 51691000 + Silent SNP C C A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr18:51691000C>A ENST00000256429.3 - 5 1230 c.1002G>T c.(1000-1002)gcG>gcT p.A334A NM_003927.4 NP_003918.1 Q9UBB5 MBD2_HUMAN methyl-CpG binding domain protein 2 334 transcription, DNA-dependent C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188) Hexobarbital(DB01355) CTGTGATTGGCGCAGAGCTTG 0.473000 4 216 1 1 1 1 0 ENO1 2023 broad.mit.edu 37 1 8926458 8926458 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:8926458G>A ENST00000234590.4 - 7 666 c.547C>T c.(547-549)Cgc>Tgc p.R183C NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) 183 Required for repression of c-myc promoter activity. gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GCTCCAATGCGCATGGCTTCC 0.512000 6 452 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 6 437 0 0 1 0 0 TAAR8 83551 broad.mit.edu 37 6 132874742 132874742 + Missense_Mutation SNP C C A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr6:132874742C>A ENST00000275200.1 + 1 911 c.911C>A c.(910-912)gCc>gAc p.A304D NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 304 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) TATAACTCAGCCATGAATCCT 0.343000 6 630 0.00198382 0.00201647 1 1 0 SACS 26278 broad.mit.edu 37 13 23912096 23912096 + Missense_Mutation SNP T T G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr13:23912096T>G ENST00000382298.3 - 10 6507 c.5919A>C c.(5917-5919)aaA>aaC p.K1973N SACS_ENST00000402364.1_Missense_Mutation_p.K1223N|SACS_ENST00000382292.3_Missense_Mutation_p.K1973N NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1973 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGGTCAGTTCTTTCCCTTTTC 0.363000 39 221 0 0 1 0 0 ABAT 18 broad.mit.edu 37 16 8858595 8858595 + Splice_Site SNP G G T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr16:8858595G>T ENST00000396600.2 + 8 1386 c.447_splice c.e8-1 p.V150_splice ABAT_ENST00000268251.8_Splice_Site_p.V150_splice|ABAT_ENST00000569156.1_Splice_Site_p.V150_splice|ABAT_ENST00000425191.2_Splice_Site_p.V150_splice|ABAT_ENST00000567812.1_Splice_Site_p.V165_splice NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 150 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) CTCCCCACAGGTGGCTCCCAA 0.597000 8 275 0.0381472 0.0386163 1 1 0 HECTD4 283450 broad.mit.edu 37 12 112642327 112642327 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:112642327G>A ENST00000550722.1 - 53 8189 c.7794C>T c.(7792-7794)gaC>gaT p.D2598D HECTD4_ENST00000377560.5_Silent_p.D2572D|HECTD4_ENST00000430131.2_Silent_p.D2322D NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGTTTGCTTCGTCTTTAATGT 0.398000 17 171 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156590194 156590194 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr5:156590194G>A ENST00000302938.4 - 2 1177 c.1082C>T c.(1081-1083)gCg>gTg p.A361V NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 361 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGCGGCCCCCGCCATCGAGGT 0.567000 49 199 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083671 17083671 + RNA SNP C C G rs1057420 by1000genomes TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:17083671C>G ENST00000455405.2 - 0 917 aagtcttGTCCTTGACTGTAC 0.403000 29 137 0 0 1 0 0 MORF4L1 10933 broad.mit.edu 37 15 79186408 79186408 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr15:79186408C>T ENST00000331268.5 + 11 959 c.755C>T c.(754-756)gCg>gTg p.A252V MORF4L1_ENST00000558746.1_Missense_Mutation_p.A186V|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A125V|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A213V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A238V|MORF4L1_ENST00000559345.1_Missense_Mutation_p.A125V NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 252 Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 AGGGAGTATGCGGTTAATGAA 0.333000 7 508 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 108051434 108051434 + Missense_Mutation SNP G G T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:108051434G>T ENST00000280758.5 + 17 3782 c.3254G>T c.(3253-3255)aGg>aTg p.R1085M BTBD11_ENST00000357167.4_Missense_Mutation_p.R622M|BTBD11_ENST00000420571.2_Missense_Mutation_p.R966M|BTBD11_ENST00000494235.2_Missense_Mutation_p.R164M NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 1085 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GACTTACAGAGGACGTTGGCC 0.493000 38 181 6.86731e-36 7.50542e-36 1 1 0 KCND1 3750 broad.mit.edu 37 X 48819916 48819916 + Missense_Mutation SNP C C T rs145016539 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:48819916C>T ENST00000218176.3 - 6 3167 c.1870G>A c.(1870-1872)Ggc>Agc p.G624S KCND1_ENST00000376477.1_Missense_Mutation_p.G247S NM_004979.4 NP_004970.3 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 1 624 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 AGGGTGCTGCCGGCCCTGCCA 0.632000 24 84 0 0 1 0 0 LPCAT3 10162 broad.mit.edu 37 12 7086376 7086376 + Missense_Mutation SNP G G C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:7086376G>C ENST00000261407.4 - 12 1481 c.1396C>G c.(1396-1398)Cta>Gta p.L466V U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR NM_005768.5 NP_005759.4 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 466 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 17 AATATGAATAGTAGGCTCAGG 0.418000 62 158 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5462461 5462461 + Missense_Mutation SNP G G A rs115148889 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr11:5462461G>A ENST00000380211.1 - 1 283 c.284C>T c.(283-285)gCg>gTg p.A95V HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCATTAAACGCAACATGGTT 0.458000 52 153 0 0 1 0 0 DNASE1 1773 broad.mit.edu 37 16 3706107 3706107 + Missense_Mutation SNP G G A rs140530129 by1000genomes TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr16:3706107G>A ENST00000246949.5 + 4 3450 c.241G>A c.(241-243)Gca>Aca p.A81T DNASE1_ENST00000407479.1_Missense_Mutation_p.A81T|DNASE1_ENST00000414110.2_Start_Codon_SNP_p.M1I NM_005223.3 NP_005214.2 P24855 DNAS1_HUMAN deoxyribonuclease I 81 apoptosis|DNA catabolic process extracellular region|nuclear envelope actin binding|deoxyribonuclease I activity lung(1) 1 Ovarian(90;0.0261) Kidney(780;0.0556) Dornase Alfa(DB00003) ATCCAGGGATGCACCAGACAC 0.597000 57 239 0 0 1 0 0 HDX 139324 broad.mit.edu 37 X 83724365 83724365 + Silent SNP T T A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:83724365T>A ENST00000297977.5 - 3 477 c.366A>T c.(364-366)acA>acT p.T122T HDX_ENST00000506585.2_Silent_p.T64T|HDX_ENST00000373177.2_Silent_p.T122T NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 122 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TATGTTTGTTTGTTCCTTGCC 0.403000 66 374 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148936 34148936 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:34148936C>T ENST00000346193.3 - 1 1511 c.1460G>A c.(1459-1461)cGg>cAg p.R487Q NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 487 p.R487Q(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 ACTGGACCTCCGACGTGTCTT 0.642000 76 299 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688782 60688782 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:60688782C>T ENST00000335712.6 - 4 1492 c.1265G>A c.(1264-1266)cGc>cAc p.R422H BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.R91H|BCL11A_ENST00000538214.1_Missense_Mutation_p.R388H|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.R388H|BCL11A_ENST00000356842.4_Missense_Mutation_p.R422H NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 422 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CTTCATGTGGCGCTTCAGCTT 0.647000 T IGH@ B-CLL 8 420 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070139 141070139 + RNA SNP C C T rs143443709 by1000genomes TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr9:141070139C>T ENST00000503395.1 + 0 1219 p.L85F(2) CGGGCAGGTCCTCAGGCCAGA 0.667000 6 300 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542654 14542654 + Silent SNP C C A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr18:14542654C>A ENST00000358970.5 - 1 491 c.492G>T c.(490-492)acG>acT p.T164T POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 164 p.T164T(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGTTCATGTCCGTGTCCCTGA 0.592000 6 445 3.59834e-05 3.71878e-05 1 1 0 SORBS2 8470 broad.mit.edu 37 4 186544639 186544639 + Silent SNP A A G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr4:186544639A>G ENST00000431808.1 - 14 2495 c.1932T>C c.(1930-1932)caT>caC p.H644H SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.H644H|SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 644 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ggtggtggtgatggtggtggt 0.522000 5 225 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175365862 175365862 + Missense_Mutation SNP G G A rs138654492 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:175365862G>A ENST00000367674.1 - 5 1766 c.1058C>T c.(1057-1059)aCg>aTg p.T353M TNR_ENST00000263525.2_Missense_Mutation_p.T353M NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 353 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CACATATTCCGTCACTGCCAT 0.617000 7 531 0 0 1 0 0 AP2B1 163 broad.mit.edu 37 17 33954713 33954713 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:33954713C>T ENST00000262325.7 + 9 1676 c.1123C>T c.(1123-1125)Cgg>Tgg p.R375W AP2B1_ENST00000589344.1_Missense_Mutation_p.R375W|AP2B1_ENST00000538556.1_Missense_Mutation_p.R318W|AP2B1_ENST00000537622.2_Missense_Mutation_p.R375W|AP2B1_ENST00000312678.8_Missense_Mutation_p.R375W|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.R337W NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 375 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) AAAAGCTGTGCGGGCCATTGG 0.438000 4 278 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77885649 77885649 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:77885649C>T ENST00000354212.4 - 10 1911 c.1658G>A c.(1657-1659)cGg>cAg p.R553Q MAGI2_ENST00000536571.1_Missense_Mutation_p.R385Q|MAGI2_ENST00000522391.1_Missense_Mutation_p.R553Q|MAGI2_ENST00000535697.1_Missense_Mutation_p.R390Q|MAGI2_ENST00000419488.1_Missense_Mutation_p.R553Q NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 553 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CTGTGAGGTCCGAGAAATGTA 0.512000 38 163 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8633320 8633320 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr9:8633320G>A ENST00000381196.4 - 11 892 c.349C>T c.(349-351)Cgg>Tgg p.R117W PTPRD_ENST00000358503.5_Missense_Mutation_p.R117W|PTPRD_ENST00000486161.1_Missense_Mutation_p.R117W|PTPRD_ENST00000356435.5_Missense_Mutation_p.R117W|PTPRD_ENST00000397606.3_Missense_Mutation_p.R117W|PTPRD_ENST00000397617.3_Missense_Mutation_p.R117W|PTPRD_ENST00000397611.3_Missense_Mutation_p.R117W|PTPRD_ENST00000463477.1_Missense_Mutation_p.R117W|PTPRD_ENST00000355233.5_Missense_Mutation_p.R117W|PTPRD_ENST00000537002.1_Missense_Mutation_p.R117W|PTPRD_ENST00000540109.1_Missense_Mutation_p.R117W|PTPRD_ENST00000360074.4_Missense_Mutation_p.R117W NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 117 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CACTTACCCCGCAAAACTGTG 0.418000 TSP Lung(15;0.13) 6 393 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51378785 51378785 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:51378785G>A ENST00000266037.9 + 38 3907 c.3884G>A c.(3883-3885)cGg>cAg p.R1295Q NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1295 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GGACTGTGCCGGAAGATCATT 0.532000 5 116 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121160087 121160087 + Missense_Mutation SNP G G T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr8:121160087G>T ENST00000297848.3 + 2 276 c.6G>T c.(4-6)aaG>aaT p.K2N COL14A1_ENST00000247781.3_Missense_Mutation_p.K2N|COL14A1_ENST00000309791.4_Missense_Mutation_p.K2N|COL14A1_ENST00000537875.1_Missense_Mutation_p.K2N|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 2 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ATAAAATGAAGATTTTCCAGC 0.383000 26 223 3.73988e-18 3.98169e-18 1 1 0 IGSF21 84966 broad.mit.edu 37 1 18692048 18692048 + Missense_Mutation SNP G G A rs149943630 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:18692048G>A ENST00000251296.1 + 6 1255 c.872G>A c.(871-873)cGc>cAc p.R291H NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 291 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CGCCACAGCCGCACCCCGAGC 0.632000 5 304 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8791989 8791989 + Missense_Mutation SNP G G C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:8791989G>C ENST00000447110.1 - 10 1239 c.1115C>G c.(1114-1116)tCg>tGg p.S372W PIK3R5_ENST00000584803.1_Missense_Mutation_p.S372W|PIK3R5_ENST00000581552.1_Missense_Mutation_p.S372W NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 372 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CAGATGGCGCGAGAGGGCCGG 0.632000 18 119 0 0 1 0 0 DIO3 1735 broad.mit.edu 37 14 102028119 102028119 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr14:102028119G>A ENST00000359323.3 + 1 432 c.208G>A c.(208-210)Gat>Aat p.D70N DIO3_ENST00000510508.4_Missense_Mutation_p.D96N NM_001362.3 NP_001353.4 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 70 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) GGTGCCTCCCGATGACCCGCC 0.642000 53 268 0 0 1 0 0 RP11-1055B8.7 0 broad.mit.edu 37 17 79412086 79412086 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:79412086G>A ENST00000307745.7 + 13 2717 c.2717G>A c.(2716-2718)gGc>gAc p.G906D ATGTACGGGGGCCGGGGCCCC 0.706000 32 56 0 0 1 0 0 PRAMEF3 401940 broad.mit.edu 37 1 13330615 13330615 + Missense_Mutation SNP A A G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:13330615A>G ENST00000376173.3 - 2 691 c.671T>C c.(670-672)gTa>gCa p.V224A PRAMEF3_ENST00000353410.5_Missense_Mutation_p.V222A NM_001013692.1 NP_001013714.3 PRAME family member 3 ovary(1) 1 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GATAAACTCTACTATCATACA 0.423000 8 1023 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49671084 49671084 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr16:49671084C>T ENST00000561648.1 - 4 2032 c.1979G>A c.(1978-1980)cGg>cAg p.R660Q ZNF423_ENST00000262383.2_Missense_Mutation_p.R660Q|ZNF423_ENST00000535559.1_Missense_Mutation_p.R543Q|ZNF423_ENST00000562871.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000562520.1_Missense_Mutation_p.R600Q|ZNF423_ENST00000563137.2_Missense_Mutation_p.R600Q|ZNF423_ENST00000567169.1_Missense_Mutation_p.R543Q NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 660 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CGCTTGCTTCCGCAGCAGCAG 0.552000 37 174 0 0 1 0 0 NR0B1 190 broad.mit.edu 37 X 30326930 30326930 + Missense_Mutation SNP T T G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:30326930T>G ENST00000378970.4 - 1 785 c.551A>C c.(550-552)aAa>aCa p.K184T NR0B1_ENST00000453287.1_Missense_Mutation_p.K184T NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 184 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) TAGCGCCTCTTTACCCCCTGG 0.692000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 43 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42005299 42005299 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:42005299G>A ENST00000395925.3 - 15 3456 c.3372C>T c.(3370-3372)caC>caT p.H1124H GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1124 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CACCGGGCCCGTGGGGCACTT 0.657000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 97 370 0 0 1 0 0 GRB7 2886 broad.mit.edu 37 17 37902199 37902199 + Missense_Mutation SNP G G A rs149195822 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:37902199G>A ENST00000309156.4 + 13 1561 c.1304G>A c.(1303-1305)cGc>cAc p.R435H GRB7_ENST00000394204.1_Intron|GRB7_ENST00000445327.2_Missense_Mutation_p.R458H|GRB7_ENST00000394209.2_Missense_Mutation_p.R435H|GRB7_ENST00000394211.3_Missense_Mutation_p.R435H|GRB7_ENST00000309185.3_Intron NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 435 SH2. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity p.R435H(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTCCACGGGCGCATTTCCCGT 0.622000 9 1011 0 0 1 0 0 AMZ2 51321 broad.mit.edu 37 17 66253070 66253070 + Missense_Mutation SNP A A C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:66253070A>C ENST00000359904.3 + 7 2175 c.1043A>C c.(1042-1044)aAa>aCa p.K348T AMZ2_ENST00000577985.1_Missense_Mutation_p.K348T|AMZ2_ENST00000392720.2_Missense_Mutation_p.K348T|AMZ2_ENST00000580753.1_Missense_Mutation_p.K348T|AMZ2_ENST00000359783.4_Missense_Mutation_p.K290T|AMZ2_ENST00000577866.1_Missense_Mutation_p.K348T|AMZ2_ENST00000577273.1_3'UTR NM_016627.4 NP_057711.3 Q86W34 AMZ2_HUMAN archaelysin family metallopeptidase 2 348 metallopeptidase activity|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) AAGGAATGGAAAGAGTGGATA 0.398000 57 417 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110221488 110221488 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:110221488G>A ENST00000418703.2 - 15 2648 c.2554C>T c.(2554-2556)Cgc>Tgc p.R852C TRPV4_ENST00000541794.1_Missense_Mutation_p.R805C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R745C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R792C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R852C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R805C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R792C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R818C NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 852 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CCATCGCAGCGGGGGTTCCCC 0.642000 34 140 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122825945 122825945 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:122825945G>A ENST00000358808.2 - 10 1927 c.1773C>T c.(1771-1773)aaC>aaT p.N591N CLIP1_ENST00000361654.4_Silent_p.N556N|CLIP1_ENST00000302528.7_Silent_p.N591N|CLIP1_ENST00000540338.1_Silent_p.N602N|CLIP1_ENST00000545889.1_Silent_p.N292N|CLIP1_ENST00000537178.1_Silent_p.N556N NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 602 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TCAATGACTCGTTCTCTTTGG 0.468000 103 601 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:82784471A>G ENST00000423517.2 - 2 1823 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_ENST00000333891.8_Missense_Mutation_p.S496P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 442 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(6)|p.?(3) 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 GGCTTTGCTGAGCCAGGCTGT 0.607000 18 634 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 5 259 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145886749 145886749 + Silent SNP A A G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr5:145886749A>G ENST00000296702.5 + 19 2927 c.2889A>G c.(2887-2889)caA>caG p.Q963Q TCERG1_ENST00000394421.2_Silent_p.Q942Q NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 963 FF 5. 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) ACTTTAGGCAACTTCTGGATG 0.338000 72 264 0 0 1 0 0 JPH4 84502 broad.mit.edu 37 14 24040339 24040339 + Missense_Mutation SNP C C A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr14:24040339C>A ENST00000397118.3 - 6 2503 c.1601G>T c.(1600-1602)gGc>gTc p.G534V JPH4_ENST00000544177.1_Missense_Mutation_p.G199V|JPH4_ENST00000356300.4_Missense_Mutation_p.G534V NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 534 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GTCGCTGCAGCCTCCGAGGAG 0.667000 10 948 7.48243e-07 7.76538e-07 1 1 0 AKAP8L 26993 broad.mit.edu 37 19 15512085 15512085 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:15512085C>T ENST00000397410.4 - 5 756 c.692G>A c.(691-693)gGc>gAc p.G231D AKAP8L_ENST00000595465.1_Missense_Mutation_p.G170D|AKAP8L_ENST00000595136.1_5'UTR NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 231 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 CTGGAACATGCCGTACTCGGG 0.657000 6 598 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102516511 102516511 + RNA SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr15:102516511C>T ENST00000557932.1 + 0 1459 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 AGACTTGGGCCGTTGCTCTGA 0.627000 5 180 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39914871 39914871 + Nonsense_Mutation SNP C C G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:39914871C>G ENST00000425673.1 + 17 3336 c.3011C>G c.(3010-3012)tCa>tGa p.S1004* PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.S974*|PLEKHG2_ENST00000409794.3_Nonsense_Mutation_p.S1033*|PLEKHG2_ENST00000378550.1_Intron Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 1033 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TTCACAGTTTCAGTCACCACC 0.547000 69 286 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112642326 112642326 + Nonsense_Mutation SNP C C A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:112642326C>A ENST00000550722.1 - 53 8190 c.7795G>T c.(7795-7797)Gaa>Taa p.E2599* HECTD4_ENST00000377560.5_Nonsense_Mutation_p.E2573*|HECTD4_ENST00000430131.2_Nonsense_Mutation_p.E2323* NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TTGTTTGCTTCGTCTTTAATG 0.393000 17 176 3.62473e-10 3.77767e-10 1 1 0 CADM2 253559 broad.mit.edu 37 3 86010650 86010650 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:86010650G>A ENST00000383699.3 + 8 1450 c.823G>A c.(823-825)Gga>Aga p.G275R CADM2_ENST00000405615.2_Missense_Mutation_p.G268R|CADM2_ENST00000407528.2_Missense_Mutation_p.G266R NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 266 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) AAAGGATGGCGGAGAATTACC 0.378000 5 402 0 0 1 0 0 BNIP3P1 0 broad.mit.edu 37 14 28734026 28734026 + RNA SNP G G T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr14:28734026G>T ENST00000550043.1 + 0 431 GCATTGGAGAGAAAAACAGCT 0.453000 88 300 3.7744e-50 4.14345e-50 1 1 0 MST1L 0 broad.mit.edu 37 1 17083685 17083685 + RNA SNP C C A rs3197973 by1000genomes TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:17083685C>A ENST00000455405.2 - 0 903 ACTGTACTTACAAGTTTTGTC 0.403000 27 126 1.26612e-14 1.33077e-14 1 1 0 COX7B2 170712 broad.mit.edu 37 4 46737152 46737152 + Missense_Mutation SNP G G C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr4:46737152G>C ENST00000396533.1 - 4 308 c.58C>G c.(58-60)Caa>Gaa p.Q20E COX7B2_ENST00000543208.1_Missense_Mutation_p.Q19E|COX7B2_ENST00000355591.3_Missense_Mutation_p.Q20E|COX7B2_ENST00000302930.5_Missense_Mutation_p.Q20E Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 20 integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity large_intestine(1)|lung(4) 5 GCCATGCTTTGCAGAATGCTT 0.423000 5 397 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 9 800 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39262875 39262875 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr13:39262875C>T ENST00000280481.7 + 1 1610 c.1394C>T c.(1393-1395)cCg>cTg p.P465L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 465 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.P465L(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGCAGTGGTCCGCAAAACTTG 0.582000 24 167 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111368508 111368508 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:111368508C>T ENST00000428084.1 - 53 6022 c.5750G>A c.(5749-5751)cGg>cAg p.R1917Q DOCK4_ENST00000494651.2_Missense_Mutation_p.R791Q|DOCK4_ENST00000437633.1_Missense_Mutation_p.R1908Q Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1908 Pro-rich. P -> L. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) CCGCAGAGTCCGCTCGTAGAC 0.731000 62 201 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24533237 24533237 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:24533237C>T ENST00000355123.4 - 7 1012 c.569G>A c.(568-570)gGg>gAg p.G190E ITSN2_ENST00000361999.3_Missense_Mutation_p.G190E|ITSN2_ENST00000406921.3_Missense_Mutation_p.G190E NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 190 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATAAGATGACCCATGAGGCAA 0.343000 123 842 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 4 99 0 0 1 0 0 PLA2G12B 84647 broad.mit.edu 37 10 74701027 74701027 + Silent SNP G G A rs141448551 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr10:74701027G>A ENST00000373032.3 - 3 458 c.366C>T c.(364-366)tgC>tgT p.C122C NM_032562.2 NP_115951.2 Q9BX93 PG12B_HUMAN phospholipase A2, group XIIB 122 lipid catabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 9 Prostate(51;0.0198) TGTTGGCACCGCAAGTGTCAT 0.493000 6 657 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343367 130343367 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr11:130343367C>T ENST00000299164.2 + 8 2504 c.2504C>T c.(2503-2505)cCg>cTg p.P835L NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 835 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GTGGAGCAGCCGGACGACAGG 0.697000 111 374 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 102980335 102980335 + Missense_Mutation SNP T T C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr11:102980335T>C ENST00000375735.2 + 1 176 c.32T>C c.(31-33)cTc>cCc p.L11P DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L11P|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.L11P NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 11 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GTTCGGAAGCTCTTCATCTTC 0.507000 10 103 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733552 152733552 + Silent SNP C C A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:152733552C>A ENST00000368773.1 + 2 1546 c.1488C>A c.(1486-1488)cgC>cgA p.R496R KPRP_ENST00000606109.1_Silent_p.R496R NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 496 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGACTTGGCGCAGCCCCAGCC 0.647000 9 293 0.000274275 0.000282275 1 1 0 ENTPD2 954 broad.mit.edu 37 9 139944888 139944888 + Missense_Mutation SNP A A T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr9:139944888A>T ENST00000355097.2 - 6 924 c.877T>A c.(877-879)Ttc>Atc p.F293I ENTPD2_ENST00000312665.5_Missense_Mutation_p.F293I NM_001246.3|NM_203468.2 NP_001237.1|NP_982293.1 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 293 integral to membrane ATP binding endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3) 12 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CTGCTGTTGAAGTTCTGGGGC 0.632000 OREG0019627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 141 0 0 1 0 0 MLK4 0 broad.mit.edu 37 1 233507804 233507804 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:233507804G>A ENST00000366624.3 + 6 1834 c.1573G>A c.(1573-1575)Gtg>Atg p.V525M MLK4_ENST00000366623.3_Missense_Mutation_p.V525M NM_032435.2 NP_115811.2 CAAGATAACCGTGCAGGCCTC 0.507000 92 234 0 0 1 0 0 RFX4 5992 broad.mit.edu 37 12 107090097 107090097 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:107090097C>T ENST00000392842.1 + 8 1120 c.706C>T c.(706-708)Ccg>Tcg p.P236S RFX4_ENST00000357881.4_Missense_Mutation_p.P245S|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.P142S NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 236 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 GCAAGGAATGCCGCCCCACAT 0.552000 6 417 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32623887 32623887 + Nonsense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr14:32623887G>A ENST00000345122.3 + 7 4557 c.4242G>A c.(4240-4242)tgG>tgA p.W1414* ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.W1414*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.W1413*|ARHGAP5_ENST00000433497.1_Nonsense_Mutation_p.W153*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.W1413*|ARHGAP5_ENST00000396582.2_Nonsense_Mutation_p.W149* NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 1414 Rho-GAP. cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TCTGTTTTTGGCCAACCTTGA 0.338000 84 279 0 0 1 0 0 ENTPD4 9583 broad.mit.edu 37 8 23294452 23294452 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr8:23294452C>T ENST00000358689.4 - 10 1604 c.1369G>A c.(1369-1371)Gca>Aca p.A457T ENTPD4_ENST00000521321.1_5'UTR|ENTPD4_ENST00000417069.2_Missense_Mutation_p.A449T|ENTPD4_ENST00000356206.6_Missense_Mutation_p.A449T NM_001128930.2|NM_004901.4 NP_001122402.1|NP_004892.1 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 457 UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 25 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) GGTACCTTTGCAGCTTTAGTA 0.483000 99 427 0 0 1 0 0 GUCD1 83606 broad.mit.edu 37 22 24939822 24939822 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr22:24939822C>T ENST00000435822.1 - 5 940 c.616G>A c.(616-618)Gcc>Acc p.A206T GUCD1_ENST00000447813.2_Intron|GUCD1_ENST00000402766.1_Intron|GUCD1_ENST00000490922.1_Intron|GUCD1_ENST00000407471.3_Missense_Mutation_p.A206T|GUCD1_ENST00000404664.3_Missense_Mutation_p.A262T NM_031444.2 NP_113632.2 guanylyl cyclase domain containing 1 TCGGCATAGGCTGGGTTGTTG 0.592000 36 84 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18937330 18937330 + Missense_Mutation SNP T T C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr16:18937330T>C ENST00000446231.2 - 1 446 c.34A>G c.(34-36)Agc>Ggc p.S12G SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 12 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ccgccgccgctgcTCAGCCGA 0.736000 6 58 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61512959 61512959 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr20:61512959G>A ENST00000266070.4 - 16 4674 c.4349C>T c.(4348-4350)gCc>gTc p.A1450V DIDO1_ENST00000395343.1_Missense_Mutation_p.A1450V NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1450 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCTCACGTCGGCACACATCCT 0.607000 6 529 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336573 30336573 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr10:30336573G>A ENST00000375377.1 - 2 270 c.169C>T c.(169-171)Cgt>Tgt p.R57C NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 57 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GACGTCTTACGATGTGCGAGG 0.662000 54 208 0 0 1 0 0 TIAF1 9220 broad.mit.edu 37 17 27401145 27401145 + Missense_Mutation SNP G G A rs151013388 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:27401145G>A ENST00000359450.6 - 1 4730 c.73C>T c.(73-75)Cgg>Tgg p.R25W MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.R25W|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_3'UTR NM_004740.3 NP_004731.2 O95411 TIAF1_HUMAN TGFB1-induced anti-apoptotic factor 1 25 anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade nucleus kidney(1)|lung(1)|urinary_tract(1) 3 Lung NSC(42;0.015) Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) ACCTGGACCCGGCTCTCCTCA 0.592000 39 248 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 6 62 0 0 1 0 0 OR5J2 282775 broad.mit.edu 37 11 55944377 55944377 + Missense_Mutation SNP C C G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr11:55944377C>G ENST00000312298.1 + 1 284 c.284C>G c.(283-285)tCt>tGt p.S95C NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) ATTTCTTTCTCTGCTTGCATG 0.458000 9 409 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34240896 34240896 + Silent SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr20:34240896C>T ENST00000374114.3 - 3 2612 c.2349G>A c.(2347-2349)tcG>tcA p.S783S CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Silent_p.S783S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Silent_p.S783S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000317677.5_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 783 Gly-rich.|Pro-rich. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CTCCAAATCCCGATGGCCCAC 0.562000 79 246 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276585 186276585 + Silent SNP A A C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:186276585A>C ENST00000445192.2 + 7 1779 c.1734A>C c.(1732-1734)ccA>ccC p.P578P PRG4_ENST00000367485.4_Silent_p.P485P|PRG4_ENST00000367483.4_Silent_p.P537P|PRG4_ENST00000367486.3_Silent_p.P535P|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 578 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 AGCCTGCCCCAACTACCCCCA 0.642000 12 388 0 0 1 0 0 USP35 57558 broad.mit.edu 37 11 77907359 77907359 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr11:77907359G>A ENST00000529308.1 + 2 329 c.68G>A c.(67-69)cGg>cAg p.R23Q USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 23 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GGGCTGGTTCGGCGCGTGCTG 0.716000 59 226 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130511512 130511512 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr9:130511512G>A ENST00000314830.8 - 5 1230 c.1117C>T c.(1117-1119)Cgc>Tgc p.R373C SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R19C|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R213C|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R305C|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R216C|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R215C NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 373 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity p.R373S(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCATCGCTGCGGGTGACCTTG 0.617000 59 334 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104618363 104618363 + Silent SNP C C A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr14:104618363C>A ENST00000423312.2 + 3 300 c.300C>A c.(298-300)ctC>ctA p.L100L KIF26A_ENST00000315264.7_5'UTR NM_015656.1 NP_056471.1 Q9ULI4 KI26A_HUMAN kinesin family member 26A 100 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) ATCCTTGCCTCTCTGCCCTGC 0.672000 55 172 2.01871e-26 2.17739e-26 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 11 95 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879329 3879329 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr18:3879329G>A ENST00000315677.3 - 4 1335 c.740C>T c.(739-741)gCg>gTg p.A247V DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.A247V|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A247V|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A247V NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 247 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) GGCCTTCACCGCCTGCTCGCT 0.657000 68 258 0 0 1 0 0 GM2A 2760 broad.mit.edu 37 5 150639359 150639359 + Missense_Mutation SNP G G C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr5:150639359G>C ENST00000357164.3 + 2 450 c.125G>C c.(124-126)gGg>gCg p.G42A NM_000405.4|NM_001167607.1 NP_000396.2|NP_001161079.1 P17900 SAP3_HUMAN GM2 ganglioside activator 42 lysosome|nucleolus sphingolipid activator protein activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTGATGAAGGGAAGGACCCT 0.527000 4 176 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577141 7577141 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:7577141C>T ENST00000420246.2 - 8 929 c.797G>A c.(796-798)gGa>gAa p.G266E TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 266 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCTGTTCCGTCCCAGTAGATT 0.517000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 43 0 0 1 0 0 TPD52L1 0 broad.mit.edu 37 6 125541274 125541274 + Missense_Mutation SNP A A T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr6:125541274A>T ENST00000534000.1 + 2 366 c.70A>T c.(70-72)Agt>Tgt p.S24C TPD52L1_ENST00000304877.13_Missense_Mutation_p.S24C|TPD52L1_ENST00000392482.2_5'UTR|TPD52L1_ENST00000368402.5_Missense_Mutation_p.S24C|TPD52L1_ENST00000524679.1_5'UTR|TPD52L1_ENST00000528193.1_Missense_Mutation_p.S24C|TPD52L1_ENST00000527711.1_Missense_Mutation_p.S24C|TPD52L1_ENST00000534199.1_5'UTR|TPD52L1_ENST00000368388.2_Missense_Mutation_p.S24C|TPD52L1_ENST00000532429.1_5'UTR NM_003287.2 NP_003278.1 Q16890 TPD53_HUMAN tumor protein D52-like 1 24 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity endometrium(2)|large_intestine(2)|prostate(1) 5 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) TGCAGTAGCCAGTGCTGACTT 0.378000 4 288 0 0 1 0 0 DPPA3P2 0 broad.mit.edu 37 14 36840911 36840911 + RNA SNP G G T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr14:36840911G>T ENST00000557188.1 + 0 542 AAGATGGCAAGATTGAGATAC 0.468000 44 168 1.32136e-16 1.40075e-16 1 1 0 FCGR3A 2214 broad.mit.edu 37 1 161512867 161512867 + Nonsense_Mutation SNP G G A rs1042207 byFrequency TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:161512867G>A ENST00000367969.3 - 5 991 c.808C>T c.(808-810)Cga>Tga p.R270* FCGR3A_ENST00000443193.1_Nonsense_Mutation_p.R269*|FCGR3A_ENST00000436743.1_Nonsense_Mutation_p.R234*|FCGR3A_ENST00000540048.1_Nonsense_Mutation_p.R234* NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 234 immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity p.R270*(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GTTGAGCTTCGAATGTTTGTC 0.443000 7 549 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 7 331 0 0 1 0 0 PGC 5225 broad.mit.edu 37 6 41704646 41704646 + Missense_Mutation SNP A A G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr6:41704646A>G ENST00000373025.3 - 9 1173 c.1111T>C c.(1111-1113)Tac>Cac p.Y371H NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) 371 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) ACGGAATAGTAGGACCTGAGG 0.602000 10 198 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72295749 72295749 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr11:72295749G>A ENST00000334456.5 - 18 1628 c.1383C>T c.(1381-1383)gcC>gcT p.A461A PDE2A_ENST00000540345.1_Silent_p.A452A|PDE2A_ENST00000544570.1_Silent_p.A454A|PDE2A_ENST00000376450.3_Silent_p.A205A|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Silent_p.A452A|PDE2A_ENST00000418754.2_Silent_p.A346A NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 461 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TGCCCTGATCGGCCGGGATGC 0.622000 35 131 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215865634 215865634 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:215865634C>T ENST00000272895.7 - 22 3193 c.2974G>A c.(2974-2976)Gca>Aca p.A992T ABCA12_ENST00000389661.4_Missense_Mutation_p.A674T NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 992 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GTGGTCTGTGCGGTCTTGAGA 0.448000 6 448 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 10 97 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18043920 18043920 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:18043920G>A ENST00000205890.5 + 20 5639 c.5301G>A c.(5299-5301)gcG>gcA p.A1767A MYO15A_ENST00000412324.1_3'UTR NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1767 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCTACAAGGCGCACACTGTGG 0.662000 OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 411 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67691335 67691335 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:67691335C>T ENST00000545606.1 + 5 1077 c.640C>T c.(640-642)Ctt>Ttt p.L214F NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 214 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TTTTGTAGATCTTATTGAACA 0.403000 87 290 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37471275 37471275 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr22:37471275G>A ENST00000381792.2 - 11 1382 c.1242C>T c.(1240-1242)ccC>ccT p.P414P TMPRSS6_ENST00000406725.1_Silent_p.P414P|TMPRSS6_ENST00000406856.1_Silent_p.P414P|TMPRSS6_ENST00000346753.3_Silent_p.P423P Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 423 CUB 2. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 TGGCCACCACGGGGATCCTCT 0.657000 5 303 0 0 1 0 0 GLB1L 79411 broad.mit.edu 37 2 220101856 220101856 + Missense_Mutation SNP T T C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:220101856T>C ENST00000295759.7 - 17 2216 c.1903A>G c.(1903-1905)Atc>Gtc p.I635V GLB1L_ENST00000392089.2_Missense_Mutation_p.I635V|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Missense_Mutation_p.I545V|GLB1L_ENST00000356283.3_Missense_Mutation_p.I545V Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 635 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGGAATTGATATGTGTCCTG 0.468000 99 398 0 0 1 0 0 PRSS36 146547 broad.mit.edu 37 16 31152793 31152793 + Missense_Mutation SNP A A G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr16:31152793A>G ENST00000268281.4 - 12 1956 c.1898T>C c.(1897-1899)cTc>cCc p.L633P PRSS36_ENST00000569305.1_Missense_Mutation_p.L628P|PRSS36_ENST00000418068.2_Missense_Mutation_p.L633P NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 633 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 GACCCACCTGAGGACACAGTG 0.547000 6 463 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 5 212 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871061 170871061 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr6:170871061G>A ENST00000392092.2 + 3 516 c.237G>A c.(235-237)caG>caA p.Q79Q TBP_ENST00000540980.1_Silent_p.Q59Q|TBP_ENST00000230354.6_Silent_p.Q79Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 79 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q79Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.582000 7 111 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3216706 3216706 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr8:3216706C>T ENST00000520002.1 - 22 3830 c.3275G>A c.(3274-3276)cGt>cAt p.R1092H CSMD1_ENST00000602723.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1092H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1092H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1091H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1091H Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1092 Sushi 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACTCCACACACGGCGGCCCCC 0.562000 7 316 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21231133 21231133 + Silent SNP A A G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:21231133A>G ENST00000233242.1 - 26 8734 c.8607T>C c.(8605-8607)ctT>ctC p.L2869L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2869 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTCCATTACTAAGCTCCAGTG 0.393000 9 685 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112642347 112642347 + Missense_Mutation SNP T T G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:112642347T>G ENST00000550722.1 - 53 8169 c.7774A>C c.(7774-7776)Acc>Ccc p.T2592P HECTD4_ENST00000377560.5_Missense_Mutation_p.T2566P|HECTD4_ENST00000430131.2_Missense_Mutation_p.T2316P NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TCTTCAATGGTGGGAAGATAA 0.388000 15 150 0 0 1 0 0 CEP135 9662 broad.mit.edu 37 4 56877620 56877620 + Nonsense_Mutation SNP G G T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr4:56877620G>T ENST00000257287.4 + 20 2672 c.2548G>T c.(2548-2550)Gaa>Taa p.E850* NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 850 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) AGAAAAAGAAGAAATGAAGAG 0.333000 38 177 3.7052e-28 4.01397e-28 1 1 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 8 320 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 55 180 0 0 1 0 0 PRDM4 11108 broad.mit.edu 37 12 108138409 108138409 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:108138409G>A ENST00000228437.5 - 7 1765 c.1306C>T c.(1306-1308)Cgg>Tgg p.R436W RP11-864J10.4_ENST00000546714.1_RNA NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 436 SET. cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 AAGCAAGTCCGCACAGGAATG 0.463000 5 256 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72363648 72363648 + Missense_Mutation SNP A A T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:72363648A>T ENST00000335666.4 + 1 52 c.4A>T c.(4-6)Agt>Tgt p.S2C NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 2 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 GTTAGCAATGAGTATTATGAT 0.527000 50 324 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44715672 44715672 + Missense_Mutation SNP T T C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:44715672T>C ENST00000222673.5 + 9 1172 c.1130T>C c.(1129-1131)cTt>cCt p.L377P OGDH_ENST00000543843.1_Missense_Mutation_p.L328P|OGDH_ENST00000449767.1_Missense_Mutation_p.L373P|OGDH_ENST00000444676.1_Missense_Mutation_p.L392P|OGDH_ENST00000439616.2_Missense_Mutation_p.L227P|OGDH_ENST00000443864.2_Missense_Mutation_p.L377P|OGDH_ENST00000447398.1_Missense_Mutation_p.L388P NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 377 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) CCTTCCCACCTTGAGGCCGCT 0.557000 71 410 0 0 1 0 0 STK32A 202374 broad.mit.edu 37 5 146750320 146750320 + Nonsense_Mutation SNP C C A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr5:146750320C>A ENST00000397936.3 + 9 1097 c.764C>A c.(763-765)tCa>tAa p.S255* STK32A_ENST00000398523.3_Nonsense_Mutation_p.S255* NM_001112724.1 NP_001106195.1 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A 255 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAATGGTGTCACTTCTTAAA 0.418000 70 308 1.74474e-33 1.89847e-33 1 1 0 BCAN 63827 broad.mit.edu 37 1 156621427 156621427 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:156621427G>A ENST00000329117.4 + 7 1579 c.1243G>A c.(1243-1245)Gga>Aga p.G415R RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.G415R NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 415 Glu-rich. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGAGGACGGAGGAGGTGGAAG 0.557000 88 437 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57175831 57175831 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:57175831C>T ENST00000537055.2 - 2 967 c.736G>A c.(736-738)Ggt>Agt p.G246S NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GGCTTCTCACCGGTGTGGATG 0.692000 16 122 0 0 1 0 0 ATP5F1 515 broad.mit.edu 37 1 111992194 111992194 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:111992194G>A ENST00000369722.3 + 1 637 c.31G>A c.(31-33)Gcc>Acc p.A11T ATP5F1_ENST00000483994.1_Missense_Mutation_p.A11T|ATP5F1_ENST00000369721.4_3'UTR NM_001688.4 NP_001679.2 P24539 AT5F1_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 11 ATP catabolic process|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) TTCCGCCGCCGCCACAGCGGG 0.577000 6 450 0 0 1 0 0 CECR2 27443 broad.mit.edu 37 22 18021889 18021889 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr22:18021889C>T ENST00000262608.8 + 15 1994 c.1994C>T c.(1993-1995)aCa>aTa p.T665I CECR2_ENST00000400585.2_Missense_Mutation_p.T523I|CECR2_ENST00000400573.4_Missense_Mutation_p.T664I NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 706 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) AGGCTAGGCACACCAGAGGAG 0.547000 9 77 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 6 118 0 0 1 0 0 KIAA0408 9729 broad.mit.edu 37 6 127771349 127771349 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr6:127771349G>A ENST00000483725.3 - 3 620 c.284C>T c.(283-285)aCg>aTg p.T95M SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 95 protein binding p.T95M(1) endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TTTGTGATTCGTCCTTATAAA 0.358000 6 430 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098773 11098773 + RNA SNP G G A rs77771067 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr21:11098773G>A ENST00000470054.1 - 0 152 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) cgctcaggccgccctcctaac 0.627000 51 727 0 0 1 0 0 MIR509-1 0 broad.mit.edu 37 X 146342062 146342062 + RNA SNP A A T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:146342062A>T ENST00000385265.1 - 0 81 NR_030236.1|NR_030586.1 TGTGTCATGCAGTACTCTACC 0.453000 155 735 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53752385 53752385 + Missense_Mutation SNP G G T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:53752385G>T ENST00000288139.3 + 10 1566 c.1448G>T c.(1447-1449)gGc>gTc p.G483V CACNA1D_ENST00000422281.2_Missense_Mutation_p.G483V|CACNA1D_ENST00000350061.5_Missense_Mutation_p.G483V NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 483 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) AGCGGTGAAGGCGAGAACCGA 0.592000 76 236 1.48481e-22 1.59456e-22 1 1 0 MYO3A 53904 broad.mit.edu 37 10 26434386 26434386 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr10:26434386G>A ENST00000265944.5 + 22 2594 c.2428G>A c.(2428-2430)Ggt>Agt p.G810S MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 810 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AAAATTTGAAGGTAACCTGAA 0.313000 22 127 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131669884 131669884 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr9:131669884G>A ENST00000259324.5 + 3 964 c.441G>A c.(439-441)ccG>ccA p.P147P LRRC8A_ENST00000372600.4_Silent_p.P147P|LRRC8A_ENST00000372599.3_Silent_p.P147P NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 147 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 TCAAATTCCCGCGCACCAGCT 0.572000 43 157 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123021980 123021980 + Silent SNP C C T rs148384901 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:123021980C>T ENST00000462833.1 - 14 3858 c.2646G>A c.(2644-2646)gcG>gcA p.A882A ADCY5_ENST00000491190.1_Silent_p.A515A|ADCY5_ENST00000309879.5_Silent_p.A532A NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 882 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CGGCCGACTCCGCCACGTGAC 0.652000 43 167 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272706 52272706 + Silent SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:52272706C>T ENST00000598776.1 + 2 1567 c.795C>T c.(793-795)acC>acT p.T265T FPR2_ENST00000598953.1_Silent_p.T265T|FPR2_ENST00000340023.6_Silent_p.T265T NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 265 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 TTCTGGGCACCGTCTGGCTCA 0.502000 45 160 0 0 1 0 0 AFMID 125061 broad.mit.edu 37 17 76187132 76187132 + Nonsense_Mutation SNP G G T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:76187132G>T ENST00000409257.5 + 2 199 c.145G>T c.(145-147)Gga>Tga p.G49* AFMID_ENST00000588800.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000327898.5_Nonsense_Mutation_p.G49*|AFMID_ENST00000586731.1_Nonsense_Mutation_p.G32*|AFMID_ENST00000589256.1_Nonsense_Mutation_p.G49*|AFMID_ENST00000591952.1_Nonsense_Mutation_p.G49* NM_001010982.4|NM_001145526.2 NP_001010982.2|NP_001138998.1 Q63HM1 AFMID_HUMAN arylformamidase 49 cytosol|nucleus arylformamidase activity autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) CTCACAGATAGGAATTGAAGG 0.557000 6 184 0.00198382 0.00201647 1 1 0 CBWD6 644019 broad.mit.edu 37 9 69247529 69247529 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr9:69247529G>A ENST00000377457.5 - 5 588 c.483C>T c.(481-483)taC>taT p.Y161Y CBWD6_ENST00000377449.1_Silent_p.Y125Y|CBWD6_ENST00000382399.4_Intron NM_001085457.1 NP_001078926.1 Q4V339 CBWD6_HUMAN COBW domain containing 6 161 ATP binding p.Y161Y(1) lung(4) 4 TACCATCAAGGTAAATATCAC 0.299000 6 478 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643049 1643049 + Missense_Mutation SNP A A C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr11:1643049A>C ENST00000399682.1 - 1 319 c.275T>G c.(274-276)gTc>gGc p.V92G NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 92 9 X 4 AA repeats of C-C-X-P. keratin filament p.V92G(2) NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCACAGGAGACACAGCCCCC 0.682000 7 248 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713171 30713171 + Nonsense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:30713171C>T ENST00000295754.5 + 4 878 c.496C>T c.(496-498)Caa>Taa p.Q166* TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.Q191* NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 166 activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 AGTCATATTTCAAGTGACAGG 0.473000 49 148 0 0 1 0 0 LRRC2 79442 broad.mit.edu 37 3 46563080 46563080 + Missense_Mutation SNP C C G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:46563080C>G ENST00000395905.3 - 8 1390 c.998G>C c.(997-999)aGt>aCt p.S333T LRRC2_ENST00000296144.3_Missense_Mutation_p.S333T NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 333 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) ATCCCGTTCACTTTCCATTAT 0.328000 5 189 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074504 76074504 + RNA SNP C C T rs146281026 by1000genomes TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr15:76074504C>T ENST00000395215.3 + 0 683 TGAACGCACACGTGACACAGG 0.572000 4 168 0 0 1 0 0 BECN1 8678 broad.mit.edu 37 17 40967986 40967986 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:40967986G>A ENST00000361523.4 - 8 902 c.770C>T c.(769-771)gCc>gTc p.A257V BECN1_ENST00000438274.3_Missense_Mutation_p.A181V|BECN1_ENST00000590099.1_Missense_Mutation_p.A257V NM_003766.3 NP_003757.1 Q14457 BECN1_HUMAN beclin 1, autophagy related 257 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) CTGCGTCTGGGCATAACGCAT 0.463000 7 376 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189917736 189917736 + Silent SNP G G A rs148430780 byFrequency TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:189917736G>A ENST00000374866.3 - 39 2836 c.2562C>T c.(2560-2562)gaC>gaT p.D854D NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 854 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CAGGCTGTCCGTCAGGACCCT 0.398000 52 210 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 10 142 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218925 130218925 + Missense_Mutation SNP T T C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:130218925T>C ENST00000276211.5 + 7 1187 c.842T>C c.(841-843)cTg>cCg p.L281P ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L269P|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L145P NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 281 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GATGTAGTGCTGGATGACAAT 0.488000 113 548 0 0 1 0 0 LILRB4 0 broad.mit.edu 37 19 55179342 55179342 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:55179342C>T ENST00000391736.1 + 14 1534 c.1219C>T c.(1219-1221)Ccc>Tcc p.P407S LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 407 integral to membrane|plasma membrane antigen binding|receptor activity p.P407S(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) ATCTGAAGCCCCCCAGGATGT 0.647000 6 328 0 0 1 0 0 IRAK3 0 broad.mit.edu 37 12 66641598 66641598 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:66641598G>A ENST00000261233.4 + 12 1859 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K IRAK3_ENST00000457197.2_Missense_Mutation_p.E419K NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 480 interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) TATTCCAGTGGAAGATGATGA 0.428000 65 210 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43411814 43411814 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:43411814G>A ENST00000187910.2 - 4 964 c.899C>T c.(898-900)aCg>aTg p.T300M PSG6_ENST00000292125.2_Missense_Mutation_p.T300M|PSG6_ENST00000402603.4_Intron NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) TTCATTTCTCGTGACACTGGG 0.488000 199 648 0 0 1 0 0 SYT12 91683 broad.mit.edu 37 11 66807576 66807576 + Nonsense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr11:66807576C>T ENST00000393946.2 + 7 1685 c.523C>T c.(523-525)Cag>Tag p.Q175* SYT12_ENST00000525457.1_Nonsense_Mutation_p.Q175*|SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Nonsense_Mutation_p.Q175* Q8IV01 SYT12_HUMAN synaptotagmin XII 175 C2 1. cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 GGCGGTGATGCAGGGCAAGGA 0.632000 5 226 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23191082 23191082 + Silent SNP G G A rs72292483 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr8:23191082G>A ENST00000389131.3 - 5 1167 c.798C>T c.(796-798)acC>acT p.T266T NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 266 SRCR 2. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) CCTCTGTGCCGGTGCAGTCCA 0.617000 4 174 0 0 1 0 0 OXTR 5021 broad.mit.edu 37 3 8794835 8794835 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:8794835G>A ENST00000316793.3 - 4 1622 c.998C>T c.(997-999)aCg>aTg p.T333M CAV3_ENST00000472766.1_Intron NM_000916.3 NP_000907.2 P30559 OXYR_HUMAN oxytocin receptor 333 female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) GAGGTGGCCCGTGAACAGCAT 0.617000 61 150 0 0 1 0 0 NAF1 92345 broad.mit.edu 37 4 164050124 164050124 + Silent SNP T T G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr4:164050124T>G ENST00000274054.2 - 8 1603 c.1410A>C c.(1408-1410)ccA>ccC p.P470P NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 470 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ggggagggggtgggggtaggg 0.522000 7 45 0 0 1 0 0 MED14 9282 broad.mit.edu 37 X 40526067 40526067 + Missense_Mutation SNP A A C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:40526067A>C ENST00000324817.1 - 24 3288 c.3170T>G c.(3169-3171)tTg>tGg p.L1057W NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 1057 Pro-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGGGCTCTCAAAGCCCCACT 0.493000 30 66 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811087 140811087 + Silent SNP C C T rs67877726 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr4:140811087C>T ENST00000509479.2 - 2 2359 c.1503G>A c.(1501-1503)caG>caA p.Q501Q MAML3_ENST00000327122.5_Silent_p.Q345Q|MAML3_ENST00000398940.1_Intron NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 501 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity 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 0.532000 27 144 0 0 1 0 0 PAG1 55824 broad.mit.edu 37 8 81888976 81888976 + Missense_Mutation SNP T T G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr8:81888976T>G ENST00000220597.4 - 9 1812 c.1102A>C c.(1102-1104)Act>Cct p.T368P NM_018440.3 NP_060910.3 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid microdomains 1 368 epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) CTGTTTGGAGTTTTTTCGAAG 0.512000 30 266 0 0 1 0 0 NAA11 84779 broad.mit.edu 37 4 80246531 80246531 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr4:80246531G>A ENST00000286794.4 - 1 673 c.501C>T c.(499-501)ggC>ggT p.G167G NAA11_ENST00000513733.1_5'UTR NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 167 cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 CCACATACCCGCCCTTCTTCA 0.532000 42 127 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131976091 131976091 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:131976091G>A ENST00000356920.5 + 1 210 c.116G>A c.(115-117)gGc>gAc p.G39D PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.G39D|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 39 ATP binding AGGGAGAGCGGCAAGAGCAAC 0.582000 7 911 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21687445 21687445 + Missense_Mutation SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr20:21687445G>A ENST00000398485.2 + 2 710 c.656G>A c.(655-657)cGc>cAc p.R219H PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.R195H NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 219 Paired. regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding p.R125L(1)|p.R219L(1) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 TCCATCAGCCGCATCCTGCGC 0.632000 6 548 0 0 1 0 0 C7orf57 136288 broad.mit.edu 37 7 48080979 48080979 + Missense_Mutation SNP C C T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:48080979C>T ENST00000348904.3 + 3 316 c.104C>T c.(103-105)gCc>gTc p.A35V C7orf57_ENST00000539619.1_Missense_Mutation_p.A35V|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.A80V|C7orf57_ENST00000420324.1_Missense_Mutation_p.A80V NM_001100159.2 NP_001093629.1 Q8NEG2 CG057_HUMAN chromosome 7 open reading frame 57 35 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 GCCGTGGATGCCCCACCAGCG 0.567000 4 206 0 0 1 0 0 HPN 3249 broad.mit.edu 37 19 35556925 35556925 + Missense_Mutation SNP C C G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:35556925C>G ENST00000262626.2 + 12 2029 c.1204C>G c.(1204-1206)Cag>Gag p.Q402E HPN_ENST00000392226.1_Missense_Mutation_p.Q402E|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.Q244E NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin 402 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) GTGGATCTTCCAGGCCATAAA 0.562000 11 613 0 0 1 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135789073 135789073 + Missense_Mutation SNP T T A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:135789073T>A ENST00000250617.6 - 9 2245 c.1040A>T c.(1039-1041)cAg>cTg p.Q347L ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q193L|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q193L|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q220L NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 347 DH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) TTACCTGTGCTGAGTGAGCAC 0.408000 7 627 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_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 5 435 0 0 1 0 0 HSPA12A 259217 broad.mit.edu 37 10 118434408 118434408 + Missense_Mutation SNP C C T rs41284376 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr10:118434408C>T ENST00000369209.3 - 12 2016 c.1912G>A c.(1912-1914)Gcc>Acc p.A638T NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 638 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) TCCCTCCGGGCGGGCACCGCA 0.577000 62 236 0 0 1 0 0 M1AP 130951 broad.mit.edu 37 2 74785998 74785998 + Missense_Mutation SNP C C G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:74785998C>G ENST00000290536.5 - 11 1554 c.1438G>C c.(1438-1440)Ggg>Cgg p.G480R M1AP_ENST00000409585.1_Missense_Mutation_p.G476R|M1AP_ENST00000358434.2_Missense_Mutation_p.G129R|M1AP_ENST00000536235.1_Missense_Mutation_p.G476R|M1AP_ENST00000464686.1_5'UTR NM_138804.3 NP_620159.2 meiosis 1 associated protein TGCAACTGCCCAGTCTGCAAA 0.542000 4 156 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854342 12854342 + Missense_Mutation SNP T T A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:12854342T>A ENST00000332296.7 + 3 669 c.566T>A c.(565-567)cTa>cAa p.L189Q NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 189 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTCAATTATCTAACGCCGATT 0.408000 11 2008 0 0 1 0 0 PM20D1 148811 broad.mit.edu 37 1 205819140 205819140 + Missense_Mutation SNP T T G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:205819140T>G ENST00000367136.4 - 1 105 c.61A>C c.(61-63)Acc>Ccc p.T21P PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 21 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) CTGGAGACGGTAGGGAAAACT 0.602000 28 245 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 7 21 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34666398 34666398 + Frame_Shift_Del DEL A A - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:34666398delA ENST00000488417.1 + 3 1155 c.1035delA c.(1033-1035)ccfs p.P345fs C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 155 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCAAGGAGCCAAAAAAGGGTC 0.572 7 316 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 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 7 245 --- --- --- --- NRD1 4898 broad.mit.edu 37 1 52290962 52290962 + Frame_Shift_Del DEL A A - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:52290962delA ENST00000354831.7 - 8 1426 c.1237delT c.(1237-1239)ggfs p.W413fs NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 344 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 ATCTTACCCCAAAAAAATTTT 0.318 7 723 --- --- --- --- KCND3 3752 broad.mit.edu 37 1 112524444 112524445 + Frame_Shift_Ins INS - - G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:112524444_112524445insG ENST00000369697.1 - 1 973_974 c.904_905insC c.(904-906)ccafs p.P302fs KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 302 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CTGGGAGTGGCGGGAAAACTTG 0.579 11 349 --- --- --- --- NGF 4803 broad.mit.edu 37 1 115828721 115828722 + Frame_Shift_Del DEL CA CA - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 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 7 369 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142713977 142713977 + RNA DEL T T - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:142713977delT ENST00000369381.2 - 0 628 ATCCATATACTAAAAAGGTTA 0.294 18 31 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 63 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 7 288 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 11 585 --- --- --- --- ISG20L2 81875 broad.mit.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:156694023delG ENST00000313146.6 - 2 1647 c.865delC c.(865-867)tcfs p.L289fs ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCGGTTGAGGGGGGGGATA 0.557 7 420 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 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 GGGGCTGCGTCCACCACCACCAC 0.601 10 764 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 12 244 --- --- --- --- OTOF 9381 broad.mit.edu 37 2 26693554 26693556 + In_Frame_Del DEL CTT CTT - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:26693554_26693556delCTT ENST00000272371.2 - 32 4054_4056 c.3928_3930delAAG c.(3928-3930)del p.K1310del OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1310 Poly-Lys. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCAGTGCCcttcttcttcttc 0.576 11 306 --- --- --- --- RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 7 316 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 7 262 --- --- --- --- SMYD5 10322 broad.mit.edu 37 2 73453009 73453011 + In_Frame_Del DEL GAG GAG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:73453009_73453011delGAG ENST00000389501.4 + 13 1237_1239 c.1192_1194delGAG c.(1192-1194)del p.E403del NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 403 Glu-rich. metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 ggaagaggaagaggaggaggagg 0.562 8 329 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 12 593 --- --- --- --- SULT1C3 442038 broad.mit.edu 37 2 108863685 108863685 + Frame_Shift_Del DEL A A - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:108863685delA ENST00000329106.2 + 1 35 c.35delA c.(34-36)gafs p.E12fs SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 12 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 CCCACGATGGAAAAAAAGCCA 0.353 9 439 --- --- --- --- MYO3B 140469 broad.mit.edu 37 2 171240259 171240259 + Frame_Shift_Del DEL C C - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:171240259delC ENST00000334231.6 + 12 1252 c.1252delC c.(1252-1254)ccfs p.P419fs MYO3B_ENST00000409044.3_Frame_Shift_Del_p.P410fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Del_p.P410fs Q8WXR4 MYO3B_HUMAN myosin IIIB 410 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 CGCCTCCAATCCCCCCCACAT 0.463 7 435 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 9 255 --- --- --- --- CCDC141 285025 broad.mit.edu 37 2 179730541 179730541 + Frame_Shift_Del DEL G G - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr2:179730541delG ENST00000420890.2 - 17 2794 c.2677delC c.(2677-2679)tgfs p.L893fs CCDC141_ENST00000295723.5_Frame_Shift_Del_p.L318fs NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 318 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CTACGGGACAGGGTCCGTCCA 0.532 7 1161 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 7 388 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 7 191 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113380090 113380090 + Frame_Shift_Del DEL T T - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:113380090delT ENST00000316407.4 - 7 849 c.439delA c.(439-441)ttfs p.I148fs KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 148 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TAAACAATAATTTTTTTTTGA 0.373 8 407 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 8 349 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 16 1090 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 421 actomyosin structure organization actin binding|zinc ion binding p.E810fs*3(1)|p.E425fs*3(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TTAGAGAGCGGAGAGAGAGAGA 0.465 11 576 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83785564 83785565 + Frame_Shift_Ins INS - - T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr4:83785564_83785565insT ENST00000432794.1 - 11 1547_1548 c.1384_1385insA c.(1384-1386)tgafs p.*462fs SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.*457fs|SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.*234fs O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 462 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding p.I462fs*16(2) SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) AGAAGCATCAATTTTTTTTTGG 0.356 7 339 --- --- --- --- CCDC111 0 broad.mit.edu 37 4 185599474 185599475 + Frame_Shift_Ins INS - - T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr4:185599474_185599475insT ENST00000314970.6 + 8 1366_1367 c.933_934insT c.(931-936)aattttfs p.NF311fs CCDC111_ENST00000515774.1_Frame_Shift_Ins_p.NF182fs|CCDC111_ENST00000512834.1_Frame_Shift_Ins_p.NF311fs|CCDC111_ENST00000503752.1_Frame_Shift_Ins_p.NF311fs NM_152683.2 NP_689896.1 Q96LW4 CC111_HUMAN 311 DNA replication, synthesis of RNA primer DNA primase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2) 16 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) AAGATAACAAATTTTTTCCTAT 0.327 20 171 --- --- --- --- PCDHB4 0 broad.mit.edu 37 5 140502486 140502487 + Frame_Shift_Ins INS - - A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr5:140502486_140502487insA ENST00000194152.1 + 1 906_907 c.906_907insA c.(904-909)ttaaaafs p.LK302fs NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 302 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.K305fs*12(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATACTGTTGAAAAAAAAATT 0.366 9 558 --- --- --- --- HMMR 3161 broad.mit.edu 37 5 162917425 162917426 + Frame_Shift_Ins INS - - A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr5:162917425_162917426insA ENST00000416990.2 + 17 2144_2145 c.1647_1648insA c.(1645-1650)gcaaaafs p.AK549fs HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 663 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) GTCAGCTTGCTAAAAAAAAACA 0.307 8 419 --- --- --- --- UNC5A 90249 broad.mit.edu 37 5 176301302 176301304 + In_Frame_Del DEL CAC CAC - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr5:176301302_176301304delCAC ENST00000329542.4 + 8 1387_1389 c.1113_1115delCAC c.(1111-1116)agc>ag p.ST371del UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 371 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGACCTCAGCACCACCACCACC 0.645 8 391 --- --- --- --- RP11-1252I4.2 0 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 8 14 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523273 32523274 + RNA DEL GA GA - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr6:32523273_32523274delGA ENST00000411500.1 - 0 458 NR_001298.1 ATTCCACTGTGAGAGGGCTCAT 0.396 9 43 --- --- --- --- KIAA1919 91749 broad.mit.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 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 8 340 --- --- --- --- AGPAT4 56895 broad.mit.edu 37 6 161560589 161560589 + Frame_Shift_Del DEL G G - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr6:161560589delG ENST00000320285.4 - 8 1119 c.907delC c.(907-909)ggfs p.R304fs AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs|AGPAT4_ENST00000366911.5_3'UTR NM_020133.2 NP_064518.1 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 304 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding p.R303fs*7(2)|p.R303fs*60(1) endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) CAGGGCCGCCGGGGGGGCACC 0.627 9 858 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284886 38284887 + RNA DEL GT GT - rs73692143 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:38284886_38284887delGT ENST00000436911.2 - 0 330 ATTTGTCAAGgtgtgtgtgtgt 0.391 7 355 --- --- --- --- FOXP2 93986 broad.mit.edu 37 7 114269971 114269973 + In_Frame_Del DEL CAA CAA - rs149757187 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr7:114269971_114269973delCAA ENST00000393500.3 + 11 1103_1105 c.283_285delCAA c.(283-285)del p.Q116del FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del O15409 FOXP2_HUMAN forkhead box P2 191 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 acagcagcagcaacaacaacaac 0.502 8 181 --- --- --- --- FGFR1 2260 broad.mit.edu 37 8 38285914 38285916 + In_Frame_Del DEL TCA TCA - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr8:38285914_38285916delTCA ENST00000447712.2 - 4 1337_1339 c.396_398delTGA c.(394-399)gac>ga p.DD132del FGFR1_ENST00000532791.1_In_Frame_Del_p.DD132del|FGFR1_ENST00000425967.3_In_Frame_Del_p.DD165del|FGFR1_ENST00000335922.5_In_Frame_Del_p.DD124del|FGFR1_ENST00000326324.6_In_Frame_Del_p.DD43del|FGFR1_ENST00000356207.5_In_Frame_Del_p.DD43del|FGFR1_ENST00000397113.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000397091.5_In_Frame_Del_p.DD132del|FGFR1_ENST00000397108.4_In_Frame_Del_p.DD132del|FGFR1_ENST00000341462.5_In_Frame_Del_p.DD135del|FGFR1_ENST00000397103.1_In_Frame_Del_p.DD43del NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 132 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.D133N(3)|p.D44N(1) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TGAAGAGGAGtcatcatcatcat 0.498 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 8 165 --- --- --- --- LYN 4067 broad.mit.edu 37 8 56863054 56863054 + Frame_Shift_Del DEL A A - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr8:56863054delA ENST00000520220.2 + 5 532 c.258delA c.(256-258)acfs p.T86fs LYN_ENST00000519728.1_Frame_Shift_Del_p.T107fs NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 107 SH3. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) CCCTTTTAACAAAAAAAGAAG 0.378 8 934 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 8 618 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974769 21974770 + In_Frame_Ins INS - - GGCCGT TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr9:21974769_21974770insGGCCGT ENST00000304494.5 - 1 327_328 c.57_58insACGGCC c.(55-60)gccggc>gcACGGCCcggc p.19_20AG>ARPG CDKN2A_ENST00000446177.1_In_Frame_Ins_p.19_20AG>ARPG|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_In_Frame_Ins_p.19_20AG>ARPG|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_In_Frame_Ins_p.19_20AG>ARPG|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 19 A -> ATA (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.A20T(2)|p.S12fs*6(1)|p.0(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.A20_A21del(1)|p.A20S(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCCGGGCCGCGGCCGTGGCCA 0.743 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 27 140 --- --- --- --- DAB2IP 153090 broad.mit.edu 37 9 124522389 124522391 + In_Frame_Del DEL AAG AAG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr9:124522389_124522391delAAG ENST00000408936.3 + 6 1023_1025 c.841_843delAAG c.(841-843)del p.K285del DAB2IP_ENST00000309989.1_In_Frame_Del_p.K161del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.K257del Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 285 C2. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GGAGACCGACAAGAAGAAGAAGA 0.601 8 275 --- --- --- --- GOLGA2 2801 broad.mit.edu 37 9 131019389 131019390 + Frame_Shift_Ins INS - - A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr9:131019389_131019390insA ENST00000421699.2 - 26 2977_2978 c.2965_2966insT c.(2965-2967)ccgfs p.P989fs NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 989 Golgi cisterna membrane protein binding p.Y977fs*9(2) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 GTCAGCCCGGTAAAAAAAAGGA 0.564 8 726 --- --- --- --- EXD3 54932 broad.mit.edu 37 9 140267462 140267462 + Frame_Shift_Del DEL G G - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr9:140267462delG ENST00000340951.4 - 5 552 c.357delC c.(355-357)ccfs p.P119fs EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 119 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CCGCAAGGCTGGGGGGGCTCT 0.647 7 505 --- --- --- --- PLCE1 51196 broad.mit.edu 37 10 95791760 95791760 + Frame_Shift_Del DEL G G - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr10:95791760delG ENST00000260766.3 + 2 1591 c.957delG c.(955-957)aafs p.K319fs PLCE1_ENST00000371380.2_Frame_Shift_Del_p.K319fs NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 319 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AAAGCAAAAAGGAGCGATCCA 0.388 64 404 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513670 35513670 + Frame_Shift_Del DEL C C - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr11:35513670delC ENST00000378880.2 - 3 747 c.302delG c.(301-303)gtfs p.G101fs PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 ATCCAAGGTACCCCCCCATGA 0.517 8 1136 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 7 397 --- --- --- --- ANKRD49 54851 broad.mit.edu 37 11 94230058 94230059 + Frame_Shift_Ins INS - - A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr11:94230058_94230059insA ENST00000544253.1 + 2 317_318 c.199_200insA c.(199-201)aaafs p.K67fs ANKRD49_ENST00000544612.1_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000540349.1_Frame_Shift_Ins_p.K67fs|ANKRD49_ENST00000302755.4_Frame_Shift_Ins_p.K67fs Q8WVL7 ANR49_HUMAN ankyrin repeat domain 49 67 positive regulation of transcription, DNA-dependent autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1) 12 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TCGATTGCAAGAAAAAAAAATG 0.381 10 425 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115080312 115080314 + In_Frame_Del DEL TGG TGG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr11:115080312_115080314delTGG ENST00000537058.1 - 8 1078_1080 c.1058_1060delCCA c.(1057-1062)atc>a p.TI353del CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 353 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) atggtaaggatggtggtggtggt 0.429 12 317 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 14 872 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26640046 26640046 + Frame_Shift_Del DEL T T - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:26640046delT ENST00000381340.3 - 40 5925 c.5509delA c.(5509-5511)ggfs p.R1837fs NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1837 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCATCGTCCCTTTTTTTGTTA 0.358 7 406 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 9 742 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 12 378 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88566417 88566417 + Frame_Shift_Del DEL T T - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:88566417delT ENST00000266712.6 + 8 1314 c.1094delT c.(1093-1095)ctfs p.L365fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 365 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GCATCGAACCTTTTTTTTCCA 0.313 7 589 --- --- --- --- PPTC7 160760 broad.mit.edu 37 12 111020740 111020742 + In_Frame_Del DEL CGC CGC - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr12:111020740_111020742delCGC ENST00000354300.3 - 1 383_385 c.95_97delGCG c.(94-99)gac>g p.GD32del NM_139283.1 NP_644812.1 Q8NI37 PPTC7_HUMAN PTC7 protein phosphatase homolog (S. cerevisiae) 32 Gly-rich. metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 AGTCCGTAGTcgccgccgccgcc 0.739 5 9 --- --- --- --- RNASEH2B 79621 broad.mit.edu 37 13 51530587 51530587 + Frame_Shift_Del DEL A A - rs75254367 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr13:51530587delA ENST00000336617.3 + 11 1315 c.916delA c.(916-918)aafs p.K308fs RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron NM_024570.3 NP_078846.2 Q5TBB1 RNH2B_HUMAN ribonuclease H2, subunit B 308 RNA catabolic process nucleus|ribonuclease H2 complex endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;9e-08) GGTAAAAAATAAAAAAAAAAT 0.299 10 213 --- --- --- --- SALL2 6297 broad.mit.edu 37 14 21991334 21991336 + In_Frame_Del DEL GGT GGT - rs113881459 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr14:21991334_21991336delGGT ENST00000327430.3 - 2 2820_2822 c.2526_2528delACC c.(2524-2529)cct>cc p.PP842del SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del|SALL2_ENST00000317492.5_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 842 Poly-Pro. DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CAGGCTGTCAGGTGGTGGTGGTG 0.571 10 419 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23528502 23528503 + Frame_Shift_Del DEL TC TC - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr14:23528502_23528503delTC ENST00000262710.1 - 19 4207_4208 c.3880_3881delGA c.(3880-3882)afs p.E1294fs ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1294 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ccgctccctttctctctctctc 0.629 OREG0022595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 186 --- --- --- --- IPO4 79711 broad.mit.edu 37 14 24655611 24655611 + Frame_Shift_Del DEL A A - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr14:24655611delA ENST00000354464.6 - 10 1063 c.887delT c.(886-888)tcfs p.F296fs RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 296 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) CACAATGGGGAAAAGGGTGTG 0.567 9 764 --- --- --- --- ARHGAP5 394 broad.mit.edu 37 14 32562544 32562545 + Frame_Shift_Ins INS - - T TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr14:32562544_32562545insT ENST00000345122.3 + 2 2984_2985 c.2669_2670insT c.(2668-2670)gttfs p.V890fs ARHGAP5_ENST00000539826.2_Frame_Shift_Ins_p.V890fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Ins_p.V890fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Ins_p.V890fs NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 890 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding p.F892fs*9(2)|p.D890V(1) NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AGCCAAGCAGATTTTTTTGAAA 0.406 87 334 --- --- --- --- YY1 7528 broad.mit.edu 37 14 100705708 100705710 + In_Frame_Del DEL GAG GAG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr14:100705708_100705710delGAG ENST00000262238.4 + 1 387_389 c.127_129delGAG c.(127-129)del p.E47del NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 47 Asp/Glu-rich (acidic). cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.E43delE(1) cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) AGTggtgggcgaggaggaggagg 0.719 7 68 --- --- --- --- FAM214A 56204 broad.mit.edu 37 15 52901069 52901069 + Frame_Shift_Del DEL T T - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr15:52901069delT ENST00000261844.7 - 6 2194 c.2042delA c.(2041-2043)atfs p.N681fs FAM214A_ENST00000546305.2_Frame_Shift_Del_p.N688fs NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 681 TTTTGAGTCATTTTTTTTGGA 0.284 11 261 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974511 93974513 + RNA DEL TTT TTT - rs57286078 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr15:93974511_93974513delTTT ENST00000543286.1 + 0 545 GGCTGGGTTCttttttttttttt 0.433 9 71 --- --- --- --- PRRT2 112476 broad.mit.edu 37 16 29825016 29825016 + Frame_Shift_Del DEL C C - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr16:29825016delC ENST00000300797.6 + 2 815 c.641delC c.(640-642)gcfs p.A214fs PRRT2_ENST00000567659.1_Frame_Shift_Del_p.A214fs|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000358758.7_Frame_Shift_Del_p.A214fs|AC009133.20_ENST00000569039.1_RNA Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 214 Pro-rich. A -> AP (in Ref. 3; CAD38881). response to biotic stimulus integral to membrane p.R217fs*12(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 GCCAATGGGGCCCCCCCCCGA 0.652 7 107 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30977566 30977567 + Frame_Shift_Del DEL AG AG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr16:30977566_30977567delAG ENST00000262519.8 + 8 3050_3051 c.2364_2365delAG c.(2362-2367)gcgcfs p.AG788fs NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 788 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 TCCCGACAGCAGGCACCGTGGG 0.658 36 118 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 7 571 --- --- --- --- GAS7 8522 broad.mit.edu 37 17 9923188 9923189 + Frame_Shift_Ins INS - - A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:9923188_9923189insA ENST00000396115.1 - 2 339_340 c.29_30insT c.(28-30)cggfs p.R10fs GAS7_ENST00000579158.1_Frame_Shift_Ins_p.R22fs|GAS7_ENST00000542249.1_Frame_Shift_Ins_p.R15fs|GAS7_ENST00000585266.1_Frame_Shift_Ins_p.R6fs|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000540214.1_Frame_Shift_Ins_p.R6fs|GAS7_ENST00000432992.2_Frame_Shift_Ins_p.R70fs|GAS7_ENST00000437099.2_Frame_Shift_Ins_p.R6fs|GAS7_ENST00000323816.4_Frame_Shift_Ins_p.R6fs NM_201432.1 NP_958836.1 O60861 GAS7_HUMAN growth arrest-specific 7 70 SH3. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 TTTCTTCTCCCGGCGGAGGGGG 0.540 T MLL AML* 79 169 --- --- --- --- KRTAP9-9 81870 broad.mit.edu 37 17 39411670 39411671 + In_Frame_Ins INS - - ACCTGCTGCAGGACC rs58108918 TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:39411670_39411671insACCTGCTGCAGGACC ENST00000394008.1 + 1 35_36 c.33_34insACCTGCTGCAGGACC c.(31-36)cccctg>ccACCTGCTGCAGGACCcctg p.10_11insPPAAG NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 10 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCTGTCAGCCTACCTGCTGCAG 0.604 17 286 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49077041 49077041 + Frame_Shift_Del DEL T T - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:49077041delT ENST00000262013.7 - 14 1853 c.1645delA c.(1645-1647)ggfs p.R549fs SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 549 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm p.R535fs*28(1) NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) ATGCTTGACCTTTTTTTTTCC 0.323 14 158 --- --- --- --- TEX2 55852 broad.mit.edu 37 17 62291438 62291440 + In_Frame_Del DEL TCC TCC - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:62291438_62291440delTCC ENST00000258991.3 - 2 222_224 c.138_140delGGA c.(136-141)gaa>ga p.EE50del TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del Q8IWB9 TEX2_HUMAN testis expressed 2 50 Poly-Glu. signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) ctcctcctcttcctcctcctcct 0.552 8 379 --- --- --- --- TNRC6C 57690 broad.mit.edu 37 17 76046980 76046980 + Frame_Shift_Del DEL A A - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr17:76046980delA ENST00000335749.4 + 3 2406 c.1837delA c.(1837-1839)aafs p.K614fs TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 614 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GGGGGATGGGAAAAAAAATGG 0.522 8 490 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:9361741delT ENST00000456448.1 + 1 136 c.22delT c.(22-24)ttfs p.F11fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCCAATTCTCTTTTTTTTTTT 0.388 8 48 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 11 933 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20243404 20243405 + RNA DEL AC AC - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:20243404_20243405delAC ENST00000590606.1 - 0 188 CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA TCCCTGGAAAACACACACACAC 0.411 16 350 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del ERF_ENST00000440177.2_In_Frame_Del_p.SS296del|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 8 577 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del 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) 11 232 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21142454 21142455 + RNA INS - - C rs45603533 by1000genomes TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr20:21142454_21142455insC ENST00000591761.1 - 0 5142 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA AAAAAAAAAAACCCCACCTAAT 0.376 27 46 --- --- --- --- FOXA2 3170 broad.mit.edu 37 20 22562673 22562675 + In_Frame_Del DEL GTT GTT - rs1212275 byFrequency TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr20:22562673_22562675delGTT ENST00000419308.2 - 2 1389_1391 c.1187_1189delAAC c.(1186-1191)ccc>c p.QP396del FOXA2_ENST00000319993.4_In_Frame_Del_p.QP402del|FOXA2_ENST00000377115.4_In_Frame_Del_p.QP396del NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 396 Transactivation domain 2 (By similarity). cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) ATTTTGTGGGGTtggtggtggtg 0.601 7 428 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 15 515 --- --- --- --- DDX27 55661 broad.mit.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr20:47858504delA ENST00000371764.4 + 17 2074 c.2065delA c.(2065-2067)aafs p.K691fs ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 691 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.K691fs*4(3) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAAGGATGCCAAAAAAAAGGG 0.488 8 407 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 11 1357 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 13 408 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36689419 36689421 + In_Frame_Del DEL CCT CCT - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 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 7 334 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 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 7 490 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 7 361 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 11 162 --- --- --- --- SSX3 10214 broad.mit.edu 37 X 48209463 48209463 + Frame_Shift_Del DEL G G - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:48209463delG ENST00000298396.2 - 6 477 c.425delC c.(424-426)cgfs p.P142fs SSX3_ENST00000376895.1_Frame_Shift_Del_p.P54fs|SSX3_ENST00000376893.3_Frame_Shift_Del_p.P142fs NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding p.P142Q(2) endometrium(3)|large_intestine(1)|lung(9) 13 TGGTTTTCCCGGGGGGCACAG 0.493 7 1316 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76778785 76778787 + In_Frame_Del DEL TCT TCT - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:76778785_76778787delTCT ENST00000373344.5 - 31 7006_7008 c.6792_6794delAGA c.(6790-6795)gag>ga p.EE2264del ATRX_ENST00000395603.3_In_Frame_Del_p.EE2226del|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2264 Poly-Glu. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTCAGTCAACTCTTCTTCTTCTT 0.369 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 1070 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994639 140994641 + In_Frame_Del DEL CTC CTC - rs144357389 byFrequency TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:140994639_140994641delCTC ENST00000285879.4 + 4 1735_1737 c.1449_1451delCTC c.(1447-1452)agc>ag p.SS487del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.473 HNSCC(15;0.026) 9 1182 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 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_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|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 7 252 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:149639633_149639635delGCA ENST00000370401.2 + 4 2098_2100 c.1788_1790delGCA c.(1786-1791)ctg>ct p.LQ596del MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 596 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCTTgcagctgcagcagcagcag 0.611 8 407 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR 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 1050 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 9 438 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 8 164 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx de369dbb-736e-4970-998d-a0470029653f cb472e98-8801-40f4-9c2c-6ebb03b41c40 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 8 29 --- --- --- ---