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 SCN3A 6328 broad.mit.edu 37 2 165947586 165947586 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:165947586C>G ENST00000360093.3 - 28 5568 c.5077G>C c.(5077-5079)Gag>Cag p.E1693Q AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.E176Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E1693Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1644Q NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1693 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CCAAAGGTCTCAAAGTTGAAC 0.448000 21 81 0 0 1 0 0 NOP56 10528 broad.mit.edu 37 20 2638598 2638598 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr20:2638598G>C ENST00000329276.5 + 12 1959 c.1443G>C c.(1441-1443)aaG>aaC p.K481N NOP56_ENST00000492135.1_3'UTR NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 481 Lys-rich. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 AACCCAAAAAGAAGAAAAAGC 0.443000 28 101 0 0 1 0 0 ZNF778 197320 broad.mit.edu 37 16 89294548 89294548 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:89294548G>A ENST00000433976.2 + 6 2100 c.1768G>A c.(1768-1770)Gaa>Aaa p.E590K RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.E548K NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 590 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) GAAACCTTATGAATGTAAAGT 0.443000 16 47 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14947427 14947427 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:14947427C>G ENST00000287667.7 + 8 1010 c.839C>G c.(838-840)tCt>tGt p.S280C NOMO1_ENST00000566883.1_3'UTR NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 280 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 GGCTCGTTCTCTTTCTATTCC 0.502000 46 164 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62271135 62271135 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:62271135C>T ENST00000258991.3 - 4 2044 c.1960G>A c.(1960-1962)Gag>Aag p.E654K TEX2_ENST00000584379.1_Missense_Mutation_p.E654K|TEX2_ENST00000583097.1_Missense_Mutation_p.E654K Q8IWB9 TEX2_HUMAN testis expressed 2 654 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) TCTGAAGTCTCCTTATCAGTC 0.478000 5 136 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64877818 64877818 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:64877818G>C ENST00000545908.1 + 3 534 c.305G>C c.(304-306)aGa>aCa p.R102T MTHFD1_ENST00000216605.8_Missense_Mutation_p.R46T P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 46 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GTTGGCAACAGAGATGATTCC 0.408000 6 41 0 0 1 0 0 OR4F6 390648 broad.mit.edu 37 15 102346017 102346017 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:102346017C>T ENST00000328882.4 + 1 116 c.95C>T c.(94-96)tCa>tTa p.S32L NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S32L(1) breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CTCTTTTTCTCAGTGTTCTAT 0.507000 20 95 0 0 1 0 0 LOC494141 494141 broad.mit.edu 37 11 18231297 18231297 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:18231297G>A ENST00000527059.1 + 1 543 c.83G>A c.(82-84)aGa>aAa p.R28K RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.R28K|RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.R28K TTCGAAACAAGATATGTCACC 0.378000 4 16 0 0 1 0 0 EFS 10278 broad.mit.edu 37 14 23826696 23826696 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:23826696C>G ENST00000216733.3 - 6 2032 c.1425G>C c.(1423-1425)aaG>aaC p.K475N EFS_ENST00000429593.2_Missense_Mutation_p.K306N|EFS_ENST00000351354.3_Missense_Mutation_p.K382N NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 475 Divergent helix-loop-helix motif. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) CCACCACCCTCTTGCTGTGGG 0.647000 10 24 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92523307 92523307 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:92523307G>C ENST00000298047.6 + 7 4551 c.4534G>C c.(4534-4536)Gac>Cac p.D1512H FAT3_ENST00000409404.2_Missense_Mutation_p.D1512H|FAT3_ENST00000525166.1_Missense_Mutation_p.D1362H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1512 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTCCGGATTGACCCTAGCAC 0.488000 TCGA Ovarian(4;0.039) 21 61 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82366753 82366753 + Missense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:82366753C>A ENST00000509081.1 - 8 1073 c.852G>T c.(850-852)atG>atT p.M284I RASGEF1B_ENST00000335927.7_Missense_Mutation_p.M243I|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.M285I Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 285 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 AATACTCAATCATTCTTGCTC 0.388000 16 65 8.60227e-14 9.18921e-14 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62284479 62284479 + Missense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:62284479C>A ENST00000378024.4 - 5 17684 c.17410G>T c.(17410-17412)Ggg>Tgg p.G5804W AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5804 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GACACTTCCCCACCTTCAAAC 0.483000 18 45 5.35267e-07 5.56366e-07 1 1 0 UBE2T 29089 broad.mit.edu 37 1 202302415 202302415 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:202302415G>C ENST00000367274.4 - 5 483 c.334C>G c.(334-336)Cag>Gag p.Q112E NM_014176.3 NP_054895.1 Q9NPD8 UBE2T_HUMAN ubiquitin-conjugating enzyme E2T (putative) 112 DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination nucleoplasm ATP binding|ubiquitin-protein ligase activity large_intestine(1)|lung(3)|skin(1) 5 ATGAGCAGCTGAATAGAGGTC 0.433000 9 161 0 0 1 0 0 KLHL42 57542 broad.mit.edu 37 12 27933986 27933986 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:27933986C>G ENST00000381271.2 + 1 1034 c.723C>G c.(721-723)gtC>gtG p.V241V RP11-860B13.1_ENST00000545904.1_RNA NM_020782.1 NP_065833.1 kelch-like family member 42 CCGACCTGGTCAATGTCAGGG 0.602000 5 17 0 0 1 0 0 CTC1 80169 broad.mit.edu 37 17 8146437 8146437 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:8146437G>C ENST00000315684.8 - 2 70 c.63C>G c.(61-63)gtC>gtG p.V21V CTC1_ENST00000581671.1_Intron NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 21 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 TTTGGATGAAGACCTGAGCAT 0.463000 5 19 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160753407 160753407 + Missense_Mutation SNP G G A rs140795978 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:160753407G>A ENST00000274547.2 - 10 1376 c.1159C>T c.(1159-1161)Cgg>Tgg p.R387W GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.R387W|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Intron NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 387 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ttggtagtccgtctagttggg 0.383000 14 66 0 0 1 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815353 179815353 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:179815353G>C ENST00000367612.3 - 6 1653 c.1266C>G c.(1264-1266)ctC>ctG p.L422L TOR1AIP2_ENST00000609928.1_Silent_p.L422L NM_145034.4 NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 422 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 ACTTGGCCCAGAGTAAGTCTC 0.493000 27 56 0 0 1 0 0 PGLYRP1 8993 broad.mit.edu 37 19 46522604 46522604 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:46522604C>T ENST00000008938.4 - 3 526 c.483G>A c.(481-483)ctG>ctA p.L161L CCDC61_ENST00000601763.1_Intron NM_005091.2 NP_005082.1 O75594 PGRP1_HUMAN peptidoglycan recognition protein 1 161 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|ovary(2) 10 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) AGTTGGACCTCAGGGCTCCCT 0.622000 4 15 0 0 1 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468986 35468986 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr21:35468986G>C ENST00000608209.1 + 2 2001 c.1489G>C c.(1489-1491)Gac>Cac p.D497H SLC5A3_ENST00000381151.3_Missense_Mutation_p.D497H|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 CCCAGAATGTGACCAACCTGA 0.488000 11 50 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234243683 234243683 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:234243683G>C ENST00000409110.1 + 11 1112 c.882G>C c.(880-882)agG>agC p.R294S SAG_ENST00000449594.2_Missense_Mutation_p.R160S NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 294 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) ATCGAGAAAGGAGAGGCATTG 0.532000 7 33 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152787177 152787177 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:152787177C>T ENST00000367255.5 - 17 2270 c.1669G>A c.(1669-1671)Gag>Aag p.E557K SYNE1_ENST00000448038.1_Missense_Mutation_p.E564K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E564K|SYNE1_ENST00000495090.2_Missense_Mutation_p.E124K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E547K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E557K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E557K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E557K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E557K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E564K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 557 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.E557Q(2) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TATGTCACCTCATATTGTTCA 0.368000 HNSCC(10;0.0054) 7 37 0 0 1 0 0 CHRNB1 1140 broad.mit.edu 37 17 7351982 7351982 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:7351982G>A ENST00000306071.2 + 7 762 c.695G>A c.(694-696)cGc>cAc p.R232H CHRNB1_ENST00000536404.2_Missense_Mutation_p.R160H|CHRNB1_ENST00000576360.1_Missense_Mutation_p.R160H NM_000747.2 NP_000738.2 P11230 ACHB_HUMAN cholinergic receptor, nicotinic, beta 1 (muscle) 232 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) GAAGGACAGCGCCAGGAAGTC 0.562000 7 22 0 0 1 0 0 KLHL8 57563 broad.mit.edu 37 4 88106561 88106561 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:88106561C>T ENST00000273963.5 - 3 948 c.607G>A c.(607-609)Gaa>Aaa p.E203K KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.E203K|KLHL8_ENST00000498875.2_Missense_Mutation_p.E127K NM_020803.3 NP_065854.3 Q9P2G9 KLHL8_HUMAN kelch-like family member 8 203 breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) ACAAAGTCTTCACACTCCACT 0.423000 18 64 0 0 1 0 0 B3GNT1 11041 broad.mit.edu 37 11 66114591 66114591 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:66114591C>T ENST00000311181.4 - 1 572 c.426G>A c.(424-426)ctG>ctA p.L142L NM_006876.2 NP_006867.1 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 142 poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 12 AGTGGCTGCTCAGCGCGTAGG 0.731000 3 5 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67319084 67319084 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:67319084C>T ENST00000360461.5 + 12 4696 c.2161C>T c.(2161-2163)Cca>Tca p.P721S PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P721S|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P721S|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P640S NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 721 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) TACTGTGCCTCCACCAGGCAG 0.637000 7 17 0 0 1 0 0 CA5B 11238 broad.mit.edu 37 X 15800717 15800717 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:15800717C>G ENST00000318636.3 + 8 1020 c.884C>G c.(883-885)tCc>tGc p.S295C CA5B_ENST00000454127.2_Missense_Mutation_p.S295C NM_007220.3 NP_009151.1 Q9Y2D0 CAH5B_HUMAN carbonic anhydrase VB, mitochondrial 295 one-carbon metabolic process mitochondrion carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2) 9 Hepatocellular(33;0.183) GTTCGTTCATCCTTCCGGCAT 0.488000 11 16 0 0 1 0 0 SWSAP1 126074 broad.mit.edu 37 19 11485452 11485452 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:11485452C>G ENST00000312423.2 + 1 92 c.33C>G c.(31-33)ctC>ctG p.L11L CTD-2342J14.6_ENST00000590399.1_RNA NM_175871.3 NP_787067.2 Q6NVH7 CS039_HUMAN SWIM-type zinc finger 7 associated protein 1 11 TGCTGCTGCTCGGTACACCAG 0.672000 7 11 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356749 37356749 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr20:37356749G>A ENST00000217420.1 + 2 1308 c.1045G>A c.(1045-1047)Gtg>Atg p.V349M NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 349 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CGCAGCCTGCGTGCTCAAGGG 0.622000 10 23 0 0 1 0 0 SARS 6301 broad.mit.edu 37 1 109777857 109777857 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:109777857C>T ENST00000369923.4 + 7 784 c.773C>T c.(772-774)tCt>tTt p.S258F SARS_ENST00000234677.2_Missense_Mutation_p.S258F P49591 SYSC_HUMAN seryl-tRNA synthetase 258 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) AGTGAAAAGTCTGATGACAAC 0.532000 19 70 0 0 1 0 0 NFKBIA 4792 broad.mit.edu 37 14 35872475 35872475 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:35872475C>G ENST00000216797.5 - 3 529 c.428G>C c.(427-429)cGa>cCa p.R143P NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_Missense_Mutation_p.R53P|NFKBIA_ENST00000557140.1_Missense_Mutation_p.R143P NM_020529.2 NP_065390.1 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 143 anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding p.R143fs*11(2) breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) GGTATTTCCTCGAAAGTCTCG 0.592000 4 58 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8143645 8143645 + Splice_Site SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:8143645G>A ENST00000332175.8 + 14 3205 c.2168G>A c.(2167-2169)gGa>gAa p.G723E PTPRM_ENST00000580170.1_Splice_Site_p.G723E|PTPRM_ENST00000400060.4_Splice_Site_p.G723E|PTPRM_ENST00000400053.4_Splice_Site_p.G661E|PTPRM_ENST00000444013.1_Splice_Site_p.G510E NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 723 homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) TCATCTTCAGGAGCTGCCACT 0.418000 11 38 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9516140 9516140 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:9516140C>T ENST00000402466.1 + 22 3979 c.3211C>T c.(3211-3213)Ccc>Tcc p.P1071S SETD5_ENST00000406341.1_Missense_Mutation_p.P1169S|SETD5_ENST00000407969.1_Missense_Mutation_p.P1188S|SETD5_ENST00000302463.6_Missense_Mutation_p.P1071S|SETD5_ENST00000402198.1_Missense_Mutation_p.P1169S Q9C0A6 SETD5_HUMAN SET domain containing 5 1169 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CAGGATGGTTCCCACATCAGT 0.517000 12 40 0 0 1 0 0 HAND1 9421 broad.mit.edu 37 5 153857170 153857170 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:153857170G>C ENST00000231121.2 - 1 654 c.399C>G c.(397-399)atC>atG p.I133M NM_004821.2 NP_004812.1 O96004 HAND1_HUMAN heart and neural crest derivatives expressed 1 133 Helix-loop-helix motif. angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis cytoplasm|nucleolus|nucleoplasm bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GCAGAGTCTTGATCTTGGAGA 0.597000 16 44 0 0 1 0 0 TAS2R39 259285 broad.mit.edu 37 7 142881470 142881470 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:142881470G>A ENST00000446620.1 + 1 959 c.959G>A c.(958-960)aGa>aAa p.R320K NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 320 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) GGGCTGAGAAGAGCCTGGAAG 0.507000 6 16 0 0 1 0 0 SLC6A15 55117 broad.mit.edu 37 12 85285857 85285857 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:85285857C>T ENST00000450363.3 - 2 501 c.43G>A c.(43-45)Gat>Aat p.D15N SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000266682.5_Missense_Mutation_p.D15N NM_018057.6 NP_060527.2 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 15 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 TCAGTAACATCATCATCTAAT 0.358000 13 74 0 0 1 0 0 GBE1 2632 broad.mit.edu 37 3 81810576 81810576 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:81810576G>C ENST00000429644.2 - 1 736 c.93C>G c.(91-93)ctC>ctG p.L31L NM_000158.3 NP_000149 Q04446 GLGB_HUMAN glucan (1,4-alpha-), branching enzyme 1 31 glucose metabolic process|glycogen biosynthetic process cytosol 1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(201;0.0117) UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247) CGATCTCCAGGAGTCTGGCCA 0.677000 Glycogen Storage Disease, type IV 6 37 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49441751 49441751 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:49441751G>A ENST00000301067.7 - 14 4232 c.4233C>T c.(4231-4233)agC>agT p.S1411S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AACTCACCTTGCTGTTGACAC 0.552000 5 19 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140438009 140438009 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:140438009C>G ENST00000406427.1 - 6 717 c.381G>C c.(379-381)aaG>aaC p.K127N PNPLA7_ENST00000277531.4_Missense_Mutation_p.K102N NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 102 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GGTATTCCTTCTTGAAACGCA 0.592000 7 24 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53212465 53212465 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:53212465C>T ENST00000394729.2 + 2 355 c.27C>T c.(25-27)ttC>ttT p.F9F PRKCD_ENST00000330452.3_Silent_p.F9F|PRKCD_ENST00000477794.2_3'UTR NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 9 C2. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GCATCGCCTTCAACTCCTATG 0.677000 14 22 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113649141 113649141 + Nonsense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:113649141G>C ENST00000297405.5 - 22 3864 c.3620C>G c.(3619-3621)tCa>tGa p.S1207* CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S1207*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S1103*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S1167* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1207 Sushi 6. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CGAAGAGCATGAGAAGGTCAG 0.488000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 32 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91690718 91690718 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:91690718G>C ENST00000359028.2 + 24 6007 c.5782G>C c.(5782-5784)Gag>Cag p.E1928Q AKAP9_ENST00000356239.3_Missense_Mutation_p.E1916Q|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1928Q Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1928 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GCTAGCTGTGGAGCTCAGTAA 0.458000 T BRAF papillary thyroid 4 30 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7584896 7584896 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7584896C>T ENST00000379802.3 + 24 7742 c.7401C>T c.(7399-7401)gtC>gtT p.V2467V DSP_ENST00000418664.2_Silent_p.V1868V NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2467 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GTAGAGTGGTCATAGTTGACC 0.428000 16 48 0 0 1 0 0 NUCB1 4924 broad.mit.edu 37 19 49422373 49422373 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:49422373G>A ENST00000405315.4 + 9 1237 c.903G>A c.(901-903)atG>atA p.M301I NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.M301I|NUCB1_ENST00000263273.5_Missense_Mutation_p.M301I NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 301 Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2. ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) AGCATGTGATGAAGAATGTGA 0.622000 5 15 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156933341 156933341 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:156933341C>G ENST00000368194.3 - 12 2048 c.1009G>C c.(1009-1011)Gac>Cac p.D337H ARHGEF11_ENST00000361409.2_Missense_Mutation_p.D297H NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 297 RGSL. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGGTCATAGTCTTCCTCTGGG 0.428000 11 72 0 0 1 0 0 SP7 121340 broad.mit.edu 37 12 53722239 53722239 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:53722239G>C ENST00000536324.2 - 3 1270 c.987C>G c.(985-987)ctC>ctG p.L329L SP7_ENST00000537210.2_Silent_p.L311L|SP7_ENST00000303846.3_Silent_p.L329L NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 TGCCGCAGAAGAGCCAGTTGC 0.617000 14 36 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74825508 74825508 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:74825508C>T ENST00000256362.4 + 2 2263 c.2022C>T c.(2020-2022)ttC>ttT p.F674F NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 674 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 ACAAGGAGTTCAGTGCCCTCT 0.557000 17 48 0 0 1 0 0 EDA 1896 broad.mit.edu 37 X 69253326 69253326 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:69253326G>C ENST00000374552.4 + 7 1114 c.872G>C c.(871-873)gGg>gCg p.G291A EDA_ENST00000524573.1_Missense_Mutation_p.G288A|EDA_ENST00000374553.2_Missense_Mutation_p.G291A NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 291 G -> R (in ED1).|G -> W (in ED1). cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 CCCCGCAGCGGGGAGCTGGAG 0.498000 OREG0019847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 22 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147096275 147096275 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:147096275C>T ENST00000234739.3 + 10 4536 c.3796C>T c.(3796-3798)Cct>Tct p.P1266S NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1266 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) GCCCCAGGGTCCTGGACCTGG 0.562000 T """IGH@, IGL@""" B-ALL 6 28 0 0 1 0 0 TNFRSF10C 8794 broad.mit.edu 37 8 22972214 22972214 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:22972214G>A ENST00000356864.3 + 3 743 c.211G>A c.(211-213)Gag>Aag p.E71K TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_5'UTR NM_003841.3 NP_003832 O14798 TR10C_HUMAN tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain 71 apoptosis anchored to membrane|integral to plasma membrane TRAIL binding|transmembrane receptor activity endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) CCCGTGCACAGAGGGTGTGGA 0.473000 16 37 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187005261 187005261 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:187005261C>G ENST00000296795.3 + 4 2525 c.2421C>G c.(2419-2421)atC>atG p.I807M TLR3_ENST00000504367.1_Missense_Mutation_p.I530M NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 TIR. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TTAACAGCATCAAAAGAAGCA 0.333000 18 39 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11301018 11301018 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:11301018C>G ENST00000397056.1 + 3 486 c.295C>G c.(295-297)Ctc>Gtc p.L99V HRH1_ENST00000431010.2_Missense_Mutation_p.L99V|HRH1_ENST00000438284.2_Missense_Mutation_p.L99V NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 99 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GGGCCGTCCTCTCTGCCTCTT 0.562000 8 142 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160143888 160143888 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:160143888G>C ENST00000357388.3 + 17 2956 c.2505G>C c.(2503-2505)ttG>ttC p.L835F RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.L835F|SMC4_ENST00000344722.5_Missense_Mutation_p.L835F|SMC4_ENST00000469762.1_Missense_Mutation_p.L810F|SMC4_ENST00000360111.2_Missense_Mutation_p.L835F NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 835 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AAGAATATTTGAATGTCCAAG 0.308000 13 186 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49445386 49445386 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:49445386C>T ENST00000301067.7 - 10 2079 c.2080G>A c.(2080-2082)Gag>Aag p.E694K NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGGAGTCCTCAGGTGGTGGG 0.662000 10 41 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37884151 37884151 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:37884151C>T ENST00000406381.2 + 29 4042 c.3532C>T c.(3532-3534)Cac>Tac p.H1178Y ERBB2_ENST00000269571.5_Missense_Mutation_p.H1208Y|ERBB2_ENST00000541774.1_Missense_Mutation_p.H1193Y|ERBB2_ENST00000445658.2_Missense_Mutation_p.H932Y|ERBB2_ENST00000584601.1_Missense_Mutation_p.H1178Y|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000540147.1_Missense_Mutation_p.H1178Y NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 1208 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 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) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CCCTCAGCCCCACCCTCCTCC 0.627000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 5 34 0 0 1 0 0 PAK2 5062 broad.mit.edu 37 3 196509551 196509551 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:196509551C>G ENST00000327134.3 + 2 356 c.34C>G c.(34-36)Cca>Gca p.P12A NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 12 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) AGATAAGCCTCCAGCACCTCC 0.423000 13 176 0 0 1 0 0 PIFO 128344 broad.mit.edu 37 1 111889669 111889669 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:111889669G>A ENST00000369738.4 + 2 522 c.157G>A c.(157-159)Gat>Aat p.D53N PIFO_ENST00000369737.4_Missense_Mutation_p.D53N|PIFO_ENST00000484512.1_3'UTR NM_181643.4 NP_857594.2 primary cilia formation TTATTTTTCAGATGTGAGTAT 0.463000 8 32 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131926586 131926586 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:131926586C>T ENST00000403834.3 - 14 1598 c.1425G>A c.(1423-1425)atG>atA p.M475I MED23_ENST00000540546.1_Missense_Mutation_p.M475I|MED23_ENST00000368068.3_Missense_Mutation_p.M469I|MED23_ENST00000368058.1_Missense_Mutation_p.M475I|MED23_ENST00000368053.4_Missense_Mutation_p.M475I|MED23_ENST00000354577.4_Missense_Mutation_p.M475I|MED23_ENST00000368060.3_Missense_Mutation_p.M469I|MED23_ENST00000539158.1_Intron|MED23_ENST00000545957.1_Missense_Mutation_p.M110I Q9ULK4 MED23_HUMAN mediator complex subunit 23 469 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) TATAGTCATTCATCTGTAAAC 0.303000 4 23 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94748436 94748436 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:94748436G>A ENST00000399300.2 - 3 416 c.203C>T c.(202-204)tCt>tTt p.S68F RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.S68F NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 68 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GAGCTCTACAGATGAATCCTT 0.423000 18 89 0 0 1 0 0 TBRG4 9238 broad.mit.edu 37 7 45145091 45145091 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:45145091C>T ENST00000258770.3 - 3 805 c.684G>A c.(682-684)atG>atA p.M228I TBRG4_ENST00000361278.3_Missense_Mutation_p.M228I|TBRG4_ENST00000395655.4_Missense_Mutation_p.M228I|TBRG4_ENST00000494076.1_Missense_Mutation_p.M228I NM_004749.3 NP_004740.2 Q969Z0 TBRG4_HUMAN transforming growth factor beta regulator 4 228 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2) 17 CCACCTTCATCATGACGGTCA 0.572000 20 93 0 0 1 0 0 ECI2 10455 broad.mit.edu 37 6 4126371 4126371 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:4126371C>T ENST00000465828.1 - 6 867 c.582G>A c.(580-582)ctG>ctA p.L194L ECI2_ENST00000413766.2_Silent_p.L57L|ECI2_ENST00000380118.3_Silent_p.L224L|ECI2_ENST00000361538.2_Silent_p.L194L|C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000380125.2_Silent_p.L194L O75521 ECI2_HUMAN enoyl-CoA delta isomerase 2 224 ECH-like. fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 11 ACTCTTACCTCAGTAAAACGG 0.418000 6 23 0 0 1 0 0 PNP 4860 broad.mit.edu 37 14 20943019 20943019 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:20943019G>C ENST00000361505.5 + 4 519 c.373G>C c.(373-375)Gag>Cag p.E125Q RP11-203M5.8_ENST00000554678.1_lincRNA NM_000270.3 NP_000261.2 P00491 PNPH_HUMAN purine nucleoside phosphorylase 125 immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process cytoskeleton|cytosol drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2) 10 Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033) CCCCAAGTTTGAGGTTGGAGA 0.502000 11 25 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131767807 131767807 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:131767807C>G ENST00000372577.2 + 40 4756 c.4735C>G c.(4735-4737)Cag>Gag p.Q1579E NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1579 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TCTGCTGGATCAGGTACTGCC 0.577000 9 88 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76262775 76262775 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:76262775C>G ENST00000263187.3 + 1 209 c.105C>G c.(103-105)ctC>ctG p.L35L NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 35 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 ATTTCGGACTCCAGGAGACTC 0.647000 Mismatch excision repair (MMR) 6 15 0 0 1 0 0 GLB1L 79411 broad.mit.edu 37 2 220107897 220107897 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:220107897C>T ENST00000295759.7 - 3 525 c.212G>A c.(211-213)cGa>cAa p.R71Q GLB1L_ENST00000356283.3_Missense_Mutation_p.R71Q|GLB1L_ENST00000392089.2_Missense_Mutation_p.R71Q|GLB1L_ENST00000409640.1_Missense_Mutation_p.R71Q Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 71 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) GCCGCTCCATCGCATCTTCAA 0.582000 18 33 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1891341 1891341 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:1891341C>G ENST00000399161.2 - 17 3308 c.2561G>C c.(2560-2562)aGa>aCa p.R854T MYT1L_ENST00000428368.2_Missense_Mutation_p.R852T NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 854 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGGATACCGTCTTTCTTCTAG 0.527000 5 71 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115931946 115931946 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:115931946C>G ENST00000238256.3 - 26 3160 c.3043G>C c.(3043-3045)Gag>Cag p.E1015Q NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 1015 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 GAGAGTGCCTCAGCTTCTGAG 0.577000 4 20 0 0 1 0 0 NRDE2 55051 broad.mit.edu 37 14 90770438 90770438 + Nonsense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:90770438C>T ENST00000354366.3 - 5 1078 c.846G>A c.(844-846)tgG>tgA p.W282* NRDE2_ENST00000357904.3_Nonsense_Mutation_p.W51* NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing GTCCTTGTAGCCAATGTGTGG 0.522000 17 53 0 0 1 0 0 TATDN2 9797 broad.mit.edu 37 3 10290962 10290962 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:10290962C>G ENST00000287652.4 + 2 1129 c.78C>G c.(76-78)ctC>ctG p.L26L TATDN2_ENST00000448281.2_Silent_p.L26L NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 26 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GCAGCTGCCTCCGGGAGCCCT 0.687000 19 44 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94059612 94059612 + Silent SNP A A G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:94059612A>G ENST00000297268.6 + 52 4479 c.4008A>G c.(4006-4008)ccA>ccG p.P1336P NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1336 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CAAATAAGCCATCACGCCTGC 0.383000 HNSCC(75;0.22) 27 84 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 49825136 49825136 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:49825136G>A ENST00000451037.2 - 4 1262 c.322C>T c.(322-324)Cgc>Tgc p.R108C CA10_ENST00000285273.4_Missense_Mutation_p.R108C|CA10_ENST00000442502.2_Missense_Mutation_p.R108C|CA10_ENST00000570565.1_Missense_Mutation_p.R33C|CA10_ENST00000340813.6_Missense_Mutation_p.R114C|CA10_ENST00000571918.1_5'UTR NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 108 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TTGTCCAGGCGAAGGGATACG 0.542000 16 62 0 0 1 0 0 PIGW 284098 broad.mit.edu 37 17 34893934 34893934 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:34893934G>C ENST00000592983.1 + 2 1564 c.984G>C c.(982-984)aaG>aaC p.K328N MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.K328N Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan anchor biosynthesis, class W 328 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATATGCATAAGAACCGATCAC 0.403000 11 60 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27087386 27087386 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:27087386G>A ENST00000324856.7 + 5 2331 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K ARID1A_ENST00000374152.2_Missense_Mutation_p.E271K|ARID1A_ENST00000457599.2_Missense_Mutation_p.E654K NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 654 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CATGGGGACAGAAGGAGCTCT 0.448000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 8 32 0 0 1 0 0 NOVA2 4858 broad.mit.edu 37 19 46443157 46443157 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:46443157C>G ENST00000263257.5 - 4 1637 c.1443G>C c.(1441-1443)caG>caC p.Q481H NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 481 nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) CCCTCACTCCCTGCTCGTAGG 0.642000 9 23 0 0 1 0 0 OSBPL11 114885 broad.mit.edu 37 3 125257297 125257297 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:125257297G>A ENST00000296220.5 - 11 2311 c.2022C>T c.(2020-2022)tcC>tcT p.S674S NM_022776.4 NP_073613.2 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 674 lipid transport lipid binding NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 27 TGACATACCTGGATTCAAATG 0.433000 14 97 0 0 1 0 0 EXO1 9156 broad.mit.edu 37 1 242023908 242023908 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:242023908C>T ENST00000366548.3 + 9 1439 c.846C>T c.(844-846)ttC>ttT p.F282F EXO1_ENST00000518483.1_Silent_p.F282F|EXO1_ENST00000348581.5_Silent_p.F282F NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 282 Interaction with MSH3. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) ACAATACCTTCCTCTATCAGC 0.403000 Editing and processing nucleases 14 63 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369933 20369933 + RNA SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:20369933C>G ENST00000593655.1 - 0 199 GATCTGAATTCTACAAACACA 0.398000 7 28 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7981506 7981506 + Missense_Mutation SNP C C G rs144039243 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:7981506C>G ENST00000328600.2 - 2 1814 c.1653G>C c.(1651-1653)caG>caC p.Q551H NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 551 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TAGATTCCATCTGTTCTTTAA 0.393000 13 45 0 0 1 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056283 26056283 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:26056283C>T ENST00000343677.2 - 1 416 c.374G>A c.(373-375)gGa>gAa p.G125E NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 125 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 AGGTTTGGTTCCGCCCGCCTT 0.562000 15 73 0 0 1 0 0 RIF1 55183 broad.mit.edu 37 2 152320447 152320447 + Missense_Mutation SNP A A C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:152320447A>C ENST00000243326.5 + 29 4896 c.4413A>C c.(4411-4413)gaA>gaC p.E1471D RIF1_ENST00000444746.2_Missense_Mutation_p.E1471D|RIF1_ENST00000430328.2_Missense_Mutation_p.E1471D|RIF1_ENST00000428287.2_Missense_Mutation_p.E1471D|RIF1_ENST00000453091.2_Missense_Mutation_p.E1471D Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TGATTGCTGAACAAACTCTAC 0.328000 10 33 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102055962 102055962 + Missense_Mutation SNP A A C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:102055962A>C ENST00000318222.3 - 7 1655 c.1273T>G c.(1273-1275)Tat>Gat p.Y425D PKD2L1_ENST00000338519.3_Missense_Mutation_p.Y350D|PKD2L1_ENST00000353274.3_Missense_Mutation_p.Y425D NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 425 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) AAGTCTGCATACGTGTTTGGC 0.537000 4 40 0 0 1 0 0 LRCH1 23143 broad.mit.edu 37 13 47255931 47255931 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:47255931C>T ENST00000311191.6 + 4 864 c.635C>T c.(634-636)tCt>tTt p.S212F LRCH1_ENST00000389798.3_Missense_Mutation_p.S212F|LRCH1_ENST00000389797.3_Missense_Mutation_p.S212F NM_001164213.1 NP_001157685 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 212 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) CAGTTGAAATCTCTACGAGAA 0.378000 6 24 0 0 1 0 0 MRPL39 54148 broad.mit.edu 37 21 26966216 26966216 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr21:26966216G>C ENST00000307301.7 - 7 797 c.756C>G c.(754-756)gtC>gtG p.V252V MRPL39_ENST00000352957.4_Silent_p.V252V NM_080794.3 NP_542984 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 252 mitochondrial ribosome nucleotide binding endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 10 TGTGTAGCTTGACTATTCTCT 0.333000 6 24 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160585619 160585619 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:160585619G>A ENST00000259050.4 + 2 208 c.86G>A c.(85-87)aGa>aAa p.R29K MARCH7_ENST00000409175.1_Missense_Mutation_p.R29K|MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000539065.1_Missense_Mutation_p.R29K NM_001282805.1|NM_001282807.1|NM_022826.2 NP_001269734.1|NP_001269736.1|NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 TCTGGAAGCAGAGGAAGTAGT 0.348000 5 34 0 0 1 0 0 ZNF639 51193 broad.mit.edu 37 3 179051361 179051361 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:179051361C>G ENST00000326361.3 + 7 1054 c.609C>G c.(607-609)ctC>ctG p.L203L ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000484866.1_Silent_p.L203L|ZNF639_ENST00000496856.1_Silent_p.L203L NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 203 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) GCAGTGGCCTCTATAAATGTG 0.393000 13 80 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145625784 145625784 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:145625784C>G ENST00000349769.3 - 8 884 c.790G>C c.(790-792)Gac>Cac p.D264H NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 264 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) TGGGTGCAGTCAAAGGGCAGG 0.627000 12 21 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30704321 30704321 + Missense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:30704321C>A ENST00000256246.2 - 1 2287 c.2213G>T c.(2212-2214)gGa>gTa p.G738V NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 738 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATTCTCCCTTCCTGTGGTGCT 0.393000 13 65 5.50884e-06 5.67886e-06 1 1 0 CYP26B1 56603 broad.mit.edu 37 2 72360154 72360154 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:72360154C>G ENST00000001146.2 - 5 1347 c.1144G>C c.(1144-1146)Gat>Cat p.D382H CYP26B1_ENST00000412253.1_Missense_Mutation_p.D191H|CYP26B1_ENST00000546307.1_Missense_Mutation_p.D307H NM_001277742.1|NM_019885.2 NP_001264671.1|NP_063938.1 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily B, polypeptide 1 382 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2) 28 AGCCTCACATCAAGCTCGAAG 0.667000 3 24 0 0 1 0 0 ZNF724P 440519 broad.mit.edu 37 19 23405204 23405204 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:23405204C>T ENST00000418100.1 - 4 1960 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 TCAGATTTTTCTACAGCATGA 0.428000 3 17 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91726008 91726008 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:91726008G>A ENST00000359028.2 + 41 9972 c.9747G>A c.(9745-9747)ctG>ctA p.L3249L AKAP9_ENST00000356239.3_Silent_p.L3245L|AKAP9_ENST00000358100.2_Silent_p.L3195L Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3249 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCAGGATCTGAAGTTTTCAC 0.383000 T BRAF papillary thyroid 6 36 0 0 1 0 0 DIMT1 27292 broad.mit.edu 37 5 61694367 61694367 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:61694367G>C ENST00000199320.4 - 6 577 c.417C>G c.(415-417)ttC>ttG p.F139L KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Missense_Mutation_p.F139L NM_014473.2 NP_055288.1 Q9UNQ2 DIMT1_HUMAN DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae) 139 nucleolus RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity GCAACAGCTTGAAGACAAAAG 0.383000 23 98 0 0 1 0 0 HIST1H2BK 85236 broad.mit.edu 37 6 27114509 27114509 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:27114509C>T ENST00000396891.4 - 1 110 c.69G>A c.(67-69)caG>caA p.Q23Q HIST1H2BK_ENST00000356950.1_Silent_p.Q23Q NM_080593.2 NP_542160.1 O60814 H2B1K_HUMAN histone cluster 1, H2bk 23 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CGTCCTTCTTCTGCGCCTTAG 0.602000 15 136 0 0 1 0 0 C1orf21 81563 broad.mit.edu 37 1 184446658 184446658 + Silent SNP C C T rs148612527 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:184446658C>T ENST00000235307.6 + 2 450 c.15C>T c.(13-15)tcC>tcT p.S5S NM_030806.3 NP_110433.1 Q9H246 CA021_HUMAN chromosome 1 open reading frame 21 5 breast(1)|lung(1) 2 Breast(1374;0.00262) Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314) GCTGTGCCTCCGCCAAGCATG 0.463000 6 45 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44832328 44832328 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:44832328C>G ENST00000354340.4 - 4 2033 c.1982G>C c.(1981-1983)tGt>tCt p.C661S ZNF112_ENST00000536500.1_Missense_Mutation_p.C684S|ZNF112_ENST00000337401.4_Missense_Mutation_p.C667S NM_013380.3 NP_037512.3 zinc finger protein 112 ACATTCTTCACATTTATAGGG 0.443000 6 76 0 0 1 0 0 ACTN4 81 broad.mit.edu 37 19 39216366 39216366 + Missense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:39216366G>T ENST00000252699.2 + 17 2089 c.2013G>T c.(2011-2013)gaG>gaT p.E671D ACTN4_ENST00000390009.3_Missense_Mutation_p.E452D|ACTN4_ENST00000424234.2_Missense_Mutation_p.E281D NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 671 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCCCGTAGGAGATCGGGCGCA 0.652000 3 17 0.004672 0.00472386 1 1 0 CX3CR1 1524 broad.mit.edu 37 3 39306963 39306963 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:39306963C>T ENST00000541347.1 - 2 1277 c.1038G>A c.(1036-1038)acG>acA p.T346T CX3CR1_ENST00000358309.3_Silent_p.T378T|CX3CR1_ENST00000542107.1_Silent_p.T346T|CX3CR1_ENST00000399220.2_Silent_p.T346T NM_001171171.1 NP_001164642.1 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 346 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CTCCATCACTCGTGTGGTAAG 0.488000 34 78 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148457438 148457438 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:148457438G>C ENST00000325222.4 + 7 918 c.639G>C c.(637-639)ctG>ctC p.L213L CUL1_ENST00000409469.1_Silent_p.L213L|CUL1_ENST00000602748.1_Silent_p.L213L NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 213 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AATTGGGGCTGAATGAAGATG 0.338000 9 77 0 0 1 0 0 RNF111 54778 broad.mit.edu 37 15 59368241 59368241 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:59368241G>A ENST00000348370.4 + 7 2208 c.1775G>A c.(1774-1776)tGc>tAc p.C592Y RNF111_ENST00000559209.1_Missense_Mutation_p.C592Y|RNF111_ENST00000561186.1_Missense_Mutation_p.C592Y|RNF111_ENST00000434298.1_Missense_Mutation_p.C592Y|RNF111_ENST00000557998.1_Missense_Mutation_p.C592Y NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 592 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) GACCCCTGCTGCCCTGTTTCT 0.502000 16 57 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170175357 170175357 + Missense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:170175357C>A ENST00000263816.3 - 3 510 c.225G>T c.(223-225)caG>caT p.Q75H LRP2_ENST00000443831.1_Missense_Mutation_p.Q75H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 75 LDL-receptor class A 2. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTCCCTCACTCTGGCACTTGA 0.463000 5 31 1.23904e-05 1.27205e-05 1 1 0 TNXB 7148 broad.mit.edu 37 6 32050000 32050000 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:32050000C>T ENST00000375244.3 - 9 3750 c.3549G>A c.(3547-3549)gaG>gaA p.E1183E TNXB_ENST00000375247.2_Silent_p.E1183E P22105 TENX_HUMAN tenascin XB 1270 Fibronectin type-III 4. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CAAACTGGCCCTCAGGGACAG 0.597000 7 17 0 0 1 0 0 NEIL3 55247 broad.mit.edu 37 4 178274579 178274579 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:178274579G>A ENST00000264596.3 + 8 1275 c.1157G>A c.(1156-1158)gGa>gAa p.G386E RP11-376O6.2_ENST00000506895.1_RNA NM_018248.2 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 386 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) ACTGCATTTGGAACTACAACT 0.343000 Base excision repair (BER), DNA glycosylases 7 24 0 0 1 0 0 RP11-783K16.10 0 broad.mit.edu 37 11 64067776 64067776 + RNA SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:64067776C>G ENST00000539086.1 + 0 1901 GGAGGGCTGTCGTTTGAACTC 0.667000 3 7 0 0 1 0 0 RASSF8 11228 broad.mit.edu 37 12 26217839 26217839 + Missense_Mutation SNP G G A rs78627144 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:26217839G>A ENST00000405154.2 + 3 711 c.512G>A c.(511-513)cGt>cAt p.R171H RASSF8_ENST00000282884.9_Missense_Mutation_p.R171H|RASSF8_ENST00000542865.1_Missense_Mutation_p.R171H|RASSF8_ENST00000381352.3_Missense_Mutation_p.R171H|RASSF8_ENST00000541490.1_Missense_Mutation_p.R171H NM_001164748.1 NP_001158220.1 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 171 signal transduction cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) AAGCTAATCCGTCTGCAGACA 0.363000 10 30 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7096379 7096379 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:7096379G>A ENST00000399510.2 - 19 2732 c.1880C>T c.(1879-1881)tCg>tTg p.S627L DLG4_ENST00000302955.6_Missense_Mutation_p.S581L|DLG4_ENST00000399506.2_Missense_Mutation_p.S584L NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 584 Guanylate kinase-like. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 CTCCCGGGACGACACAAAGTG 0.567000 11 60 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413735 178413735 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:178413735G>C ENST00000231188.5 - 8 1698 c.1520C>G c.(1519-1521)tCt>tGt p.S507C GRM6_ENST00000517717.1_Missense_Mutation_p.S507C|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 507 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GGGGTCGCCAGACCACTGCAG 0.692000 3 20 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58289433 58289433 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:58289433C>A ENST00000300896.4 - 19 2325 c.2131G>T c.(2131-2133)Gag>Tag p.E711* USP32_ENST00000592339.1_Nonsense_Mutation_p.E381* NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 711 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) GACATCTCCTCAGGCCAACTC 0.289000 8 55 1.12685e-05 1.16044e-05 1 1 0 ERCC6 2074 broad.mit.edu 37 10 50666943 50666943 + Missense_Mutation SNP C C T rs145554525 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:50666943C>T ENST00000355832.5 - 21 4478 c.4400G>A c.(4399-4401)cGa>cAa p.R1467Q RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.R837Q NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1467 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CAATAGTTCTCGGAAGACACA 0.453000 Direct reversal of damage;Nucleotide excision repair (NER) 18 66 0 0 1 0 0 ACSL6 23305 broad.mit.edu 37 5 131323819 131323819 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:131323819G>A ENST00000379264.2 - 7 861 c.753C>T c.(751-753)ctC>ctT p.L251L ACSL6_ENST00000379246.1_Silent_p.L237L|ACSL6_ENST00000431707.1_Silent_p.L206L|ACSL6_ENST00000543479.1_Silent_p.L226L|ACSL6_ENST00000379244.1_Silent_p.L226L|ACSL6_ENST00000357096.1_Silent_p.L191L|ACSL6_ENST00000379240.1_Silent_p.L226L|ACSL6_ENST00000379255.1_Silent_p.L191L|ACSL6_ENST00000296869.4_Silent_p.L251L|ACSL6_ENST00000379249.3_Silent_p.L226L|ACSL6_ENST00000544770.1_Silent_p.L135L|ACSL6_ENST00000379272.2_Silent_p.L241L NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 226 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGGGTCCATGAGGATGATCA 0.567000 33 127 0 0 1 0 0 CEP63 80254 broad.mit.edu 37 3 134278167 134278167 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:134278167C>G ENST00000337090.3 + 14 2022 c.1849C>G c.(1849-1851)Cta>Gta p.L617V CEP63_ENST00000354446.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.L617V|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.L617V Q96MT8 CEP63_HUMAN centrosomal protein 63kDa 617 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TTCCTACTCTCTATGTAAAAC 0.438000 6 106 0 0 1 0 0 TSPAN15 23555 broad.mit.edu 37 10 71243521 71243521 + Silent SNP T T C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:71243521T>C ENST00000373290.2 + 2 293 c.171T>C c.(169-171)agT>agC p.S57S NM_012339.3 NP_036471.1 O95858 TSN15_HUMAN tetraspanin 15 57 integral to plasma membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 9 CCCTTGAAAGTGCCTTCCTGG 0.547000 7 16 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169819676 169819676 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:169819676C>G ENST00000335742.7 + 14 3115 c.1758C>G c.(1756-1758)ctC>ctG p.L586L PALLD_ENST00000261509.6_Silent_p.L744L|PALLD_ENST00000507735.1_Silent_p.L257L|PALLD_ENST00000512127.1_Silent_p.L362L|PALLD_ENST00000505667.1_Silent_p.L761L|CBR4_ENST00000509108.1_Intron Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 968 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) AACAGAGACTCATCAGTGAAA 0.448000 Pancreatic Cancer, Familial Clustering of 6 25 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113657430 113657430 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:113657430C>G ENST00000361127.5 + 15 2660 c.2462C>G c.(2461-2463)tCt>tGt p.S821C LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) GTTGGCACTTCTTTGATCTGG 0.428000 12 79 0 0 1 0 0 POLR2L 5441 broad.mit.edu 37 11 840378 840378 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:840378C>T ENST00000322028.4 - 2 234 c.198G>A c.(196-198)gaG>gaA p.E66E NM_021128.4 NP_066951.1 P62875 RPAB5_HUMAN polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa 66 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding lung(1) 1 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTGGTCACTTCTCCAGGGGTG 0.642000 24 68 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4834503 4834503 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:4834503C>T ENST00000378191.4 + 5 1561 c.1180C>T c.(1180-1182)Cgg>Tgg p.R394W AJAP1_ENST00000378190.3_Missense_Mutation_p.R394W NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 394 Targeting signals. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CTCTTCTGATCGGCATCTTAT 0.552000 10 42 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136596746 136596746 + Silent SNP A A T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:136596746A>T ENST00000531224.1 - 6 2028 c.1776T>A c.(1774-1776)atT>atA p.I592I BCLAF1_ENST00000392348.2_Silent_p.I590I|BCLAF1_ENST00000527759.1_Silent_p.I590I|BCLAF1_ENST00000353331.4_Silent_p.I590I|BCLAF1_ENST00000530767.1_Silent_p.I419I|BCLAF1_ENST00000527536.1_Silent_p.I592I NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 592 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GTGGCAACTTAATGTGGTCAA 0.423000 11 109 0 0 1 0 0 LONP1 9361 broad.mit.edu 37 19 5696173 5696173 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:5696173G>C ENST00000360614.3 - 13 2062 c.1905C>G c.(1903-1905)ttC>ttG p.F635L LONP1_ENST00000593119.1_Missense_Mutation_p.F571L|LONP1_ENST00000585374.1_Missense_Mutation_p.F521L|LONP1_ENST00000540670.2_Missense_Mutation_p.F439L|LONP1_ENST00000590729.1_Missense_Mutation_p.F505L NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 635 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCGTGCAGATGAACAGCACCT 0.667000 9 24 0 0 1 0 0 SSX5 6758 broad.mit.edu 37 X 48054495 48054495 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:48054495C>G ENST00000311798.1 - 3 192 c.140G>C c.(139-141)aGa>aCa p.R47T SSX5_ENST00000376923.1_Intron|SSX5_ENST00000347757.1_Intron NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 23 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 GGCTGGCTCTCTTCCCACCTT 0.542000 7 11 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186793465 186793465 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:186793465G>A ENST00000169298.3 + 8 1769 c.1095G>A c.(1093-1095)acG>acA p.T365T ST6GAL1_ENST00000457772.2_Silent_p.T134T|ST6GAL1_ENST00000448044.1_Silent_p.T365T NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 365 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GTGCCTGCACGATGGGTGCCT 0.512000 11 51 0 0 1 0 0 OIT3 170392 broad.mit.edu 37 10 74658496 74658496 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:74658496C>G ENST00000334011.5 + 2 354 c.136C>G c.(136-138)Caa>Gaa p.Q46E NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 46 nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) GGATGAGTCTCAAGGTCCTCC 0.507000 12 38 0 0 1 0 0 IGLV5-45 28781 broad.mit.edu 37 22 22730594 22730594 + RNA SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr22:22730594C>G ENST00000390296.2 + 0 117 TCTTCCCTCTCTGCATCTCCT 0.532000 7 34 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16306794 16306794 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:16306794G>C ENST00000244769.4 - 9 3150 c.2214C>G c.(2212-2214)ctC>ctG p.L738L ATXN1_ENST00000436367.1_Silent_p.L738L NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 738 Interaction with USP7.|RNA-binding. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CATTCTCAGAGAGCATCTGGG 0.577000 7 36 0 0 1 0 0 ZC3H14 79882 broad.mit.edu 37 14 89041178 89041178 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:89041178C>T ENST00000251038.5 + 7 1228 c.1003C>T c.(1003-1005)Cct>Tct p.P335S ZC3H14_ENST00000359301.3_Missense_Mutation_p.P301S|ZC3H14_ENST00000555755.1_Missense_Mutation_p.P335S|ZC3H14_ENST00000393514.5_Missense_Mutation_p.P335S|ZC3H14_ENST00000556945.1_Missense_Mutation_p.P335S|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000302216.8_Missense_Mutation_p.P335S|ZC3H14_ENST00000336693.4_Missense_Mutation_p.P301S|ZC3H14_ENST00000557607.1_Missense_Mutation_p.P180S NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 335 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 TGTGTCTGTGCCTGCAAAGCC 0.403000 7 10 0 0 1 0 0 SERINC3 10955 broad.mit.edu 37 20 43135594 43135594 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr20:43135594G>A ENST00000342374.4 - 6 814 c.657C>T c.(655-657)atC>atT p.I219I SERINC3_ENST00000541235.1_Silent_p.I164I|SERINC3_ENST00000255175.1_Silent_p.I219I NM_006811.2 NP_006802.1 Q13530 SERC3_HUMAN serine incorporator 3 219 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) GCCCGACACAGATGATTGACA 0.393000 7 28 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152552568 152552568 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:152552568C>G ENST00000367255.5 - 114 21598 c.20997G>C c.(20995-20997)atG>atC p.M6999I SYNE1_ENST00000448038.1_Missense_Mutation_p.M6928I|SYNE1_ENST00000341594.5_Missense_Mutation_p.M6611I|SYNE1_ENST00000265368.4_Missense_Mutation_p.M6999I|SYNE1_ENST00000356820.4_Missense_Mutation_p.M1523I|SYNE1_ENST00000423061.1_Missense_Mutation_p.M6928I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6999 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AACTTTTATTCATTGCTCCAA 0.443000 HNSCC(10;0.0054) 15 45 0 0 1 0 0 GDPD5 81544 broad.mit.edu 37 11 75160959 75160959 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:75160959C>T ENST00000526177.1 - 3 1909 c.31G>A c.(31-33)Gag>Aag p.E11K GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000529721.1_Missense_Mutation_p.E149K|GDPD5_ENST00000533784.1_Intron|GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000336898.3_Missense_Mutation_p.E149K|GDPD5_ENST00000443276.2_3'UTR Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 149 glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 ACCTCCCACTCGTCCTCCCAC 0.627000 5 22 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68112622 68112622 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:68112622C>T ENST00000518230.1 - 17 2259 c.1908G>A c.(1906-1908)atG>atA p.M636I ARFGEF1_ENST00000517955.1_Intron|ARFGEF1_ENST00000262215.3_Intron|ARFGEF1_ENST00000520381.1_Intron Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 0 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TTCGAAGCCTCATACTTACCC 0.463000 7 27 0 0 1 0 0 ZNF224 7767 broad.mit.edu 37 19 44610825 44610825 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:44610825C>T ENST00000336976.6 + 6 766 c.512C>T c.(511-513)tCa>tTa p.S171L AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 171 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) CAATTACACTCAGGAGAGAAA 0.403000 19 78 0 0 1 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55046962 55046962 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:55046962G>A ENST00000335056.3 + 4 545 c.507G>A c.(505-507)atG>atA p.M169I KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) ACCAGGGGATGGAGGCTGGGA 0.537000 7 29 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1650862 1650862 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:1650862G>A ENST00000356200.3 - 3 392 c.158C>T c.(157-159)cCa>cTa p.P53L CDK11A_ENST00000378638.2_Missense_Mutation_p.P53L|CDK11A_ENST00000358779.5_Missense_Mutation_p.P87L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378635.3_Missense_Mutation_p.P87L|CDK11A_ENST00000378633.1_Missense_Mutation_p.P87L|CDK11A_ENST00000404249.3_Missense_Mutation_p.P87L|CDK11A_ENST00000357760.2_Missense_Mutation_p.P87L cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 TTGCTGGGGTGGTTTGATGGC 0.413000 17 79 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55543135 55543135 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:55543135C>G ENST00000436346.1 - 22 4703 c.3862G>C c.(3862-3864)Gaa>Caa p.E1288Q AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1288Q|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1287Q|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1287Q|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1288 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TTTGAAAATTCAGCTTCTAAT 0.313000 14 66 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169494094 169494094 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:169494094G>A ENST00000367796.3 - 19 5985 c.5784C>T c.(5782-5784)atC>atT p.I1928I F5_ENST00000367797.3_Silent_p.I1923I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1923 F5/8 type C 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CTGAAGCCTTGATCTGTGAAT 0.388000 12 51 0 0 1 0 0 RALGPS1 9649 broad.mit.edu 37 9 129815197 129815197 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:129815197C>T ENST00000259351.5 + 7 729 c.462C>T c.(460-462)ttC>ttT p.F154F RALGPS1_ENST00000394022.3_Silent_p.F154F|RALGPS1_ENST00000373436.1_Silent_p.F154F|RALGPS1_ENST00000424082.2_Silent_p.F154F|RALGPS1_ENST00000373434.1_Silent_p.F154F NM_014636.2 NP_055451.1 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 154 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 CTCCCATCTTCAGGCTGACAA 0.383000 20 69 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64949089 64949089 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:64949089C>G ENST00000399262.2 - 18 6627 c.6409G>C c.(6409-6411)Gaa>Caa p.E2137Q JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1900Q|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1955Q|JMJD1C_ENST00000399251.1_3'UTR NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2137 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TCAGGCTCTTCTTTAAGCTCT 0.333000 14 45 0 0 1 0 0 IQCB1 9657 broad.mit.edu 37 3 121489208 121489208 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:121489208C>T ENST00000310864.6 - 15 1995 c.1781G>A c.(1780-1782)gGa>gAa p.G594E IQCB1_ENST00000349820.6_Missense_Mutation_p.G461E NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 594 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) TGGTTTGGTTCCACCAATGAA 0.408000 5 57 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42166504 42166504 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:42166504G>A ENST00000520810.1 + 8 839 c.653G>A c.(652-654)gGc>gAc p.G218D IKBKB_ENST00000519735.1_Missense_Mutation_p.G218D|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.G216D|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.G159D NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 218 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TGCATCACGGGCTTCCGGCCC 0.627000 4 87 0 0 1 0 0 TSPAN9 10867 broad.mit.edu 37 12 3389631 3389631 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:3389631G>C ENST00000011898.5 + 6 575 c.414G>C c.(412-414)tgG>tgC p.W138C TSPAN9_ENST00000407263.1_Missense_Mutation_p.W138C|TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Missense_Mutation_p.W138C NM_006675.4 NP_006666.1 O75954 TSN9_HUMAN tetraspanin 9 138 integral to plasma membrane|membrane fraction endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831) AGAACGCCTGGAACATCATCC 0.657000 3 13 0 0 1 0 0 SNRK 54861 broad.mit.edu 37 3 43381990 43381990 + Splice_Site SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:43381990G>C ENST00000296088.7 + 5 1247 c.943G>C c.(943-945)Gaa>Caa p.E315Q SNRK_ENST00000454177.1_Splice_Site_p.E315Q|SNRK_ENST00000429705.2_Splice_Site_p.E315Q|SNRK_ENST00000437827.1_Splice_Site_p.E109Q NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 315 UBA. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) CGCCATTGTAGAGTACGTCAA 0.488000 6 26 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55587175 55587175 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:55587175C>T ENST00000373965.2 - 33 4760 c.4366G>A c.(4366-4368)Gaa>Aaa p.E1456K PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1409K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1449K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1451K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1446K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1449K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1424K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1378K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1449K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1456K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E1060K NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1449 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CCAAGTTCTTCATAGAGATGC 0.552000 HNSCC(58;0.16) 13 36 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73748616 73748616 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:73748616G>A ENST00000334126.7 - 30 6014 c.5788C>T c.(5788-5790)Ctt>Ttt p.L1930F C2CD3_ENST00000313663.7_Missense_Mutation_p.L1930F Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1930 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) CCTGGCCCAAGATGGTCCCTA 0.557000 15 81 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175049448 175049448 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:175049448G>T ENST00000239462.4 + 4 1047 c.934G>T c.(934-936)Gag>Tag p.E312* NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 312 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix 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) AGTGCCCAAGGAGCAGCACAG 0.552000 18 40 3.41278e-10 3.5958e-10 1 1 0 KIDINS220 57498 broad.mit.edu 37 2 8926117 8926117 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:8926117G>A ENST00000256707.3 - 17 2164 c.1983C>T c.(1981-1983)gtC>gtT p.V661V KIDINS220_ENST00000473731.1_Silent_p.V661V|KIDINS220_ENST00000427284.1_Silent_p.V661V|KIDINS220_ENST00000319688.5_Silent_p.V662V|KIDINS220_ENST00000418530.1_Silent_p.V619V NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 661 KAP NTPase. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane p.V661V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AAAGGAAGATGACAAAAGATG 0.323000 6 18 0 0 1 0 0 REST 5978 broad.mit.edu 37 4 57797247 57797247 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:57797247G>A ENST00000309042.7 + 4 2537 c.2223G>A c.(2221-2223)caG>caA p.Q741Q NM_001193508.1|NM_005612.4 NP_001180437.1|NP_005603.3 Q13127 REST_HUMAN RE1-silencing transcription factor 741 Pro-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) AGGTGGTCCAGAAGGAGCCTG 0.557000 56 198 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 47 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17837139 17837139 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:17837139C>T ENST00000378814.5 - 11 1124 c.1125G>A c.(1123-1125)gaG>gaA p.E375E KIF13A_ENST00000259711.6_Silent_p.E375E|KIF13A_ENST00000378843.2_Silent_p.E375E|KIF13A_ENST00000378826.2_Silent_p.E375E|KIF13A_ENST00000378816.5_Silent_p.E375E NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 375 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CTCTCAGTTTCTCGACTTCCT 0.522000 34 152 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141215068 141215068 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:141215068C>G ENST00000389484.3 - 61 10749 c.9778G>C c.(9778-9780)Gat>Cat p.D3260H NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3260 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCTGGATATCTGTGATGGCA 0.393000 TSP Lung(27;0.18) 16 64 0 0 1 0 0 ALPI 248 broad.mit.edu 37 2 233321360 233321360 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:233321360G>A ENST00000295463.3 + 3 332 c.255G>A c.(253-255)gaG>gaA p.E85E NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 85 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGGGGCCTGAGACGCCCCTGG 0.597000 4 11 0 0 1 0 0 DHRS11 79154 broad.mit.edu 37 17 34956605 34956605 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:34956605G>C ENST00000251312.5 + 7 968 c.756G>C c.(754-756)caG>caC p.Q252H DHRS11_ENST00000590554.1_Missense_Mutation_p.Q173H NM_024308.3 NP_077284.2 Q6UWP2 DHR11_HUMAN dehydrogenase/reductase (SDR family) member 11 252 extracellular region binding|oxidoreductase activity endometrium(1)|lung(4) 5 GAGACATCCAGATGAGGCCCA 0.602000 5 15 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108170548 108170548 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:108170548G>A ENST00000278616.4 + 34 5498 c.5113G>A c.(5113-5115)Gat>Aat p.D1705N ATM_ENST00000452508.2_Missense_Mutation_p.D1705N NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1705 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTTATTTGAAGATAAAGAACT 0.368000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 27 109 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135739074 135739074 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:135739074G>A ENST00000392915.1 - 10 3559 c.3440C>T c.(3439-3441)tCa>tTa p.S1147L MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Silent_p.L211L|MAP3K19_ENST00000375844.3_Silent_p.L261L|MAP3K19_ENST00000358371.4_Silent_p.L966L|MAP3K19_ENST00000375845.3_Silent_p.L1079L|MAP3K19_ENST00000392918.3_Intron mitogen-activated protein kinase kinase kinase 19 CTTGACTAGTGAGACCACAGT 0.368000 12 62 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73739797 73739797 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:73739797G>C ENST00000200181.3 + 26 3153 c.2966G>C c.(2965-2967)aGa>aCa p.R989T ITGB4_ENST00000449880.2_Missense_Mutation_p.R989T|ITGB4_ENST00000339591.3_Missense_Mutation_p.R989T|ITGB4_ENST00000579662.1_Missense_Mutation_p.R989T|ITGB4_ENST00000450894.3_Missense_Mutation_p.R989T NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 989 Calx-beta. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CTTGCAGCCAGAGACGTGGTG 0.662000 5 38 0 0 1 0 0 H3F3B 3021 broad.mit.edu 37 17 73774795 73774795 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:73774795C>A ENST00000254810.4 - 4 424 c.292G>T c.(292-294)Gaa>Taa p.E98* H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000592643.1_Silent_p.A73A|H3F3B_ENST00000587560.1_Nonsense_Mutation_p.E98*|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000589599.1_Nonsense_Mutation_p.E98*|H3F3B_ENST00000586607.1_Nonsense_Mutation_p.E98* NM_005324.3 NP_005315.1 P84243 H33_HUMAN H3 histone, family 3B (H3.3B) 98 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding large_intestine(1)|lung(4)|ovary(2)|skin(1) 8 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGTACGCTTCGCTAGCCTCC 0.587000 27 39 1.17739e-12 1.25639e-12 1 1 0 IMPG2 50939 broad.mit.edu 37 3 100949913 100949913 + Missense_Mutation SNP T T C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:100949913T>C ENST00000193391.7 - 16 3497 c.3310A>G c.(3310-3312)Atc>Gtc p.I1104V NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1104 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GCAATAGTGATGCCTATGATC 0.507000 20 121 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31038933 31038933 + Missense_Mutation SNP C C T rs140147461 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:31038933C>T ENST00000355537.3 + 4 2554 c.2407C>T c.(2407-2409)Cgg>Tgg p.R803W NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 803 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCGACACCATCGGGAGCGGCA 0.527000 9 47 0 0 1 0 0 PUS7L 83448 broad.mit.edu 37 12 44148499 44148499 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:44148499G>A ENST00000416848.2 - 2 1038 c.550C>T c.(550-552)Cca>Tca p.P184S PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Missense_Mutation_p.P184S|PUS7L_ENST00000553166.1_Missense_Mutation_p.P184S|PUS7L_ENST00000344862.5_Missense_Mutation_p.P184S NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 184 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) ACTAAAAATGGAAATTTCTGC 0.348000 14 51 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10379904 10379904 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:10379904C>T ENST00000397077.1 - 21 3816 c.3241G>A c.(3241-3243)Ggc>Agc p.G1081S ATP2B2_ENST00000360273.2_Missense_Mutation_p.G1126S|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G1112S|ATP2B2_ENST00000352432.4_Missense_Mutation_p.G1126S|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G1081S Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1126 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 AGGATCTGGCCCCGCCGCAGC 0.682000 4 26 0 0 1 0 0 LLPH 84298 broad.mit.edu 37 12 66517632 66517632 + Silent SNP A A C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:66517632A>C ENST00000266604.2 - 3 448 c.378T>G c.(376-378)ggT>ggG p.G126G LLPH_ENST00000446587.2_Silent_p.G126G NM_032338.3 NP_115714.1 Q9BRT6 LLPH_HUMAN LLP homolog, long-term synaptic facilitation (Aplysia) 126 central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1) 5 ACCAGGCCAAACCCTTTGCCA 0.413000 25 87 0 0 1 0 0 SNRK 54861 broad.mit.edu 37 3 43381800 43381800 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:43381800G>A ENST00000296088.7 + 5 1057 c.753G>A c.(751-753)caG>caA p.Q251Q SNRK_ENST00000454177.1_Silent_p.Q251Q|SNRK_ENST00000429705.2_Silent_p.Q251Q|SNRK_ENST00000437827.1_Silent_p.Q45Q NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 251 Protein kinase. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) GGATGCTACAGAGAGATCCCA 0.413000 25 114 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23233234 23233234 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:23233234G>C ENST00000400191.3 + 11 1938 c.1920G>C c.(1918-1920)ctG>ctC p.L640L EPHB2_ENST00000374630.3_Silent_p.L640L|EPHB2_ENST00000374627.1_Silent_p.L635L|EPHB2_ENST00000374632.3_Silent_p.L641L NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 640 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GTGGCCACCTGAAGCTGCCAG 0.582000 4 17 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55087518 55087518 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:55087518C>G ENST00000251377.3 + 7 1330 c.1197C>G c.(1195-1197)ctC>ctG p.L399L LILRA2_ENST00000391738.3_Silent_p.L399L|LILRA2_ENST00000251376.3_Silent_p.L399L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.L387L|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) ACAGCTCACTCAGCTCCAACC 0.592000 18 69 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155157229 155157229 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:155157229C>T ENST00000357232.4 - 25 7209 c.7210G>A c.(7210-7212)Gat>Aat p.D2404N NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GCAGTTGCATCACCTTTGTCT 0.423000 7 91 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8201331 8201331 + Missense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:8201331G>T ENST00000600128.1 - 11 1700 c.1286C>A c.(1285-1287)tCc>tAc p.S429Y FBN3_ENST00000601739.1_Missense_Mutation_p.S429Y|FBN3_ENST00000270509.2_Missense_Mutation_p.S429Y Q75N90 FBN3_HUMAN fibrillin 3 429 EGF-like 3. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCGGTAGCTGGAAGGCGTGGG 0.652000 27 49 4.22769e-11 4.4827e-11 1 1 0 TUBG2 27175 broad.mit.edu 37 17 40818404 40818404 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:40818404G>A ENST00000251412.7 + 10 1259 c.1060G>A c.(1060-1062)Gcc>Acc p.A354T NM_016437.2 NP_057521.1 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 354 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity p.A354T(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) GTGGGGCCCCGCCAGCATCCA 0.657000 3 35 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161163802 161163802 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:161163802C>G ENST00000367996.5 - 5 1899 c.1471G>C c.(1471-1473)Gat>Cat p.D491H NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 Disintegrin. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGTGTGCCATCGGCCCAGGGC 0.657000 3 45 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56493443 56493443 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:56493443G>A ENST00000267101.3 + 24 3291 c.2851G>A c.(2851-2853)Gat>Aat p.D951N ERBB3_ENST00000450146.2_Missense_Mutation_p.D308N|ERBB3_ENST00000549832.1_Missense_Mutation_p.D71N|ERBB3_ENST00000553131.1_Missense_Mutation_p.D192N|ERBB3_ENST00000415288.2_Missense_Mutation_p.D892N NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 951 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TTGGATGATTGATGAGAACAT 0.483000 12 53 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107497231 107497231 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:107497231G>C ENST00000415149.2 + 13 2395 c.2068G>C c.(2068-2070)Gat>Cat p.D690H BBX_ENST00000406780.1_Missense_Mutation_p.D690H|BBX_ENST00000416476.2_Missense_Mutation_p.W353C|BBX_ENST00000402543.1_Missense_Mutation_p.D690H|BBX_ENST00000325805.8_Missense_Mutation_p.D690H|BBX_ENST00000473542.1_3'UTR NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 690 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) CGCAAAGCTGGATGAAGAATT 0.373000 25 49 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12458312 12458312 + Missense_Mutation SNP T T C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:12458312T>C ENST00000397026.2 + 8 1246 c.863T>C c.(862-864)tTt>tCt p.F288S PPARG_ENST00000309576.6_Missense_Mutation_p.F282S|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397015.2_Missense_Mutation_p.F282S|PPARG_ENST00000397010.2_Missense_Mutation_p.F282S|PPARG_ENST00000287820.6_Missense_Mutation_p.F310S|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397012.2_Missense_Mutation_p.F282S P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 310 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) ATCCGCATCTTTCAGGGCTGC 0.468000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 12 28 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20178502 20178502 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:20178502C>T ENST00000263754.4 + 12 2273 c.1818C>T c.(1816-1818)ctC>ctT p.L606L NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 606 N-acetyltransferase. cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 TGAACTTCCTCACATATGCAG 0.368000 7 29 0 0 1 0 0 DUXA 503835 broad.mit.edu 37 19 57669783 57669783 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:57669783G>A ENST00000554048.2 - 4 350 c.351C>T c.(349-351)atC>atT p.I117I NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 117 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TAAATGCCTTGATGAGAGTGT 0.478000 11 51 0 0 1 0 0 SMCO3 440087 broad.mit.edu 37 12 14959539 14959539 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:14959539G>A ENST00000316048.2 - 2 148 c.76C>T c.(76-78)Ctt>Ttt p.L26F C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron NM_001013698.2 NP_001013720.2 single-pass membrane protein with coiled-coil domains 3 AAGCAATCAAGAAGCTGCTGG 0.443000 23 57 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122825761 122825761 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:122825761C>G ENST00000358808.2 - 10 2111 c.1957G>C c.(1957-1959)Gag>Cag p.E653Q CLIP1_ENST00000361654.4_Missense_Mutation_p.E618Q|CLIP1_ENST00000545889.1_Missense_Mutation_p.E354Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.E618Q|CLIP1_ENST00000540338.1_Missense_Mutation_p.E664Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.E653Q NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 664 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) CTCATTTTCTCTATTTGTGTT 0.448000 18 85 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37732058 37732058 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:37732058G>A ENST00000330843.4 - 3 1609 c.1597C>T c.(1597-1599)Ccc>Tcc p.P533S RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.P385S|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P385S|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P533S NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 533 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGGTCTGGGGAGCCCTCGGA 0.542000 3 50 0 0 1 0 0 ZNF132 7691 broad.mit.edu 37 19 58944738 58944738 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:58944738G>C ENST00000254166.3 - 3 2473 c.2073C>G c.(2071-2073)ctC>ctG p.L691L NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 691 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GATGGCTGAAGAGTTTCCCAC 0.433000 12 61 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11787059 11787059 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:11787059G>C ENST00000262442.4 + 56 11031 c.10963G>C c.(10963-10965)Gag>Cag p.E3655Q DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_5'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3655Q NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGCCGAAGTTGAGAAAAAGGT 0.507000 5 33 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183938560 183938560 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:183938560C>G ENST00000361927.4 - 5 1046 c.675G>C c.(673-675)aaG>aaC p.K225N COLGALT2_ENST00000546159.1_Missense_Mutation_p.K225N NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 AGCCTGTCCTCTTCCATTCTC 0.512000 20 31 0 0 1 0 0 FAM53B 9679 broad.mit.edu 37 10 126370735 126370735 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:126370735G>T ENST00000337318.3 - 4 558 c.347C>A c.(346-348)tCa>tAa p.S116* RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Nonsense_Mutation_p.S116*|FAM53B_ENST00000280780.6_Nonsense_Mutation_p.S116* NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 116 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) GAAGGACAGTGAGCGGCACTG 0.607000 4 5 0.00909568 0.00917812 1 1 0 C19orf45 374877 broad.mit.edu 37 19 7566164 7566164 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:7566164C>T ENST00000361664.2 + 2 597 c.456C>T c.(454-456)ttC>ttT p.F152F NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 152 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 GCCTCATCTTCGACCGCGACT 0.751000 6 17 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643204 37643204 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:37643204G>A ENST00000356958.4 - 5 1855 c.1597C>T c.(1597-1599)Cag>Tag p.Q533* ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Nonsense_Mutation_p.Q478*|ZNF585A_ENST00000292841.5_Nonsense_Mutation_p.Q478*|ZNF585A_ENST00000355533.2_Intron Q6P3V2 Z585A_HUMAN zinc finger protein 585A 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGTGACTTCTGAGTGAAGGCT 0.428000 23 86 0 0 1 0 0 KRT23 25984 broad.mit.edu 37 17 39092489 39092489 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:39092489C>A ENST00000209718.3 - 2 791 c.367G>T c.(367-369)Gag>Tag p.E123* KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 123 Linker 1.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) ATGTTTTCCTCATACTGGGAA 0.547000 12 47 3.07112e-06 3.17243e-06 1 1 0 C14orf39 317761 broad.mit.edu 37 14 60923759 60923759 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:60923759C>G ENST00000321731.3 - 15 1393 c.1234G>C c.(1234-1236)Gaa>Caa p.E412Q NM_174978.2 NP_777638 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 412 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) GCTCTCTCTTCTACTTCATCA 0.348000 5 76 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13234282 13234282 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:13234282C>G ENST00000378694.1 + 11 1619 c.1544C>G c.(1543-1545)tCt>tGt p.S515C MCM10_ENST00000378714.3_Missense_Mutation_p.S515C|MCM10_ENST00000484800.2_Missense_Mutation_p.S516C Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 516 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 CTGTCTTGCTCTGAGGAGTTC 0.483000 4 18 0 0 1 0 0 SRSF11 9295 broad.mit.edu 37 1 70715728 70715728 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:70715728G>C ENST00000370950.3 + 11 1198 c.1116G>C c.(1114-1116)agG>agC p.R372S SRSF11_ENST00000405432.1_Missense_Mutation_p.R372S|SRSF11_ENST00000370949.1_Missense_Mutation_p.R312S|SRSF11_ENST00000370951.1_Missense_Mutation_p.R372S|SRSF11_ENST00000484162.1_3'UTR Q05519 SRS11_HUMAN serine/arginine-rich splicing factor 11 372 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding large_intestine(3)|ovary(2)|skin(1) 6 CATCCCCTAGGAGGTAAGAAT 0.373000 4 24 0 0 1 0 0 SNAI3 333929 broad.mit.edu 37 16 88747913 88747913 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:88747913G>C ENST00000332281.5 - 2 372 c.286C>G c.(286-288)Cgg>Ggg p.R96G SNAI3-AS1_ENST00000563261.1_RNA NM_178310.3 NP_840101.1 Q3KNW1 SNAI3_HUMAN snail family zinc finger 3 96 oxidation-reduction process copper ion binding|DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.048) CGGCTGGCCCGAGGGTCGACC 0.687000 10 48 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50073937 50073937 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:50073937C>T ENST00000281631.5 + 8 711 c.553C>T c.(553-555)Ctg>Ttg p.L185L PARP8_ENST00000505697.2_Silent_p.L185L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Silent_p.L185L|PARP8_ENST00000503750.2_Silent_p.L185L|PARP8_ENST00000505554.1_Silent_p.L164L|PARP8_ENST00000514342.2_5'UTR NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 185 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) AGATATTGATCTGCATATCGA 0.279000 7 19 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113508844 113508844 + Splice_Site SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:113508844G>A ENST00000487903.1 + 19 2331 c.2243G>A c.(2242-2244)gGa>gAa p.G748E ATP11A_ENST00000283558.8_Splice_Site_p.G748E|ATP11A_ENST00000375645.3_Splice_Site_p.G748E|ATP11A_ENST00000375630.2_Splice_Site_p.G748E P98196 AT11A_HUMAN ATPase, class VI, type 11A 748 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) AACCTGTCCGGGTAGGCAGCG 0.647000 3 18 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94747515 94747515 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:94747515G>A ENST00000399300.2 - 3 1337 c.1124C>T c.(1123-1125)tCa>tTa p.S375L RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.S375L NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 375 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TAGTGACCCTGATCTCTTCTT 0.363000 14 69 0 0 1 0 0 GNPAT 8443 broad.mit.edu 37 1 231402031 231402031 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:231402031G>A ENST00000366647.4 + 8 1102 c.933G>A c.(931-933)ctG>ctA p.L311L GNPAT_ENST00000366646.3_Silent_p.L250L NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 311 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) AGGGGTTGCTGAAAGCCAGAA 0.423000 9 41 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583532 7583532 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7583532C>T ENST00000379802.3 + 24 6378 c.6037C>T c.(6037-6039)Cgg>Tgg p.R2013W DSP_ENST00000418664.2_Missense_Mutation_p.R1414W NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2013 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GCCATTCCTTCGGGGTGCAGG 0.453000 6 27 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95477685 95477685 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:95477685G>A ENST00000356884.6 - 7 2386 c.2319C>T c.(2317-2319)gaC>gaT p.D773D BICD2_ENST00000375512.3_Silent_p.D773D NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 773 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 TCTTCTTCTCGTCCTCAGCAG 0.617000 6 29 0 0 1 0 0 SLC6A18 348932 broad.mit.edu 37 5 1239639 1239639 + Silent SNP C C T rs137936927 byFrequency TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:1239639C>T ENST00000324642.3 + 6 930 c.807C>T c.(805-807)ttC>ttT p.F269F SLC6A18_ENST00000296821.4_Silent_p.F264F NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 269 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCCTGGCCTTCGGAGGACACA 0.592000 11 43 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20410434 20410434 + Silent SNP G G A rs140659319 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:20410434G>A ENST00000302451.4 - 2 437 c.189C>T c.(187-189)ctC>ctT p.L63L NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 63 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 AAAGCACCATGAGGAAGCGGG 0.552000 4 31 0 0 1 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139304599 139304599 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:139304599G>A ENST00000298537.7 - 2 374 c.163C>T c.(163-165)Cgg>Tgg p.R55W SDCCAG3_ENST00000371725.3_Intron|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.R55W NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 55 cytoplasm NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) AAGGCCGGCCGAATGCcgaag 0.652000 3 6 0 0 1 0 0 MAP2K4 6416 broad.mit.edu 37 17 12032558 12032558 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:12032558G>A ENST00000415385.3 + 10 1080 c.1027G>A c.(1027-1029)Gag>Aag p.E343K MAP2K4_ENST00000353533.5_Missense_Mutation_p.E332K NM_001281435.1 NP_001268364.1 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 332 Protein kinase. cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.?(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) GAGTAATTCTGAGGAAAGGGA 0.438000 """D, Mis, N""" """pancreatic, breast, colorectal""" 7 38 0 0 1 0 0 ICMT 23463 broad.mit.edu 37 1 6285271 6285271 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:6285271G>A ENST00000343813.5 - 5 752 c.724C>T c.(724-726)Cga>Tga p.R242* NM_012405.3 NP_036537.1 O60725 ICMT_HUMAN isoprenylcysteine carboxyl methyltransferase 242 protein targeting to membrane endoplasmic reticulum membrane|integral to membrane|membrane fraction protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity NS(1)|endometrium(2) 3 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) CGGAAGAATCGCCACACTGTC 0.542000 17 52 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51679710 51679710 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:51679710G>A ENST00000409535.2 + 17 2885 c.2760G>A c.(2758-2760)ttG>ttA p.L920L RAD54L2_ENST00000296477.3_Silent_p.L614L NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) AAGTTTCCTTGAACGTAAAGG 0.493000 5 11 0 0 1 0 0 NOL7 51406 broad.mit.edu 37 6 13620485 13620485 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:13620485G>C ENST00000451315.2 + 6 578 c.546G>C c.(544-546)ctG>ctC p.L182L NOL7_ENST00000474485.1_3'UTR|AL441883.1_ENST00000600057.1_Silent_p.L97L NM_016167.3 NP_057251.2 Q9UMY1 NOL7_HUMAN nucleolar protein 7, 27kDa 182 mitochondrion|nucleolus breast(1)|large_intestine(3)|lung(1) 5 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.135) Epithelial(50;0.176) ACCAAGATCTGAGAGATTCAA 0.348000 5 76 0 0 1 0 0 GPD1L 23171 broad.mit.edu 37 3 32180162 32180162 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:32180162C>G ENST00000282541.5 + 3 510 c.309C>G c.(307-309)atC>atG p.I103M NM_015141.3 NP_055956.1 Q8N335 GPD1L_HUMAN glycerol-3-phosphate dehydrogenase 1-like 103 glycerol-3-phosphate catabolic process glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity large_intestine(4)|lung(7)|ovary(1) 12 TTCACAGAATCTGTGATGAGA 0.512000 13 46 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2593934 2593934 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:2593934G>A ENST00000570628.2 - 26 3989 c.3884C>T c.(3883-3885)tCc>tTc p.S1295F CLUH_ENST00000538975.1_Missense_Mutation_p.S1295F|CLUH_ENST00000435359.1_Missense_Mutation_p.S1295F clustered mitochondria (cluA/CLU1) homolog CGGGGGCTGGGAGCCCAGGTC 0.716000 4 14 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6924748 6924748 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:6924748C>G ENST00000312053.4 + 15 1888 c.1851C>G c.(1849-1851)ctC>ctG p.L617L EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Silent_p.L565L|EMR1_ENST00000381407.5_Silent_p.L476L|EMR1_ENST00000450315.3_Silent_p.L440L NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 617 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TGGTGTGCCTCGTCTTGGCCA 0.512000 5 29 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 179981401 179981401 + Silent SNP A A G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:179981401A>G ENST00000428443.3 - 15 1957 c.1641T>C c.(1639-1641)gtT>gtC p.V547V NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 547 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) GCACCTGTGCAACATCAACAA 0.388000 13 51 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56026147 56026147 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:56026147C>T ENST00000288221.6 - 11 2448 c.2193G>A c.(2191-2193)gaG>gaA p.E731E NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 731 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CCTTGAGGATCTCCAGCAACC 0.473000 22 91 0 0 1 0 0 ZNF232 7775 broad.mit.edu 37 17 5013128 5013128 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:5013128G>A ENST00000250076.3 - 3 713 c.59C>T c.(58-60)tCt>tTt p.S20F ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000416429.2_5'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.S20F NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 158 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 TAGCTCTGCAGAAGGCTCATA 0.453000 8 37 0 0 1 0 0 PANK1 53354 broad.mit.edu 37 10 91371744 91371744 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:91371744C>T ENST00000307534.4 - 2 920 c.765G>A c.(763-765)ccG>ccA p.P255P PANK1_ENST00000322191.6_Silent_p.P30P|PANK1_ENST00000371774.2_Silent_p.P57P|PANK1_ENST00000342512.3_Silent_p.P30P NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 255 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) TAATATCCTTCGGCTCGAAAT 0.463000 13 31 0 0 1 0 0 RP11-50E11.3 0 broad.mit.edu 37 10 52390415 52390415 + RNA SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:52390415G>C ENST00000443374.2 + 0 1604 AAGTCAGCTAGATAATGATCA 0.403000 8 38 0 0 1 0 0 LSG1 55341 broad.mit.edu 37 3 194371635 194371635 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:194371635C>G ENST00000265245.5 - 10 1708 c.1394G>C c.(1393-1395)aGa>aCa p.R465T NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 465 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) AACATGATCTCTCATCTGATC 0.448000 30 27 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118482547 118482547 + Missense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:118482547G>T ENST00000311085.8 + 16 2665 c.2585G>T c.(2584-2586)gGa>gTa p.G862V DMXL1_ENST00000539542.1_Missense_Mutation_p.G862V NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 862 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) TCACCTAATGGATTTTCTGAG 0.343000 10 31 1.08611e-07 1.13363e-07 1 1 0 WDR47 22911 broad.mit.edu 37 1 109553931 109553931 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:109553931G>A ENST00000357672.3 - 4 1028 c.653C>T c.(652-654)tCa>tTa p.S218L WDR47_ENST00000361054.3_Missense_Mutation_p.S218L|WDR47_ENST00000369965.4_Missense_Mutation_p.S246L|WDR47_ENST00000400794.3_Missense_Mutation_p.S253L|WDR47_ENST00000369962.3_Missense_Mutation_p.S246L O94967 WDR47_HUMAN WD repeat domain 47 246 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CTGAAGCCATGACAGTAAACT 0.383000 35 106 0 0 1 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756422 49756422 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:49756422G>C ENST00000535833.1 - 10 3927 c.477C>G c.(475-477)ctC>ctG p.L159L RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Silent_p.L159L|RNF123_ENST00000497099.1_Intron Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 159 heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGAGATGGCTGAGCGCGCGCA 0.632000 OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 58 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55525729 55525729 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:55525729C>G ENST00000219070.4 + 8 1706 c.1197C>G c.(1195-1197)ctC>ctG p.L399L MMP2_ENST00000543485.1_Silent_p.L323L|MMP2_ENST00000570308.1_Silent_p.L323L|MMP2_ENST00000437642.2_Silent_p.L349L NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 399 Collagenase-like 2. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GCCTGTTCCTCGTGGCAGCCC 0.577000 10 41 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7795489 7795489 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:7795489G>C ENST00000420658.1 - 11 1603 c.1331C>G c.(1330-1332)aCa>aGa p.T444R AFAP1_ENST00000360265.4_Missense_Mutation_p.T444R|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.T444R|AFAP1_ENST00000382543.3_Missense_Mutation_p.T444R NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 444 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 CTCCGGGTCTGTGGACGATCC 0.488000 14 71 0 0 1 0 0 WEE1 7465 broad.mit.edu 37 11 9597510 9597510 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:9597510G>A ENST00000299613.6 + 2 765 c.10G>A c.(10-12)Gaa>Aaa p.E4K WEE1_ENST00000450114.2_Missense_Mutation_p.E218K NM_001143976.1 NP_001137448.1 P30291 WEE1_HUMAN WEE1 G2 checkpoint kinase 218 blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 23 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) CATGGATACAGAAAAATCAGG 0.408000 12 65 0 0 1 0 0 PRR11 55771 broad.mit.edu 37 17 57272757 57272757 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:57272757G>A ENST00000262293.4 + 7 1122 c.810G>A c.(808-810)ctG>ctA p.L270L NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 270 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) ATGTTACCCTGAAACCTAACT 0.363000 11 56 0 0 1 0 0 TPP1 1200 broad.mit.edu 37 11 6636537 6636537 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:6636537C>G ENST00000533371.1 - 10 1359 c.561G>C c.(559-561)ctG>ctC p.L187L TPP1_ENST00000299427.6_Silent_p.L430L O14773 TPP1_HUMAN tripeptidyl peptidase I 430 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) GGCTAGAGCTCAGGAACTTCG 0.552000 6 23 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152584365 152584365 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:152584365G>T ENST00000397345.3 - 5 336 c.134C>A c.(133-135)tCa>tAa p.S45* NEB_ENST00000172853.10_Nonsense_Mutation_p.S45*|NEB_ENST00000409198.1_Nonsense_Mutation_p.S45*|NEB_ENST00000603639.1_Nonsense_Mutation_p.S45*|NEB_ENST00000427231.2_Nonsense_Mutation_p.S45*|NEB_ENST00000604864.1_Nonsense_Mutation_p.S45* NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 45 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GGAAGTTTCTGATTGCTCATA 0.438000 8 31 0.00307968 0.00312332 1 1 0 MALAT1 378938 broad.mit.edu 37 11 65271095 65271095 + RNA SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:65271095G>C ENST00000534336.1 + 0 5863 NR_002819.2 TTTTATTAGAGAATGTATACT 0.299000 9 26 0 0 1 0 0 OPRD1 4985 broad.mit.edu 37 1 29189401 29189401 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:29189401G>C ENST00000234961.2 + 3 967 c.725G>C c.(724-726)aGt>aCt p.S242T NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 242 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) CGCCTGCGCAGTGTGCGCCTG 0.642000 5 21 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149937765 149937765 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:149937765G>A ENST00000369135.4 - 5 835 c.541C>T c.(541-543)Cag>Tag p.Q181* OTUD7B_ENST00000479905.1_5'UTR NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B Catalytic.|TRAF-binding. negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) AGCAGCCTCTGAGAGGTGGGA 0.512000 5 23 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7584710 7584710 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7584710C>T ENST00000379802.3 + 24 7556 c.7215C>T c.(7213-7215)ctC>ctT p.L2405L DSP_ENST00000418664.2_Silent_p.L1806L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2405 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GTGAGATTCTCTCAGATCCAA 0.418000 14 40 0 0 1 0 0 ZNF395 55893 broad.mit.edu 37 8 28218496 28218496 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:28218496G>C ENST00000344423.5 - 2 277 c.146C>G c.(145-147)tCt>tGt p.S49C ZNF395_ENST00000523095.1_Missense_Mutation_p.S49C|ZNF395_ENST00000523202.1_Missense_Mutation_p.S49C NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 49 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGTGTCATCAGAGGTGGTGAA 0.672000 6 11 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25677780 25677780 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:25677780C>T ENST00000382051.3 + 13 1532 c.1482C>T c.(1480-1482)ttC>ttT p.F494F SLC34A2_ENST00000504570.1_Silent_p.F493F|SLC34A2_ENST00000503434.1_Silent_p.F493F NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 494 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) ACTTTTTCTTCAACATCTCCG 0.597000 T ROS1 NSCLC 6 23 0 0 1 0 0 AKT3 10000 broad.mit.edu 37 1 243716087 243716087 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:243716087G>A ENST00000366539.1 - 11 1307 c.1107C>T c.(1105-1107)ctC>ctT p.L369L AKT3_ENST00000336199.5_Silent_p.L369L|AKT3_ENST00000263826.5_Silent_p.L369L|AKT3_ENST00000366540.1_Silent_p.L369L Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 369 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) CATCTGAAGAGAGTGTTCGAG 0.358000 5 51 0 0 1 0 0 PLEKHB1 58473 broad.mit.edu 37 11 73361616 73361616 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:73361616G>A ENST00000354190.5 + 3 544 c.113G>A c.(112-114)tGg>tAg p.W38* PLEKHB1_ENST00000398492.4_Nonsense_Mutation_p.W38*|PLEKHB1_ENST00000227214.6_Nonsense_Mutation_p.W19*|PLEKHB1_ENST00000543085.1_Intron|PLEKHB1_ENST00000544532.1_3'UTR|PLEKHB1_ENST00000398494.4_Nonsense_Mutation_p.W19*|PLEKHB1_ENST00000535129.1_Nonsense_Mutation_p.W19* NM_021200.2 NP_067023.1 Q9UF11 PKHB1_HUMAN pleckstrin homology domain containing, family B (evectins) member 1 38 PH. multicellular organismal development|phototransduction cytoplasm|integral to membrane signal transducer activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 7 CTCCGCCGCTGGAAGCGGAAC 0.592000 4 11 0 0 1 0 0 SDE2 163859 broad.mit.edu 37 1 226180135 226180135 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:226180135C>A ENST00000272091.7 - 4 502 c.484G>T c.(484-486)Gag>Tag p.E162* NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) TCAGCCATCTCATGGCACTGC 0.567000 16 77 8.60227e-14 9.18921e-14 1 1 0 TTN 7273 broad.mit.edu 37 2 179658248 179658248 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:179658248C>G ENST00000589042.1 - 9 1643 c.1419G>C c.(1417-1419)aaG>aaC p.K473N TTN_ENST00000359218.5_Missense_Mutation_p.K473N|TTN_ENST00000460472.2_Missense_Mutation_p.K473N|TTN_ENST00000342175.6_Missense_Mutation_p.K473N|TTN_ENST00000591111.1_Missense_Mutation_p.K473N|TTN_ENST00000360870.5_Missense_Mutation_p.K473N|TTN_ENST00000342992.6_Missense_Mutation_p.K473N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 473 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTACAGCAGTCTTCTCCGCTT 0.403000 12 64 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18647716 18647716 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:18647716G>C ENST00000308799.4 + 1 378 c.159G>C c.(157-159)caG>caC p.Q53H FBXW10_ENST00000395665.4_Missense_Mutation_p.Q53H|FBXW10_ENST00000301938.4_Missense_Mutation_p.Q53H|FBXW10_ENST00000395667.1_Missense_Mutation_p.Q53H Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 53 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 ACATATCACAGAGGAGGTTTC 0.423000 22 80 0 0 1 0 0 PABPC1 26986 broad.mit.edu 37 8 101716565 101716565 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:101716565C>G ENST00000318607.5 - 14 3000 c.1872G>C c.(1870-1872)caG>caC p.Q624H PABPC1_ENST00000519004.1_Missense_Mutation_p.Q579H|PABPC1_ENST00000522387.1_Missense_Mutation_p.Q592H NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 624 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) TAACTGCTTTCTGGGCAGCCT 0.403000 41 117 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65147255 65147255 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:65147255G>C ENST00000358691.5 - 18 2429 c.2263C>G c.(2263-2265)Cag>Gag p.Q755E HELZ_ENST00000580168.1_Missense_Mutation_p.Q756E NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGGGGCATCTGAAAGGTGGAA 0.438000 15 74 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123472867 123472867 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:123472867C>A ENST00000280562.5 - 19 3098 c.2893G>T c.(2893-2895)Gag>Tag p.E965* PITPNM2_ENST00000542749.1_Nonsense_Mutation_p.E971*|PITPNM2_ENST00000392428.1_Nonsense_Mutation_p.E692*|PITPNM2_ENST00000320201.4_Nonsense_Mutation_p.E971* Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 0 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CCATCCAGCTCCAAGATGCTG 0.642000 29 126 1.39806e-14 1.49664e-14 1 1 0 ATMIN 23300 broad.mit.edu 37 16 81078222 81078222 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:81078222G>C ENST00000566488.1 + 3 2614 c.1651G>C c.(1651-1653)Gac>Cac p.D551H ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Missense_Mutation_p.D707H|ATMIN_ENST00000564241.1_Missense_Mutation_p.D551H O43313 ATMIN_HUMAN ATM interactor 707 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 GACACAGACAGACTTAAACTT 0.448000 23 94 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14825887 14825887 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:14825887C>T ENST00000261170.3 - 9 1226 c.1090G>A c.(1090-1092)Gac>Aac p.D364N RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 364 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 ACTGGACCGTCATACCCTAGG 0.448000 17 54 0 0 1 0 0 PRRX2 51450 broad.mit.edu 37 9 132484580 132484580 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:132484580C>G ENST00000372469.4 + 4 938 c.711C>G c.(709-711)ctC>ctG p.L237L NM_016307.3 NP_057391.1 Q99811 PRRX2_HUMAN paired related homeobox 2 237 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|pancreas(1) 3 Ovarian(14;0.00556) GCCTCCGTCTCAAGGCCAAGG 0.642000 9 22 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40668210 40668210 + Nonsense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:40668210C>G ENST00000372771.4 + 5 761 c.734C>G c.(733-735)tCa>tGa p.S245* NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 245 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AAAGAAATTTCAAATGTGTCA 0.353000 7 42 0 0 1 0 0 CIB3 117286 broad.mit.edu 37 19 16284256 16284256 + Missense_Mutation SNP C C G rs147137999 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:16284256C>G ENST00000269878.4 - 1 80 c.31G>C c.(31-33)Gag>Cag p.E11Q CIB3_ENST00000379859.3_Missense_Mutation_p.E11Q|CIB3_ENST00000541493.1_5'UTR NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 11 calcium ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 TCCAGCTGCTCGTGTGTGAAG 0.577000 24 50 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9018439 9018439 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:9018439G>C ENST00000397910.4 - 24 37938 c.37735C>G c.(37735-37737)Ctg>Gtg p.L12579V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12581 SEA 4. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCACTAACCAGAGTCTGCAGG 0.532000 32 79 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 9 48 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207669698 207669698 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:207669698C>T ENST00000367049.4 + 1 86 c.86C>T c.(85-87)gCg>gTg p.A29V CR1_ENST00000400960.2_Missense_Mutation_p.A29V|CR1_ENST00000367051.1_Missense_Mutation_p.A29V|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Missense_Mutation_p.A29V|CR1_ENST00000367053.1_Missense_Mutation_p.A29V NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 29 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TCCCTGCTGGCGGTTGTGGTG 0.731000 3 11 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711634 155711634 + Nonsense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:155711634C>T ENST00000295101.2 + 3 1792 c.1315C>T c.(1315-1317)Cga>Tga p.R439* NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 439 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) GAAACTTCAACGAATAAGTTC 0.428000 15 64 0 0 1 0 0 NXF1 10482 broad.mit.edu 37 11 62560121 62560121 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:62560121G>C ENST00000532297.1 - 21 2442 c.1813C>G c.(1813-1815)Cat>Gat p.H605D NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.H605D Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 605 TAP-C. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ACCTTGAGATGAGTGAAGGCC 0.527000 7 35 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87628830 87628830 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:87628830C>T ENST00000327946.7 - 6 973 c.888G>A c.(886-888)agG>agA p.R296R NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 296 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GGTGGTTGTTCCTCGTGCATT 0.582000 Multiple Myeloma(13;0.14) 16 50 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20113763 20113763 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:20113763G>C ENST00000396085.1 + 29 6034 c.5673G>C c.(5671-5673)gaG>gaC p.E1891D NAV2_ENST00000540292.1_Missense_Mutation_p.E1878D|NAV2_ENST00000527559.2_Missense_Mutation_p.E1876D|NAV2_ENST00000311043.8_Missense_Mutation_p.E952D|NAV2_ENST00000396087.3_Missense_Mutation_p.E1947D|NAV2_ENST00000349880.4_Missense_Mutation_p.E1888D|NAV2_ENST00000360655.4_Missense_Mutation_p.E1824D|NAV2_ENST00000533917.1_Missense_Mutation_p.E952D NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1947 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GTGAAATAGAGAAGCTGAAAG 0.498000 16 64 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16667298 16667298 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:16667298G>T ENST00000443444.2 + 15 4047 c.3907G>T c.(3907-3909)Gag>Tag p.E1303* RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E1303*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E1303*|CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.E1303*|CCDC144A_ENST00000456009.1_Nonsense_Mutation_p.E1069* A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 1303 GATGATAGCAGAGGTCAGTAC 0.388000 4 47 0.0293803 0.029587 1 1 0 MYH7 4625 broad.mit.edu 37 14 23886468 23886468 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:23886468C>T ENST00000355349.3 - 32 4575 c.4413G>A c.(4411-4413)caG>caA p.Q1471Q NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1471 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GAGCCTCCTTCTGCGAGGACT 0.582000 15 72 0 0 1 0 0 TRBV7-8 28590 broad.mit.edu 37 7 142099708 142099708 + RNA SNP C C T rs138699578 by1000genomes TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:142099708C>T ENST00000390359.3 - 0 132 CCTCTCTTTGCGACTTTGTAC 0.473000 8 23 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103284793 103284793 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:103284793C>G ENST00000520539.1 - 48 7543 c.6937G>C c.(6937-6939)Gag>Cag p.E2313Q UBR5_ENST00000220959.4_Missense_Mutation_p.E2313Q|UBR5_ENST00000518205.1_Missense_Mutation_p.E42Q|UBR5_ENST00000521922.1_Missense_Mutation_p.E2307Q NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2313 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGGATACACTCTAGATTTGGC 0.393000 15 79 0 0 1 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377337 125377337 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:125377337C>T ENST00000297913.2 + 1 390 c.321C>T c.(319-321)ttC>ttT p.F107F RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 TCATTTGCTTCGCCGTCATGG 0.468000 32 103 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57292276 57292276 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:57292276G>C ENST00000543872.2 + 5 3153 c.2889G>C c.(2887-2889)gaG>gaC p.E963D SMG8_ENST00000300917.5_Missense_Mutation_p.E963D|CTD-2510F5.6_ENST00000577660.1_Missense_Mutation_p.E82D Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 963 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 ATGTGACTGAGAGAGGACCTT 0.468000 15 59 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49433365 49433365 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:49433365C>G ENST00000301067.7 - 32 8081 c.8082G>C c.(8080-8082)caG>caC p.Q2694H NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGCGCTGGATCTGCTGCCGAA 0.592000 4 17 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27420074 27420074 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:27420074C>G ENST00000211936.6 - 6 1548 c.1264G>C c.(1264-1266)Gaa>Caa p.E422Q ZNF184_ENST00000377419.1_Missense_Mutation_p.E422Q NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTCCCACATTCATTGCATTCG 0.413000 14 56 0 0 1 0 0 PLS1 5357 broad.mit.edu 37 3 142396880 142396880 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:142396880G>A ENST00000337777.3 + 6 717 c.504G>A c.(502-504)atG>atA p.M168I PLS1_ENST00000497002.1_Missense_Mutation_p.M168I|PLS1_ENST00000457734.2_Missense_Mutation_p.M168I NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 168 Actin-binding 1.|CH 1. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 TTAGCAAAATGATCAACTTAT 0.274000 18 31 0 0 1 0 0 RBM19 9904 broad.mit.edu 37 12 114384248 114384248 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:114384248G>C ENST00000545145.2 - 12 1518 c.1440C>G c.(1438-1440)atC>atG p.I480M RBM19_ENST00000392561.3_Missense_Mutation_p.I480M|RBM19_ENST00000261741.5_Missense_Mutation_p.I480M NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 480 RRM 3. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) CTTCCTTCTTGATGGTAGATG 0.567000 4 16 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 844822 844822 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:844822G>C ENST00000314167.4 - 26 3669 c.3559C>G c.(3559-3561)Caa>Gaa p.Q1187E GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.Q1108E NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 1187 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GAGAAGCCTTGATTGGACAAC 0.463000 18 55 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510104 169510104 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:169510104C>G ENST00000367796.3 - 13 4440 c.4239G>C c.(4237-4239)caG>caC p.Q1413H F5_ENST00000367797.3_Missense_Mutation_p.Q1408H P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1408 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AAAGTGTCATCTGGTCGAGGT 0.517000 10 34 0 0 1 0 0 ZNF565 147929 broad.mit.edu 37 19 36674488 36674488 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:36674488C>G ENST00000355114.5 - 5 1226 c.500G>C c.(499-501)aGa>aCa p.R167T ZNF565_ENST00000304116.5_Missense_Mutation_p.R127T|ZNF565_ENST00000392173.2_Missense_Mutation_p.R127T Q8N9K5 ZN565_HUMAN zinc finger protein 565 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(4)|ovary(1)|skin(2) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) ATTGACTTGTCTCTCAAACTG 0.488000 4 98 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148068996 148068996 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:148068996C>T ENST00000370460.2 + 20 4202 c.3723C>T c.(3721-3723)caC>caT p.H1241H AFF2_ENST00000342251.3_Silent_p.H1208H|AFF2_ENST00000286437.5_Silent_p.H882H|AFF2_ENST00000370457.5_Silent_p.H1206H NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1241 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GCATTCACCACATGGCTGCCA 0.517000 13 57 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165746585 165746585 + Missense_Mutation SNP G G C rs141939882 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:165746585G>C ENST00000366882.1 - 23 2423 c.2269C>G c.(2269-2271)Cga>Gga p.R757G PDE10A_ENST00000539869.2_Missense_Mutation_p.R767G|PDE10A_ENST00000354448.4_Missense_Mutation_p.R757G Q9Y233 PDE10_HUMAN phosphodiesterase 10A 757 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding p.R757*(1) breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TCCTCCCCTCGAATCACCTTC 0.488000 7 39 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134106065 134106065 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:134106065G>C ENST00000359428.5 + 34 6267 c.6123G>C c.(6121-6123)caG>caC p.Q2041H NUP214_ENST00000411637.2_Missense_Mutation_p.Q2031H|NUP214_ENST00000483497.2_Missense_Mutation_p.Q867H|NUP214_ENST00000451030.1_Missense_Mutation_p.Q2042H P35658 NU214_HUMAN nucleoporin 214kDa 2041 11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TCGCGAGTCAGAATGCCCCCA 0.567000 T """DEK, SET, ABL1""" """AML, T-ALL""" 5 29 0 0 1 0 0 C12orf71 728858 broad.mit.edu 37 12 27235188 27235188 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:27235188G>C ENST00000429849.2 - 1 259 c.229C>G c.(229-231)Cag>Gag p.Q77E NM_001080406.1 NP_001073875.1 A8MTZ7 CL071_HUMAN chromosome 12 open reading frame 71 77 endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 GGTTCATCCTGAATTTGGTCT 0.507000 4 21 0 0 1 0 0 ETV6 2120 broad.mit.edu 37 12 12037408 12037408 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:12037408C>G ENST00000396373.4 + 6 1313 c.1039C>G c.(1039-1041)Cag>Gag p.Q347E NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 347 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Q347*(1) ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) TTACGTCTATCAGTTGCTTTC 0.443000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 25 100 0 0 1 0 0 ZNF697 90874 broad.mit.edu 37 1 120165535 120165535 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:120165535G>C ENST00000421812.2 - 3 1550 c.1431C>G c.(1429-1431)ttC>ttG p.F477L NM_001080470.1 NP_001073939.1 Q5TEC3 ZN697_HUMAN zinc finger protein 697 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) TGAGCGTGGAGAAGTCGCTGA 0.647000 5 9 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15829285 15829285 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:15829285C>G ENST00000452625.2 - 27 3552 c.3465G>C c.(3463-3465)ctG>ctC p.L1155L MYH11_ENST00000396324.3_Silent_p.L1155L|MYH11_ENST00000576790.2_Silent_p.L1148L|MYH11_ENST00000300036.5_Silent_p.L1148L NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1148 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TTAGGGCCTCCAGCTCCTCGC 0.612000 T CBFB AML 7 62 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50678733 50678733 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:50678733C>G ENST00000355832.5 - 18 3351 c.3273G>C c.(3271-3273)ttG>ttC p.L1091F RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.L461F NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1091 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GGTCATCTTTCAAAGGATCAC 0.393000 Direct reversal of damage;Nucleotide excision repair (NER) 10 78 0 0 1 0 0 PRPF40A 55660 broad.mit.edu 37 2 153537793 153537793 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:153537793C>G ENST00000410080.1 - 6 944 c.403G>C c.(403-405)Gaa>Caa p.E135Q NM_017892.3 NP_060362.3 O75400 PR40A_HUMAN PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 162 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1) 21 TGTTTGGTTTCAGTGTTGTAG 0.373000 7 74 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25029183 25029183 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:25029183C>T ENST00000381989.3 - 22 2835 c.2730G>A c.(2728-2730)caG>caA p.Q910Q NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 910 VWFA. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TATTTACTTTCTGCTTCTCAC 0.498000 42 134 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585226 7585226 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7585226C>G ENST00000379802.3 + 24 8072 c.7731C>G c.(7729-7731)gtC>gtG p.V2577V DSP_ENST00000418664.2_Silent_p.V1978V NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2577 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GCAGTGGTGTCAGCGATGATG 0.478000 21 37 0 0 1 0 0 TBX4 9496 broad.mit.edu 37 17 59557476 59557476 + Missense_Mutation SNP A A T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:59557476A>T ENST00000393853.4 + 8 980 c.817A>T c.(817-819)Agc>Tgc p.S273C TBX4_ENST00000240335.1_Missense_Mutation_p.S273C|TBX4_ENST00000589449.1_3'UTR P57082 TBX4_HUMAN T-box 4 273 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GATTTCCAAAAGCATCATGAG 0.602000 16 45 0 0 1 0 0 WRAP53 55135 broad.mit.edu 37 17 7592102 7592102 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:7592102G>T ENST00000316024.5 + 1 2484 c.136G>T c.(136-138)Gaa>Taa p.E46* WRAP53_ENST00000534050.1_Nonsense_Mutation_p.E46*|WRAP53_ENST00000396463.2_Nonsense_Mutation_p.E46*|WRAP53_ENST00000431639.2_Nonsense_Mutation_p.E46*|WRAP53_ENST00000457584.2_Nonsense_Mutation_p.E46* Q9BUR4 WAP53_HUMAN WD repeat containing, antisense to TP53 46 Pro-rich. positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 ACCGCCTCCCGAAAGGGGGGA 0.622000 13 38 4.7546e-09 4.99907e-09 1 1 0 UBR1 197131 broad.mit.edu 37 15 43328411 43328411 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:43328411C>A ENST00000290650.4 - 19 2233 c.2155G>T c.(2155-2157)Gag>Tag p.E719* UBR1_ENST00000382177.2_Nonsense_Mutation_p.E719* NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 719 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TTAAAAGCCTCGGCAAGTTCA 0.328000 31 87 1.90571e-15 2.04227e-15 1 1 0 XPR1 9213 broad.mit.edu 37 1 180849374 180849374 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:180849374G>A ENST00000367590.4 + 14 2169 c.1971G>A c.(1969-1971)aaG>aaA p.K657K XPR1_ENST00000367589.3_Silent_p.K592K NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 657 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 ACCGCCAGAAGAATCGGTCAT 0.532000 6 28 0 0 1 0 0 RUNX1 861 broad.mit.edu 37 21 36259161 36259161 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr21:36259161C>G ENST00000344691.4 - 1 1826 c.249G>C c.(247-249)aaG>aaC p.K83N RUNX1_ENST00000437180.1_Missense_Mutation_p.K110N|RUNX1_ENST00000486278.2_Missense_Mutation_p.K86N|RUNX1_ENST00000300305.3_Missense_Mutation_p.K110N|RUNX1_ENST00000399240.1_Missense_Mutation_p.K83N|RUNX1_ENST00000325074.5_Missense_Mutation_p.K98N|RUNX1_ENST00000358356.5_Missense_Mutation_p.K83N NM_001001890.2 NP_001001890.1 Q01196 RUNX1_HUMAN runt-related transcription factor 1 83 Interaction with DNA.|Runt. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.K110N(2)|p.V90_K117del(1) breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 TGGGCAGGGTCTTGTTGCAGC 0.706000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 5 19 0 0 1 0 0 SUGP2 10147 broad.mit.edu 37 19 19136127 19136127 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:19136127C>T ENST00000601879.1 - 3 1327 c.1030G>A c.(1030-1032)Gat>Aat p.D344N SUGP2_ENST00000600377.1_Missense_Mutation_p.D358N|SUGP2_ENST00000337018.6_Missense_Mutation_p.D344N|SUGP2_ENST00000456085.2_Missense_Mutation_p.D113N|SUGP2_ENST00000452918.2_Missense_Mutation_p.D344N Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 344 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 AATTTAATATCATCTTTTATG 0.348000 19 54 0 0 1 0 0 KDM4C 23081 broad.mit.edu 37 9 7011802 7011802 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:7011802G>C ENST00000381309.3 + 13 2456 c.1891G>C c.(1891-1893)Gag>Cag p.E631Q KDM4C_ENST00000381306.3_Missense_Mutation_p.E631Q|KDM4C_ENST00000536108.1_Missense_Mutation_p.E450Q|KDM4C_ENST00000543771.1_Missense_Mutation_p.E631Q|KDM4C_ENST00000428870.2_Missense_Mutation_p.E318Q|KDM4C_ENST00000535193.1_Missense_Mutation_p.E653Q|KDM4C_ENST00000442236.2_Missense_Mutation_p.E376Q NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 631 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 CTTCGCAGCTGAGCAAGAGTA 0.517000 7 24 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25330540 25330540 + RNA SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:25330540G>A ENST00000546682.1 + 0 453 SNHG14_ENST00000553108.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 CTGGATCGATGATGACTTCCT 0.453000 42 157 0 0 1 0 0 NDNL2 56160 broad.mit.edu 37 15 29561277 29561277 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:29561277C>G ENST00000332303.4 - 1 756 c.633G>C c.(631-633)aaG>aaC p.K211N FAM189A1_ENST00000261275.4_Intron NM_138704.3 NP_619649.1 Q96MG7 MAGG1_HUMAN necdin-like 2 211 MAGE. regulation of growth cytoplasm|nucleus breast(3)|large_intestine(2)|lung(3) 8 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TTAAATGCTTCTTGGTGGGGT 0.512000 12 59 0 0 1 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436908 72436908 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:72436908G>A ENST00000392627.1 + 2 2254 c.1128G>A c.(1126-1128)caG>caA p.Q376Q GPRC5C_ENST00000342648.5_Silent_p.Q16Q|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Silent_p.Q343Q NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 331 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 TGAAAGAGCAGAAGGGTCAGA 0.602000 4 29 0 0 1 0 0 DCUN1D5 84259 broad.mit.edu 37 11 102937215 102937215 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:102937215G>A ENST00000260247.5 - 5 765 c.423C>T c.(421-423)atC>atT p.I141I DCUN1D5_ENST00000531543.1_Silent_p.I56I NM_032299.3 NP_115675.1 Q9BTE7 DCNL5_HUMAN DCN1, defective in cullin neddylation 1, domain containing 5 141 DCUN1. NS(1)|central_nervous_system(1)|endometrium(2) 4 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186) CATATCTGTAGATATTCTTAA 0.313000 8 34 0 0 1 0 0 PRSS8 5652 broad.mit.edu 37 16 31143399 31143399 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:31143399C>T ENST00000317508.6 - 6 1226 c.963G>A c.(961-963)ctG>ctA p.L321L PRSS8_ENST00000568261.1_Silent_p.L267L NM_002773.3 NP_002764.1 Q16651 PRSS8_HUMAN protease, serine, 8 321 proteolysis extracellular space|integral to membrane|plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 8 GGATGGGCCTCAGCAAGCCCT 0.652000 3 5 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 700265 700265 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:700265C>T ENST00000549091.1 + 4 383 c.291C>T c.(289-291)gtC>gtT p.V97V WDR90_ENST00000293879.4_Silent_p.V97V NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 97 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) ACAACCAAGTCATCCGTGTGT 0.642000 44 186 0 0 1 0 0 CD2BP2 10421 broad.mit.edu 37 16 30364593 30364593 + Missense_Mutation SNP C C T rs148468793 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:30364593C>T ENST00000305596.3 - 6 999 c.824G>A c.(823-825)gGa>gAa p.G275E CD2BP2_ENST00000569466.1_Missense_Mutation_p.G275E NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 275 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CAGACCATCTCCCCGCGACTC 0.572000 5 55 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12379954 12379954 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:12379954C>G ENST00000256186.2 + 9 2307 c.2016C>G c.(2014-2016)atC>atG p.I672M NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 672 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) AACAACGCATCAGAGAAAAAG 0.502000 29 131 0 0 1 0 0 E2F3 1871 broad.mit.edu 37 6 20402595 20402595 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:20402595C>T ENST00000346618.3 + 1 198 c.132C>T c.(130-132)ttC>ttT p.F44F NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 44 G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) GCCCCGGCTTcgccgccgccg 0.721000 5 14 0 0 1 0 0 PIGW 284098 broad.mit.edu 37 17 34893414 34893414 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:34893414G>A ENST00000592983.1 + 2 1044 c.464G>A c.(463-465)aGa>aAa p.R155K MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Missense_Mutation_p.R155K Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan anchor biosynthesis, class W 155 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TTTCCCAGAAGATTTGCCAAA 0.448000 32 106 0 0 1 0 0 NLGN4Y 22829 broad.mit.edu 37 Y 16734319 16734319 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrY:16734319C>T ENST00000297967.5 + 1 419 c.320C>T c.(319-321)tCt>tTt p.S107F NLGN4Y_ENST00000476359.1_3'UTR NM_001164238.1 NP_001157710.1 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked 107 brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity large_intestine(3)|lung(7)|prostate(2)|skin(2) 14 ACTCAGTTTTCTGCTGTGTGC 0.512000 17 20 0 0 1 0 0 CHRDL1 91851 broad.mit.edu 37 X 109964677 109964677 + Missense_Mutation SNP A A G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:109964677A>G ENST00000218054.4 - 5 576 c.380T>C c.(379-381)cTg>cCg p.L127P CHRDL1_ENST00000394797.4_Missense_Mutation_p.L127P|CHRDL1_ENST00000482160.1_Intron|CHRDL1_ENST00000434224.1_Intron|CHRDL1_ENST00000372045.1_Missense_Mutation_p.L121P|CHRDL1_ENST00000444321.2_Missense_Mutation_p.L127P|CHRDL1_ENST00000372042.1_Missense_Mutation_p.L128P NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 121 VWFC 2. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 AGCTACGAACAGCTCTCCATG 0.493000 100 75 0 0 1 0 0 TRIM13 10206 broad.mit.edu 37 13 50587172 50587172 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:50587172G>C ENST00000378182.3 + 2 1834 c.1096G>C c.(1096-1098)Gaa>Caa p.E366Q TRIM13_ENST00000298772.5_Missense_Mutation_p.E369Q|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000420995.2_Missense_Mutation_p.E366Q|TRIM13_ENST00000356017.4_Missense_Mutation_p.E369Q|TRIM13_ENST00000457662.2_Missense_Mutation_p.E366Q NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1 NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1 O60858 TRI13_HUMAN tripartite motif containing 13 366 anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination cytoplasm|endoplasmic reticulum membrane|integral to membrane protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205) CGATTTCATAGAACAATCAGT 0.373000 17 85 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160846471 160846471 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:160846471G>A ENST00000326245.3 - 8 1040 c.925C>T c.(925-927)Ctt>Ttt p.L309F NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 309 positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TAGAATAGAAGCACAGCTGCC 0.483000 9 49 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127797104 127797104 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:127797104G>C ENST00000556132.1 - 6 2931 c.2067C>G c.(2065-2067)agC>agG p.S689R SOGA3_ENST00000368268.2_Missense_Mutation_p.S689R|SOGA3_ENST00000525778.1_Missense_Mutation_p.S689R|SOGA3_ENST00000465909.2_Missense_Mutation_p.S689R|SOGA3_ENST00000481848.2_Missense_Mutation_p.S689R NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 689 integral to membrane GGTGCCGCGCGCTGTCGTGGC 0.657000 12 51 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40029381 40029381 + Missense_Mutation SNP G G A rs141523814 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:40029381G>A ENST00000372857.3 - 12 2317 c.1525C>T c.(1525-1527)Cgc>Tgc p.R509C PABPC4_ENST00000372856.3_Missense_Mutation_p.R496C|PABPC4_ENST00000372862.3_Missense_Mutation_p.R480C|PABPC4_ENST00000372858.3_Missense_Mutation_p.R525C NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 509 blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) ACAGCAGCGCGTGGCGCTAAG 0.562000 17 36 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086432 56086432 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:56086432C>G ENST00000312711.1 + 1 650 c.650C>G c.(649-651)tCt>tGt p.S217C NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) GTTCTTTTATCTTACCTGCTC 0.383000 11 39 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64597049 64597049 + Silent SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:64597049G>T ENST00000342711.5 - 30 3860 c.3861C>A c.(3859-3861)ctC>ctA p.L1287L NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1287 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 GGAACTCGCTGAGGCTAAGCT 0.677000 5 9 5.9392e-07 6.16692e-07 1 1 0 DHX15 1665 broad.mit.edu 37 4 24578092 24578092 + Nonsense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:24578092G>C ENST00000336812.4 - 2 437 c.281C>G c.(280-282)tCa>tGa p.S94* NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 94 mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) AGAATGTGTTGAATGCGTTGA 0.473000 13 60 0 0 1 0 0 CCIN 881 broad.mit.edu 37 9 36170156 36170156 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:36170156C>G ENST00000335119.2 + 1 768 c.657C>G c.(655-657)ttC>ttG p.F219L NM_005893.2 NP_005884.2 Q13939 CALI_HUMAN calicin 219 BACK. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) TCAAGAAGTTCTTCAATTACA 0.478000 8 36 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67992188 67992188 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:67992188C>T ENST00000397942.3 + 2 600 c.284C>T c.(283-285)tCt>tTt p.S95F SOCS6_ENST00000582322.1_Missense_Mutation_p.S95F NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 95 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GGCACACCCTCTGGGAGCTCT 0.542000 9 54 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13476246 13476246 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:13476246C>T ENST00000360228.5 - 5 668 c.669G>A c.(667-669)atG>atA p.M223I CACNA1A_ENST00000573710.2_Missense_Mutation_p.M223I NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 223 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCAAAGGGATCATCGCCTTCA 0.478000 4 21 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5244386 5244386 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:5244386C>T ENST00000372412.4 - 11 1332 c.1099G>A c.(1099-1101)Gaa>Aaa p.E367K PTPRS_ENST00000587303.1_Missense_Mutation_p.E366K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E362K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E353K|PTPRS_ENST00000588012.1_Missense_Mutation_p.E353K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E366K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E353K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.E353K Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 366 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) GATTTATATTCGATGACGTAA 0.547000 12 36 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38084900 38084900 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr21:38084900C>T ENST00000290399.6 + 3 939 c.326C>T c.(325-327)tCt>tTt p.S109F SIM2_ENST00000430056.3_Missense_Mutation_p.S109F NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 109 PAS 1. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 GAGACCGCTTCTGTCCATTTA 0.388000 15 43 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49660127 49660127 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:49660127G>C ENST00000561648.1 - 5 3584 c.3531C>G c.(3529-3531)ttC>ttG p.F1177L ZNF423_ENST00000563137.2_Missense_Mutation_p.F1117L|ZNF423_ENST00000262383.2_Missense_Mutation_p.F1177L|ZNF423_ENST00000562871.1_Missense_Mutation_p.F1117L|ZNF423_ENST00000567169.1_Missense_Mutation_p.F1060L|ZNF423_ENST00000562520.1_Missense_Mutation_p.F1117L|ZNF423_ENST00000535559.1_Missense_Mutation_p.F1060L NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1177 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) TCTCGTTCTCGAAGGTCATCT 0.433000 22 78 0 0 1 0 0 FBXO22 26263 broad.mit.edu 37 15 76222343 76222343 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:76222343C>G ENST00000308275.3 + 6 852 c.747C>G c.(745-747)atC>atG p.I249M FBXO22_ENST00000453211.2_Missense_Mutation_p.I249M|FBXO22_ENST00000540507.1_Missense_Mutation_p.I145M NM_147188.2 NP_671717.1 Q8NEZ5 FBX22_HUMAN F-box protein 22 249 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TGAATATCATCTTGGCTGGAG 0.438000 15 81 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57441141 57441141 + Missense_Mutation SNP C C T rs151045364 byFrequency TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:57441141C>T ENST00000442789.2 - 6 663 c.376G>A c.(376-378)Gag>Aag p.E126K MYO1A_ENST00000300119.3_Missense_Mutation_p.E126K|MYO1A_ENST00000544473.1_5'UTR NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 126 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 TTCACCTGCTCTCCTTTCCCA 0.577000 21 53 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583545 7583545 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7583545C>T ENST00000379802.3 + 24 6391 c.6050C>T c.(6049-6051)tCt>tTt p.S2017F DSP_ENST00000418664.2_Missense_Mutation_p.S1418F NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2017 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GGTGCAGGATCTATCGCTGGA 0.458000 7 28 0 0 1 0 0 NAP1L4 4676 broad.mit.edu 37 11 2979642 2979642 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:2979642G>A ENST00000380542.4 - 10 1019 c.879C>T c.(877-879)ttC>ttT p.F293F NAP1L4_ENST00000526115.1_Silent_p.F293F NM_005969.3 NP_005960.1 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 293 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) TCAATGGATTGAAGAAGTTGA 0.348000 9 46 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179593656 179593656 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:179593656G>A ENST00000589042.1 - 65 19333 c.19109C>T c.(19108-19110)tCa>tTa p.S6370L TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S6053L|TTN_ENST00000342992.6_Missense_Mutation_p.S5126L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6053 Ig-like 45. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCAACTCCTGACTCATTCTT 0.383000 6 10 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96642272 96642272 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:96642272C>G ENST00000376747.3 - 8 956 c.886G>C c.(886-888)Gag>Cag p.E296Q UGGT2_ENST00000397618.3_Missense_Mutation_p.E296Q|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376714.3_Intron NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 296 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TTGTTACTCTCAATCAGGTAT 0.323000 16 86 0 0 1 0 0 MVP 9961 broad.mit.edu 37 16 29857244 29857244 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:29857244G>C ENST00000357402.5 + 12 2220 c.2082G>C c.(2080-2082)ctG>ctC p.L694L MVP_ENST00000395353.1_Silent_p.L694L NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 694 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 AGAAGATCCTGGACCAGTCAG 0.632000 18 60 0 0 1 0 0 CCDC83 220047 broad.mit.edu 37 11 85593598 85593598 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:85593598C>T ENST00000280245.4 + 4 735 c.223C>T c.(223-225)Cta>Tta p.L75L CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000342404.3_Silent_p.L75L|CCDC83_ENST00000376067.1_Silent_p.L32L NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 75 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CATACGGCATCTACTAAAGGA 0.393000 19 43 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9450095 9450095 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:9450095C>G ENST00000379719.3 + 13 1486 c.1344C>G c.(1342-1344)atC>atG p.I448M NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 448 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) AGAAAAAGATCTATAAAGATC 0.308000 3 17 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121773665 121773665 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:121773665C>T ENST00000393376.1 - 1 211 c.116G>A c.(115-117)aGg>aAg p.R39K AASS_ENST00000417368.2_Missense_Mutation_p.R39K|AASS_ENST00000473553.1_Intron Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 39 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) TAGCGGGGCCCTTCTCTCCCA 0.577000 11 45 0 0 1 0 0 NXPE1 120400 broad.mit.edu 37 11 114401604 114401604 + Silent SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:114401604G>T ENST00000536312.1 - 6 1018 c.126C>A c.(124-126)atC>atA p.I42I NXPE1_ENST00000424269.1_Silent_p.I42I|NXPE1_ENST00000251921.2_5'UTR neurexophilin and PC-esterase domain family, member 1 AATGGACAGAGATGGATAAGT 0.343000 7 28 2.7689e-08 2.89909e-08 1 1 0 ZNF592 9640 broad.mit.edu 37 15 85327787 85327787 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:85327787C>G ENST00000299927.3 + 1 1903 c.1881C>G c.(1879-1881)ttC>ttG p.F627L ZNF592_ENST00000560079.2_Missense_Mutation_p.F627L Q92610 ZN592_HUMAN zinc finger protein 592 627 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGCTCTTCTTCAACAAGTGCA 0.582000 16 53 0 0 1 0 0 BRD9 65980 broad.mit.edu 37 5 887482 887482 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:887482C>T ENST00000323510.4 - 3 362 c.363G>A c.(361-363)atG>atA p.M121I BRD9_ENST00000483173.1_Missense_Mutation_p.M184I|BRD9_ENST00000388890.4_Missense_Mutation_p.M121I|BRD9_ENST00000467963.1_Missense_Mutation_p.M237I|BRD9_ENST00000435709.2_Missense_Mutation_p.M121I Q9H8M2 BRD9_HUMAN bromodomain containing 9 237 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) TTACTTTGCTCATCATCTTAA 0.507000 17 67 0 0 1 0 0 ACBD6 84320 broad.mit.edu 37 1 180461406 180461406 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:180461406G>C ENST00000367595.3 - 3 1069 c.382C>G c.(382-384)Cag>Gag p.Q128E NM_032360.3 NP_115736.1 Q9BR61 ACBD6_HUMAN acyl-CoA binding domain containing 6 128 cytoplasm|nucleus fatty-acyl-CoA binding ACBD6/RRP15(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 7 AGTCTTACCTGAGGATTCCAA 0.343000 13 34 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540510 133540510 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:133540510C>A ENST00000409261.1 - 14 4247 c.3874G>T c.(3874-3876)Gaa>Taa p.E1292* NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.E1292*|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1292 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CCTGACCCTTCGATGGGGGGC 0.542000 13 49 3.27435e-08 3.42474e-08 1 1 0 ARHGAP9 64333 broad.mit.edu 37 12 57872945 57872945 + Missense_Mutation SNP T T A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:57872945T>A ENST00000393797.2 - 5 650 c.458A>T c.(457-459)tAt>tTt p.Y153F ARHGAP9_ENST00000550288.1_Missense_Mutation_p.Y161F|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.Y82F|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.Y82F|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.Y82F Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 82 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CTCTATCATATAGGCTGCTGG 0.552000 21 50 0 0 1 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54649077 54649077 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:54649077G>C ENST00000230640.5 + 14 1767 c.1513G>C c.(1513-1515)Gat>Cat p.D505H SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D404H NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 505 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) CCGCAAATTTGATGGGAAGGA 0.338000 19 62 0 0 1 0 0 EIF2S1 1965 broad.mit.edu 37 14 67849272 67849272 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:67849272G>C ENST00000256383.4 + 7 1248 c.787G>C c.(787-789)Gag>Cag p.E263Q EIF2S1_ENST00000466499.2_Missense_Mutation_p.E263Q NM_004094.4 NP_004085.1 P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 263 cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule protein binding|ribosome binding|translation initiation factor activity breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) AGAGAAGATTGAGGAAAAGAG 0.413000 12 58 0 0 1 0 0 ABCD3 5825 broad.mit.edu 37 1 94884133 94884133 + Silent SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:94884133C>A ENST00000370214.4 + 1 123 c.99C>A c.(97-99)ctC>ctA p.L33L ABCD3_ENST00000394233.2_Silent_p.L33L|ABCD3_ENST00000315713.5_Silent_p.L33L|ABCD3_ENST00000454898.2_Silent_p.L33L|ABCD3_ENST00000536817.1_5'UTR NM_002858.3 NP_002849.1 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D (ALD), member 3 33 Interaction with PEX19.|Targeting to peroxisomes. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) GCCGCGCCCTCGGCCTGCACG 0.701000 3 5 0.115264 0.115726 1 1 0 OR5D14 219436 broad.mit.edu 37 11 55563034 55563034 + Translation_Start_Site SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:55563034G>A ENST00000335605.1 + 1 3 c.3G>A c.(1-3)atG>atA p.M1I NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) AAGGAATTATGATGATGGTTT 0.388000 15 63 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55356535 55356535 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:55356535C>G ENST00000524622.1 - 7 1394 c.733G>C c.(733-735)Gat>Cat p.D245H TESPA1_ENST00000532804.1_Missense_Mutation_p.D245H|TESPA1_ENST00000316577.8_Missense_Mutation_p.D383H|TESPA1_ENST00000531122.1_Missense_Mutation_p.D245H|TESPA1_ENST00000449076.1_Missense_Mutation_p.D383H NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 383 GGGTTCGAATCCAGAGTTTGG 0.512000 8 41 0 0 1 0 0 SFI1 9814 broad.mit.edu 37 22 31957369 31957369 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr22:31957369C>G ENST00000432498.1 + 8 1149 c.756C>G c.(754-756)ctC>ctG p.L252L SFI1_ENST00000400289.1_Silent_p.L170L|SFI1_ENST00000414585.1_Silent_p.L99L|SFI1_ENST00000400288.2_Silent_p.L252L|SFI1_ENST00000540643.1_Silent_p.L228L|SFI1_ENST00000443326.1_Silent_p.L170L|SFI1_ENST00000443011.1_Silent_p.L99L NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 252 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 CCCTGAGCCTCCAGGTGCAGG 0.617000 OREG0026480 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 17 0 0 1 0 0 EIF4E2 9470 broad.mit.edu 37 2 233422658 233422658 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:233422658G>C ENST00000409514.1 + 3 242 c.200G>C c.(199-201)aGa>aCa p.R67T EIF4E2_ENST00000409098.1_Missense_Mutation_p.R67T|EIF4E2_ENST00000409167.3_Intron|EIF4E2_ENST00000258416.3_Missense_Mutation_p.R67T|EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409495.1_Missense_Mutation_p.R67T|EIF4E2_ENST00000409322.1_Intron NM_001282958.1 NP_001269887.1 O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 67 regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TACTCCAGGAGAACCCCCGGC 0.512000 14 41 0 0 1 0 0 PCID2 55795 broad.mit.edu 37 13 113834355 113834355 + Splice_Site SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:113834355C>T ENST00000375457.2 - 12 1452 c.856G>A c.(856-858)Gag>Aag p.E286K PCID2_ENST00000375459.1_Splice_Site_p.E286K|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375477.1_Splice_Site_p.E288K|PCID2_ENST00000246505.5_Splice_Site_p.E342K|PCID2_ENST00000337344.4_Splice_Site_p.E288K|PCID2_ENST00000375479.2_Splice_Site_p.E288K NM_001258213.1 NP_001245142.1 Q5JVF3 PCID2_HUMAN PCI domain containing 2 288 PCI. negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10) 20 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) AGGTTGCCCTCGCTGGTGAGG 0.562000 8 20 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36662829 36662829 + Silent SNP T T C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:36662829T>C ENST00000431169.1 - 7 849 c.549A>G c.(547-549)aaA>aaG p.K183K AOAH_ENST00000258749.5_Silent_p.K183K|AOAH_ENST00000535891.1_Silent_p.K151K NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 183 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 AATCCACATCTTTGAATGGCA 0.363000 6 35 0 0 1 0 0 METTL12 751071 broad.mit.edu 37 11 62434236 62434236 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:62434236C>G ENST00000532971.1 + 3 693 c.436C>G c.(436-438)Cag>Gag p.Q146E C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron NM_001043229.1 NP_001036694.1 A8MUP2 MTL12_HUMAN methyltransferase like 12 146 mitochondrion methyltransferase activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 6 CGCCGATGCTCAGAACCTGGG 0.597000 9 29 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109677668 109677668 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:109677668G>A ENST00000338432.7 + 35 4815 c.4696G>A c.(4696-4698)Gag>Aag p.E1566K ACACB_ENST00000377854.5_Missense_Mutation_p.E1496K|ACACB_ENST00000543201.1_Missense_Mutation_p.E232K|ACACB_ENST00000377848.3_Missense_Mutation_p.E1566K O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1566 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GAACGAGGGTGAGCGGCTGCT 0.617000 5 18 0 0 1 0 0 KLK10 5655 broad.mit.edu 37 19 51520466 51520466 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:51520466G>A ENST00000309958.3 - 3 387 c.169C>T c.(169-171)Cag>Tag p.Q57* KLK10_ENST00000358789.3_Nonsense_Mutation_p.Q57*|KLK10_ENST00000391805.1_Nonsense_Mutation_p.Q57* NM_002776.4 NP_002767.2 O43240 KLK10_HUMAN kallikrein-related peptidase 10 57 Peptidase S1. cell cycle|proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) TGCCAGGGCTGCGAGCCGCGC 0.677000 OREG0025646 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 6 0 0 1 0 0 NRG4 145957 broad.mit.edu 37 15 76301591 76301591 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:76301591C>G ENST00000394907.3 - 3 235 c.54G>C c.(52-54)ctG>ctC p.L18L NRG4_ENST00000535975.1_Silent_p.L18L|NRG4_ENST00000305435.10_Silent_p.L18L NM_138573.3 NP_612640.1 Q8WWG1 NRG4_HUMAN neuregulin 4 18 EGF-like. extracellular region|integral to membrane|plasma membrane growth factor activity large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 GCCCCCCATTCAGGCAAAACG 0.383000 13 50 0 0 1 0 0 LRTOMT 220074 broad.mit.edu 37 11 71806017 71806017 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:71806017G>C ENST00000324866.7 + 5 478 c.312G>C c.(310-312)ctG>ctC p.L104L LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000538478.1_Silent_p.L104L|LRTOMT_ENST00000439209.1_Silent_p.L104L|LRTOMT_ENST00000536917.1_Silent_p.L104L|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000289488.2_Silent_p.L104L|LRTOMT_ENST00000539271.1_5'UTR|LRTOMT_ENST00000541614.1_Silent_p.L104L|LRTOMT_ENST00000539587.1_5'UTR|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000447974.1_Silent_p.L104L|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000423494.2_Silent_p.L86L Q96E66 LRC51_HUMAN leucine rich transmembrane and O-methyltransferase domain containing 104 cytoplasm large_intestine(2)|lung(1)|ovary(1) 4 TCTTCAACCTGAGTGTCCTCT 0.567000 8 65 0 0 1 0 0 KIF24 347240 broad.mit.edu 37 9 34257704 34257704 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:34257704C>G ENST00000379166.2 - 11 2020 c.1901G>C c.(1900-1902)aGa>aCa p.R634T KIF24_ENST00000402558.2_Missense_Mutation_p.R634T|KIF24_ENST00000345050.2_Missense_Mutation_p.R500T|KIF24_ENST00000379174.3_Missense_Mutation_p.R500T NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 634 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) AGGACTCCCTCTGGAGCCACC 0.532000 9 28 0 0 1 0 0 UBXN2A 165324 broad.mit.edu 37 2 24222660 24222660 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:24222660G>C ENST00000309033.4 + 7 947 c.703G>C c.(703-705)Gaa>Caa p.E235Q UBXN2A_ENST00000535786.1_Missense_Mutation_p.E182Q|UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.E235Q NM_181713.3 NP_859064.2 P68543 UBX2A_HUMAN UBX domain protein 2A 235 UBX. endometrium(1)|large_intestine(3)|liver(1)|lung(6) 11 CACACTGGAAGAAGCAGATTT 0.408000 19 58 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31255232 31255232 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:31255232C>G ENST00000407793.2 + 22 2509 c.2258C>G c.(2257-2259)tCc>tGc p.S753C DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.S753C|DDX11_ENST00000228264.6_Missense_Mutation_p.S727C|DDX11_ENST00000545668.1_Missense_Mutation_p.S753C|DDX11_ENST00000350437.4_Missense_Mutation_p.S703C NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 753 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CTGGCATATTCCAGGTGCATC 0.567000 Multiple Myeloma(12;0.14) 11 44 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41204702 41204702 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:41204702G>T ENST00000399959.2 + 12 2071 c.1216G>T c.(1216-1218)Gga>Tga p.G406* DDX3X_ENST00000457138.2_Nonsense_Mutation_p.G390*|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 406 Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 CTTGGCTGTAGGAAGAGTTGG 0.353000 HNSCC(61;0.18) 3 29 0.004672 0.00472386 1 1 0 PGM2L1 283209 broad.mit.edu 37 11 74058370 74058370 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:74058370C>T ENST00000298198.4 - 7 1073 c.762G>A c.(760-762)tcG>tcA p.S254S NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 254 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) AGGTGGTCTTCGAGTTTAACT 0.348000 7 31 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121326259 121326259 + Missense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:121326259G>T ENST00000297848.3 + 38 4814 c.4544G>T c.(4543-4545)gGa>gTa p.G1515V COL14A1_ENST00000309791.4_Missense_Mutation_p.G1515V|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1420V NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1515 Triple-helical region 1 (COL2). 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) TCCATTCAAGGAATGCCCGTG 0.473000 11 49 4.68919e-08 4.89944e-08 1 1 0 CHST4 10164 broad.mit.edu 37 16 71571673 71571673 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:71571673G>C ENST00000338482.5 + 3 1436 c.1093G>C c.(1093-1095)Gaa>Caa p.E365Q CHST4_ENST00000572450.1_Missense_Mutation_p.E365Q|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.E365Q Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 365 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 CGTCAGATCTGAACAAGAACA 0.522000 OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 45 0 0 1 0 0 C17orf104 284071 broad.mit.edu 37 17 42744754 42744754 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:42744754G>A ENST00000409122.2 + 5 1617 c.1475G>A c.(1474-1476)cGa>cAa p.R492Q C17orf104_ENST00000359945.3_Missense_Mutation_p.R492Q|C17orf104_ENST00000409464.1_Missense_Mutation_p.R326Q NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 492 p.R492L(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 ATTCCTTATCGAAATCAAGGT 0.323000 9 31 0 0 1 0 0 C22orf29 79680 broad.mit.edu 37 22 19839740 19839740 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr22:19839740G>C ENST00000405640.1 - 2 713 c.45C>G c.(43-45)atC>atG p.I15M GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.I15M|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.I15M|GNB1L_ENST00000460402.1_Intron Q7L3V2 CV029_HUMAN chromosome 22 open reading frame 29 15 p.I15I(1) NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) CGGCTGCCCAGATGGGAATGC 0.637000 19 55 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35690595 35690595 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr20:35690595G>A ENST00000373664.3 - 8 1041 c.975C>T c.(973-975)gaC>gaT p.D325D RBL1_ENST00000344359.3_Silent_p.D325D NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 325 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) CCTCTTCTGCGTCTGCTCCCA 0.418000 8 33 0 0 1 0 0 DPAGT1 1798 broad.mit.edu 37 11 118972318 118972318 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:118972318G>A ENST00000409993.2 - 3 1599 c.48C>T c.(46-48)atC>atT p.I16I DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Silent_p.I16I|DPAGT1_ENST00000432443.2_5'UTR Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 16 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) GCAGCGAGACGATCAAATTGA 0.617000 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 54 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53062380 53062380 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:53062380G>A ENST00000276480.7 - 16 2647 c.1964C>T c.(1963-1965)gCa>gTa p.A655V NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 655 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTGATAGAATGCTGCATTGAC 0.468000 3 22 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51117064 51117064 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:51117064G>C ENST00000301180.5 + 27 3280 c.3246G>C c.(3244-3246)caG>caC p.Q1082H NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1082 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 CACATGCTCAGAACCTCACGG 0.512000 16 55 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122669239 122669239 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:122669239G>A ENST00000339777.4 + 2 352 c.324G>A c.(322-324)ctG>ctA p.L108L LRRC43_ENST00000425921.1_5'UTR NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 108 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) ACAGTTTCCTGAGAGAATTGG 0.607000 6 12 0 0 1 0 0 OSBPL8 114882 broad.mit.edu 37 12 76796503 76796503 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:76796503G>A ENST00000261183.3 - 6 811 c.332C>T c.(331-333)aCt>aTt p.T111I OSBPL8_ENST00000393250.4_Missense_Mutation_p.T69I|OSBPL8_ENST00000393249.2_Missense_Mutation_p.T69I NM_020841.4 NP_065892.1 Q9BZF1 OSBL8_HUMAN oxysterol binding protein-like 8 111 lipid transport lipid binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2) 28 TTTGCTTGAAGTTGAACTGTC 0.343000 6 16 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33289517 33289517 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:33289517C>G ENST00000374542.5 - 2 390 c.186G>C c.(184-186)gaG>gaC p.E62D DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.E62D NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 62 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GCTTCTCATTCTCCAGCTTGT 0.567000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 41 155 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15215662 15215662 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:15215662G>A ENST00000395930.1 - 7 1201 c.1015C>T c.(1015-1017)Caa>Taa p.Q339* TEKT3_ENST00000338696.2_Nonsense_Mutation_p.Q339* NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 339 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TTGTTGAATTGATTCCACATC 0.448000 16 63 0 0 1 0 0 SPATA7 55812 broad.mit.edu 37 14 88894023 88894023 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:88894023G>A ENST00000556553.1 + 7 1358 c.799G>A c.(799-801)Gaa>Aaa p.E267K SPATA7_ENST00000045347.7_Missense_Mutation_p.E299K|SPATA7_ENST00000393545.4_Missense_Mutation_p.E299K|SPATA7_ENST00000356583.5_Missense_Mutation_p.E267K Q9P0W8 SPAT7_HUMAN spermatogenesis associated 7 299 response to stimulus|visual perception cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 18 GACAGATTCAGAAATGAACAT 0.279000 6 29 0 0 1 0 0 FRK 2444 broad.mit.edu 37 6 116265446 116265446 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:116265446G>C ENST00000606080.1 - 6 1547 c.1101C>G c.(1099-1101)atC>atG p.I367M FRK_ENST00000538210.1_Missense_Mutation_p.I225M NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 367 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) CTACTTTGTAGATATTATGTT 0.403000 11 59 0 0 1 0 0 CLCN3 1182 broad.mit.edu 37 4 170613336 170613336 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:170613336C>G ENST00000513761.1 + 7 1360 c.801C>G c.(799-801)atC>atG p.I267M CLCN3_ENST00000504131.2_Missense_Mutation_p.I250M|CLCN3_ENST00000360642.3_Missense_Mutation_p.I267M|CLCN3_ENST00000347613.4_Missense_Mutation_p.I267M NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 267 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) TTAAAACCATCACATTAGTCC 0.388000 6 87 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7967025 7967025 + Missense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:7967025C>A ENST00000543909.1 - 16 2209 c.1450G>T c.(1450-1452)Gat>Tat p.D484Y SLC2A14_ENST00000542546.1_Missense_Mutation_p.D375Y|SLC2A14_ENST00000340749.5_Missense_Mutation_p.D461Y|SLC2A14_ENST00000396589.2_Missense_Mutation_p.D484Y|SLC2A14_ENST00000539924.1_Missense_Mutation_p.D499Y|SLC2A14_ENST00000542505.1_Missense_Mutation_p.D125Y|SLC2A14_ENST00000431042.2_Missense_Mutation_p.D461Y|SLC2A14_ENST00000535295.1_Missense_Mutation_p.D375Y Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 484 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) CGTGTGATATCCTCAAAAGTC 0.517000 14 83 2.31682e-05 2.37611e-05 1 1 0 CEP85 64793 broad.mit.edu 37 1 26586208 26586208 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:26586208C>T ENST00000252992.4 + 7 1387 c.1256C>T c.(1255-1257)tCt>tTt p.S419F CEP85_ENST00000451429.2_Missense_Mutation_p.S368F NM_001281517.1|NM_022778.2 NP_001268446.1|NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 419 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 CTCTCTGCTTCTGAAGTTGAA 0.453000 13 71 0 0 1 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7670063 7670063 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:7670063G>A ENST00000299492.4 + 19 2218 c.1830G>A c.(1828-1830)aaG>aaA p.K610K PPFIBP2_ENST00000533792.1_Silent_p.K452K|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Silent_p.K467K|PPFIBP2_ENST00000528883.1_Silent_p.K498K NM_003621.3 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 610 SAM 1. cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) TCCACAGGAAGAAGCTTGTTT 0.438000 11 76 0 0 1 0 0 SIX4 51804 broad.mit.edu 37 14 61190745 61190745 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:61190745G>C ENST00000216513.4 - 1 107 c.48C>G c.(46-48)atC>atG p.I16M NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 16 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) TCTCTTGCTTGATGTCCGCCG 0.622000 27 46 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 476392 476392 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:476392G>A ENST00000264938.3 - 13 2001 c.1992C>T c.(1990-1992)ttC>ttT p.F664F CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.F655F NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 664 Interaction with PDZD3 (By similarity). cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) TGGTCGACTTGAAGGACTCCA 0.602000 13 42 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15973811 15973811 + Nonsense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:15973811G>C ENST00000268712.3 - 31 4438 c.4181C>G c.(4180-4182)tCa>tGa p.S1394* NCOR1_ENST00000395857.3_5'UTR|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S1410* NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1394 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGATTGACCTGAGTTGTTGTC 0.433000 9 54 0 0 1 0 0 FBXO34 55030 broad.mit.edu 37 14 55817538 55817538 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:55817538G>C ENST00000313833.4 + 2 675 c.430G>C c.(430-432)Gat>Cat p.D144H FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Missense_Mutation_p.D144H NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 144 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 CTGGGATATTGATGGGAGAGC 0.413000 3 18 0 0 1 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41626226 41626226 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr22:41626226G>T ENST00000216237.5 + 17 2247 c.2089G>T c.(2089-2091)Gag>Tag p.E697* CHADL_ENST00000216241.9_Intron NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 697 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGTCTCCGTCGAGAACATCAA 0.582000 14 28 4.3838e-07 4.56134e-07 1 1 0 IFI16 3428 broad.mit.edu 37 1 158984714 158984714 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:158984714C>G ENST00000295809.7 + 2 499 c.244C>G c.(244-246)Ctt>Gtt p.L82V IFI16_ENST00000368132.3_Missense_Mutation_p.L82V|IFI16_ENST00000368131.4_Missense_Mutation_p.L82V|IFI16_ENST00000448393.2_Missense_Mutation_p.L82V|IFI16_ENST00000430894.2_Missense_Mutation_p.L86V|IFI16_ENST00000340979.6_Missense_Mutation_p.L82V|IFI16_ENST00000359709.3_Missense_Mutation_p.L82V Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 82 DAPIN.|Lys-rich. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) GGCTGAAACTCTTAAAAAAGA 0.443000 4 53 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49448347 49448347 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:49448347C>T ENST00000301067.7 - 3 363 c.364G>A c.(364-366)Gag>Aag p.E122K NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GTAAGGCCCTCAGGGAAACCA 0.597000 4 9 0 0 1 0 0 HCAR2 338442 broad.mit.edu 37 12 123187756 123187756 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:123187756G>C ENST00000328880.5 - 1 134 c.75C>G c.(73-75)ttC>ttG p.F25L RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 25 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) CCTTGACAATGAAGTCATCTC 0.517000 23 74 0 0 1 0 0 TGDS 23483 broad.mit.edu 37 13 95233385 95233385 + Missense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:95233385G>T ENST00000261296.5 - 6 635 c.515C>A c.(514-516)gCt>gAt p.A172D TGDS_ENST00000498294.1_5'UTR NM_014305.2 NP_055120.1 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase 172 cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 all_neural(89;0.0684)|Medulloblastoma(90;0.163) ACATTCAGCAGCTGCTTTAGA 0.303000 7 41 5.4927e-09 5.76907e-09 1 1 0 ADAMTS15 170689 broad.mit.edu 37 11 130319659 130319659 + Missense_Mutation SNP T T C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:130319659T>C ENST00000299164.2 + 1 791 c.791T>C c.(790-792)aTc>aCc p.I264T NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 264 Peptidase M12B. 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) CCCATCAACATCGTTGTGGTC 0.607000 OREG0021518 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 15 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583774 7583774 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7583774C>G ENST00000379802.3 + 24 6620 c.6279C>G c.(6277-6279)atC>atG p.I2093M DSP_ENST00000418664.2_Missense_Mutation_p.I1494M NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2093 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAAAAGCTATCACTGGTTTTG 0.453000 21 101 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133750279 133750279 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:133750279G>A ENST00000318560.5 + 7 1491 c.1110G>A c.(1108-1110)ctG>ctA p.L370L NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 370 Protein kinase. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding p.?(1) breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GAAACTGCCTGGTAGGGGAGA 0.522000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 13 45 0 0 1 0 0 SLC34A3 142680 broad.mit.edu 37 9 140128102 140128102 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:140128102C>T ENST00000538474.1 + 8 998 c.774C>T c.(772-774)atC>atT p.I258I SLC34A3_ENST00000361134.2_Silent_p.I258I NM_001177316.1|NM_001177317.1 NP_001170787|NP_001170788 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 258 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) CCGACATGATCATGAGCAGTG 0.662000 5 63 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057036 9057036 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:9057036G>C ENST00000397910.4 - 3 30613 c.30410C>G c.(30409-30411)tCt>tGt p.S10137C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10139 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGCCATGGAAGAGGGAGTACC 0.463000 10 22 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486351 36486351 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:36486351G>C ENST00000342292.4 - 11 3121 c.3101C>G c.(3100-3102)tCt>tGt p.S1034C NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1034 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TACTGCAACAGAGAGGGCCCT 0.607000 12 35 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 50 0.150653 0.150955 1 1 0 TMEM42 131616 broad.mit.edu 37 3 44905724 44905724 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:44905724G>A ENST00000302392.4 + 2 284 c.228G>A c.(226-228)gtG>gtA p.V76V NM_144638.1 NP_653239.1 Q69YG0 TMM42_HUMAN transmembrane protein 42 76 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576) GCATTATTGTGATGGCGAGCA 0.512000 15 51 0 0 1 0 0 ATP6AP2 10159 broad.mit.edu 37 X 40456901 40456901 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:40456901G>A ENST00000378438.4 + 5 677 c.519G>A c.(517-519)ctG>ctA p.L173L ATP6AP2_ENST00000535539.1_Silent_p.L141L|ATP6AP2_ENST00000544975.1_Silent_p.L97L|ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000486558.1_3'UTR NM_005765.2 NP_005756.2 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory protein 2 173 angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity endometrium(1)|large_intestine(1)|lung(2) 4 TCAATTCTCTGAGTAGGAACA 0.403000 6 34 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9515119 9515119 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:9515119C>T ENST00000402466.1 + 21 3869 c.3101C>T c.(3100-3102)cCa>cTa p.P1034L SETD5_ENST00000406341.1_Missense_Mutation_p.P1132L|SETD5_ENST00000407969.1_Missense_Mutation_p.P1151L|SETD5_ENST00000302463.6_Missense_Mutation_p.P1034L|SETD5_ENST00000402198.1_Missense_Mutation_p.P1132L Q9C0A6 SETD5_HUMAN SET domain containing 5 1132 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AAATTCTCCCCATCTCATTCC 0.527000 3 19 0 0 1 0 0 AMN1 196394 broad.mit.edu 37 12 31850794 31850794 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:31850794G>C ENST00000281471.6 - 4 579 c.414C>G c.(412-414)ctC>ctG p.L138L AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000536761.1_Silent_p.L120L|AMN1_ENST00000542781.1_5'UTR|AMN1_ENST00000537562.1_Silent_p.L120L NM_001113402.1|NM_001278411.1|NM_001278412.1 NP_001106873.1|NP_001265340.1|NP_001265341.1 Q8IY45 AMN1_HUMAN antagonist of mitotic exit network 1 homolog (S. cerevisiae) 138 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 7 all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162) OV - Ovarian serous cystadenocarcinoma(6;0.0014) GCTGGCAATTGAGTGCAAGAG 0.423000 10 32 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77764240 77764240 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:77764240C>G ENST00000521891.2 + 10 5531 c.5083C>G c.(5083-5085)Cag>Gag p.Q1695E ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1650E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1650E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1669E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1650 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q1695*(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGCACAAATTCAGATGCAACT 0.428000 HNSCC(33;0.089) 9 40 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48608565 48608565 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:48608565G>A ENST00000328333.8 - 93 7240 c.7133C>T c.(7132-7134)tCc>tTc p.S2378F COL7A1_ENST00000454817.1_Missense_Mutation_p.S2346F NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2378 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGGCCCAGGGGAGCCCGGGAC 0.642000 10 23 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36485023 36485023 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:36485023C>G ENST00000342292.4 - 11 4449 c.4429G>C c.(4429-4431)Gag>Cag p.E1477Q NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1477 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGACAGATCTCTGCTTTCTGG 0.532000 24 66 0 0 1 0 0 GUCA1A 2978 broad.mit.edu 37 6 42147033 42147033 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:42147033C>G ENST00000394237.1 + 6 1474 c.498C>G c.(496-498)ctC>ctG p.L166L GUCA1A_ENST00000541991.1_Silent_p.L166L|GUCA1A_ENST00000053469.4_Silent_p.L166L|GUCA1A_ENST00000372958.1_Silent_p.L166L P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 166 EF-hand 4. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 7 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ACCAGATGCTCCTGGACACAC 0.597000 9 30 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23907010 23907010 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:23907010G>C ENST00000382298.3 - 10 11593 c.11005C>G c.(11005-11007)Caa>Gaa p.Q3669E SACS_ENST00000402364.1_Missense_Mutation_p.Q2919E|SACS_ENST00000382292.3_Missense_Mutation_p.Q3669E NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3669 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) TCTTGATATTGAGGATGAAAT 0.383000 13 44 0 0 1 0 0 MOCS2 4338 broad.mit.edu 37 5 52404443 52404443 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:52404443C>G ENST00000361377.4 - 2 90 c.49G>C c.(49-51)Gaa>Caa p.E17Q MOCS2_ENST00000396954.3_5'UTR|MOCS2_ENST00000527216.1_Missense_Mutation_p.E12Q|MOCS2_ENST00000582677.1_Missense_Mutation_p.E17Q|MOCS2_ENST00000508922.1_Missense_Mutation_p.E17Q|MOCS2_ENST00000450852.3_Missense_Mutation_p.E17Q|MOCS2_ENST00000510818.2_Missense_Mutation_p.E17Q|MOCS2_ENST00000584946.1_Missense_Mutation_p.E17Q O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 17 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) CCTGTTATTTCAGCACTTTTT 0.368000 6 23 0 0 1 0 0 CD2BP2 10421 broad.mit.edu 37 16 30365287 30365287 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:30365287C>G ENST00000305596.3 - 4 485 c.310G>C c.(310-312)Gat>Cat p.D104H CD2BP2_ENST00000569466.1_Missense_Mutation_p.D104H NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 104 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 TAGTTGCCATCGGCATCAAAG 0.627000 16 50 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45131853 45131853 + RNA SNP G G A rs143888075 by1000genomes TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:45131853G>A ENST00000575173.1 - 0 418 TTTCAAGAATGAAAACCTTGG 0.512000 9 31 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 163635 163635 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:163635G>A ENST00000283426.6 + 11 2430 c.2380G>A c.(2380-2382)Gag>Aag p.E794K NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 794 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CCACCCTGCTGAGGAGGATGG 0.637000 4 5 0 0 1 0 0 GMPPA 29926 broad.mit.edu 37 2 220368919 220368919 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:220368919C>G ENST00000358215.3 + 7 973 c.604C>G c.(604-606)Cag>Gag p.Q202E GMPPA_ENST00000373908.1_Missense_Mutation_p.Q202E|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.Q202E|GMPPA_ENST00000373917.3_Missense_Mutation_p.Q202E|GMPPA_ENST00000313597.5_Missense_Mutation_p.Q202E NM_205847.2 NP_995319.1 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 202 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) CCAGCGTAATCAGCAGGATGG 0.542000 7 21 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183938596 183938596 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:183938596C>G ENST00000361927.4 - 5 1010 c.639G>C c.(637-639)aaG>aaC p.K213N COLGALT2_ENST00000546159.1_Missense_Mutation_p.K213N NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 CTGGGGTCCTCTTATAGAAGC 0.473000 14 22 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121726308 121726308 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:121726308C>T ENST00000452319.1 + 6 722 c.662C>T c.(661-663)cCg>cTg p.P221L GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.P221L P10070 GLI2_HUMAN GLI family zinc finger 2 221 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TTCTCCAGCCCGCGGGTGACG 0.647000 18 45 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41055864 41055864 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:41055864C>G ENST00000399564.4 - 10 1463 c.1013G>C c.(1012-1014)aGa>aCa p.R338T MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GACAGCCAATCTTAACAAAGT 0.423000 10 34 0 0 1 0 0 RCL1 10171 broad.mit.edu 37 9 4844670 4844670 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:4844670G>A ENST00000381750.4 + 7 1079 c.856G>A c.(856-858)Gaa>Aaa p.E286K RCL1_ENST00000448872.2_Missense_Mutation_p.E100K|RCL1_ENST00000381730.1_Missense_Mutation_p.E100K|RCL1_ENST00000381728.1_Missense_Mutation_p.E100K NM_005772.3 NP_005763.3 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 286 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) GCTGCTGGAGGAAATCTACAG 0.552000 12 53 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30666443 30666443 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:30666443C>G ENST00000542965.2 + 7 1608 c.1152C>G c.(1150-1152)gtC>gtG p.V384V PRR14_ENST00000300835.4_Silent_p.V384V|PRR14_ENST00000571654.1_Intron Q9BWN1 PRR14_HUMAN proline rich 14 384 breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) GGAAAGAGGTCTTCCCTCTCG 0.657000 15 49 0 0 1 0 0 CD80 941 broad.mit.edu 37 3 119256241 119256241 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:119256241G>C ENST00000264246.3 - 4 805 c.443C>G c.(442-444)tCt>tGt p.S148C CD80_ENST00000383668.3_Intron|CD80_ENST00000478182.1_Missense_Mutation_p.S148C|CD80_ENST00000383669.3_Missense_Mutation_p.S148C NM_005191.3 NP_005182.1 P33681 CD80_HUMAN CD80 molecule 148 Ig-like C2-type. interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) TTCAAAGTCAGATATACTAGG 0.338000 9 48 0 0 1 0 0 LTV1 84946 broad.mit.edu 37 6 144183372 144183372 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:144183372C>G ENST00000367576.5 + 8 1189 c.1055C>G c.(1054-1056)tCt>tGt p.S352C NM_032860.3 NP_116249.2 Q96GA3 LTV1_HUMAN LTV1 homolog (S. cerevisiae) 352 breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372) GATTGTGAATCTATTTGTAGT 0.388000 5 36 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86041430 86041430 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:86041430G>A ENST00000414626.2 + 9 2271 c.1382G>A c.(1381-1383)aGa>aAa p.R461K LRRCC1_ENST00000360375.3_Missense_Mutation_p.R481K Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 481 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 ATTATTTTTAGAGAGAGAAAT 0.289000 23 104 0 0 1 0 0 OGFOD1 55239 broad.mit.edu 37 16 56501895 56501895 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:56501895G>A ENST00000566157.1 + 8 988 c.865G>A c.(865-867)Gaa>Aaa p.E289K OGFOD1_ENST00000568397.1_Missense_Mutation_p.E246K NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 289 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) AGAGTTTGAAGAAAGTTCTGA 0.383000 5 26 0 0 1 0 0 TUBA1B 10376 broad.mit.edu 37 12 49523287 49523287 + Silent SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:49523287G>T ENST00000336023.5 - 2 316 c.222C>A c.(220-222)gtC>gtA p.V74V RP11-386G11.10_ENST00000547387.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 74 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 ACTCACCAATGACTGTGGGTT 0.567000 22 70 2.32416e-17 2.49337e-17 1 1 0 KDELC1 79070 broad.mit.edu 37 13 103438620 103438620 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:103438620C>T ENST00000376004.4 - 9 1789 c.1453G>A c.(1453-1455)Gag>Aag p.E485K KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 485 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGGTCGTCCTCAGTCTGTGGT 0.428000 13 66 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58289393 58289393 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:58289393C>T ENST00000300896.4 - 19 2365 c.2171G>A c.(2170-2172)aGa>aAa p.R724K USP32_ENST00000592339.1_Missense_Mutation_p.R394K NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 724 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ACCCTTGTGTCTATCTATTTT 0.308000 7 40 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94747137 94747137 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:94747137G>A ENST00000399300.2 - 3 1715 c.1502C>T c.(1501-1503)tCa>tTa p.S501L RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.S501L NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 501 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TCGCTCACGTGACTGTGAGCG 0.403000 23 94 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220364510 220364510 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:220364510G>C ENST00000358951.2 - 14 1503 c.1387C>G c.(1387-1389)Caa>Gaa p.Q463E NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 463 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) ACAAGGAATTGAGCTACTCGA 0.473000 15 80 0 0 1 0 0 CARD16 114769 broad.mit.edu 37 11 104915278 104915278 + Missense_Mutation SNP C C G rs141971448 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:104915278C>G ENST00000375706.2 - 2 132 c.115G>C c.(115-117)Gag>Cag p.E39Q CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.E39Q|CARD16_ENST00000375704.3_Missense_Mutation_p.E39Q|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000415981.2_Intron NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 TTCTCCATCTCTTCCTGGTTC 0.428000 6 181 0 0 1 0 0 FCER2 2208 broad.mit.edu 37 19 7762141 7762141 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:7762141C>T ENST00000346664.5 - 6 509 c.297G>A c.(295-297)caG>caA p.Q99Q FCER2_ENST00000360067.4_Silent_p.Q98Q|FCER2_ENST00000597921.1_Silent_p.Q99Q NM_001220500.1|NM_002002.4 NP_001207429.1|NP_001993.2 P06734 FCER2_HUMAN Fc fragment of IgE, low affinity II, receptor for (CD23) 99 positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity extracellular region|integral to plasma membrane IgE binding|integrin binding|receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 10 TCAATCTCTGCTGTTCAGCTC 0.557000 13 45 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67915412 67915412 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:67915412G>A ENST00000358933.5 + 21 3041 c.2802G>A c.(2800-2802)atG>atA p.M934I NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 934 Sufficient for nuclear localization. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) ATGCAGCCATGGGATCCCGGC 0.587000 8 27 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165948846 165948846 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:165948846C>T ENST00000360093.3 - 27 5216 c.4725G>A c.(4723-4725)ctG>ctA p.L1575L SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000540861.1_Silent_p.L58L|SCN3A_ENST00000283254.7_Silent_p.L1575L|SCN3A_ENST00000409101.3_Silent_p.L1526L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1575 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AGACGAGCTTCAGCACAAATT 0.443000 7 28 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47704783 47704783 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr21:47704783C>G ENST00000397708.1 - 2 672 c.418G>C c.(418-420)Ggg>Cgg p.G140R MCM3AP_ENST00000291688.1_Missense_Mutation_p.G140R O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 140 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TCTGTTTTCCCAAAACCAGAG 0.433000 3 59 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32036356 32036356 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:32036356C>T ENST00000375244.3 - 17 6232 c.6031G>A c.(6031-6033)Gag>Aag p.E2011K TNXB_ENST00000375247.2_Missense_Mutation_p.E2011K P22105 TENX_HUMAN tenascin XB 2093 Fibronectin type-III 12. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AACTGTCCCTCGGGAACTGTC 0.647000 10 39 0 0 1 0 0 H3F3C 440093 broad.mit.edu 37 12 31944918 31944918 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:31944918G>C ENST00000340398.3 - 1 257 c.183C>G c.(181-183)ctC>ctG p.L61L NM_001013699.2 NP_001013721.2 Q6NXT2 H3C_HUMAN H3 histone, family 3C 61 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 GCTTCCGGATGAGCAGCTCGG 0.607000 HNSCC(67;0.2) 14 49 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32634970 32634970 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:32634970G>A ENST00000335185.5 - 16 2937 c.2894C>T c.(2893-2895)cCa>cTa p.P965L NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 965 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TTTCTTACCTGGTCCAATATC 0.289000 9 51 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4116724 4116724 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:4116724C>T ENST00000404826.2 + 21 3244 c.3105C>T c.(3103-3105)ctC>ctT p.L1035L SDK1_ENST00000389531.3_Silent_p.L1035L NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1035 Fibronectin type-III 4. 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) TCCAAGGCCTCTCATCTCTCA 0.572000 7 26 0 0 1 0 0 ZNF3 7551 broad.mit.edu 37 7 99669301 99669301 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:99669301G>C ENST00000303915.6 - 5 1773 c.806C>G c.(805-807)tCt>tGt p.S269C ZNF3_ENST00000424697.1_Missense_Mutation_p.S269C|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000299667.4_Missense_Mutation_p.S269C P17036 ZNF3_HUMAN zinc finger protein 3 269 cell differentiation|leukocyte activation|multicellular organismal development nucleus DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 25 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029) STAD - Stomach adenocarcinoma(171;0.129) AATGAGGGCAGAGCTACAGCT 0.507000 13 54 0 0 1 0 0 TCF25 22980 broad.mit.edu 37 16 89940220 89940220 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:89940220G>A ENST00000263346.8 + 1 201 c.145G>A c.(145-147)Ggg>Agg p.G49R NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 49 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) CCGGCGTCCCGGGGGCGCAGG 0.701000 5 3 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119414050 119414050 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:119414050C>G ENST00000313400.4 - 17 2929 c.2829G>C c.(2827-2829)aaG>aaC p.K943N ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000358637.4_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.K939N|ASTN2_ENST00000341734.4_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.K892N|ASTN2_ENST00000288520.5_Missense_Mutation_p.K44N O75129 ASTN2_HUMAN astrotactin 2 943 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TGAGCTCCTTCTTGCTGCCCA 0.493000 8 21 0 0 1 0 0 MLKL 197259 broad.mit.edu 37 16 74726289 74726289 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:74726289C>T ENST00000308807.7 - 3 949 c.486G>A c.(484-486)ctG>ctA p.L162L MLKL_ENST00000306247.7_Silent_p.L162L NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 162 ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 CTAATCGTCTCAGTGAAGCTT 0.358000 6 36 0 0 1 0 0 GAS7 8522 broad.mit.edu 37 17 9862596 9862596 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:9862596C>T ENST00000580865.1 - 1 183 c.28G>A c.(28-30)Gat>Aat p.D10N GAS7_ENST00000583882.1_Missense_Mutation_p.D10N|GAS7_ENST00000578655.1_Intron|GAS7_ENST00000585266.1_Intron|GAS7_ENST00000437099.2_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000579158.1_Intron|GAS7_ENST00000432992.2_Intron|GAS7_ENST00000323816.4_Intron|GAS7_ENST00000542249.1_Intron|GAS7_ENST00000396115.2_Intron NM_003644.2 NP_003635.2 O60861 GAS7_HUMAN growth arrest-specific 7 0 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 CAAGAAACATCGTCAAAGCTG 0.532000 T MLL AML* OREG0024172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 16 0 0 1 0 0 NHLRC1 378884 broad.mit.edu 37 6 18122786 18122786 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:18122786C>G ENST00000340650.3 - 1 65 c.52G>C c.(52-54)Gag>Cag p.E18Q NM_198586.2 NP_940988.2 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 18 proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding p.E18*(1) breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2) 11 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) ATCTCCGCCTCGCGCATGAGC 0.711000 5 26 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5462056 5462056 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:5462056C>T ENST00000345221.3 - 4 2514 c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.E654K|NLRP1_ENST00000262467.5_Missense_Mutation_p.E654K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E654K|NLRP1_ENST00000269280.4_Missense_Mutation_p.E654K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E654K NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 654 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) AGCGTCTTTTCCAAATCTATG 0.448000 9 54 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47058588 47058588 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:47058588C>T ENST00000409792.3 - 21 7732 c.7690G>A c.(7690-7692)Gag>Aag p.E2564K NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2564 Interaction with POLR2A. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AACAGTCACTCTAATTCAGTG 0.493000 """N, F, S, Mis""" clear cell renal carcinoma 15 47 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021889 5021889 + Missense_Mutation SNP A A C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:5021889A>C ENST00000382545.3 + 2 2452 c.1345A>C c.(1345-1347)Atg>Ctg p.M449L KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 449 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTCCTCTACTATGAGCAAGTC 0.488000 22 123 0 0 1 0 0 NFKBIA 4792 broad.mit.edu 37 14 35871602 35871602 + Missense_Mutation SNP C C G rs116801398 by1000genomes TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:35871602C>G ENST00000216797.5 - 5 1005 c.904G>C c.(904-906)Gag>Cag p.E302Q NFKBIA_ENST00000557389.1_Missense_Mutation_p.E212Q|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E259Q NM_020529.2 NP_065390.1 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 302 anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) AGACTCACCTCGTCCTCTGTG 0.542000 12 49 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71779423 71779423 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:71779423G>C ENST00000299980.4 - 18 2266 c.1825C>G c.(1825-1827)Cca>Gca p.P609A AP1G1_ENST00000569748.1_Missense_Mutation_p.P609A|AP1G1_ENST00000393512.3_Missense_Mutation_p.P612A|AP1G1_ENST00000423132.2_Missense_Mutation_p.P612A|AP1G1_ENST00000433195.2_Missense_Mutation_p.P632A|AP1G1_ENST00000564155.1_Missense_Mutation_p.P34A NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 609 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) GTCTCTAGTGGAGCTGGTTCT 0.517000 13 98 0 0 1 0 0 OR51D1 390038 broad.mit.edu 37 11 4661041 4661041 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:4661041G>A ENST00000357605.2 + 1 97 c.21G>A c.(19-21)ttG>ttA p.L7L NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CCCAGCTCTTGGTCCCTATCA 0.478000 17 86 0 0 1 0 0 GANC 2595 broad.mit.edu 37 15 42585102 42585102 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:42585102C>G ENST00000318010.8 + 5 739 c.499C>G c.(499-501)Ctt>Gtt p.L167V GANC_ENST00000566442.1_Missense_Mutation_p.L167V NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 167 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) TCTACAGATTCTTCACAAACA 0.363000 5 60 0 0 1 0 0 VARS2 57176 broad.mit.edu 37 6 30883179 30883179 + Missense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:30883179G>T ENST00000321897.5 + 3 963 c.331G>T c.(331-333)Gct>Tct p.A111S VARS2_ENST00000416670.2_Missense_Mutation_p.A111S|VARS2_ENST00000541562.1_Missense_Mutation_p.A141S|VARS2_ENST00000542001.1_5'UTR Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 111 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 ATATGTTGAGGCTGCCTGGTA 0.552000 22 79 5.35356e-11 5.65851e-11 1 1 0 IFI16 3428 broad.mit.edu 37 1 158990177 158990177 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:158990177G>C ENST00000295809.7 + 6 1274 c.1019G>C c.(1018-1020)aGa>aCa p.R340T IFI16_ENST00000368132.3_Missense_Mutation_p.R340T|IFI16_ENST00000368131.4_Missense_Mutation_p.R340T|IFI16_ENST00000448393.2_Missense_Mutation_p.R340T|IFI16_ENST00000430894.2_Missense_Mutation_p.R288T|IFI16_ENST00000340979.6_Missense_Mutation_p.R340T|IFI16_ENST00000359709.3_Missense_Mutation_p.R284T Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 340 HIN-200 1. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) CAGGATGATAGAGGAAAAATG 0.358000 24 42 0 0 1 0 0 PNP 4860 broad.mit.edu 37 14 20943315 20943315 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:20943315G>A ENST00000361505.5 + 5 702 c.556G>A c.(556-558)Gag>Aag p.E186K RP11-203M5.8_ENST00000554678.1_lincRNA NM_000270.3 NP_000261.2 P00491 PNPH_HUMAN purine nucleoside phosphorylase 186 immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process cytoskeleton|cytosol drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2) 10 Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033) GGAGCAACGTGAGCTACAGGA 0.557000 9 43 0 0 1 0 0 ESYT2 57488 broad.mit.edu 37 7 158554234 158554234 + Splice_Site SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:158554234G>A ENST00000251527.5 - 11 1395 c.1330C>T c.(1330-1332)Ctt>Ttt p.L444F NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 472 C2 1. integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TCAATCATAAGACTATAAAAA 0.353000 13 68 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118348836 118348836 + Silent SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:118348836G>T ENST00000534358.1 + 5 3512 c.3489G>T c.(3487-3489)gtG>gtT p.V1163V KMT2A_ENST00000354520.4_Silent_p.V1163V|KMT2A_ENST00000389506.5_Silent_p.V1163V NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GCTGCCAGGTGCCTGAGGACT 0.498000 4 104 1 1 1 1 0 RBM12B 389677 broad.mit.edu 37 8 94747051 94747051 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:94747051G>A ENST00000399300.2 - 3 1801 c.1588C>T c.(1588-1590)Cag>Tag p.Q530* RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Nonsense_Mutation_p.Q530* NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 530 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TCCTCTAGCTGATGTCTAAAG 0.493000 10 65 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54656052 54656052 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:54656052G>A ENST00000406403.1 + 13 3298 c.1695G>A c.(1693-1695)ctG>ctA p.L565L CNOT3_ENST00000358389.3_Silent_p.L384L|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Silent_p.L565L O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 565 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CGCTGCACCTGACCGAGCGAG 0.667000 10 28 0 0 1 0 0 USP9Y 8287 broad.mit.edu 37 Y 14847563 14847563 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrY:14847563C>T ENST00000338981.3 + 8 1620 c.675C>T c.(673-675)ctC>ctT p.L225L USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 225 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TAGTGGATCTCATCAATAAAT 0.308000 3 6 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54657241 54657241 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:54657241G>A ENST00000358389.3 + 18 2569 c.1715G>A c.(1714-1716)tGa>tAa p.*572* CNOT3_ENST00000406403.1_Intron|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Intron O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 0 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) AAGCTTCTCTGAAAGCAATTT 0.468000 9 32 0 0 1 0 0 RBM43 375287 broad.mit.edu 37 2 152109296 152109296 + Silent SNP A A G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:152109296A>G ENST00000331426.5 - 3 439 c.288T>C c.(286-288)tcT>tcC p.S96S NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 96 RRM. nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) AGACTCTGAGAGAGACTGTGA 0.423000 15 64 0 0 1 0 0 ACP6 51205 broad.mit.edu 37 1 147131848 147131848 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:147131848G>C ENST00000369238.6 - 2 709 c.262C>G c.(262-264)Cag>Gag p.Q88E ACP6_ENST00000392988.2_Missense_Mutation_p.Q88E NM_016361.3 NP_057445.4 Q9NPH0 PPA6_HUMAN acid phosphatase 6, lysophosphatidic lipid metabolic process extracellular region|mitochondrion acid phosphatase activity|protein binding breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1) 16 all_hematologic(923;0.0276) TAATCAAACTGAGTTTGGGGT 0.433000 3 65 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83361431 83361431 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:83361431G>A ENST00000262752.2 - 15 1314 c.1307C>T c.(1306-1308)tCc>tTc p.S436F RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S436F|RPS6KA6_ENST00000495332.1_5'UTR NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 436 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 AACAGAGTAGGAGCCAACACC 0.358000 8 10 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794549 15794549 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:15794549C>T ENST00000550308.1 + 7 1274 c.894C>T c.(892-894)ttC>ttT p.F298F CYP4F12_ENST00000324632.10_Silent_p.F298F NM_023944.3 NP_076433 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CTTTGGATTTCATTGATGTGC 0.438000 19 112 0 0 1 0 0 ZNF486 90649 broad.mit.edu 37 19 20308213 20308213 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:20308213C>G ENST00000335117.8 + 4 751 c.694C>G c.(694-696)Cat>Gat p.H232D CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 TAAGATAACTCATACTAGAGA 0.363000 18 77 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46295205 46295205 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:46295205G>C ENST00000361297.2 + 3 703 c.420G>C c.(418-420)atG>atC p.M140I MAST2_ENST00000372009.2_Missense_Mutation_p.M140I NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 140 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) TGGTTCGAATGAGAAACCAGT 0.473000 11 40 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73053170 73053170 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:73053170C>T ENST00000335350.6 + 12 2197 c.1781C>T c.(1780-1782)tCa>tTa p.S594L UNC5B_ENST00000373192.4_Missense_Mutation_p.S583L NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 594 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 AGCCCGCTTTCAGAAGGGACC 0.652000 13 39 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11047380 11047380 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:11047380G>A ENST00000379261.4 + 1 122 c.30G>A c.(28-30)atG>atA p.M10I CELF2_ENST00000416382.2_Missense_Mutation_p.M10I NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 10 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CTGTTACTATGAGAAATGAAG 0.413000 32 105 0 0 1 0 0 GPHN 10243 broad.mit.edu 37 14 67525466 67525466 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:67525466G>A ENST00000478722.1 + 11 2228 c.1107G>A c.(1105-1107)atG>atA p.M369I GPHN_ENST00000543237.1_Missense_Mutation_p.M382I|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Missense_Mutation_p.M351I|GPHN_ENST00000305960.9_Missense_Mutation_p.M305I|GPHN_ENST00000315266.5_Missense_Mutation_p.M336I NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 336 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) TCCTGGAGATGACTCCGGTGC 0.413000 T MLL AL 6 81 0 0 1 0 0 RP11-93K22.13 0 broad.mit.edu 37 3 129811026 129811026 + RNA SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:129811026G>A ENST00000514010.1 - 0 157 ALG1L2_ENST00000507643.1_RNA GCGTCTCCACGAGCGGCCAGC 0.617000 3 23 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11758537 11758537 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:11758537C>T ENST00000381486.2 + 22 3836 c.3536C>T c.(3535-3537)cCc>cTc p.P1179L GREB1_ENST00000396123.1_Missense_Mutation_p.P177L|GREB1_ENST00000234142.5_Missense_Mutation_p.P1179L NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1179 Ser-rich. integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) AAACAGAGGCCCCGGGCAAGT 0.721000 4 5 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 69064835 69064835 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:69064835G>A ENST00000342771.4 + 1 517 c.196G>A c.(196-198)Gcc>Acc p.A66T AUTS2_ENST00000406775.2_Missense_Mutation_p.A66T|AUTS2_ENST00000403018.2_Missense_Mutation_p.A66T NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 66 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CCCGTCCTCCGCCCCGTCCCG 0.687000 3 14 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622169 41622169 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:41622169G>C ENST00000331105.2 + 2 148 c.76G>C c.(76-78)Gat>Cat p.D26H NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 26 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 AAGCTCAAGAGATAAGGGAAA 0.562000 24 97 0 0 1 0 0 PSMD6 9861 broad.mit.edu 37 3 64004503 64004503 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:64004503G>C ENST00000492933.1 - 5 919 c.867C>G c.(865-867)ctC>ctG p.L289L PSMD6_ENST00000394431.2_Silent_p.L198L|PSMD6_ENST00000482510.1_Silent_p.L197L|PSMD6_ENST00000295901.4_Silent_p.L236L NM_001271779.1 NP_001258708.1 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 236 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex ATPase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1) 13 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) CCTTTTCCCTGAGATCTGGTC 0.274000 8 24 0 0 1 0 0 SUMO2 6613 broad.mit.edu 37 17 73177191 73177191 + Silent SNP T T C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:73177191T>C ENST00000420826.2 - 2 262 c.114A>G c.(112-114)acA>acG p.T38T SUMO2_ENST00000578238.1_5'UTR|SUMO2_ENST00000314523.7_Silent_p.T38T NM_006937.3 NP_008868.3 P61956 SUMO2_HUMAN small ubiquitin-like modifier 2 38 Ubiquitin-like. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation nucleus ubiquitin protein ligase binding NS(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) TACTAAGTGGTGTATGCCTCT 0.363000 3 48 0 0 1 0 0 C11orf24 53838 broad.mit.edu 37 11 68030116 68030116 + Missense_Mutation SNP G G A rs150492129 byFrequency TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:68030116G>A ENST00000304271.6 - 4 749 c.347C>T c.(346-348)gCg>gTg p.A116V C11orf24_ENST00000530166.1_5'UTR|C11orf24_ENST00000533310.1_Intron NM_022338.3 NP_071733.1 Q96F05 CK024_HUMAN chromosome 11 open reading frame 24 116 integral to membrane endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 AATGGAGGCCGCAGTCGTACT 0.592000 6 17 0 0 1 0 0 AGT 183 broad.mit.edu 37 1 230841752 230841752 + Missense_Mutation SNP A A G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:230841752A>G ENST00000366667.4 - 3 1265 c.1051T>C c.(1051-1053)Tct>Cct p.S351P NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 351 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) TCCAGGTCAGAGGCATAGTGA 0.567000 20 54 0 0 1 0 0 DDX58 23586 broad.mit.edu 37 9 32488167 32488167 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:32488167C>G ENST00000379882.1 - 7 1010 c.853G>C c.(853-855)Gag>Cag p.E285Q DDX58_ENST00000545044.1_Missense_Mutation_p.E127Q|DDX58_ENST00000542096.1_Missense_Mutation_p.E259Q|DDX58_ENST00000379868.1_Missense_Mutation_p.E127Q|DDX58_ENST00000379883.2_Missense_Mutation_p.E330Q O95786 DDX58_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 330 Helicase ATP-binding. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) GGGACATTCTCAGCTGTTGCT 0.393000 9 56 0 0 1 0 0 ADRBK1 156 broad.mit.edu 37 11 67049005 67049005 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:67049005C>G ENST00000308595.5 + 9 1013 c.723C>G c.(721-723)atC>atG p.I241M ADRBK1_ENST00000526285.1_Missense_Mutation_p.I241M NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 241 Protein kinase. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) ACGAGCGCATCATGCTCTCGC 0.662000 7 29 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49421090 49421090 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:49421090C>A ENST00000301067.7 - 48 14658 c.14659G>T c.(14659-14661)Gag>Tag p.E4887* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GTGGGTGGCTCTGGGGCGGGG 0.607000 17 79 1.50039e-11 1.59765e-11 1 1 0 RC3H1 149041 broad.mit.edu 37 1 173947732 173947732 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:173947732C>G ENST00000367696.2 - 7 1347 c.996G>C c.(994-996)caG>caC p.Q332H RC3H1_ENST00000367694.2_Missense_Mutation_p.Q332H|RC3H1_ENST00000258349.4_Missense_Mutation_p.Q332H Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 332 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 CCTGAACACTCTGTGCAAAAG 0.383000 9 51 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122826046 122826046 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:122826046C>G ENST00000358808.2 - 10 1826 c.1672G>C c.(1672-1674)Gaa>Caa p.E558Q CLIP1_ENST00000361654.4_Missense_Mutation_p.E523Q|CLIP1_ENST00000545889.1_Missense_Mutation_p.E259Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.E523Q|CLIP1_ENST00000540338.1_Missense_Mutation_p.E569Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.E558Q NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 569 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) GAAGTTATTTCTCTCTGGTGG 0.453000 53 177 0 0 1 0 0 CNTROB 116840 broad.mit.edu 37 17 7840088 7840088 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:7840088C>G ENST00000380262.3 + 6 1706 c.781C>G c.(781-783)Caa>Gaa p.Q261E CNTROB_ENST00000380255.3_Missense_Mutation_p.Q261E|CNTROB_ENST00000563694.1_Missense_Mutation_p.Q261E|CNTROB_ENST00000565740.1_Missense_Mutation_p.Q261E NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 261 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) CAGGGGACTTCAAGAGGAACA 0.552000 6 30 0 0 1 0 0 HTR7 3363 broad.mit.edu 37 10 92508615 92508615 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:92508615C>G ENST00000371721.3 - 2 1518 c.1276G>C c.(1276-1278)Gag>Cag p.E426Q HTR7_ENST00000371719.2_Missense_Mutation_p.E426Q|HTR7_ENST00000336152.3_Missense_Mutation_p.E426Q|HTR7_ENST00000277874.6_Missense_Mutation_p.E426Q P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 426 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) TCAGGTCTCTCTGGCCTCTCA 0.498000 36 46 0 0 1 0 0 CDH19 28513 broad.mit.edu 37 18 64178814 64178814 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:64178814C>T ENST00000262150.2 - 10 1859 c.1567G>A c.(1567-1569)Gat>Aat p.D523N CDH19_ENST00000540086.1_Intron NM_021153.3 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 523 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) CCTTGATTATCTATGATTGTA 0.308000 9 59 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7494394 7494394 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:7494394G>A ENST00000486284.1 + 6 1549 c.1275G>A c.(1273-1275)atG>atA p.M425I GRM7_ENST00000357716.4_Missense_Mutation_p.M425I|GRM7_ENST00000402647.2_Missense_Mutation_p.M425I|GRM7_ENST00000389336.4_Missense_Mutation_p.M425I|GRM7_ENST00000403881.1_Missense_Mutation_p.M425I|GRM7_ENST00000458641.2_3'UTR NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 425 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding p.M425I(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TTCACCACATGAACAAGGATC 0.478000 5 23 0 0 1 0 0 EEA1 8411 broad.mit.edu 37 12 93169883 93169883 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:93169883G>C ENST00000322349.8 - 29 4404 c.4140C>G c.(4138-4140)atC>atG p.I1380M NM_003566.3 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1 1380 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 CAGCACAGAAGATATTTCCAC 0.368000 7 27 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583435 7583435 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7583435C>G ENST00000379802.3 + 24 6281 c.5940C>G c.(5938-5940)ctC>ctG p.L1980L DSP_ENST00000418664.2_Silent_p.L1381L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1980 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CAATGCAGCTCTATGAGTGTC 0.502000 4 20 0 0 1 0 0 SNRK 54861 broad.mit.edu 37 3 43381978 43381978 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:43381978G>A ENST00000296088.7 + 5 1235 c.931G>A c.(931-933)Gac>Aac p.D311N SNRK_ENST00000454177.1_Missense_Mutation_p.D311N|SNRK_ENST00000429705.2_Missense_Mutation_p.D311N|SNRK_ENST00000437827.1_Missense_Mutation_p.D105N NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase 311 UBA. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) AGCGGATCGAGACGCCATTGT 0.483000 4 30 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169336860 169336860 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:169336860G>A ENST00000511577.1 - 21 3064 c.2817C>T c.(2815-2817)ctC>ctT p.L939L DDX60L_ENST00000505890.1_Silent_p.L939L|DDX60L_ENST00000260184.7_Silent_p.L939L Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 939 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GGAGAAAGTTGAGACATTTGT 0.299000 3 13 0 0 1 0 0 TAOK1 57551 broad.mit.edu 37 17 27809258 27809258 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:27809258G>C ENST00000261716.3 + 8 1126 c.607G>C c.(607-609)Gat>Cat p.D203H TAOK1_ENST00000536202.1_Missense_Mutation_p.D203H NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 203 Protein kinase. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) AGGACAATATGATGGCAAAGT 0.308000 11 71 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57373917 57373917 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:57373917G>A ENST00000403558.1 + 5 1421 c.1055G>A c.(1054-1056)aGa>aAa p.R352K SERPING1_ENST00000278407.4_Missense_Mutation_p.R309K|SERPING1_ENST00000340687.6_Missense_Mutation_p.R309K|SERPING1_ENST00000378323.4_Missense_Mutation_p.R314K|SERPING1_ENST00000378324.2_Missense_Mutation_p.R257K NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 309 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 AAGAAAACCAGAATGGAACCC 0.433000 27 55 0 0 1 0 0 NDUFA8 4702 broad.mit.edu 37 9 124914585 124914585 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:124914585C>G ENST00000537618.1 - 2 263 c.154G>C c.(154-156)Gat>Cat p.D52H NDUFA8_ENST00000373768.3_Missense_Mutation_p.D52H P51970 NDUA8_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa 52 CHCH 1. mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 NADH(DB00157) CGCCTCGGATCTTTCTCTTCC 0.458000 14 27 0 0 1 0 0 CARS2 79587 broad.mit.edu 37 13 111296830 111296830 + Splice_Site SNP C C A rs965189 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:111296830C>A ENST00000257347.4 - 13 1381 c.1318G>T c.(1318-1320)Gaa>Taa p.E440* CARS2_ENST00000535398.1_5'UTR NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 440 E -> K (in dbSNP:rs965189). cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) CCTTCAGGTTCCTGTAAGAGA 0.443000 9 36 7.48243e-07 7.74524e-07 1 1 0 PTPN2 5771 broad.mit.edu 37 18 12794399 12794399 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:12794399C>A ENST00000309660.5 - 9 1219 c.1126G>T c.(1126-1128)Gaa>Taa p.E376* PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000591497.1_Nonsense_Mutation_p.E347*|PTPN2_ENST00000591115.1_Nonsense_Mutation_p.E399*|PTPN2_ENST00000327283.3_Nonsense_Mutation_p.E376* NM_002828.3 NP_002819.2 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 2 376 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3) 13 Lung NSC(161;8.94e-06) CTTTTTCGTTCATTCTCATTT 0.428000 8 50 0.00307968 0.00312332 1 1 0 SH3BGRL 6451 broad.mit.edu 37 X 80532491 80532491 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:80532491G>A ENST00000373212.5 + 2 312 c.54G>A c.(52-54)aaG>aaA p.K18K SH3BGRL_ENST00000481106.1_3'UTR NM_003022.2 NP_003013.1 O75368 SH3L1_HUMAN SH3 domain binding glutamic acid-rich protein like 18 cytoplasm|nucleus SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(2)|ovary(1) 4 all_lung(315;5.94e-05) AGATTAAGAAGAAACAACAAG 0.363000 5 13 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70991936 70991936 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:70991936C>G ENST00000322954.6 - 2 327 c.142G>C c.(142-144)Gaa>Caa p.E48Q UACA_ENST00000539319.1_Missense_Mutation_p.E48Q|UACA_ENST00000379983.2_Missense_Mutation_p.E35Q|UACA_ENST00000560441.1_Missense_Mutation_p.E35Q NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 48 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 GTCACTTTTTCTACATCCCCC 0.378000 15 56 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24933898 24933898 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:24933898G>A ENST00000405141.1 + 15 3228 c.2517G>A c.(2515-2517)gcG>gcA p.A839A NCOA1_ENST00000395856.3_Silent_p.A839A|NCOA1_ENST00000406961.1_Silent_p.A839A|NCOA1_ENST00000538539.1_Silent_p.A839A|NCOA1_ENST00000348332.3_Silent_p.A839A|NCOA1_ENST00000407230.1_Silent_p.A688A|NCOA1_ENST00000288599.5_Silent_p.A839A Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 839 Interaction with CREBBP. p.A839A(2) PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGATGGTGCGGTCACCAGTG 0.522000 T PAX3 alveolar rhadomyosarcoma 8 30 0 0 1 0 0 UBR3 130507 broad.mit.edu 37 2 170885907 170885907 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:170885907C>G ENST00000272793.5 + 31 4555 c.4505C>G c.(4504-4506)tCt>tGt p.S1502C UBR3_ENST00000418381.1_Missense_Mutation_p.S1502C|UBR3_ENST00000392631.1_Missense_Mutation_p.S323C|UBR3_ENST00000465630.1_3'UTR Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1502 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 AGCATTGACTCTGAGTATAAT 0.333000 8 52 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56171087 56171087 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:56171087C>T ENST00000399503.3 + 10 1915 c.1915C>T c.(1915-1917)Ctg>Ttg p.L639L NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 639 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) CTGCAGCGTTCTGTCAATGGT 0.507000 8 33 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518320 108518320 + Missense_Mutation SNP T T C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:108518320T>C ENST00000375915.2 - 1 763 c.625A>G c.(625-627)Agc>Ggc p.S209G NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 209 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GGATGCTTGCTCCTCACCTCC 0.607000 4 42 0 0 1 0 0 OPLAH 26873 broad.mit.edu 37 8 145111642 145111642 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:145111642C>T ENST00000426825.1 - 13 1804 c.1723G>A c.(1723-1725)Gag>Aag p.E575K OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 575 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) AGGAAGCTCTCAGTGCTGATC 0.672000 5 14 0 0 1 0 0 SLC7A8 23428 broad.mit.edu 37 14 23597298 23597298 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:23597298C>T ENST00000316902.7 - 10 2096 c.1371G>A c.(1369-1371)ctG>ctA p.L457L SLC7A8_ENST00000529705.2_Silent_p.L352L|SLC7A8_ENST00000453702.1_Silent_p.L254L|SLC7A8_ENST00000422941.2_Silent_p.L233L|SLC7A8_ENST00000469263.1_Intron NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 457 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) GCACTCCTGTCAGCATGATGG 0.542000 8 23 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558623 129558623 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:129558623C>T ENST00000422113.2 - 9 3423 c.3097G>A c.(3097-3099)Gag>Aag p.E1033K TMEM132D_ENST00000389441.4_Missense_Mutation_p.E571K NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1033 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GTTGGGGGCTCACTTTTCTGA 0.473000 14 53 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131356617 131356617 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:131356617G>A ENST00000358161.5 + 24 3492 c.3379G>A c.(3379-3381)Gag>Aag p.E1127K SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1127K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1127K Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1127 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GGAGCAGGTTGAGGTGCTCCA 0.438000 10 15 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46303817 46303817 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:46303817G>A ENST00000221538.3 - 5 1945 c.1803C>T c.(1801-1803)atC>atT p.I601I RSPH6A_ENST00000600188.1_Silent_p.I337I|RSPH6A_ENST00000597055.1_Silent_p.I601I NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 601 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 CCAGGTGCATGATTTCTGTGG 0.672000 8 11 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6691315 6691315 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:6691315C>T ENST00000309577.6 - 29 4750 c.4587G>A c.(4585-4587)ttG>ttA p.L1529L RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Silent_p.L1494L|CHD4_ENST00000544484.1_Silent_p.L1526L|CHD4_ENST00000357008.2_Silent_p.L1501L Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1501 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TCTTGCGAATCAAAGACATAA 0.577000 3 15 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62972283 62972283 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:62972283G>A ENST00000393630.3 + 32 4967 c.4576G>A c.(4576-4578)Gag>Aag p.E1526K MON2_ENST00000280379.6_Missense_Mutation_p.E1526K|MON2_ENST00000393629.2_Missense_Mutation_p.E1519K|MON2_ENST00000552738.1_Missense_Mutation_p.E1496K|MON2_ENST00000393632.2_Missense_Mutation_p.E1525K|MON2_ENST00000546600.1_Missense_Mutation_p.E1525K NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 1526 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TATTGATGTCGAGGTAAGGAG 0.279000 4 25 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114184792 114184792 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:114184792G>A ENST00000369615.1 + 10 1682 c.1620G>A c.(1618-1620)caG>caA p.Q540Q MAGI3_ENST00000369611.4_Silent_p.Q540Q|MAGI3_ENST00000307546.9_Silent_p.Q540Q|MAGI3_ENST00000369617.4_Silent_p.Q565Q NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 565 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCTGGAGCAGAATGGAAAAT 0.493000 16 54 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58831508 58831508 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:58831508G>C ENST00000355431.3 + 20 3074 c.2701G>C c.(2701-2703)Gaa>Caa p.E901Q ARID4A_ENST00000395168.3_Missense_Mutation_p.E901Q|ARID4A_ENST00000431317.2_Missense_Mutation_p.E901Q|ARID4A_ENST00000348476.3_Missense_Mutation_p.E901Q NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 901 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CTTAAATTTTGAACAGCACTT 0.348000 10 29 0 0 1 0 0 GRHL1 29841 broad.mit.edu 37 2 10095215 10095215 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:10095215C>G ENST00000324907.9 + 2 328 c.192C>G c.(190-192)ctC>ctG p.L64L GRHL1_ENST00000324883.5_5'UTR|GRHL1_ENST00000405379.2_Silent_p.L64L NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 64 Transcription activation. cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TGGGCCTGCTCTATGACTACT 0.502000 3 15 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158548928 158548928 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:158548928G>A ENST00000368150.1 - 1 761 c.762C>T c.(760-762)ttC>ttT p.F254F NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) CACAGGTGGTGAAGGCCTTCT 0.483000 6 81 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804562 27804562 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:27804562G>A ENST00000408964.2 + 1 5174 c.5123G>A c.(5122-5124)aGa>aAa p.R1708K NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1708 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. p.R1708I(1) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CCCTCTGAGAGAAGACATCAC 0.582000 36 144 0 0 1 0 0 KRT34 3885 broad.mit.edu 37 17 39535670 39535670 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:39535670C>T ENST00000394001.1 - 5 967 c.937G>A c.(937-939)Gag>Aag p.E313K NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 313 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) TCGATGATCTCCGCCTGGCAG 0.587000 5 48 0 0 1 0 0 ZNF426 79088 broad.mit.edu 37 19 9640120 9640120 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:9640120G>A ENST00000593003.1 - 6 964 c.487C>T c.(487-489)Cag>Tag p.Q163* ZNF426_ENST00000253115.2_Nonsense_Mutation_p.Q201*|ZNF426_ENST00000535489.1_Nonsense_Mutation_p.Q201*|ZNF426_ENST00000589289.1_3'UTR Q9BUY5 ZN426_HUMAN zinc finger protein 426 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 TTTTCACTCTGATTAAACTCA 0.373000 11 64 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106523498 106523498 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:106523498G>C ENST00000359195.3 + 8 2960 c.2650G>C c.(2650-2652)Gac>Cac p.D884H PIK3CG_ENST00000496166.1_Missense_Mutation_p.D884H|PIK3CG_ENST00000440650.2_Missense_Mutation_p.D884H NM_001282427.1|NM_002649.2 NP_001269356.1|NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 884 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GATTGTGAAAGACGCCACGAC 0.478000 38 138 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81112162 81112162 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:81112162C>G ENST00000228644.3 + 2 679 c.527C>G c.(526-528)tCc>tGc p.S176C NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 176 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CCTGTCTGGTCCAGAAAGAGC 0.403000 8 90 0 0 1 0 0 ZNF133 7692 broad.mit.edu 37 20 18297080 18297080 + Nonsense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr20:18297080C>T ENST00000377671.3 + 7 2141 c.1582C>T c.(1582-1584)Cga>Tga p.R528* ZNF133_ENST00000538547.1_Nonsense_Mutation_p.R434*|ZNF133_ENST00000401790.1_Nonsense_Mutation_p.R529*|ZNF133_ENST00000402618.2_Nonsense_Mutation_p.R466*|ZNF133_ENST00000396026.3_Nonsense_Mutation_p.R532*|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000535822.1_Nonsense_Mutation_p.R434*|ZNF133_ENST00000316358.4_Nonsense_Mutation_p.R529* NM_001083330.2|NM_003434.4 NP_001076799.1|NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 529 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 AGAGTGCGGGCGAGGCTTTAG 0.607000 10 36 0 0 1 0 0 CHKA 1119 broad.mit.edu 37 11 67836402 67836402 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:67836402G>T ENST00000265689.4 - 7 898 c.872C>A c.(871-873)tCa>tAa p.S291* CHKA_ENST00000356135.5_Nonsense_Mutation_p.S273* NM_001277.2 NP_001268.2 P35790 CHKA_HUMAN choline kinase alpha 291 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Choline(DB00122) TTCAAGCAATGATCTGAAAAG 0.418000 8 28 5.18039e-06 5.34578e-06 1 1 0 PPP6R1 22870 broad.mit.edu 37 19 55758297 55758297 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:55758297C>T ENST00000412770.2 - 2 741 c.175G>A c.(175-177)Gcc>Acc p.A59T PPP6R1_ENST00000587283.1_Missense_Mutation_p.A59T NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 59 Interaction with PPP6C. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 GTGACCCAGGCCACCATTGCT 0.632000 12 11 0 0 1 0 0 CASQ1 844 broad.mit.edu 37 1 160163635 160163635 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:160163635G>C ENST00000368079.3 + 3 720 c.445G>C c.(445-447)Gat>Cat p.D149H CASQ1_ENST00000368078.3_Missense_Mutation_p.D155H NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 155 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTTTCTGCTTGATGTAAGGAC 0.522000 9 57 0 0 1 0 0 LONP2 83752 broad.mit.edu 37 16 48333579 48333579 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:48333579C>T ENST00000285737.4 + 10 1634 c.1541C>T c.(1540-1542)aCa>aTa p.T514I LONP2_ENST00000535754.1_Missense_Mutation_p.T470I NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 514 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CCAGGTTATACACAGGAGGAG 0.423000 4 42 0 0 1 0 0 FNDC3B 64778 broad.mit.edu 37 3 172052792 172052792 + Missense_Mutation SNP C C T rs149280961 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:172052792C>T ENST00000336824.4 + 15 1799 c.1700C>T c.(1699-1701)aCg>aTg p.T567M FNDC3B_ENST00000416957.1_Missense_Mutation_p.T567M|FNDC3B_ENST00000415807.2_Missense_Mutation_p.T567M NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 567 endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) GTTTGTACGACGAGTCCTGAC 0.463000 35 193 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 872088 872088 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:872088G>A ENST00000312090.6 - 12 2086 c.1936C>T c.(1936-1938)Ctg>Ttg p.L646L MED16_ENST00000325464.1_Silent_p.L646L|MED16_ENST00000395808.3_Silent_p.L646L|MED16_ENST00000589119.1_Silent_p.L646L|MED16_ENST00000269814.4_Intron Q9Y2X0 MED16_HUMAN mediator complex subunit 16 646 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGTCCCGCAGAAAGCTGTGG 0.657000 13 16 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83795788 83795788 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:83795788G>C ENST00000432794.1 - 6 778 c.615C>G c.(613-615)atC>atG p.I205M SEC31A_ENST00000443462.2_Missense_Mutation_p.I200M|SEC31A_ENST00000395310.2_Missense_Mutation_p.I205M|SEC31A_ENST00000505984.1_Missense_Mutation_p.I205M|SEC31A_ENST00000509142.1_Missense_Mutation_p.I205M|SEC31A_ENST00000508502.1_Missense_Mutation_p.I205M|SEC31A_ENST00000448323.1_Missense_Mutation_p.I205M|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000348405.4_Missense_Mutation_p.I205M|SEC31A_ENST00000508479.1_Missense_Mutation_p.I205M|SEC31A_ENST00000326950.5_Missense_Mutation_p.I205M|SEC31A_ENST00000513858.1_Missense_Mutation_p.I205M|SEC31A_ENST00000500777.2_Missense_Mutation_p.I205M|SEC31A_ENST00000311785.7_Missense_Mutation_p.I205M|SEC31A_ENST00000505472.1_Missense_Mutation_p.I205M|SEC31A_ENST00000355196.2_Missense_Mutation_p.I205M O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 205 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 SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) CACTGACTTTGATGATTGGCT 0.413000 10 42 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 608501 608501 + Silent SNP A A G rs144630030 by1000genomes TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:608501A>G ENST00000264555.5 + 14 3173 c.3045A>G c.(3043-3045)ggA>ggG p.G1015G PHRF1_ENST00000533464.1_Silent_p.G1011G|PHRF1_ENST00000413872.2_Silent_p.G1013G|PHRF1_ENST00000416188.2_Silent_p.G1014G NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1015 Arg-rich. RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 GGGAGCACGGACGGACGCGCT 0.667000 10 20 0 0 1 0 0 LZTFL1 54585 broad.mit.edu 37 3 45879475 45879475 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:45879475C>G ENST00000296135.6 - 2 246 c.72G>C c.(70-72)aaG>aaC p.K24N LZTFL1_ENST00000536047.1_Missense_Mutation_p.K7N|LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000539217.1_Intron NM_001276378.1|NM_020347.2 NP_001263307.1|NP_065080.1 Q9NQ48 LZTL1_HUMAN leucine zipper transcription factor-like 1 24 endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 8 BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) TCAAGCCTCTCTTTGAACGAG 0.393000 6 31 0 0 1 0 0 PAX5 5079 broad.mit.edu 37 9 36966699 36966699 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:36966699C>G ENST00000358127.4 - 6 701 c.627G>C c.(625-627)ccG>ccC p.P209P PAX5_ENST00000522003.1_Silent_p.P101P|PAX5_ENST00000414447.1_Silent_p.P166P|PAX5_ENST00000523145.1_Silent_p.P101P|PAX5_ENST00000446742.1_Silent_p.P143P|PAX5_ENST00000520281.1_Silent_p.P166P|PAX5_ENST00000377847.2_Silent_p.P209P|PAX5_ENST00000377853.2_Silent_p.P209P|PAX5_ENST00000523241.1_Silent_p.P209P|PAX5_ENST00000520154.1_Silent_p.P209P|PAX5_ENST00000377852.2_Silent_p.P209P NM_001280554.1|NM_001280556.1|NM_016734.1 NP_001267483.1|NP_001267485.1|NP_057953.1 Q02548 PAX5_HUMAN paired box 5 209 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(41)|p.P209P(1) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) AGTGGCCGTTCGGCACCGGAG 0.562000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 4 18 0 0 1 0 0 AC096579.13 0 broad.mit.edu 37 2 89157152 89157152 + RNA SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:89157152C>T ENST00000452230.1 - 0 39 IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA TTCAACTGCTCATCAGATGGC 0.488000 3 11 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38185150 38185150 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:38185150C>G ENST00000394126.1 - 13 1831 c.1413G>C c.(1411-1413)aaG>aaC p.K471N MED24_ENST00000501516.3_Missense_Mutation_p.K465N|MED24_ENST00000356271.3_Missense_Mutation_p.K433N|MED24_ENST00000394127.2_Missense_Mutation_p.K433N|MED24_ENST00000394128.2_Missense_Mutation_p.K446N O75448 MED24_HUMAN mediator complex subunit 24 446 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) AGTCCAGACTCTTCCCGGACA 0.602000 15 37 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159682278 159682278 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:159682278C>T ENST00000297267.9 + 19 5431 c.5231C>T c.(5230-5232)tCg>tTg p.S1744L FNDC1_ENST00000340366.6_Missense_Mutation_p.S1681L NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1744 Fibronectin type-III 5. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) ATCAGCCCTTCGGTCTCATTT 0.348000 9 38 0 0 1 0 0 CPOX 1371 broad.mit.edu 37 3 98304446 98304446 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:98304446G>C ENST00000264193.2 - 5 1229 c.1011C>G c.(1009-1011)atC>atG p.I337M NM_000097.5 NP_000088.3 P36551 HEM6_HUMAN coproporphyrinogen oxidase 337 mitochondrial intermembrane space coproporphyrinogen oxidase activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 CATCAAAAAAGATACCACCAA 0.478000 7 85 0 0 1 0 0 KRT33B 3884 broad.mit.edu 37 17 39525837 39525837 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:39525837C>T ENST00000251646.3 - 1 215 c.166G>A c.(166-168)Gag>Aag p.E56K NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 56 Head. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) GTCTCCTTCTCGCTGCCATTG 0.632000 17 60 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151495934 151495934 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:151495934C>G ENST00000271636.7 + 6 1298 c.1165C>G c.(1165-1167)Caa>Gaa p.Q389E NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 383 Glu-rich.|Interacts with ZO-2. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AGAGCCATCCCAAGTTGGGCT 0.547000 100 84 0 0 1 0 0 STAT5A 6776 broad.mit.edu 37 17 40456553 40456553 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:40456553G>A ENST00000345506.4 + 12 1905 c.1263G>A c.(1261-1263)ctG>ctA p.L421L STAT5A_ENST00000590949.1_Silent_p.L421L|STAT5A_ENST00000452307.2_Silent_p.L421L|STAT5A_ENST00000588868.1_Silent_p.L421L|STAT5A_ENST00000546010.2_Silent_p.L391L NM_003152.3 NP_003143.2 P42229 STA5A_HUMAN signal transducer and activator of transcription 5A 421 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) TGCAGTCACTGAAGAGGATCA 0.607000 5 28 0 0 1 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117789537 117789537 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:117789537C>G ENST00000528626.1 - 2 111 c.38G>C c.(37-39)aGa>aCa p.R13T TMPRSS13_ENST00000524993.1_Missense_Mutation_p.R13T|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.R13T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.R13T|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.R13T NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 13 12 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) TGAAGGTGTTCTTGCTGGAGA 0.597000 3 30 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432516 104432516 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:104432516G>C ENST00000361820.3 - 3 2778 c.2178C>G c.(2176-2178)ctC>ctG p.L726L NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 726 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TGCCAAACAAGAGGGCATAAC 0.428000 22 53 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123525968 123525968 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:123525968C>G ENST00000422452.2 - 28 5685 c.5622G>C c.(5620-5622)caG>caC p.Q1874H STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.Q1867H NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTTTCCCACTCTGGTCATATT 0.363000 3 68 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68995622 68995622 + Splice_Site SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:68995622G>C ENST00000288368.4 + 18 2303 c.2026G>C c.(2026-2028)Gag>Cag p.E676Q PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 676 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AAAGCCAAGAGAGTAAGTTGT 0.318000 11 30 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583213 7583213 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7583213C>T ENST00000379802.3 + 24 6059 c.5718C>T c.(5716-5718)atC>atT p.I1906I DSP_ENST00000418664.2_Silent_p.I1307I NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1906 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAGCAGAGATCAAGAGAATTG 0.468000 8 40 0 0 1 0 0 ZNF607 84775 broad.mit.edu 37 19 38190635 38190635 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:38190635G>C ENST00000355202.4 - 5 992 c.397C>G c.(397-399)Caa>Gaa p.Q133E ZNF607_ENST00000395835.3_Missense_Mutation_p.Q132E|CTD-2528L19.4_ENST00000586606.2_Intron NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) TGAATTGTTTGATGTACCATG 0.368000 19 68 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161322788 161322788 + Missense_Mutation SNP T T C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:161322788T>C ENST00000428797.2 + 10 1328 c.973T>C c.(973-975)Ttc>Ctc p.F325L GABRA1_ENST00000023897.6_Missense_Mutation_p.F325L|GABRA1_ENST00000437025.2_Missense_Mutation_p.F325L|GABRA1_ENST00000444819.1_Missense_Mutation_p.F325L|GABRA1_ENST00000420560.1_Missense_Mutation_p.F325L|GABRA1_ENST00000393943.4_Missense_Mutation_p.F325L NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 325 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TGCCTTTGTGTTCTCAGCTCT 0.433000 11 49 0 0 1 0 0 APPBP2 10513 broad.mit.edu 37 17 58524943 58524943 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:58524943C>T ENST00000083182.3 - 13 2044 c.1757G>A c.(1756-1758)tGa>tAa p.*586* NM_001282476.1|NM_006380.2 NP_001269405.1|NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 0 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding p.*586*(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) GGTCCTCCCTCAGCAGCTCGG 0.493000 13 63 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185956617 185956617 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:185956617C>G ENST00000271588.4 + 20 3218 c.2989C>G c.(2989-2991)Cca>Gca p.P997A HMCN1_ENST00000367492.2_Missense_Mutation_p.P997A|HMCN1_ENST00000485744.1_3'UTR NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 997 Ig-like C2-type 7. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGAAGGCATTCCAGTAACTTT 0.423000 13 103 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121676718 121676718 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:121676718C>T ENST00000393386.2 + 18 5760 c.5349C>T c.(5347-5349)atC>atT p.I1783I PTPRZ1_ENST00000449182.1_Silent_p.I916I NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1783 Tyrosine-protein phosphatase 1. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 CTGATTATATCAATGCCAATT 0.299000 10 27 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132175666 132175666 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:132175666C>G ENST00000260818.6 + 12 1587 c.1339C>G c.(1339-1341)Cag>Gag p.Q447E DNAJC13_ENST00000486798.1_3'UTR NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 447 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 GGCTTTCACTCAGCTTCCAAA 0.438000 8 44 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100105692 100105692 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:100105692G>C ENST00000375202.2 + 33 3829 c.2477G>C c.(2476-2478)gGa>gCa p.G826A CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.G826A|CCDC180_ENST00000411667.2_Missense_Mutation_p.G823A|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.G965A coiled-coil domain containing 180 ATCTCCAGTGGAAACACTTAT 0.443000 13 35 0 0 1 0 0 NUCB1 4924 broad.mit.edu 37 19 49422541 49422541 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:49422541G>A ENST00000405315.4 + 10 1334 c.1000G>A c.(1000-1002)Gag>Aag p.E334K NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.E334K|NUCB1_ENST00000263273.5_Missense_Mutation_p.E334K NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 334 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) GGAGGGCTGGGAGGTGAGAAC 0.587000 8 13 0 0 1 0 0 NTAN1 123803 broad.mit.edu 37 16 15131904 15131904 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:15131904G>C ENST00000287706.3 - 10 1009 c.917C>G c.(916-918)tCt>tGt p.S306C PDXDC1_ENST00000535621.2_Intron NM_001270766.1|NM_173474.3 NP_001257695.1|NP_775745.1 Q96AB6 NTAN1_HUMAN N-terminal asparagine amidase 306 cytoplasm endometrium(1)|large_intestine(4)|lung(3) 8 TCCTGGAGAAGAGATCTTTTC 0.413000 3 69 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123525955 123525955 + Missense_Mutation SNP T T G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:123525955T>G ENST00000422452.2 - 28 5698 c.5635A>C c.(5635-5637)Att>Ctt p.I1879L STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.I1872L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GTTCTTGAAATAATTTTCCCA 0.363000 4 71 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072396 134072396 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:134072396G>A ENST00000264360.5 + 1 1927 c.1101G>A c.(1099-1101)gtG>gtA p.V367V NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) AGGAAGCGGTGAGTGAGGGCG 0.632000 14 48 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956185 18956185 + Silent SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:18956185G>T ENST00000302797.3 - 1 371 c.147C>A c.(145-147)ctC>ctA p.L49L MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 49 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCAGGAGCCAGAGCACAACTG 0.567000 24 70 1.42536e-11 1.51937e-11 1 1 0 ANKRD36B 57730 broad.mit.edu 37 2 98175320 98175320 + RNA SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:98175320C>G ENST00000443455.1 - 0 1019 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B CAGAATCTTTCTCGTCACTTG 0.328000 3 34 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94747019 94747019 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:94747019G>A ENST00000399300.2 - 3 1833 c.1620C>T c.(1618-1620)ttC>ttT p.F540F RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.F540F NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 540 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGGGATGCTTGAAGTTATCCA 0.493000 9 63 0 0 1 0 0 DCTN3 11258 broad.mit.edu 37 9 34616067 34616067 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:34616067C>T ENST00000378913.2 - 4 328 c.312G>A c.(310-312)gtG>gtA p.V104V DCTN3_ENST00000341694.2_Silent_p.V104V|DCTN3_ENST00000378916.4_Intron|DCTN3_ENST00000447983.2_3'UTR|DCTN3_ENST00000477738.2_Silent_p.V104V|DCTN3_ENST00000259632.7_Silent_p.V104V|DCTN3_ENST00000479399.1_5'UTR O75935 DCTN3_HUMAN dynactin 3 (p22) 104 cytokinesis|G2/M transition of mitotic cell cycle|mitosis centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle protein binding|structural molecule activity large_intestine(1)|skin(1) 2 all_epithelial(49;0.0863) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.0388) CCAAGGCATTCACCTGCTCCA 0.498000 9 27 0 0 1 0 0 THUMPD3 25917 broad.mit.edu 37 3 9426307 9426307 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:9426307C>G ENST00000345094.3 + 10 1793 c.1459C>G c.(1459-1461)Caa>Gaa p.Q487E THUMPD3_ENST00000515662.2_Missense_Mutation_p.Q487E|THUMPD3_ENST00000452837.2_Missense_Mutation_p.Q487E|SETD5-AS1_ENST00000468186.1_RNA NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 487 methyltransferase activity|protein binding|RNA binding NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) ACGTACACCTCAAGCTTTTGT 0.463000 26 89 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109270677 109270677 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:109270677C>T ENST00000370017.3 + 7 1636 c.1359C>T c.(1357-1359)ttC>ttT p.F453F FNDC7_ENST00000271311.2_Silent_p.F454F NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 454 Fibronectin type-III 5. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CTCCCCAGTTCATAACCACAG 0.478000 26 81 0 0 1 0 0 UBA6 55236 broad.mit.edu 37 4 68511724 68511724 + Missense_Mutation SNP A A T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:68511724A>T ENST00000322244.5 - 16 1386 c.1327T>A c.(1327-1329)Tat>Aat p.Y443N NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 AAGGCATCATATCTATCTCCT 0.279000 21 49 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42819223 42819223 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:42819223G>C ENST00000598766.1 + 6 571 c.571G>C c.(571-573)Gag>Cag p.E191Q TMEM145_ENST00000301204.3_Missense_Mutation_p.E167Q Q8NBT3 TM145_HUMAN transmembrane protein 145 167 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) CTCCGCTGATGAGTTTGGTGA 0.567000 9 36 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58141727 58141727 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:58141727C>T ENST00000295956.4 + 41 6978 c.6813C>T c.(6811-6813)atC>atT p.I2271I FLNB_ENST00000493452.1_Silent_p.I2078I|FLNB_ENST00000358537.3_Silent_p.I2247I|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Silent_p.I2230I|FLNB_ENST00000429972.2_Silent_p.I2260I|FLNB_ENST00000419752.2_Silent_p.I2091I|FLNB_ENST00000490882.1_Silent_p.I2302I NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2271 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ATGAGCACATCCCGGAAAGCC 0.547000 10 44 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64634013 64634013 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:64634013C>T ENST00000357395.3 + 92 16967 c.5823C>T c.(5821-5823)ctC>ctT p.L1941L SYNE2_ENST00000394768.2_Silent_p.L1941L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Silent_p.L5556L|SYNE2_ENST00000554584.1_Silent_p.L5431L|SYNE2_ENST00000344113.4_Silent_p.L5556L|SYNE2_ENST00000555002.1_Silent_p.L2190L Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5556 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding p.L5556L(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAGTGAGCCTCAAGCTCCCAC 0.463000 6 38 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62286885 62286885 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:62286885C>T ENST00000378024.4 - 5 15278 c.15004G>A c.(15004-15006)Gag>Aag p.E5002K AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5002 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGCTCTGCCTCAGGAACAGTG 0.413000 18 81 0 0 1 0 0 CERCAM 51148 broad.mit.edu 37 9 131198051 131198051 + Missense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:131198051C>A ENST00000372842.1 + 13 4565 c.1421C>A c.(1420-1422)tCc>tAc p.S474Y CERCAM_ENST00000372838.4_Missense_Mutation_p.S552Y Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 552 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 ACGGAGACATCCTCTCCATGG 0.682000 3 14 6.4e-05 6.55706e-05 1 1 0 KLHL41 10324 broad.mit.edu 37 2 170366589 170366589 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:170366589G>T ENST00000284669.1 + 1 378 c.301G>T c.(301-303)Gga>Tga p.G101* RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TCTCAATGACGGAAATGTGCA 0.413000 5 107 1.23904e-05 1.27205e-05 1 1 0 FNBP4 23360 broad.mit.edu 37 11 47772479 47772479 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:47772479C>T ENST00000263773.5 - 6 907 c.895G>A c.(895-897)Gaa>Aaa p.E299K FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 299 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 TTTTTAACTTCTCGCTTGGCT 0.368000 20 50 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10800269 10800269 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:10800269G>A ENST00000361367.2 + 25 3565 c.3139G>A c.(3139-3141)Gaa>Aaa p.E1047K NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 1047 Ser-rich. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AGACGAGGACGAACAACGAAA 0.532000 3 19 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170097642 170097642 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:170097642C>T ENST00000263816.3 - 25 4186 c.3901G>A c.(3901-3903)Gat>Aat p.D1301N LRP2_ENST00000443831.1_Missense_Mutation_p.D1164N NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1301 LDL-receptor class A 14. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCCTTCTCATCACTCATATCC 0.512000 7 41 0 0 1 0 0 VPS8 23355 broad.mit.edu 37 3 184633212 184633212 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:184633212C>T ENST00000437079.3 + 28 2503 c.2332C>T c.(2332-2334)Cgg>Tgg p.R778W VPS8_ENST00000436792.2_Missense_Mutation_p.R776W|VPS8_ENST00000446204.2_Missense_Mutation_p.R686W|VPS8_ENST00000287546.4_Missense_Mutation_p.R778W NM_001009921.2 NP_001009921.1 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 778 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TCCTTACATTCGGACTTTGCT 0.348000 5 31 0 0 1 0 0 ZNF738 148203 broad.mit.edu 37 19 21558738 21558738 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:21558738G>A ENST00000311015.3 + 4 502 c.291G>A c.(289-291)aaG>aaA p.K97K ZNF738_ENST00000597810.1_Silent_p.K97K|ZNF738_ENST00000380870.4_Silent_p.K97K kidney(1)|lung(1) 2 GGAATATGAAGAGACACAGTA 0.383000 19 43 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33486491 33486491 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:33486491G>A ENST00000268876.5 + 8 1003 c.906G>A c.(904-906)ctG>ctA p.L302L UNC45B_ENST00000433649.1_Silent_p.L302L|UNC45B_ENST00000378449.1_Silent_p.L302L|UNC45B_ENST00000591048.1_Silent_p.L302L|UNC45B_ENST00000394570.2_Silent_p.L302L NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 302 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) CGCTGAACCTGCTCAATAAGA 0.527000 13 90 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124739840 124739840 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:124739840G>A ENST00000311127.4 - 4 1115 c.1048C>T c.(1048-1050)Ctg>Ttg p.L350L NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 350 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 ACAGGTCCCAGACTGACCGTC 0.537000 6 27 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157660198 157660198 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:157660198C>T ENST00000368184.3 - 9 1828 c.1537G>A c.(1537-1539)Gag>Aag p.E513K FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.E513K NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 513 Ig-like C2-type 6. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GTGTCATCCTCGTGATAAAAC 0.582000 4 69 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 39966823 39966823 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr22:39966823C>T ENST00000336649.4 + 1 66 c.66C>T c.(64-66)acC>acT p.T22T CACNA1I_ENST00000402142.3_Silent_p.T22T|CACNA1I_ENST00000407673.1_Silent_p.T22T|CACNA1I_ENST00000400164.3_Silent_p.T22T|CACNA1I_ENST00000401624.1_Silent_p.T22T|CACNA1I_ENST00000404898.1_Silent_p.T22T Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 22 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CAGGAGTCACCACGGAGCAGC 0.692000 4 11 0 0 1 0 0 SNX32 254122 broad.mit.edu 37 11 65617651 65617651 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:65617651G>C ENST00000308342.6 + 4 708 c.283G>C c.(283-285)Gag>Cag p.E95Q NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 95 PX. cell communication|protein transport phosphatidylinositol binding endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) GCCAGACTTTGAGGCTTCGAG 0.602000 10 45 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94747639 94747639 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:94747639G>C ENST00000399300.2 - 3 1213 c.1000C>G c.(1000-1002)Ctg>Gtg p.L334V RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.L334V NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 334 RRM 2. nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TAGTCTTTCAGAGTCTTGAAC 0.313000 6 59 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327067 57327067 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:57327067C>T ENST00000326441.9 - 10 3106 c.2743G>A c.(2743-2745)Gag>Aag p.E915K ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E791K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E915K|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E789K NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 915 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTCTTAAACTCACCAGATCCC 0.448000 12 69 0 0 1 0 0 IGHV3-30 28439 broad.mit.edu 37 14 106791180 106791180 + RNA SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:106791180G>C ENST00000390613.2 - 0 255 CTTGCCTGGAGCCTGGCGGAC 0.562000 7 365 0 0 1 0 0 ZNF833P 401898 broad.mit.edu 37 19 11759247 11759247 + RNA SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:11759247G>C ENST00000344893.3 + 0 366 NR_028594.1 endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 CGTCCCAGAAGAAACTCTACA 0.453000 11 58 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129389575 129389575 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:129389575C>T ENST00000393238.3 - 4 1449 c.1109G>A c.(1108-1110)aGa>aAa p.R370K TMCC1_ENST00000329333.5_Missense_Mutation_p.R191K|TMCC1_ENST00000426664.2_Missense_Mutation_p.R256K|TMCC1_ENST00000432054.2_Missense_Mutation_p.R46K NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 370 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GGCAATCTCTCTGGGCTTTGA 0.527000 5 39 0 0 1 0 0 SERPINC1 462 broad.mit.edu 37 1 173886363 173886363 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:173886363C>G ENST00000367698.3 - 1 153 c.35G>C c.(34-36)gGa>gCa p.G12A SERPINC1_ENST00000494024.1_5'UTR NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 12 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) TTACCTTTTTCCAGAGGTTAC 0.502000 3 11 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 98865514 98865514 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:98865514G>A ENST00000376586.2 + 2 354 c.18G>A c.(16-18)caG>caA p.Q6Q FARP1_ENST00000376581.5_Silent_p.Q6Q|FARP1_ENST00000319562.6_Silent_p.Q6Q|FARP1_ENST00000595437.1_Silent_p.Q6Q Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 6 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AAATAGAGCAGAGGCCGACCC 0.527000 14 75 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 49051505 49051505 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:49051505G>C ENST00000267163.4 + 26 2816 c.2678G>C c.(2677-2679)gGa>gCa p.G893A RB1_ENST00000484879.1_3'UTR NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 893 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CATCTCCCAGGAGAGTCCAAA 0.323000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 4 8 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7584626 7584626 + Silent SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7584626C>A ENST00000379802.3 + 24 7472 c.7131C>A c.(7129-7131)atC>atA p.I2377I DSP_ENST00000418664.2_Silent_p.I1778I NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2377 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CCGGGGGGATCATTGACCCAA 0.453000 4 34 0.150653 0.150955 1 1 0 SHH 6469 broad.mit.edu 37 7 155596208 155596208 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:155596208C>G ENST00000297261.2 - 3 925 c.775G>C c.(775-777)Gag>Cag p.E259Q NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog 259 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCGCGCGGCTCCCGCGTCTCG 0.711000 5 7 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777731 43777731 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:43777731C>T ENST00000389420.3 - 30 4501 c.4502G>A c.(4501-4503)aGa>aAa p.R1501K NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1501 TSP type-1 12. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACCTTTCAGTCTGCAGTATAC 0.463000 9 33 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13603177 13603177 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:13603177C>T ENST00000040738.5 - 10 5482 c.5347G>A c.(5347-5349)Gat>Aat p.D1783N NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1783 DNA binding TCTGTACCATCATTCACAGAA 0.532000 30 155 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154072563 154072563 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:154072563G>C ENST00000368559.3 - 14 1947 c.1876C>G c.(1876-1878)Ctt>Gtt p.L626V NUP210L_ENST00000271854.3_Missense_Mutation_p.L626V NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 626 integral to membrane p.L626V(1) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GTATGGCCAAGAGATTTAGCT 0.428000 17 67 0 0 1 0 0 SUMO1 7341 broad.mit.edu 37 2 203071986 203071986 + Nonsense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:203071986G>C ENST00000392246.2 - 5 452 c.296C>G c.(295-297)tCa>tGa p.S99* SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000409712.1_Nonsense_Mutation_p.S75*|SUMO1_ENST00000409205.1_Nonsense_Mutation_p.S60*|SUMO1_ENST00000409368.1_Nonsense_Mutation_p.S144*|SUMO1_ENST00000392244.3_Nonsense_Mutation_p.S74*|SUMO1_ENST00000392245.1_Nonsense_Mutation_p.S99*|SUMO1_ENST00000409181.1_3'UTR|SUMO1_ENST00000409498.2_Nonsense_Mutation_p.S60* NM_003352.4 NP_003343.1 P63165 SUMO1_HUMAN small ubiquitin-like modifier 1 99 DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization cytoplasm|nuclear membrane|nuclear pore|nuclear speck ubiquitin protein ligase binding CTAAACTGTTGAATGACCCCC 0.308000 39 149 0 0 1 0 0 ARRB1 408 broad.mit.edu 37 11 74983986 74983986 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:74983986G>C ENST00000420843.2 - 12 1048 c.951C>G c.(949-951)atC>atG p.I317M ARRB1_ENST00000360025.3_Missense_Mutation_p.I317M|ARRB1_ENST00000393505.4_Missense_Mutation_p.I317M NM_004041.4 NP_004032.2 P49407 ARRB1_HUMAN arrestin, beta 1 317 G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(4)|large_intestine(2)|lung(4)|prostate(1) 11 AGGAAACAATGATCCCCAGGA 0.612000 5 19 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151773060 151773060 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:151773060G>C ENST00000535741.1 - 23 4275 c.3802C>G c.(3802-3804)Caa>Gaa p.Q1268E LRBA_ENST00000357115.3_Missense_Mutation_p.Q1268E|LRBA_ENST00000510413.1_Missense_Mutation_p.Q1268E|LRBA_ENST00000507224.1_Missense_Mutation_p.Q1268E P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1268 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CGATGAGGTTGAGGTGCTTCC 0.393000 7 12 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56494962 56494962 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:56494962G>A ENST00000267101.3 + 27 3759 c.3319G>A c.(3319-3321)Gag>Aag p.E1107K ERBB3_ENST00000450146.2_Missense_Mutation_p.E464K|ERBB3_ENST00000549832.1_Missense_Mutation_p.E227K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E348K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1048K NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1107 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CTCTGAGGCTGAGCTCCAGGA 0.617000 3 17 0 0 1 0 0 GALK1 2584 broad.mit.edu 37 17 73759142 73759142 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:73759142G>A ENST00000588479.1 - 4 1138 c.564C>T c.(562-564)ttC>ttT p.F188F GALK1_ENST00000225614.2_Silent_p.F188F|GALK1_ENST00000437911.1_Silent_p.F218F P51570 GALK1_HUMAN galactokinase 1 188 galactose catabolic process cytosol ATP binding|galactokinase activity|galactose binding endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 5 all_cancers(13;1.5e-07) all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TAAGTGAGATGAACTGGTCCA 0.632000 3 28 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81588617 81588617 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:81588617C>G ENST00000356860.3 - 38 3471 c.3133G>C c.(3133-3135)Gat>Cat p.D1045H CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D257H|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D1057H NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 1057 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AAGCAGACATCAGGCCCTTTT 0.373000 5 44 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94057038 94057038 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:94057038C>T ENST00000297268.6 + 49 3838 c.3367C>T c.(3367-3369)Cgc>Tgc p.R1123C NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1123 Missing (in Ref. 17; CAA23761). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGACCAGCCTCGCTCAGCACC 0.552000 HNSCC(75;0.22) 6 31 0 0 1 0 0 SRSF4 6429 broad.mit.edu 37 1 29475690 29475690 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:29475690C>G ENST00000546138.1 - 4 557 c.412G>C c.(412-414)Gag>Cag p.E138Q SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000373795.4_Silent_p.R239R Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 0 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 Tgctccggctccgactctggc 0.592000 7 75 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93489418 93489418 + Nonsense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:93489418C>G ENST00000394196.4 + 12 2417 c.1349C>G c.(1348-1350)tCa>tGa p.S450* CHD2_ENST00000536619.1_Nonsense_Mutation_p.S463*|CHD2_ENST00000420239.2_Nonsense_Mutation_p.S450*|CHD2_ENST00000557381.1_Nonsense_Mutation_p.S450* NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 450 Chromo 2. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AGGAACAACTCAAAAACCATC 0.428000 14 40 0 0 1 0 0 FAM186B 84070 broad.mit.edu 37 12 49994493 49994493 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:49994493C>T ENST00000544141.1 - 4 1259 c.660G>A c.(658-660)atG>atA p.M220I FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000257894.2_Missense_Mutation_p.M310I|PRPF40B_ENST00000508736.1_3'UTR Q8IYM0 F186B_HUMAN family with sequence similarity 186, member B 310 protein complex breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AGGCCTGCTTCATCAGGAGAA 0.542000 26 86 0 0 1 0 0 EXTL1 2134 broad.mit.edu 37 1 26357081 26357081 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:26357081C>G ENST00000374280.3 + 4 1963 c.1096C>G c.(1096-1098)Ctg>Gtg p.L366V EXTL1_ENST00000484339.1_3'UTR NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 366 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CCATACCACTCTGGAGGTGAG 0.582000 6 33 0 0 1 0 0 TRAV14DV4 28669 broad.mit.edu 37 14 22392735 22392735 + RNA SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:22392735G>A ENST00000390440.2 + 0 333 GCTACTCATTGAATTTCCAGA 0.458000 17 49 0 0 1 0 0 NCEH1 57552 broad.mit.edu 37 3 172428787 172428787 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:172428787C>G ENST00000538775.1 - 1 221 c.84G>C c.(82-84)ccG>ccC p.P28P NCEH1_ENST00000475381.1_5'UTR|NCEH1_ENST00000273512.3_Silent_p.P28P|NCEH1_ENST00000543711.1_5'UTR NM_001146276.1 NP_001139748.1 Q6PIU2 NCEH1_HUMAN neutral cholesterol ester hydrolase 1 0 lipid catabolic process endoplasmic reticulum|integral to membrane|microsome carboxylesterase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 TGCCCTGGCTCGGCTCGCCAG 0.637000 OREG0015927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 52 0 0 1 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948561 2948561 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:2948561G>C ENST00000380520.1 - 6 3096 c.1102C>G c.(1102-1104)Ctc>Gtc p.L368V SERPINB6_ENST00000380546.3_Missense_Mutation_p.L368V|SERPINB6_ENST00000335686.5_Missense_Mutation_p.L368V|SERPINB6_ENST00000380539.1_Missense_Mutation_p.L368V|SERPINB6_ENST00000380529.1_Missense_Mutation_p.L368V|SERPINB6_ENST00000380524.1_Missense_Mutation_p.L368V P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 368 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) CCGCAGAAGAGAATCCCGTTG 0.597000 6 20 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26114739 26114739 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:26114739G>A ENST00000313735.6 - 5 665 c.432C>T c.(430-432)atC>atT p.I144I NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 144 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TGACAAATTCGATAGCTTGAG 0.532000 20 65 0 0 1 0 0 DUSP21 63904 broad.mit.edu 37 X 44703471 44703471 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:44703471C>T ENST00000339042.4 + 1 223 c.93C>T c.(91-93)ctC>ctT p.L31L NM_022076.3 NP_071359.3 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 31 Tyrosine-protein phosphatase. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3) 19 GCTTGTTTCTCAGCAATGGTG 0.532000 13 12 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191850351 191850351 + Silent SNP C C T rs73979321 byFrequency TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:191850351C>T ENST00000361099.3 - 15 1644 c.1257G>A c.(1255-1257)acG>acA p.T419T STAT1_ENST00000392323.2_Silent_p.T421T|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Silent_p.T419T|STAT1_ENST00000409465.1_Silent_p.T419T NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 419 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) TCACCTCATTCGTTCTGGTGC 0.433000 7 22 0 0 1 0 0 HIPK3 10114 broad.mit.edu 37 11 33358682 33358682 + Missense_Mutation SNP A A G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:33358682A>G ENST00000303296.4 + 4 1588 c.1283A>G c.(1282-1284)aAa>aGa p.K428R HIPK3_ENST00000456517.1_Missense_Mutation_p.K428R|HIPK3_ENST00000525975.1_Missense_Mutation_p.K428R|HIPK3_ENST00000534262.1_3'UTR|HIPK3_ENST00000379016.3_Missense_Mutation_p.K428R NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 428 Protein kinase. anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 GTGGGTACTAAATCCACAAGA 0.299000 10 38 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8384692 8384692 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:8384692C>T ENST00000360416.3 - 38 5350 c.5212G>A c.(5212-5214)Gag>Aag p.E1738K MYH10_ENST00000269243.4_Missense_Mutation_p.E1707K|MYH10_ENST00000379980.4_Missense_Mutation_p.E1723K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1728K NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1707 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity p.E1707K(1) breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CTCTCCTGCTCGGCGTGTCGG 0.607000 9 23 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81063878 81063878 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:81063878C>T ENST00000334512.5 + 19 2804 c.2232C>T c.(2230-2232)atC>atT p.I744I NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 744 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AGTGCCCCATCACATTCCGGC 0.612000 6 28 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28478819 28478819 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:28478819C>T ENST00000261609.7 - 28 4450 c.4342G>A c.(4342-4344)Gaa>Aaa p.E1448K NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 1448 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCTAAATCTTCATGTTTTAAG 0.463000 10 57 0 0 1 0 0 TRUB1 142940 broad.mit.edu 37 10 116698044 116698044 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:116698044C>T ENST00000298746.3 + 1 93 c.32C>T c.(31-33)tCg>tTg p.S11L NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 11 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) GTGGTGTCTTCGCCGTCTTTG 0.582000 14 13 0 0 1 0 0 KLHL8 57563 broad.mit.edu 37 4 88106495 88106495 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:88106495C>T ENST00000273963.5 - 3 1014 c.673G>A c.(673-675)Gaa>Aaa p.E225K KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.E225K|KLHL8_ENST00000498875.2_Missense_Mutation_p.E149K NM_020803.3 NP_065854.3 Q9P2G9 KLHL8_HUMAN kelch-like family member 8 225 breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) TTTTCATTTTCAATATTTAGA 0.433000 18 66 0 0 1 0 0 CPA2 1358 broad.mit.edu 37 7 129929454 129929454 + Nonsense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:129929454C>G ENST00000222481.4 + 11 1182 c.1127C>G c.(1126-1128)tCa>tGa p.S376* NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 376 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) ATCAAGTACTCATTTGCCTTT 0.517000 10 59 0 0 1 0 0 PML 5371 broad.mit.edu 37 15 74328369 74328369 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:74328369C>G ENST00000395132.2 + 5 1372 c.1276C>G c.(1276-1278)Ctt>Gtt p.L426V PML_ENST00000435786.2_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000268059.6_3'UTR NM_033247.2 NP_150250.2 P29590 PML_HUMAN promyelocytic leukemia 425 cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 agcccatgctcttacaggccc 0.567000 T """RARA, PAX5""" """APL, ALL""" 34 107 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75519926 75519926 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:75519926C>G ENST00000339365.2 + 6 794 c.632C>G c.(631-633)tCc>tGc p.S211C SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.S69C|SEC24C_ENST00000546025.1_Missense_Mutation_p.S69C|SEC24C_ENST00000345254.4_Missense_Mutation_p.S211C NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 211 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TCACAGGCCTCCAGCTTCACA 0.637000 3 77 0 0 1 0 0 ZNF302 55900 broad.mit.edu 37 19 35175908 35175908 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:35175908C>T ENST00000505242.1 + 5 1460 c.966C>T c.(964-966)ttC>ttT p.F322F ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000423823.2_Silent_p.F322F|ZNF302_ENST00000457781.2_Silent_p.F322F|ZNF302_ENST00000446502.2_Silent_p.F366F Q9NR11 ZN302_HUMAN zinc finger protein 302 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GAAAGGCCTTCATTCATAGTT 0.423000 9 27 0 0 1 0 0 UPP2 151531 broad.mit.edu 37 2 158978038 158978038 + Missense_Mutation SNP A A T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:158978038A>T ENST00000605860.1 + 8 789 c.743A>T c.(742-744)gAa>gTa p.E248V UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.E191V|UPP2_ENST00000409859.4_Missense_Mutation_p.E248V O95045 UPP2_HUMAN uridine phosphorylase 2 191 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 CTGGACAAAGAACTGTCTGAA 0.418000 24 66 0 0 1 0 0 GREM2 64388 broad.mit.edu 37 1 240656296 240656296 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:240656296C>T ENST00000318160.4 - 2 746 c.480G>A c.(478-480)gtG>gtA p.V160V NM_022469.3 NP_071914.3 Q9H772 GREM2_HUMAN gremlin 2, DAN family BMP antagonist 160 CTCK. BMP signaling pathway extracellular space cytokine activity endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 10 all_cancers(173;0.0196) OV - Ovarian serous cystadenocarcinoma(106;0.0123) CGCTCAGGTTCACGGACATGC 0.706000 10 39 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77896442 77896442 + Missense_Mutation SNP G G A rs145603867 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:77896442G>A ENST00000262198.4 + 4 3601 c.3146G>A c.(3145-3147)cGt>cAt p.R1049H NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 1049 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) TATGAAGGCCGTTCTTATGAA 0.353000 7 30 0 0 1 0 0 ZNF282 8427 broad.mit.edu 37 7 148921623 148921623 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:148921623G>A ENST00000262085.3 + 8 2005 c.1900G>A c.(1900-1902)Gag>Aag p.E634K ZNF282_ENST00000479907.1_3'UTR NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 634 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CACGTGCGGCGAGTGCGGCAA 0.692000 11 23 0 0 1 0 0 ATXN7 6314 broad.mit.edu 37 3 63976462 63976462 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:63976462G>C ENST00000398590.3 + 11 2162 c.1609G>C c.(1609-1611)Gac>Cac p.D537H ATXN7_ENST00000487717.1_Missense_Mutation_p.D537H|ATXN7_ENST00000538065.1_Missense_Mutation_p.D537H|ATXN7_ENST00000295900.6_Missense_Mutation_p.D537H|ATXN7_ENST00000484332.1_Missense_Mutation_p.D392H NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 537 cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) TTACGTGTTTGACTCCAGGTG 0.532000 13 44 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187628101 187628101 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:187628101G>A ENST00000441802.2 - 2 3090 c.2881C>T c.(2881-2883)Cag>Tag p.Q961* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 961 Cadherin 8. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TATCTCACCTGACCAGACTGA 0.473000 HNSCC(5;0.00058) 11 73 0 0 1 0 0 B3GNT7 93010 broad.mit.edu 37 2 232262625 232262625 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:232262625G>A ENST00000287590.5 + 2 456 c.195G>A c.(193-195)ccG>ccA p.P65P B3GNT7_ENST00000479618.1_3'UTR NM_145236.2 NP_660279.1 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 65 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity p.P65P(1) endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) GGAAGAACCCGAAAGATGTGG 0.607000 5 20 0 0 1 0 0 BEST4 266675 broad.mit.edu 37 1 45250955 45250955 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:45250955G>C ENST00000372207.3 - 6 736 c.737C>G c.(736-738)tCt>tGt p.S246C NM_153274.2 NP_695006.1 Q8NFU0 BEST4_HUMAN bestrophin 4 246 chloride channel complex|plasma membrane chloride channel activity large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) GGCAAAGAAAGAGTAGACGGC 0.597000 4 14 0 0 1 0 0 AGA 175 broad.mit.edu 37 4 178363459 178363459 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:178363459G>C ENST00000264595.2 - 1 198 c.71C>G c.(70-72)tCc>tGc p.S24C AGA_ENST00000506853.1_5'UTR NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 24 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) CAGAGGGCTGGAGCAGCGCAC 0.647000 6 26 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62238074 62238074 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:62238074G>C ENST00000261517.5 - 45 5061 c.4988C>G c.(4987-4989)tCt>tGt p.S1663C VPS13C_ENST00000249837.3_Missense_Mutation_p.S1620C|VPS13C_ENST00000395898.3_Missense_Mutation_p.S1620C|VPS13C_ENST00000395896.4_Missense_Mutation_p.S1663C NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1663 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TCCCAAAATAGAGACAGCCTA 0.363000 17 71 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110897215 110897215 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:110897215C>G ENST00000265171.5 + 13 2322 c.1877C>G c.(1876-1878)tCt>tGt p.S626C EGF_ENST00000509793.1_Missense_Mutation_p.S584C|EGF_ENST00000503392.1_Missense_Mutation_p.S626C NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 626 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) ATTGAAAGTTCTTCCCTCCAA 0.398000 16 78 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170380672 170380672 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:170380672G>T ENST00000523189.1 + 13 1704 c.1540G>T c.(1540-1542)Gag>Tag p.E514* NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 514 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGTACAGATGAGCATGATGC 0.328000 T TRD@ ALL 4 38 0.000602214 0.000613231 1 1 0 KCTD20 222658 broad.mit.edu 37 6 36438031 36438031 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:36438031G>A ENST00000373731.2 + 2 548 c.157G>A c.(157-159)Gaa>Aaa p.E53K KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000536244.1_5'UTR|KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000449081.2_Missense_Mutation_p.E53K NM_173562.3 NP_775833.2 Q7Z5Y7 KCD20_HUMAN potassium channel tetramerization domain containing 20 53 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1) 15 TCCCAGGAATGAAGGTACAGT 0.393000 6 51 0 0 1 0 0 TMEM65 157378 broad.mit.edu 37 8 125332377 125332377 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:125332377G>C ENST00000297632.6 - 6 1105 c.571C>G c.(571-573)Ctc>Gtc p.L191V NM_194291.2 NP_919267.2 Q6PI78 TMM65_HUMAN transmembrane protein 65 191 integral to membrane cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 6 Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TTTGGTGTGAGATCAGGAATT 0.388000 17 55 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79064149 79064149 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:79064149G>C ENST00000388820.4 - 15 2364 c.2154C>G c.(2152-2154)atC>atG p.I718M ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 718 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CGCCCGCTGGGATCAGCCCCA 0.612000 3 19 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585036 7585036 + Missense_Mutation SNP C C G rs144377593 by1000genomes TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7585036C>G ENST00000379802.3 + 24 7882 c.7541C>G c.(7540-7542)tCc>tGc p.S2514C DSP_ENST00000418664.2_Missense_Mutation_p.S1915C NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2514 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCAGATGGCTCCACCAGGGTG 0.448000 19 52 0 0 1 0 0 FCHO2 115548 broad.mit.edu 37 5 72359714 72359714 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:72359714G>A ENST00000430046.2 + 18 1508 c.1392G>A c.(1390-1392)ccG>ccA p.P464P FCHO2_ENST00000512348.1_Silent_p.P431P|FCHO2_ENST00000341845.6_Silent_p.P464P NM_001146032.1|NM_138782.2 NP_001139504.1|NP_620137.2 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 464 Ser-rich. cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 17 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) TCCCACCTCCGAGGCCTGCTT 0.408000 4 15 0 0 1 0 0 RANGAP1 5905 broad.mit.edu 37 22 41650329 41650329 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr22:41650329G>A ENST00000455915.2 - 10 2712 c.1243C>T c.(1243-1245)Ctg>Ttg p.L415L RANGAP1_ENST00000356244.3_Silent_p.L415L|RANGAP1_ENST00000405486.1_Silent_p.L415L|RANGAP1_ENST00000407260.4_Silent_p.L360L P46060 RAGP1_HUMAN Ran GTPase activating protein 1 415 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTAGGGTCCAGAATCTTCCGT 0.562000 10 37 0 0 1 0 0 ASL 435 broad.mit.edu 37 7 65557059 65557059 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:65557059C>G ENST00000304874.9 + 15 1231 c.1129C>G c.(1129-1131)Ctg>Gtg p.L377V AC068533.7_ENST00000450043.1_Missense_Mutation_p.P145R|ASL_ENST00000380839.4_Missense_Mutation_p.L351V|ASL_ENST00000395331.3_Missense_Mutation_p.L357V|ASL_ENST00000395332.3_Missense_Mutation_p.L377V|ASL_ENST00000464970.1_3'UTR NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 377 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) TGCCTATTACCTGGTCCGCAA 0.642000 11 65 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42249377 42249377 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:42249377C>G ENST00000379310.3 - 36 4451 c.4383G>C c.(4381-4383)aaG>aaC p.K1461N NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 ATCGGAGTTTCTTTGATTGAA 0.343000 5 13 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79034076 79034076 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:79034076G>A ENST00000446378.2 + 2 9519 c.9488G>A c.(9487-9489)gGa>gAa p.G3163E NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3163 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GCAGAGGAAGGAGTTCTATCA 0.428000 7 26 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76330187 76330187 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:76330187G>C ENST00000298832.9 + 29 3709 c.3504G>C c.(3502-3504)caG>caC p.Q1168H TTLL5_ENST00000554510.1_Missense_Mutation_p.Q677H|TTLL5_ENST00000556893.1_Missense_Mutation_p.Q719H|TTLL5_ENST00000557636.1_Missense_Mutation_p.Q1183H NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1168 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) TCCTGGACCAGAGTCGAGCCC 0.443000 18 31 0 0 1 0 0 COA3 28958 broad.mit.edu 37 17 40950643 40950643 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:40950643G>A ENST00000328434.7 - 1 79 c.57C>T c.(55-57)ttC>ttT p.F19F NM_001040431.1 NP_001035521.1 cytochrome c oxidase assembly factor 3 TACGCTGAGCGAACGGGGCCT 0.662000 6 31 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207026170 207026170 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:207026170G>C ENST00000392222.2 + 3 679 c.304G>C c.(304-306)Gac>Cac p.D102H EEF1B2_ENST00000392221.1_Missense_Mutation_p.D102H|EEF1B2_ENST00000236957.5_Missense_Mutation_p.D102H NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 102 cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 TGATGACATTGACCTCTTTGG 0.488000 10 52 0 0 1 0 0 CORO6 84940 broad.mit.edu 37 17 27946728 27946728 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:27946728C>G ENST00000345068.5 - 3 475 c.262G>C c.(262-264)Gac>Cac p.D88H CORO6_ENST00000580212.1_Missense_Mutation_p.D88H|CORO6_ENST00000445145.2_Missense_Mutation_p.D88H|CORO6_ENST00000577909.1_Intron|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000388767.3_Missense_Mutation_p.D88H|CORO6_ENST00000584969.1_Missense_Mutation_p.D88H Q6QEF8 CORO6_HUMAN coronin 6 88 actin cytoskeleton organization actin cytoskeleton actin filament binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2) 14 GGACACCAGTCAATATCCAGC 0.567000 23 56 0 0 1 0 0 SYAP1 94056 broad.mit.edu 37 X 16773177 16773177 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:16773177G>C ENST00000380155.3 + 6 778 c.685G>C c.(685-687)Gag>Cag p.E229Q NM_032796.3 NP_116185.2 Q96A49 SYAP1_HUMAN synapse associated protein 1 229 endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1) 10 Hepatocellular(33;0.0997) AGGGAAGGAGGAGAAGAGCAA 0.517000 21 28 0 0 1 0 0 FAM216A 29902 broad.mit.edu 37 12 110922933 110922933 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:110922933G>A ENST00000377673.5 + 3 747 c.235G>A c.(235-237)Gag>Aag p.E79K NM_013300.2 NP_037432.2 Q8WUB2 CL024_HUMAN family with sequence similarity 216, member A 79 TAAGCTGCAAGAGTTATGGAA 0.383000 14 53 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196722155 196722155 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:196722155G>C ENST00000312428.6 - 44 8460 c.8360C>G c.(8359-8361)tCt>tGt p.S2787C NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2787 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GGCCGCTGTAGAAGCATTTCT 0.358000 15 48 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183707101 183707101 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:183707101G>A ENST00000334444.6 - 3 440 c.200C>T c.(199-201)tCt>tTt p.S67F ABCC5_ENST00000427120.2_Missense_Mutation_p.S67F|ABCC5_ENST00000265586.6_Missense_Mutation_p.S67F|ABCC5_ENST00000392579.2_Missense_Mutation_p.S67F|ABCC5_ENST00000382494.2_Missense_Mutation_p.S67F NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 67 integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCTGAGCTGAGAATGCATGGA 0.532000 11 67 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42865107 42865107 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:42865107G>C ENST00000334370.4 + 31 6103 c.5468G>C c.(5467-5469)gGg>gCg p.G1823A MEGF8_ENST00000251268.6_Missense_Mutation_p.G1890A NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1890 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) AACCAGTCTGGGGCCTGCACC 0.672000 7 32 0 0 1 0 0 MBD2 8932 broad.mit.edu 37 18 51731376 51731376 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:51731376G>A ENST00000256429.3 - 2 922 c.694C>T c.(694-696)Caa>Taa p.Q232* MBD2_ENST00000583046.1_Nonsense_Mutation_p.Q232*|MBD2_ENST00000398398.2_Nonsense_Mutation_p.Q232* NM_003927.4 NP_003918.1 Q9UBB5 MBD2_HUMAN methyl-CpG binding domain protein 2 232 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) ACCTTATTTTGATTGAGAGGA 0.348000 28 86 0 0 1 0 0 MAP3K2 10746 broad.mit.edu 37 2 128066254 128066254 + Nonsense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:128066254G>C ENST00000409947.1 - 16 1823 c.1541C>G c.(1540-1542)tCa>tGa p.S514* MAP3K2_ENST00000344908.5_Nonsense_Mutation_p.S514* Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 2 514 Protein kinase. activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) TCCTGTCCCTGAGAGACAGAT 0.478000 34 92 0 0 1 0 0 ATRN 8455 broad.mit.edu 37 20 3543082 3543082 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr20:3543082G>A ENST00000262919.5 + 9 1675 c.1607G>A c.(1606-1608)cGa>cAa p.R536Q ATRN_ENST00000446916.2_Missense_Mutation_p.R536Q NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 536 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 GATCTCTACCGATATGATGTG 0.438000 13 35 0 0 1 0 0 ZNF70 7621 broad.mit.edu 37 22 24086120 24086120 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr22:24086120C>T ENST00000341976.3 - 2 1668 c.1208G>A c.(1207-1209)cGg>cAg p.R403Q NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 403 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 GAGGGCTGACCGGTGCCGGAA 0.592000 23 88 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282755 152282755 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:152282755C>G ENST00000368799.1 - 3 4642 c.4607G>C c.(4606-4608)gGa>gCa p.G1536A FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1536 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTTCTGGGTCCTGACTGCCC 0.572000 Ichthyosis 48 277 0 0 1 0 0 CHFR 55743 broad.mit.edu 37 12 133435664 133435664 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:133435664C>T ENST00000266880.7 - 8 1000 c.937G>A c.(937-939)Gac>Aac p.D313N CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.D313N|CHFR_ENST00000450056.2_Missense_Mutation_p.D301N|CHFR_ENST00000443047.2_Missense_Mutation_p.D221N|CHFR_ENST00000315585.7_Missense_Mutation_p.D272N Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 313 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.D272N(1)|p.D313N(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) CTCACGCAGTCGTGCAGCAGG 0.612000 8 20 0 0 1 0 0 CHID1 66005 broad.mit.edu 37 11 902253 902253 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:902253C>T ENST00000449825.1 - 4 695 c.339G>A c.(337-339)ctG>ctA p.L113L CHID1_ENST00000454838.2_Silent_p.L138L|CHID1_ENST00000429789.2_Silent_p.L113L|CHID1_ENST00000528581.1_Silent_p.L138L|CHID1_ENST00000323541.7_Silent_p.L143L|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323578.8_Silent_p.L113L|CHID1_ENST00000436108.2_Silent_p.L113L|CHID1_ENST00000336845.5_Silent_p.L138L NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 113 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) CACGTCTCTTCAGCTGCAGCC 0.552000 7 24 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100791181 100791181 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:100791181G>A ENST00000358544.2 + 42 7887 c.7776G>A c.(7774-7776)gtG>gtA p.V2592V VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V2567V NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2592 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ACTGCACCGTGATAGTTGATT 0.443000 10 65 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64408435 64408435 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:64408435C>T ENST00000358025.3 + 4 394 c.164C>T c.(163-165)tCc>tTc p.S55F SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S55F|SYNE2_ENST00000356081.3_Missense_Mutation_p.S55F|SYNE2_ENST00000344113.4_Missense_Mutation_p.S55F|SYNE2_ENST00000341472.5_Missense_Mutation_p.S55F NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 55 Actin-binding.|CH 1. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCAGTTATATCCGACCTATTC 0.378000 4 56 0 0 1 0 0 BCAR3 8412 broad.mit.edu 37 1 94048270 94048270 + Nonsense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:94048270G>C ENST00000370244.1 - 9 1562 c.1274C>G c.(1273-1275)tCa>tGa p.S425* BCAR3_ENST00000370247.3_Nonsense_Mutation_p.S334*|BCAR3_ENST00000539242.1_Nonsense_Mutation_p.S101*|BCAR3_ENST00000370243.1_Nonsense_Mutation_p.S425*|BCAR3_ENST00000260502.6_Nonsense_Mutation_p.S425*|BCAR3_ENST00000466632.1_5'UTR NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 425 response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) GTTGGCCTCTGAGTTGAGCCA 0.602000 10 29 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91631431 91631431 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:91631431G>A ENST00000359028.2 + 9 2461 c.2236G>A c.(2236-2238)Gaa>Aaa p.E746K AKAP9_ENST00000356239.3_Missense_Mutation_p.E734K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E746K Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 746 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACTCAGACAAGAAGAAAAAGA 0.294000 T BRAF papillary thyroid 12 26 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110450584 110450584 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:110450584G>C ENST00000260283.4 - 16 3370 c.3086C>G c.(3085-3087)tCt>tGt p.S1029C ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S572C|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S993C|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S993C|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S1003C|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S1006C|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S1003C NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1029 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) AAGAGTTACAGAATGCATTTG 0.512000 13 63 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103355070 103355070 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:103355070C>A ENST00000358392.2 - 59 4758 c.4441G>T c.(4441-4443)Gaa>Taa p.E1481* COL11A1_ENST00000353414.4_Nonsense_Mutation_p.E1430*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.E1469*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.E1353* NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1469 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCACCTTTTTCCCCTTGTTCT 0.408000 9 67 1.76689e-08 1.85191e-08 1 1 0 SLC12A8 84561 broad.mit.edu 37 3 124826857 124826857 + Missense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:124826857G>T ENST00000423114.2 - 10 1259 c.1260C>A c.(1258-1260)ttC>ttA p.F420L SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000430155.2_Missense_Mutation_p.F192L|SLC12A8_ENST00000469902.1_Missense_Mutation_p.F391L|SLC12A8_ENST00000393469.4_Missense_Mutation_p.F391L|SLC12A8_ENST00000314584.7_Missense_Mutation_p.F144L A0AV02 S12A8_HUMAN solute carrier family 12, member 8 391 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 ATGTCAGCATGAAGTTGATGG 0.572000 3 28 0.115264 0.115726 1 1 0 MLF1 4291 broad.mit.edu 37 3 158310291 158310291 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:158310291G>C ENST00000359117.5 + 2 277 c.41G>C c.(40-42)aGa>aCa p.R14T MLF1_ENST00000482628.1_Missense_Mutation_p.R14T|MLF1_ENST00000392822.3_Missense_Mutation_p.R55T|MLF1_ENST00000355893.5_Missense_Mutation_p.R39T|MLF1_ENST00000469452.1_Missense_Mutation_p.R14T|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000471745.1_Missense_Mutation_p.R14T|MLF1_ENST00000484955.1_Missense_Mutation_p.R14T|MLF1_ENST00000478894.2_Missense_Mutation_p.R14T NM_001130156.2 NP_001123628.1 P58340 MLF1_HUMAN myeloid leukemia factor 1 39 cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding large_intestine(3) 3 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) CCCTTTGGAAGAGACTTGCTC 0.368000 T NPM1 AML 5 73 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100392931 100392931 + RNA SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:100392931C>G ENST00000542585.1 + 0 8449 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TATGGAGCCTCGAGATGCGCC 0.587000 4 11 0 0 1 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68777186 68777186 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:68777186C>G ENST00000508048.1 - 10 1163 c.1128G>C c.(1126-1128)ctG>ctC p.L376L UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Silent_p.L377L|TMPRSS11A_ENST00000334830.7_Silent_p.L380L Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 380 Peptidase S1. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 ACGTATCTTTCAGATCCCTTG 0.363000 14 36 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49282112 49282112 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:49282112C>G ENST00000438782.1 + 6 714 c.478C>G c.(478-480)Ctc>Gtc p.L160V CCDC36_ENST00000366429.2_Missense_Mutation_p.I143M|CCDC36_ENST00000451634.2_Missense_Mutation_p.I133M|CCDC36_ENST00000452691.2_Missense_Mutation_p.L160V|CCDC36_ENST00000296449.5_Missense_Mutation_p.L160V Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 160 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) TGAGGACCATCTCAGTTCAAG 0.413000 20 51 0 0 1 0 0 BIRC2 329 broad.mit.edu 37 11 102239086 102239086 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:102239086G>A ENST00000227758.2 + 6 2572 c.1173G>A c.(1171-1173)atG>atA p.M391I BIRC2_ENST00000532672.1_Missense_Mutation_p.M370I|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.M342I NM_001166.4|NM_001256163.1 NP_001157.1|NP_001243092.1 Q13490 BIRC2_HUMAN baculoviral IAP repeat containing 2 391 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) CTGTCATGATGAATACACCTG 0.348000 14 64 0 0 1 0 0 METTL12 751071 broad.mit.edu 37 11 62433912 62433912 + Missense_Mutation SNP C C G rs111425217 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:62433912C>G ENST00000532971.1 + 3 369 c.112C>G c.(112-114)Cgg>Ggg p.R38G C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron NM_001043229.1 NP_001036694.1 A8MUP2 MTL12_HUMAN methyltransferase like 12 38 mitochondrion methyltransferase activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 6 TCTCTGGGATCGGCTGCATGC 0.602000 10 40 0 0 1 0 0 TBC1D5 9779 broad.mit.edu 37 3 17446432 17446432 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:17446432G>C ENST00000253692.7 - 6 1962 c.298C>G c.(298-300)Caa>Gaa p.Q100E TBC1D5_ENST00000446818.2_Missense_Mutation_p.Q100E|TBC1D5_ENST00000429383.4_Missense_Mutation_p.Q100E|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.Q52E NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 100 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 CTTTTGTCTTGAGGAAGAACA 0.274000 4 39 0 0 1 0 0 CCDC38 120935 broad.mit.edu 37 12 96292198 96292198 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:96292198C>G ENST00000344280.3 - 7 1136 c.579G>C c.(577-579)ctG>ctC p.L193L SNRPF_ENST00000552085.1_Intron NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 193 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TTGCTTTCTTCAGCTCTGCTG 0.418000 28 62 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28672097 28672097 + Silent SNP C C T rs140856220 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:28672097C>T ENST00000280904.6 - 3 764 c.321G>A c.(319-321)aaG>aaA p.K107K DSC2_ENST00000251081.6_Silent_p.K107K NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 107 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) CAAATATTTTCTTCTTTTCTT 0.338000 7 31 0 0 1 0 0 LPPR1 54886 broad.mit.edu 37 9 104048463 104048463 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:104048463G>A ENST00000374874.3 + 4 769 c.330G>A c.(328-330)ctG>ctA p.L110L LPPR1_ENST00000395056.2_Silent_p.L110L NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 110 integral to membrane catalytic activity AAACAATTCTGACCGGAGAAT 0.373000 10 42 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152602 50152602 + Nonsense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:50152602G>C ENST00000284509.6 - 28 3509 c.3368C>G c.(3367-3369)tCa>tGa p.S1123* ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.S1123* NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1123 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TCTTGAGCTTGACCTGCGGGT 0.512000 11 39 0 0 1 0 0 SRSF4 6429 broad.mit.edu 37 1 29475582 29475582 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:29475582C>G ENST00000373795.4 - 6 1059 c.825G>C c.(823-825)gaG>gaC p.E275D SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 275 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 TTTGGATCTTCTCTTCAGCTT 0.532000 23 243 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11047567 11047567 + RNA SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr21:11047567C>T ENST00000470054.1 - 0 687 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) GTATCACACACTAGCATCTTG 0.338000 8 241 0 0 1 0 0 OVOL2 58495 broad.mit.edu 37 20 18022275 18022275 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr20:18022275G>C ENST00000278780.6 - 3 656 c.414C>G c.(412-414)ctC>ctG p.L138L OVOL2_ENST00000483661.1_5'UTR NM_021220.2 NP_067043.2 Q9BRP0 OVOL2_HUMAN ovo-like zinc finger 2 138 negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent nucleus DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3) 6 TGTGGCACTTGAGGTGACGGT 0.602000 7 27 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32956194 32956194 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:32956194G>A ENST00000321639.5 + 5 1367 c.1039G>A c.(1039-1041)Gat>Aat p.D347N NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 347 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CATTCAGCGGGATGTGCAAGC 0.592000 5 16 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185198096 185198096 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:185198096G>C ENST00000265026.3 + 13 2912 c.2578G>C c.(2578-2580)Gag>Cag p.E860Q MAP3K13_ENST00000443863.1_Missense_Mutation_p.E716Q|MAP3K13_ENST00000535426.1_Missense_Mutation_p.E716Q|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.E653Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E860Q NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 860 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TGATGGAGAAGAGGGAAATAC 0.493000 23 61 0 0 1 0 0 C11orf71 54494 broad.mit.edu 37 11 114270825 114270825 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:114270825C>A ENST00000325636.4 - 1 314 c.229G>T c.(229-231)Gaa>Taa p.E77* RBM7_ENST00000540163.1_5'UTR NM_019021.3 NP_061894.2 Q6IPW1 CK071_HUMAN chromosome 11 open reading frame 71 77 large_intestine(3)|lung(1) 4 all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036) CCATCTGGTTCCCTTGGGCTC 0.627000 12 45 2.61681e-11 2.78054e-11 1 1 0 FANCA 2175 broad.mit.edu 37 16 89842160 89842160 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:89842160C>G ENST00000389301.3 - 21 1920 c.1890G>C c.(1888-1890)gaG>gaC p.E630D FANCA_ENST00000568369.1_Missense_Mutation_p.E630D|FANCA_ENST00000567284.2_5'UTR NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 630 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CTTCTGGCTTCTCTTCAGCAG 0.493000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 3 15 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308233 140308233 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:140308233G>A ENST00000253807.2 + 1 1756 c.1756G>A c.(1756-1758)Gag>Aag p.E586K PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E586K|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGGTAGCAGAGGATGCTGA 0.512000 16 61 0 0 1 0 0 TPRN 286262 broad.mit.edu 37 9 140087082 140087082 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:140087082G>C ENST00000409012.4 - 2 1873 c.1787C>G c.(1786-1788)tCc>tGc p.S596C TPRN_ENST00000321773.2_Missense_Mutation_p.S535C NM_001128228.2 NP_001121700.2 Q4KMQ1 TPRN_HUMAN taperin 596 Glu-rich. sensory perception of sound stereocilium breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 8 ctgctcTAGGGAGCTCTCGGA 0.582000 8 27 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059559 9059559 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:9059559G>C ENST00000397910.4 - 3 28090 c.27887C>G c.(27886-27888)tCt>tGt p.S9296C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9298 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTCTCTTCAGAGATGCTGGT 0.493000 12 95 0 0 1 0 0 CIRH1A 84916 broad.mit.edu 37 16 69196989 69196989 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:69196989C>T ENST00000563094.1 + 14 1589 c.1555C>T c.(1555-1557)Cac>Tac p.H519Y CIRH1A_ENST00000352319.4_Missense_Mutation_p.H404Y|CIRH1A_ENST00000314423.7_Missense_Mutation_p.H519Y Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 519 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) TTCCCAGCTTCACTGCACGGT 0.478000 26 89 0 0 1 0 0 RUVBL1 8607 broad.mit.edu 37 3 127801372 127801372 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:127801372C>A ENST00000322623.5 - 10 1264 c.1165G>T c.(1165-1167)Gag>Tag p.E389* RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000417360.1_Intron NM_003707.2 NP_003698.1 Q9Y265 RUVB1_HUMAN RuvB-like AAA ATPase 1 389 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GBM - Glioblastoma multiforme(114;0.181) TTCAGTGCCTCCTCACTGATG 0.557000 7 80 0.000157383 0.000160425 1 1 0 IQSEC3 440073 broad.mit.edu 37 12 250398 250398 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:250398G>A ENST00000538872.1 + 5 2218 c.2100G>A c.(2098-2100)atG>atA p.M700I RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.M700I|IQSEC3_ENST00000382841.2_Missense_Mutation_p.M397I Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 700 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GCCGCCAGATGATTGGAGAGT 0.607000 10 25 0 0 1 0 0 GPHN 10243 broad.mit.edu 37 14 67610141 67610141 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:67610141C>T ENST00000478722.1 + 18 2932 c.1811C>T c.(1810-1812)tCa>tTa p.S604L GPHN_ENST00000543237.1_Missense_Mutation_p.S617L|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.S540L|GPHN_ENST00000315266.5_Missense_Mutation_p.S571L NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 571 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) ATCATCACATCAGGGGGTGTA 0.418000 T MLL AL 12 73 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124175549 124175549 + Silent SNP G G A rs147099139 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:124175549G>A ENST00000360013.3 + 23 3949 c.3822G>A c.(3820-3822)gaG>gaA p.E1274E KALRN_ENST00000460856.1_Silent_p.E1265E|KALRN_ENST00000240874.3_Silent_p.E1274E NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1274 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TCAATGAAGAGAAGCGGAAGT 0.552000 10 47 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56493627 56493627 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:56493627G>C ENST00000267101.3 + 25 3383 c.2943G>C c.(2941-2943)gaG>gaC p.E981D ERBB3_ENST00000450146.2_Missense_Mutation_p.E338D|ERBB3_ENST00000549832.1_Missense_Mutation_p.E101D|ERBB3_ENST00000553131.1_Missense_Mutation_p.E222D|ERBB3_ENST00000415288.2_Missense_Mutation_p.E922D NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 981 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TATAGAGAGAGAGTGGGCCTG 0.502000 6 29 0 0 1 0 0 ZWILCH 55055 broad.mit.edu 37 15 66829597 66829597 + Nonsense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:66829597C>T ENST00000307897.5 + 16 1950 c.1570C>T c.(1570-1572)Caa>Taa p.Q524* ZWILCH_ENST00000446801.2_Nonsense_Mutation_p.Q410*|ZWILCH_ENST00000535141.2_Nonsense_Mutation_p.Q410*|ZWILCH_ENST00000565627.1_Nonsense_Mutation_p.Q410* NM_017975.3 NP_060445.3 Q9H900 ZWILC_HUMAN zwilch kinetochore protein 524 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 GAACTTATATCAAAGGTAAGC 0.423000 14 34 0 0 1 0 0 NOA1 84273 broad.mit.edu 37 4 57839436 57839436 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:57839436C>G ENST00000264230.4 - 3 2630 c.1393G>C c.(1393-1395)Gac>Cac p.D465H NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 465 GTP binding TTTTCCATGTCAAAGGCAAGT 0.403000 7 110 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676453 100676453 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:100676453G>C ENST00000306151.4 + 3 1820 c.1756G>C c.(1756-1758)Gag>Cag p.E586Q NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 586 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGTCAGTTCTGAGGCTAGCAC 0.478000 47 194 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 92019317 92019317 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:92019317G>A ENST00000265742.3 + 15 2315 c.1939G>A c.(1939-1941)Gaa>Aaa p.E647K NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 647 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CACTTTCATTGAAGATGCAGT 0.333000 5 73 0 0 1 0 0 SRSF4 6429 broad.mit.edu 37 1 29474983 29474983 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:29474983C>G ENST00000373795.4 - 6 1658 c.1424G>C c.(1423-1425)aGa>aCa p.R475T SRSF4_ENST00000546138.1_3'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 475 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 AGACCTGGATCTAGACTTGGA 0.502000 3 50 0 0 1 0 0 C1orf87 127795 broad.mit.edu 37 1 60456431 60456431 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:60456431G>C ENST00000371201.3 - 12 1662 c.1555C>G c.(1555-1557)Cag>Gag p.Q519E C1orf87_ENST00000450089.2_Missense_Mutation_p.Q290E|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000395552.1_Missense_Mutation_p.Q153E NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 519 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TCGATTTTCTGAGGGCTCAGG 0.493000 55 199 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141414074 141414074 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:141414074G>A ENST00000397541.2 + 2 814 c.408G>A c.(406-408)ttG>ttA p.L136L WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 136 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) CTAAGCATTTGAAGCTCACAC 0.448000 23 86 0 0 1 0 0 TAX1BP1 8887 broad.mit.edu 37 7 27868398 27868398 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:27868398G>C ENST00000396319.2 + 17 2408 c.2320G>C c.(2320-2322)Gaa>Caa p.E774Q TAX1BP1_ENST00000433216.2_Missense_Mutation_p.E575Q|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.E732Q|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.E798Q|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.E732Q NM_006024.6 NP_006015.4 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) binding protein 1 774 anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(3;0.0823) GCAGGTGTTTGAAAGGCATGT 0.368000 16 76 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151880090 151880090 + Nonsense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:151880090G>C ENST00000355193.2 - 35 5452 c.5234C>G c.(5233-5235)tCa>tGa p.S1745* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S1745* lysine (K)-specific methyltransferase 2C p.S1745*(2) TTCATGTTCTGATTCTCTTTG 0.358000 31 103 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34092461 34092461 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr20:34092461G>C ENST00000397527.1 + 30 6984 c.6264G>C c.(6262-6264)gaG>gaC p.E2088D CEP250_ENST00000342580.4_Missense_Mutation_p.E2032D NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 2088 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AAGAGGAGGAGATAAGGGGCC 0.532000 10 25 0 0 1 0 0 PSMA6 5687 broad.mit.edu 37 14 35786501 35786501 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:35786501G>A ENST00000261479.4 + 7 850 c.730G>A c.(730-732)Gag>Aag p.E244K PSMA6_ENST00000540871.1_Missense_Mutation_p.E225K|PSMA6_ENST00000556506.1_3'UTR|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.E250K|PSMA6_ENST00000555764.1_Missense_Mutation_p.E165K NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 244 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity p.E244Q(1) kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) TGCTCTAGCAGAGAGAGACTA 0.393000 33 26 0 0 1 0 0 UBAP2 55833 broad.mit.edu 37 9 33973226 33973226 + Missense_Mutation SNP C C T rs142268445 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:33973226C>T ENST00000379238.1 - 7 647 c.530G>A c.(529-531)cGt>cAt p.R177H UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.R177H|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000449054.1_Missense_Mutation_p.R177H Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 177 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) CCCTCTGCCACGTCCAAATCC 0.373000 18 81 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81657121 81657121 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:81657121G>A ENST00000550584.2 - 30 3899 c.3604C>T c.(3604-3606)Cct>Tct p.P1202S PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P1181S|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P1097S|PPFIA2_ENST00000549396.1_Missense_Mutation_p.P1202S|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P738S|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P1049S|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P1187S|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P1196S|PPFIA2_ENST00000541017.1_Missense_Mutation_p.P388S|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P1101S|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P1190S NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 1101 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TCACGAGGAGGAAACTGCCTT 0.438000 8 20 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131768007 131768007 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:131768007C>T ENST00000372577.2 + 41 4842 c.4821C>T c.(4819-4821)ttC>ttT p.F1607F NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1607 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.F1607F(1) breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 CCCCCTCCTTCGGGACCCTTC 0.572000 57 201 0 0 1 0 0 BEND2 139105 broad.mit.edu 37 X 18230687 18230687 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:18230687C>G ENST00000380033.4 - 4 622 c.490G>C c.(490-492)Gag>Cag p.E164Q BEND2_ENST00000380030.3_Missense_Mutation_p.E164Q NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 164 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 ATATCTACCTCTGGAGTATAG 0.318000 16 12 0 0 1 0 0 CCDC102B 79839 broad.mit.edu 37 18 66721302 66721302 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:66721302G>A ENST00000360242.5 + 8 1587 c.1470G>A c.(1468-1470)caG>caA p.Q490Q CCDC102B_ENST00000319445.6_Silent_p.Q490Q NM_024781.2 NP_079057 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 490 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GTAAGCTCCAGAGGTCTCTGG 0.373000 9 43 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764853 138764853 + Missense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:138764853C>A ENST00000242351.5 - 4 1150 c.834G>T c.(832-834)caG>caT p.Q278H ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.Q278H|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.Q278H NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 278 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 TGTGGCTGATCTGATCTGGAC 0.577000 30 65 1.80694e-10 1.90585e-10 1 1 0 CBLB 868 broad.mit.edu 37 3 105377987 105377987 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:105377987C>G ENST00000264122.4 - 19 3097 c.2776G>C c.(2776-2778)Gag>Cag p.E926Q CBLB_ENST00000407712.1_Missense_Mutation_p.E141Q|CBLB_ENST00000394027.3_Missense_Mutation_p.E904Q NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 926 Interaction with SH3KBP1. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 AATGCCGCCTCAGGCCCATGG 0.493000 Mis S AML 15 90 0 0 1 0 0 ACAA2 10449 broad.mit.edu 37 18 47311614 47311614 + Silent SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:47311614C>A ENST00000285093.10 - 9 1537 c.1062G>T c.(1060-1062)ctG>ctT p.L354L ACAA2_ENST00000587994.1_Silent_p.L351L|ACAA2_ENST00000589432.1_Silent_p.L299L NM_006111.2 NP_006102.2 P42765 THIM_HUMAN acetyl-CoA acyltransferase 2 354 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding large_intestine(2)|lung(7)|ovary(1) 10 CAGATCCTCCCAGTGGGTGAC 0.418000 9 32 2.80697e-09 2.9544e-09 1 1 0 PSPC1 55269 broad.mit.edu 37 13 20346427 20346427 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:20346427C>T ENST00000338910.4 - 2 788 c.629G>A c.(628-630)cGa>cAa p.R210Q NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 210 RRM 2.|Sufficient for paraspeckles localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding p.R210Q(1) breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) CAGAGCCTTTCGTGCAGGAGG 0.438000 13 68 0 0 1 0 0 ARHGAP1 392 broad.mit.edu 37 11 46703683 46703683 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:46703683G>A ENST00000311956.4 - 5 464 c.367C>T c.(367-369)Ctg>Ttg p.L123L NM_004308.3 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 123 CRAL-TRIO. Rho protein signal transduction cytosol|intracellular membrane-bounded organelle SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) TGCAGATACAGAAGTGTGTAG 0.627000 18 73 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067904 190067904 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:190067904G>C ENST00000367462.3 - 8 1776 c.1545C>G c.(1543-1545)atC>atG p.I515M BRINP3_ENST00000534846.1_Missense_Mutation_p.I413M NM_199051.1 NP_950252.1 bone morphogenetic protein/retinoic acid inducible neural-specific 3 515 TGTCATTGCTGATAAAAATGG 0.453000 4 98 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232100046 232100046 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:232100046C>G ENST00000349938.4 + 8 926 c.732C>G c.(730-732)gtC>gtG p.V244V ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.4 NP_001258395.1|NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 244 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) TCATTGGAGTCACAGCAGAGC 0.493000 7 11 0 0 1 0 0 TRIM52 84851 broad.mit.edu 37 5 180687503 180687503 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:180687503G>C ENST00000327767.4 - 1 616 c.312C>G c.(310-312)ctC>ctG p.L104L CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR NM_032765.2 NP_116154.1 Q96A61 TRI52_HUMAN tripartite motif containing 52 104 Glu-rich. intracellular zinc ion binding endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.232) CACCGAGCCAGAGTTCATCGT 0.507000 4 91 0 0 1 0 0 MTURN 222166 broad.mit.edu 37 7 30185805 30185805 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:30185805G>T ENST00000324453.8 + 2 502 c.175G>T c.(175-177)Gag>Tag p.E59* C7orf41_ENST00000409688.1_Intron|C7orf41_ENST00000455738.1_Nonsense_Mutation_p.E26*|C7orf41_ENST00000324489.5_Nonsense_Mutation_p.E26*|C7orf41_ENST00000415604.1_Nonsense_Mutation_p.E59* NM_152793.2 NP_690006.2 Q8N3F0 CG041_HUMAN 59 NS(1)|large_intestine(2) 3 CGTGTGGAGTGAGAGCGAGGA 0.522000 16 39 3.32936e-07 3.46779e-07 1 1 0 CASP3 836 broad.mit.edu 37 4 185550500 185550500 + Missense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:185550500C>A ENST00000308394.4 - 8 1022 c.760G>T c.(760-762)Gct>Tct p.A254S CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR|CASP3_ENST00000523916.1_Missense_Mutation_p.A254S NM_004346.3 NP_004337.2 P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 254 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) TGAAAAGTAGCGTCAAAGGAA 0.383000 4 95 0.00909568 0.00917812 1 1 0 ZSWIM2 151112 broad.mit.edu 37 2 187692909 187692909 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:187692909C>G ENST00000295131.2 - 9 1743 c.1704G>C c.(1702-1704)aaG>aaC p.K568N NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 568 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) AAGTTGATCTCTTGTTGTCCT 0.368000 10 30 0 0 1 0 0 CENPO 79172 broad.mit.edu 37 2 25038510 25038510 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:25038510C>G ENST00000380834.2 + 5 904 c.479C>G c.(478-480)cCc>cGc p.P160R CENPO_ENST00000260662.1_Missense_Mutation_p.P160R|CENPO_ENST00000473706.1_Missense_Mutation_p.P154R Q9BU64 CENPO_HUMAN centromere protein O 160 cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GTCTTCATTCCCCTGGAAGAG 0.458000 16 68 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080221 194080221 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:194080221G>C ENST00000347624.3 - 2 1637 c.1552C>G c.(1552-1554)Ctg>Gtg p.L518V LRRC15_ENST00000428839.1_Missense_Mutation_p.L524V|LRRC15_ENST00000439944.2_Missense_Mutation_p.L524V NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 518 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) ATGGTAGTCAGATCAGTGTAG 0.562000 7 46 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89807248 89807248 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:89807248C>T ENST00000310775.7 + 8 746 c.660C>T c.(658-660)ctC>ctT p.L220L FANCI_ENST00000300027.8_Silent_p.L220L|FANCI_ENST00000567996.1_Silent_p.L220L|FANCI_ENST00000451393.2_Silent_p.L41L NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 220 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TTCTGGTTCTCTCCTCCAAGG 0.403000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 58 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56494956 56494956 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:56494956G>A ENST00000267101.3 + 27 3753 c.3313G>A c.(3313-3315)Gag>Aag p.E1105K ERBB3_ENST00000450146.2_Missense_Mutation_p.E462K|ERBB3_ENST00000549832.1_Missense_Mutation_p.E225K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E346K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1046K NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1105 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AACAGGCTCTGAGGCTGAGCT 0.617000 3 16 0 0 1 0 0 CLUL1 27098 broad.mit.edu 37 18 641365 641365 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:641365G>A ENST00000581619.1 + 7 1955 c.1108G>A c.(1108-1110)Gag>Aag p.E370K CLUL1_ENST00000338387.7_Missense_Mutation_p.E345K|C18orf56_ENST00000585033.1_3'UTR|CLUL1_ENST00000579494.1_Missense_Mutation_p.E345K|CLUL1_ENST00000540035.1_Missense_Mutation_p.E397K|CLUL1_ENST00000400606.2_Missense_Mutation_p.E345K Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) 345 cell death extracellular region NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1) 24 AGAATTAGACGAGGCGATCAG 0.488000 11 40 0 0 1 0 0 EIF4B 1975 broad.mit.edu 37 12 53413718 53413718 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:53413718G>A ENST00000262056.9 + 4 711 c.385G>A c.(385-387)Gaa>Aaa p.E129K EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.E129K|EIF4B_ENST00000416762.3_Intron|RP11-983P16.4_ENST00000552905.1_RNA NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 129 RRM. insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 TTTACCACGTGAACCCAGCAA 0.423000 5 31 0 0 1 0 0 UPP2 151531 broad.mit.edu 37 2 158978037 158978037 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:158978037G>A ENST00000605860.1 + 8 788 c.742G>A c.(742-744)Gaa>Aaa p.E248K UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.E191K|UPP2_ENST00000409859.4_Missense_Mutation_p.E248K O95045 UPP2_HUMAN uridine phosphorylase 2 191 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity p.E191*(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 ACTGGACAAAGAACTGTCTGA 0.413000 24 65 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61510987 61510987 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr20:61510987G>A ENST00000266070.4 - 16 6646 c.6321C>T c.(6319-6321)ggC>ggT p.G2107G DIDO1_ENST00000395343.1_Silent_p.G2107G NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2107 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) CGGACGCCCGGCCCTGGGCGT 0.677000 39 117 0 0 1 0 0 BTRC 8945 broad.mit.edu 37 10 103310522 103310522 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:103310522G>A ENST00000370187.3 + 14 1841 c.1723G>A c.(1723-1725)Gac>Aac p.D575N BTRC_ENST00000393441.4_Missense_Mutation_p.D534N|BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Missense_Mutation_p.D539N NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 575 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) TTCACATGATGACACAATCCT 0.438000 10 74 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327684 152327684 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:152327684G>A ENST00000388718.5 - 3 2650 c.2578C>T c.(2578-2580)Caa>Taa p.Q860* FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 860 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCCATGTTGACCATAGCCA 0.498000 71 337 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81046741 81046741 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:81046741C>G ENST00000555265.1 - 20 3208 c.2833G>C c.(2833-2835)Gat>Cat p.D945H CEP128_ENST00000281129.3_Missense_Mutation_p.D945H Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 945 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 ATTTCTTCATCTTTTCTTTGG 0.323000 28 48 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29663696 29663696 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:29663696C>G ENST00000358273.4 + 42 6574 c.6191C>G c.(6190-6192)tCt>tGt p.S2064C NF1_ENST00000356175.3_Missense_Mutation_p.S2043C NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2064 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACATGCTTATCTCCAACTCCT 0.348000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 23 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93339 93339 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:93339G>C ENST00000447903.2 - 4 1092 c.777C>G c.(775-777)ttC>ttG p.F259L TUBB8_ENST00000309812.4_Missense_Mutation_p.F331L Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 331 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) CTTGAATGTTGAACATTTGTT 0.537000 4 96 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57646468 57646468 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:57646468G>A ENST00000269834.1 - 5 1622 c.1237C>T c.(1237-1239)Cat>Tat p.H413Y NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCTCCGCTATGAGTTTTCTGA 0.378000 27 112 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112176962 112176962 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:112176962G>C ENST00000457016.1 + 16 6051 c.5671G>C c.(5671-5673)Gag>Cag p.E1891Q APC_ENST00000257430.4_Missense_Mutation_p.E1891Q|APC_ENST00000508376.2_Missense_Mutation_p.E1891Q|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 1891 Highly charged.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TAAGGAATCAGAGGCTAAAGT 0.388000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 3 43 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118376326 118376326 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:118376326C>G ENST00000534358.1 + 27 9742 c.9719C>G c.(9718-9720)tCt>tGt p.S3240C KMT2A_ENST00000354520.4_Missense_Mutation_p.S3199C|KMT2A_ENST00000389506.5_Missense_Mutation_p.S3237C NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CTTGCTCCCTCTAGTACCCCT 0.443000 16 42 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57290755 57290755 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:57290755G>A ENST00000543872.2 + 4 2835 c.2571G>A c.(2569-2571)cgG>cgA p.R857R SMG8_ENST00000300917.5_Silent_p.R857R|CTD-2510F5.6_ENST00000577660.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 857 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 CTCGAGGTCGGAGATTCATGT 0.453000 41 64 0 0 1 0 0 ATP6V0C 527 broad.mit.edu 37 16 2569581 2569581 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:2569581G>C ENST00000330398.4 + 3 537 c.303G>C c.(301-303)ctG>ctC p.L101L ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000568562.1_3'UTR|ATP6V0C_ENST00000565223.1_Silent_p.L58L|ATP6V0C_ENST00000564973.1_Silent_p.L58L|RP11-20I23.1_ENST00000564543.1_3'UTR NM_001198569.1|NM_001694.3 NP_001185498.1|NP_001685.1 P27449 VATL_HUMAN ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c 101 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding endometrium(1)|lung(1)|ovary(1) 3 Ovarian(90;0.17) GCGTGGGCCTGAGCGGCCTGG 0.687000 4 16 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48318490 48318490 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:48318490C>G ENST00000435803.1 + 18 7723 c.7699C>G c.(7699-7701)Caa>Gaa p.Q2567E NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2567 transport integral to membrane ATP binding|ATPase activity p.Q2512*(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ACAAAGTGTTCAAAATCTTGT 0.328000 3 52 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12125927 12125927 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:12125927G>A ENST00000379388.2 + 4 6231 c.5899G>A c.(5899-5901)Gat>Aat p.D1967N NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1967 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGCCTATACTGATTGGACAGT 0.423000 17 51 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170380643 170380643 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:170380643G>C ENST00000523189.1 + 13 1675 c.1511G>C c.(1510-1512)gGa>gCa p.G504A NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 504 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity p.G504L(1)|p.G504V(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ACAGTTGTAGGAGGAAGATTA 0.353000 T TRD@ ALL 3 39 0 0 1 0 0 PIAS2 9063 broad.mit.edu 37 18 44408028 44408028 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:44408028C>G ENST00000585916.1 - 11 1401 c.1402G>C c.(1402-1404)Gat>Cat p.D468H PIAS2_ENST00000545673.1_Missense_Mutation_p.D178H|PIAS2_ENST00000324794.7_Missense_Mutation_p.D468H NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 468 SUMO1-binding. androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 TCAATAACATCTACTTTCTTC 0.403000 14 28 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089740 43089740 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:43089740C>G ENST00000359467.3 - 5 772 c.658G>C c.(658-660)Gaa>Caa p.E220Q ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 220 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 ATACTGTATTCAAAATTGTGG 0.363000 20 77 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73008651 73008651 + Nonsense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:73008651G>C ENST00000313375.3 - 16 2440 c.2393C>G c.(2392-2394)tCa>tGa p.S798* MLXIPL_ENST00000414749.2_Nonsense_Mutation_p.S796*|MLXIPL_ENST00000395189.1_Nonsense_Mutation_p.S705*|MLXIPL_ENST00000434326.1_Nonsense_Mutation_p.S704*|MLXIPL_ENST00000354613.1_Nonsense_Mutation_p.S777*|MLXIPL_ENST00000429400.2_Nonsense_Mutation_p.S779* NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 798 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) CCAGGCCAGTGAGGTCTGGCG 0.637000 8 26 0 0 1 0 0 SH3GLB2 56904 broad.mit.edu 37 9 131783434 131783434 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:131783434G>A ENST00000372564.3 - 3 415 c.270C>T c.(268-270)aaC>aaT p.N90N SH3GLB2_ENST00000416629.1_Silent_p.N90N|SH3GLB2_ENST00000372559.1_Silent_p.N90N|SH3GLB2_ENST00000372554.4_Silent_p.N90N|SH3GLB2_ENST00000417224.1_Silent_p.N90N NM_020145.2 NP_064530.1 Q9NR46 SHLB2_HUMAN SH3-domain GRB2-like endophilin B2 90 BAR. filopodium assembly|signal transduction cytoplasm|nucleus cytoskeletal adaptor activity|SH3 domain binding NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1) 12 GCAGCTCCCCGTTGGTGACCC 0.637000 4 11 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129389916 129389916 + Translation_Start_Site SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:129389916G>A ENST00000432054.2 - 0 747 TMCC1_ENST00000329333.5_Silent_p.D77D|TMCC1_ENST00000393238.3_Silent_p.D256D|TMCC1_ENST00000426664.2_Silent_p.D142D O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 CAACGTTGTCGTCCCGGGCTG 0.512000 40 201 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7583509 7583509 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7583509C>T ENST00000379802.3 + 24 6355 c.6014C>T c.(6013-6015)gCt>gTt p.A2005V DSP_ENST00000418664.2_Missense_Mutation_p.A1406V NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2005 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAAGAAGTTGCTTCTGAAATC 0.458000 6 21 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50881790 50881790 + Splice_Site SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:50881790G>C ENST00000313478.7 - 27 4669 c.4388C>G c.(4387-4389)tCc>tGc p.S1463C TRPM7_ENST00000560955.1_Splice_Site_p.S1463C NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1463 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TTTACTTACGGATAGTATTTT 0.264000 9 55 0 0 1 0 0 MARC2 54996 broad.mit.edu 37 1 220921997 220921997 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:220921997C>T ENST00000366913.3 + 1 322 c.124C>T c.(124-126)Cgc>Tgc p.R42C MARC2_ENST00000359316.2_Missense_Mutation_p.R42C NM_017898.3 NP_060368.2 Q969Z3 MOSC2_HUMAN mitochondrial amidoxime reducing component 2 42 mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding CGCCTGGCGCCGCGCATGGCC 0.756000 9 2 0 0 1 0 0 SIX4 51804 broad.mit.edu 37 14 61190185 61190185 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:61190185C>G ENST00000216513.4 - 1 667 c.608G>C c.(607-609)gGa>gCa p.G203A NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 203 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) GTCTACGGCTCCCAGCGGCCG 0.662000 5 10 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3727727 3727727 + Missense_Mutation SNP G G A rs11607340 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:3727727G>A ENST00000324932.7 - 21 3293 c.2873C>T c.(2872-2874)tCt>tTt p.S958F NUP98_ENST00000359171.4_Missense_Mutation_p.S958F|NUP98_ENST00000355260.3_Missense_Mutation_p.S958F NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 975 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TGTTGAGGCAGACACAGGTTC 0.433000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 27 74 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13049486 13049486 + Nonsense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:13049486C>G ENST00000506447.1 + 16 2776 c.2696C>G c.(2695-2697)tCa>tGa p.S899* CEP192_ENST00000430049.2_Nonsense_Mutation_p.S424*|CEP192_ENST00000325971.8_Nonsense_Mutation_p.S303* NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 494 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AAAGCTACCTCAATTTCCACT 0.363000 12 41 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63988079 63988079 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:63988079G>A ENST00000279227.5 + 12 1590 c.1495G>A c.(1495-1497)Gag>Aag p.E499K FERMT3_ENST00000345728.5_Missense_Mutation_p.E495K NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 499 FERM. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 TGCCTCTGCCGAGGGCCTCAA 0.657000 3 14 0 0 1 0 0 TUBG1 7283 broad.mit.edu 37 17 40766868 40766868 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:40766868G>A ENST00000251413.3 + 11 1227 c.1165G>A c.(1165-1167)Gag>Aag p.E389K NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 389 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) CAAGCTCTTCGAGAGAACCTG 0.527000 17 69 0 0 1 0 0 NETO1 81832 broad.mit.edu 37 18 70532046 70532046 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:70532046C>A ENST00000327305.6 - 3 874 c.217G>T c.(217-219)Gaa>Taa p.E73* NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000583169.1_Nonsense_Mutation_p.E73*|NETO1_ENST00000299430.2_Nonsense_Mutation_p.E72*|NETO1_ENST00000397929.1_Nonsense_Mutation_p.E72* NM_138966.3 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 73 CUB 1. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CCCTTACCTTCTATGATGTAG 0.458000 10 35 0.000978159 0.000994032 1 1 0 MEGF11 84465 broad.mit.edu 37 15 66206297 66206297 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:66206297C>T ENST00000409699.2 - 20 2660 c.2488G>A c.(2488-2490)Gag>Aag p.E830K MEGF11_ENST00000395614.1_Missense_Mutation_p.E3K|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.E755K|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000422354.1_Missense_Mutation_p.E830K|MEGF11_ENST00000288745.3_Missense_Mutation_p.E755K A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 830 basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 TTCAGCTCCTCCATCATGAGG 0.612000 5 15 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161119155 161119155 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:161119155C>G ENST00000523217.1 + 8 1247 c.1005C>G c.(1003-1005)ccC>ccG p.P335P GABRA6_ENST00000274545.5_Silent_p.P345P NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 345 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAGCCCCACCCACAGTGACAA 0.433000 TCGA Ovarian(5;0.080) 9 67 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22941482 22941482 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:22941482G>A ENST00000397104.3 - 5 955 c.956C>T c.(955-957)tCa>tTa p.S319L ZNF99_ENST00000596209.1_Missense_Mutation_p.S410L zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGTAAGTTTTGAGGACCACTT 0.373000 16 39 0 0 1 0 0 KPNB1 3837 broad.mit.edu 37 17 45748185 45748185 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:45748185G>C ENST00000290158.4 + 12 1941 c.1534G>C c.(1534-1536)Gag>Cag p.E512Q KPNB1_ENST00000537679.1_Missense_Mutation_p.E296Q|KPNB1_ENST00000540627.1_Missense_Mutation_p.E367Q|KPNB1_ENST00000535458.2_Missense_Mutation_p.E367Q NM_001276453.1|NM_002265.4 NP_001263382.1|NP_002256.2 Q14974 IMB1_HUMAN karyopherin (importin) beta 1 512 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding breast(1)|ovary(1)|pancreas(1)|skin(1) 4 GAAGCTCCTAGAGACTACAGA 0.408000 3 55 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158922810 158922810 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:158922810G>A ENST00000367097.3 + 13 3472 c.2115G>A c.(2113-2115)caG>caA p.Q705Q TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 705 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CCCCCACGCAGAGCATAGGGC 0.567000 13 46 0 0 1 0 0 CRAT 1384 broad.mit.edu 37 9 131864267 131864267 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:131864267C>G ENST00000318080.2 - 6 994 c.700G>C c.(700-702)Gag>Cag p.E234Q CRAT_ENST00000464290.1_5'UTR NM_000755.3|NM_001257363.1 NP_000746|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 234 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) CAGATCTTCTCCAGCTGCACA 0.552000 9 21 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100454857 100454857 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:100454857G>C ENST00000395996.1 + 23 3550 c.3439G>C c.(3439-3441)Gaa>Caa p.E1147Q VPS13B_ENST00000357162.2_Missense_Mutation_p.E1147Q|VPS13B_ENST00000358544.2_Missense_Mutation_p.E1147Q Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1147 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ACCCATCCTTGAAGAAGGTAT 0.348000 5 28 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263621 34263621 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:34263621G>A ENST00000262622.4 + 4 1686 c.928G>A c.(928-930)Gag>Aag p.E310K CHST8_ENST00000434302.1_Missense_Mutation_p.E310K|CHST8_ENST00000438847.3_Missense_Mutation_p.E310K NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) GCGTTTTCCCGAGTTCGTCCA 0.657000 6 32 0 0 1 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4048152 4048152 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:4048152G>A ENST00000322357.4 - 3 1631 c.1353C>T c.(1351-1353)taC>taT p.Y451Y ZBTB7A_ENST00000601588.1_Silent_p.Y451Y NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 451 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) TCTTCAGGTCGTAGTTGTGGG 0.647000 9 44 0 0 1 0 0 ERC1 23085 broad.mit.edu 37 12 1219412 1219412 + Nonsense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:1219412C>T ENST00000397203.2 + 5 1622 c.1216C>T c.(1216-1218)Cag>Tag p.Q406* ERC1_ENST00000546231.2_Nonsense_Mutation_p.Q406*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.Q406*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.Q406*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.Q406*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.Q406*|ERC1_ENST00000536573.2_3'UTR Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 406 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) AGAGGAAATTCAGATGCTGAA 0.383000 4 29 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151845784 151845784 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:151845784C>T ENST00000355193.2 - 53 13617 c.13399G>A c.(13399-13401)Gat>Aat p.D4467N KMT2C_ENST00000262189.6_Missense_Mutation_p.D4410N lysine (K)-specific methyltransferase 2C GTCAATCCATCACCTTCTTCA 0.458000 5 36 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212543806 212543806 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:212543806G>C ENST00000342788.4 - 13 1903 c.1593C>G c.(1591-1593)atC>atG p.I531M ERBB4_ENST00000402597.1_Missense_Mutation_p.I531M|ERBB4_ENST00000436443.1_Missense_Mutation_p.I531M NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 531 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ACTCTATGCAGATCCTTCCTC 0.473000 TSP Lung(8;0.080) 5 12 0 0 1 0 0 PIGW 284098 broad.mit.edu 37 17 34893290 34893290 + Nonsense_Mutation SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:34893290G>T ENST00000592983.1 + 2 920 c.340G>T c.(340-342)Gaa>Taa p.E114* MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Nonsense_Mutation_p.E114* Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan anchor biosynthesis, class W 114 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AAAAATCCTTGAAAAATTCTT 0.423000 28 79 4.22769e-11 4.4827e-11 1 1 0 CCDC83 220047 broad.mit.edu 37 11 85593586 85593586 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:85593586C>T ENST00000280245.4 + 4 723 c.211C>T c.(211-213)Cac>Tac p.H71Y CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000342404.3_Missense_Mutation_p.H71Y|CCDC83_ENST00000376067.1_Missense_Mutation_p.H28Y NM_173556.3 NP_775827.2 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 71 breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) ACAGATTTGGCACATACGGCA 0.388000 16 42 0 0 1 0 0 ISX 91464 broad.mit.edu 37 22 35463282 35463282 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr22:35463282G>C ENST00000308700.6 + 1 1154 c.202G>C c.(202-204)Gaa>Caa p.E68Q ISX_ENST00000404699.2_Missense_Mutation_p.E68Q|RP1-272J12.1_ENST00000448318.4_RNA NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox 68 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 CTCTGGGCTAGAAAAGCCTCC 0.572000 2 1 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60694735 60694735 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:60694735G>C ENST00000005286.4 + 2 313 c.160G>C c.(160-162)Gac>Cac p.D54H TMEM132A_ENST00000453848.2_Missense_Mutation_p.D54H NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 54 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GGAGCTCCTAGACGCCCCTGA 0.612000 14 45 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44377300 44377300 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:44377300C>G ENST00000587539.1 - 3 1065 c.1066G>C c.(1066-1068)Gat>Cat p.D356H ZNF404_ENST00000324394.6_Missense_Mutation_p.D354H NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 356 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) TCCTTACAATCATAGAGTTTC 0.403000 9 27 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95504025 95504025 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:95504025G>A ENST00000297591.5 - 22 4996 c.4921C>T c.(4921-4923)Cag>Tag p.Q1641* KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1641 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TGTTTTCTCTGACGAAAAATA 0.458000 12 60 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109395216 109395216 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:109395216G>C ENST00000370001.3 - 2 339 c.71C>G c.(70-72)tCt>tGt p.S24C AKNAD1_ENST00000369995.3_Missense_Mutation_p.S24C|AKNAD1_ENST00000369994.1_Missense_Mutation_p.S24C|AKNAD1_ENST00000357393.4_Intron NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 24 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 CTTAATCTGAGAGAGGTCCCC 0.423000 6 64 0 0 1 0 0 PARL 55486 broad.mit.edu 37 3 183585733 183585733 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:183585733G>A ENST00000317096.4 - 2 301 c.241C>T c.(241-243)Cct>Tct p.P81S PARL_ENST00000311101.5_Missense_Mutation_p.P81S|PARL_ENST00000435888.1_Missense_Mutation_p.P81S NM_018622.5 NP_061092.3 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like 81 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity p.P81T(1) endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCCACAGGAGGAATCAAAGCA 0.423000 39 84 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30735633 30735633 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:30735633C>T ENST00000262518.4 + 25 5273 c.4888C>T c.(4888-4890)Cca>Tca p.P1630S SRCAP_ENST00000344771.4_Missense_Mutation_p.P1472S|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1568S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1630 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GACTCCGGTTCCAGTTATGGC 0.557000 10 27 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15829309 15829309 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:15829309C>T ENST00000452625.2 - 27 3528 c.3441G>A c.(3439-3441)caG>caA p.Q1147Q MYH11_ENST00000396324.3_Silent_p.Q1147Q|MYH11_ENST00000576790.2_Silent_p.Q1140Q|MYH11_ENST00000300036.5_Silent_p.Q1140Q NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1140 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GGTCTCGCTTCTGCTTTTCAG 0.612000 T CBFB AML 11 70 0 0 1 0 0 KAT7 11143 broad.mit.edu 37 17 47874175 47874175 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:47874175G>C ENST00000259021.4 + 3 507 c.227G>C c.(226-228)aGa>aCa p.R76T KAT7_ENST00000510819.1_Intron|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000509773.1_Missense_Mutation_p.R76T|KAT7_ENST00000424009.2_Missense_Mutation_p.R76T|KAT7_ENST00000503935.2_5'UTR NM_007067.4 NP_008998.1 O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 76 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding TCTACCAGAAGAGTGACCCGT 0.448000 23 78 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114210919 114210919 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:114210919C>T ENST00000408937.3 + 4 690 c.316C>T c.(316-318)Cct>Tct p.P106S FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000393500.3_Intron|FOXP2_ENST00000393494.2_Intron|FOXP2_ENST00000350908.4_Intron|FOXP2_ENST00000360232.4_Intron|FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000393489.3_Intron|FOXP2_ENST00000403559.4_Intron|FOXP2_ENST00000378237.3_Intron|FOXP2_ENST00000390668.3_Missense_Mutation_p.P105S NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 86 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 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 TGATGGGCATCCTCACAACAC 0.398000 17 76 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53209544 53209544 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:53209544C>G ENST00000543227.1 - 6 1038 c.764G>C c.(763-765)gGa>gCa p.G255A ZNF611_ENST00000540744.1_Missense_Mutation_p.G255A|ZNF611_ENST00000453741.2_Missense_Mutation_p.G186A|ZNF611_ENST00000602162.1_Missense_Mutation_p.G186A|ZNF611_ENST00000595798.1_Missense_Mutation_p.G186A|ZNF611_ENST00000319783.1_Missense_Mutation_p.G255A NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TTGTTTGTCTCCTAAATGGGG 0.383000 30 104 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54306146 54306146 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:54306146C>T ENST00000545554.1 + 1 1046 c.1046C>T c.(1045-1047)tCa>tTa p.S349L UNC13C_ENST00000260323.11_Missense_Mutation_p.S349L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S349L Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 349 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATGGGTTTTTCAGATGCACCA 0.383000 3 25 0 0 1 0 0 GPR6 2830 broad.mit.edu 37 6 110301403 110301403 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:110301403G>A ENST00000414000.2 + 3 1372 c.1133G>A c.(1132-1134)tGa>tAa p.*378* GPR6_ENST00000275169.3_Silent_p.*363* P46095 GPR6_HUMAN G protein-coupled receptor 6 0 integral to plasma membrane breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488) BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307) AGCGAGGTCTGAAGGGCTCGC 0.607000 21 65 0 0 1 0 0 DVL2 1856 broad.mit.edu 37 17 7132529 7132529 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:7132529G>C ENST00000005340.5 - 8 1164 c.882C>G c.(880-882)atC>atG p.I294M DVL2_ENST00000575458.1_Missense_Mutation_p.I288M|DVL2_ENST00000574642.1_5'UTR NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 294 PDZ. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 AGCCAATGTAGATGCCTCCGT 0.592000 22 63 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23808778 23808778 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:23808778C>T ENST00000354639.3 + 12 1976 c.1512C>T c.(1510-1512)ttC>ttT p.F504F STK31_ENST00000355870.3_Silent_p.F527F|STK31_ENST00000428484.1_Silent_p.F504F|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.F527F NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 527 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TAGCATGGTTCCAAAGAACCT 0.388000 13 49 0 0 1 0 0 KDM4A 9682 broad.mit.edu 37 1 44137182 44137182 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:44137182C>G ENST00000372396.3 + 11 1504 c.1370C>G c.(1369-1371)tCt>tGt p.S457C NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 457 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 TCAGATTATTCTGACTCCACT 0.453000 13 44 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23810741 23810741 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:23810741G>C ENST00000354639.3 + 14 2226 c.1762G>C c.(1762-1764)Gag>Cag p.E588Q STK31_ENST00000355870.3_Missense_Mutation_p.E611Q|STK31_ENST00000428484.1_Missense_Mutation_p.E588Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E611Q NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 611 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GGACAGTATTGAGGTTTGATT 0.308000 13 51 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139369010 139369010 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:139369010G>A ENST00000313050.7 - 1 3131 c.3058C>T c.(3058-3060)Cag>Tag p.Q1020* SEC16A_ENST00000290037.6_Nonsense_Mutation_p.Q842*|SEC16A_ENST00000431893.2_Nonsense_Mutation_p.Q842*|SEC16A_ENST00000371706.3_Nonsense_Mutation_p.Q842* NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 842 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) ACACTTTGCTGAGAAGCGAGG 0.527000 6 20 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585151 7585151 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7585151C>T ENST00000379802.3 + 24 7997 c.7656C>T c.(7654-7656)ctC>ctT p.L2552L DSP_ENST00000418664.2_Silent_p.L1953L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2552 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CCGGCAGCCTCAGCCTCACTC 0.483000 14 36 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100608830 100608830 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:100608830G>A ENST00000319509.7 + 7 2209 c.2209G>A c.(2209-2211)Gac>Aac p.D737N RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GTCGGGCGTGGACAACGCCAT 0.657000 8 24 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35092728 35092728 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:35092728G>C ENST00000378617.3 - 7 1550 c.1156C>G c.(1156-1158)Cag>Gag p.Q386E PIGO_ENST00000341666.3_Missense_Mutation_p.Q386E|PIGO_ENST00000298004.5_Missense_Mutation_p.Q386E|PIGO_ENST00000361778.2_Missense_Mutation_p.Q386E NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 386 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TGAAGGTCCTGAGTAGCAGCT 0.547000 12 29 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23524111 23524111 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr22:23524111G>C ENST00000305877.8 + 1 1715 c.964G>C c.(964-966)Gag>Cag p.E322Q BCR_ENST00000398512.5_Missense_Mutation_p.E322Q|BCR_ENST00000359540.3_Missense_Mutation_p.E322Q NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 322 Binding to ABL SH2-domain.|Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CCGGAGTTTTGAGGATTGCGG 0.662000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 7 9 0 0 1 0 0 SARDH 1757 broad.mit.edu 37 9 136596520 136596520 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:136596520G>C ENST00000371872.4 - 4 854 c.597C>G c.(595-597)ctC>ctG p.L199L SARDH_ENST00000371867.1_Silent_p.L110L|SARDH_ENST00000298628.5_Silent_p.L199L|SARDH_ENST00000439388.1_Silent_p.L199L|SARDH_ENST00000422262.2_Silent_p.L31L NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 199 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GGGTCCCGTAGAGGTCGTCCA 0.627000 7 26 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98217734 98217734 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:98217734G>C ENST00000284049.3 - 19 2961 c.2812C>G c.(2812-2814)Caa>Gaa p.Q938E NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 938 Helicase C-terminal. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TCCATTCTTTGAATTACAAGA 0.343000 11 57 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38137415 38137415 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:38137415G>C ENST00000308059.6 + 14 2170 c.2149G>C c.(2149-2151)Gag>Cag p.E717Q DLEC1_ENST00000346219.3_Missense_Mutation_p.E717Q|DLEC1_ENST00000452631.2_Missense_Mutation_p.E717Q Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 717 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GATGGTGCTAGAGGAAGTCCC 0.572000 13 37 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94747101 94747101 + Nonsense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:94747101G>C ENST00000399300.2 - 3 1751 c.1538C>G c.(1537-1539)tCa>tGa p.S513* RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Nonsense_Mutation_p.S513* NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 513 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TGGGTCTTTTGAGTCAAATAA 0.428000 14 82 0 0 1 0 0 GATA2 2624 broad.mit.edu 37 3 128199904 128199904 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:128199904G>A ENST00000341105.2 - 6 1732 c.1401C>T c.(1399-1401)ttC>ttT p.F467F GATA2_ENST00000430265.2_Silent_p.F453F|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.F467F NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 467 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) GGGGGTGGCCGAAGGAGAGGC 0.672000 Mis AML(CML blast transformation) 6 9 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17265157 17265157 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:17265157G>A ENST00000595618.1 + 6 1283 c.1131G>A c.(1129-1131)ctG>ctA p.L377L CTD-3032J10.2_ENST00000599360.1_RNA|MYO9B_ENST00000594824.1_Silent_p.L377L|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Silent_p.L377L NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 377 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GGGAGGACCTGAAGCATGACT 0.582000 9 35 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23855641 23855641 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:23855641C>G ENST00000405093.3 - 33 4912 c.4842G>C c.(4840-4842)ctG>ctC p.L1614L MYH6_ENST00000356287.3_Silent_p.L1614L NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1614 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCTTCACCCTCAGGACCTCGT 0.607000 11 54 0 0 1 0 0 SULF2 55959 broad.mit.edu 37 20 46294034 46294034 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr20:46294034C>G ENST00000359930.4 - 14 2757 c.1906G>C c.(1906-1908)Gaa>Caa p.E636Q SULF2_ENST00000484875.1_Missense_Mutation_p.E636Q|SULF2_ENST00000467815.1_Missense_Mutation_p.E636Q|SULF2_ENST00000361612.4_Missense_Mutation_p.E636Q NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 636 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 TGCAGGGTTTCAATCTGAGGG 0.527000 20 76 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170150751 170150751 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:170150751C>G ENST00000263816.3 - 6 844 c.559G>C c.(559-561)Gag>Cag p.E187Q LRP2_ENST00000443831.1_Missense_Mutation_p.E187Q NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 187 LDL-receptor class A 5. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CATGAAAACTCATTGTGCAAG 0.433000 17 34 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36122624 36122624 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr22:36122624C>T ENST00000249044.2 + 3 509 c.509C>T c.(508-510)tCa>tTa p.S170L NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 170 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 CTCATGCTCTCAGCAACTGGG 0.542000 6 66 0 0 1 0 0 YARS2 51067 broad.mit.edu 37 12 32903745 32903745 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:32903745G>C ENST00000324868.8 - 3 1038 c.1011C>G c.(1009-1011)gtC>gtG p.V337V NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 337 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) CTGGCTCTTTGACATGCAGCT 0.433000 11 37 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281042 152281042 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:152281042G>C ENST00000368799.1 - 3 6355 c.6320C>G c.(6319-6321)tCt>tGt p.S2107C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2107 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGGGCGCAGACTGTCCATG 0.567000 Ichthyosis 38 152 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 553855 553855 + Splice_Site SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:553855G>A ENST00000230449.4 - 21 2255 c.2120C>T c.(2119-2121)tCa>tTa p.S707L EXOC2_ENST00000448181.3_Splice_Site_p.S302L NM_018303.5 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 707 exocytosis|protein transport p.S707L(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) CTGACTTACTGAGGTCAAGCT 0.383000 13 44 0 0 1 0 0 CAMKV 79012 broad.mit.edu 37 3 49898242 49898242 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:49898242C>G ENST00000477224.1 - 8 1160 c.682G>C c.(682-684)Gat>Cat p.D228H CAMKV_ENST00000296471.7_Missense_Mutation_p.D200H|CAMKV_ENST00000488336.1_Missense_Mutation_p.D228H|CAMKV_ENST00000463537.1_Missense_Mutation_p.D228H|CAMKV_ENST00000467248.1_Missense_Mutation_p.D153H|CAMKV_ENST00000466940.1_Missense_Mutation_p.D185H Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 228 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TTCTCATAATCATCTTCTTCC 0.498000 19 74 0 0 1 0 0 AGBL2 79841 broad.mit.edu 37 11 47713800 47713800 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:47713800C>G ENST00000525123.1 - 9 988 c.703G>C c.(703-705)Gaa>Caa p.E235Q AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.E235Q|AGBL2_ENST00000528244.1_Missense_Mutation_p.E197Q|AGBL2_ENST00000357610.3_Missense_Mutation_p.E235Q NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 235 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 TAGGAACCTTCTATAGGCACT 0.423000 13 47 0 0 1 0 0 ZRANB3 84083 broad.mit.edu 37 2 135965399 135965399 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:135965399G>C ENST00000401392.1 - 19 2820 c.2608C>G c.(2608-2610)Ctt>Gtt p.L870V ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.L872V|ZRANB3_ENST00000536680.1_Missense_Mutation_p.L870V Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 872 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) CCATCTTCAAGAAGTTTTCTA 0.373000 4 27 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168834378 168834378 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:168834378C>T ENST00000464456.1 - 7 1918 c.718G>A c.(718-720)Gag>Aag p.E240K MECOM_ENST00000264674.3_Missense_Mutation_p.E305K|MECOM_ENST00000460814.1_Missense_Mutation_p.E240K|MECOM_ENST00000472280.1_Missense_Mutation_p.E241K|MECOM_ENST00000468789.1_Missense_Mutation_p.E240K|MECOM_ENST00000433243.2_Missense_Mutation_p.E241K|MECOM_ENST00000494292.1_Missense_Mutation_p.E428K|MECOM_ENST00000392736.3_Missense_Mutation_p.E240K NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TTCTTGCCCTCACAAAACCTC 0.443000 20 130 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77365633 77365633 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:77365633G>C ENST00000451710.3 - 30 5241 c.5004C>G c.(5002-5004)ctC>ctG p.L1668L TRPM6_ENST00000361255.3_Silent_p.L1663L|TRPM6_ENST00000449912.2_Silent_p.L1663L|TRPM6_ENST00000376871.3_Silent_p.L501L|TRPM6_ENST00000376864.4_Silent_p.L1668L|TRPM6_ENST00000360774.1_Silent_p.L1668L|TRPM6_ENST00000376872.3_Silent_p.L619L Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1668 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 AGTTTTTGCTGAGATCCTGAG 0.443000 6 55 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79751510 79751510 + Splice_Site SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:79751510G>T ENST00000338008.5 + 11 3787 c.e11-1 ZFYVE16_ENST00000505560.1_Splice_Site|ZFYVE16_ENST00000510158.1_Splice_Site NM_001284236.1|NM_014733.3 NP_001271165.1|NP_055548 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) CTTATGTATAGCATATCCTGC 0.318000 11 55 0.000978159 0.000994032 1 1 0 UPF3B 65109 broad.mit.edu 37 X 118985779 118985779 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:118985779G>C ENST00000276201.2 - 2 283 c.214C>G c.(214-216)Caa>Gaa p.Q72E UPF3B_ENST00000345865.2_Missense_Mutation_p.Q72E NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 72 Necessary for interaction with UPF2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 GGCATAGGTTGAAGATGTTCC 0.323000 9 9 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124857212 124857212 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:124857212G>C ENST00000529051.1 + 8 1349 c.1090G>C c.(1090-1092)Gaa>Caa p.E364Q CCDC15_ENST00000344762.5_Missense_Mutation_p.E364Q Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 364 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) CCAGGCTGTTGAAATGAAGGT 0.483000 15 73 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48604632 48604632 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:48604632C>T ENST00000342988.3 + 12 1992 c.1454C>T c.(1453-1455)tCa>tTa p.S485L SMAD4_ENST00000588745.1_Missense_Mutation_p.S389L|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.S485L NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 485 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TTAGGTCTGTCAGCTGCTGCT 0.463000 4 37 0 0 1 0 0 TMPRSS5 80975 broad.mit.edu 37 11 113568007 113568007 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:113568007G>A ENST00000299882.5 - 5 610 c.462C>T c.(460-462)ctC>ctT p.L154L TMPRSS5_ENST00000538955.1_Silent_p.L110L|TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000544634.1_Silent_p.L154L|TMPRSS5_ENST00000544476.1_Silent_p.L110L|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000545579.1_Silent_p.L145L NM_030770.2 NP_110397.2 Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 154 SRCR. proteolysis integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502) CCTGTTACCTGAGATGCCCAA 0.617000 11 46 0 0 1 0 0 CDC37 11140 broad.mit.edu 37 19 10506702 10506702 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:10506702C>G ENST00000222005.2 - 2 333 c.280G>C c.(280-282)Gag>Cag p.E94Q NM_007065.3 NP_008996.1 Q16543 CDC37_HUMAN cell division cycle 37 94 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) CTCCGCTCCTCCTTGCGCAGC 0.642000 8 89 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380362 147380362 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:147380362G>A ENST00000240986.4 + 2 333 c.280G>A c.(280-282)Ggg>Agg p.G94R GJA8_ENST00000369235.1_Missense_Mutation_p.G94R NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 94 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) GATGTACGTGGGGCACGCGGT 0.657000 54 48 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153273859 153273859 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:153273859C>T ENST00000263981.5 - 1 264 c.24G>A c.(22-24)ttG>ttA p.L8L FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000296555.5_Intron|FBXW7_ENST00000281708.4_Intron|FBXW7_ENST00000603548.1_Intron NM_018315.4 NP_060785.2 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 0 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGCTCAGTATCAAACCGCTTC 0.458000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 7 14 0 0 1 0 0 ZNF582 147948 broad.mit.edu 37 19 56896385 56896385 + Missense_Mutation SNP T T C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:56896385T>C ENST00000301310.4 - 5 559 c.401A>G c.(400-402)aAt>aGt p.N134S ZNF582_ENST00000586929.1_Missense_Mutation_p.N134S NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) TCTGTCTGGATTTCCCTGTTG 0.393000 22 80 0 0 1 0 0 PAH 5053 broad.mit.edu 37 12 103306618 103306618 + Missense_Mutation SNP G G A rs62642938 TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:103306618G>A ENST00000553106.1 - 2 591 c.119C>T c.(118-120)tCa>tTa p.S40L PAH_ENST00000307000.2_Missense_Mutation_p.S35L|PAH_ENST00000551988.1_5'UTR NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 40 ACT. S -> L (in PKU). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TTCTTTGAGTGAGAAGATCAG 0.373000 15 50 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80681643 80681643 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:80681643C>G ENST00000307624.3 - 2 158 c.130G>C c.(130-132)Gag>Cag p.E44Q ACOT12_ENST00000513751.1_Missense_Mutation_p.E44Q NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 44 Acyl coenzyme A hydrolase 1. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) GCATGTTTCTCAGCTTCAAAA 0.393000 3 19 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98850129 98850129 + RNA SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:98850129G>C ENST00000554295.1 - 0 794 NR_033801.1 GTCAGTGGCAGAGATGATTGC 0.408000 4 21 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119163264 119163264 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:119163264C>G ENST00000296499.5 + 12 2762 c.2359C>G c.(2359-2361)Cta>Gta p.L787V NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 787 Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 ACAGAAGTTTCTAGGAGTCTT 0.303000 24 92 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42263176 42263176 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr22:42263176C>G ENST00000361204.4 + 2 596 c.430C>G c.(430-432)Cag>Gag p.Q144E NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 144 Gln-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 acctcaaactcagctgcaacA 0.542000 7 34 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131926605 131926605 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:131926605C>G ENST00000403834.3 - 14 1579 c.1406G>C c.(1405-1407)aGa>aCa p.R469T MED23_ENST00000540546.1_Missense_Mutation_p.R469T|MED23_ENST00000368068.3_Missense_Mutation_p.R463T|MED23_ENST00000368058.1_Missense_Mutation_p.R469T|MED23_ENST00000368053.4_Missense_Mutation_p.R469T|MED23_ENST00000354577.4_Missense_Mutation_p.R469T|MED23_ENST00000368060.3_Missense_Mutation_p.R463T|MED23_ENST00000539158.1_Intron|MED23_ENST00000545957.1_Missense_Mutation_p.R104T Q9ULK4 MED23_HUMAN mediator complex subunit 23 463 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) ACTTTTATTTCTTAGACTCTG 0.289000 3 21 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10415430 10415430 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:10415430G>A ENST00000226207.5 - 13 1321 c.1227C>T c.(1225-1227)gtC>gtT p.V409V RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 409 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ACTCATTGCCGACCTTGACCC 0.458000 33 187 0 0 1 0 0 COPS3 8533 broad.mit.edu 37 17 17150440 17150440 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:17150440G>A ENST00000539941.2 - 12 1392 c.1184C>T c.(1183-1185)tCa>tTa p.S395L COPS3_ENST00000439936.2_Missense_Mutation_p.S337L|COPS3_ENST00000268717.5_Missense_Mutation_p.S415L NM_001199125.1 NP_001186054.1 Q9UNS2 CSN3_HUMAN COP9 signalosome subunit 3 415 cullin deneddylation|response to light stimulus|signal transduction cytoplasm|signalosome protein binding NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 TTTGTTTCCTGAATCATCTTC 0.428000 9 91 0 0 1 0 0 IGLON5 402665 broad.mit.edu 37 19 51827016 51827016 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:51827016C>G ENST00000270642.8 + 3 259 c.259C>G c.(259-261)Ctg>Gtg p.L87V NM_001101372.1 NP_001094842.1 A6NGN9 IGLO5_HUMAN IgLON family member 5 87 Ig-like C2-type 1. extracellular region large_intestine(5)|lung(6)|prostate(1) 12 GCGGGTGCGGCTGCTCATCAA 0.662000 7 28 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12368508 12368508 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:12368508G>A ENST00000358136.3 + 27 6590 c.6460G>A c.(6460-6462)Gat>Aat p.D2154N VPS13D_ENST00000356315.4_Missense_Mutation_p.D2154N NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2154 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CTGCCTGCTGGATTGCGTTGT 0.463000 15 36 0 0 1 0 0 PIFO 128344 broad.mit.edu 37 1 111892843 111892843 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:111892843G>A ENST00000369738.4 + 5 870 c.505G>A c.(505-507)Gag>Aag p.E169K PIFO_ENST00000369737.4_Missense_Mutation_p.E136K|PIFO_ENST00000484512.1_3'UTR NM_181643.4 NP_857594.2 primary cilia formation CCTAAAAGCTGAGGTAATAAG 0.428000 19 96 0 0 1 0 0 PTPRN 5798 broad.mit.edu 37 2 220172524 220172524 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:220172524G>A ENST00000295718.2 - 2 396 c.156C>T c.(154-156)gtC>gtT p.V52V PTPRN_ENST00000423636.2_5'UTR|PTPRN_ENST00000409251.3_Silent_p.V52V NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 52 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CCTGAATACAGACTTCCAGGT 0.532000 19 61 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179400511 179400511 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:179400511C>T ENST00000589042.1 - 358 101055 c.100831G>A c.(100831-100833)Gaa>Aaa p.E33611K TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24671K|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24546K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24738K|TTN_ENST00000591111.1_Missense_Mutation_p.E31970K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31043K|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31970 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGACCACTTCACCTCGGAGA 0.403000 7 33 0 0 1 0 0 CAMK2A 815 broad.mit.edu 37 5 149618304 149618304 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:149618304G>A ENST00000348628.6 - 14 1657 c.992C>T c.(991-993)tCa>tTa p.S331L CAMK2A_ENST00000398376.3_Missense_Mutation_p.S342L|CAMK2A_ENST00000351010.6_5'UTR NM_015981.3|NM_171825.2 NP_057065.2|NP_741960.1 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II alpha 331 interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTGCTCTCTGAGGATTCCTG 0.597000 4 11 0 0 1 0 0 KRT13 3860 broad.mit.edu 37 17 39659541 39659541 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:39659541C>G ENST00000246635.3 - 3 779 c.733G>C c.(733-735)Gag>Cag p.E245Q KRT13_ENST00000587544.1_Missense_Mutation_p.E245Q|KRT13_ENST00000336861.3_Missense_Mutation_p.E245Q NM_153490.2 NP_705694 P13646 K1C13_HUMAN keratin 13 245 Coil 1B.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) CCGCTCACCTCTTCATGGTTC 0.572000 16 82 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61956290 61956290 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:61956290C>G ENST00000280772.2 - 15 1974 c.1783G>C c.(1783-1785)Ggg>Cgg p.G595R ANK3_ENST00000503366.1_Missense_Mutation_p.G578R|ANK3_ENST00000373827.2_Missense_Mutation_p.G589R NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTTACCTTCCCAGCAGCATCT 0.433000 5 26 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3932366 3932366 + Missense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:3932366C>A ENST00000324333.10 - 5 1705 c.1512G>T c.(1510-1512)agG>agT p.R504S GLIS3_ENST00000381971.3_Missense_Mutation_p.R659S|GLIS3_ENST00000461870.1_5'UTR NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 504 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) TTACCTTTTTCCTTGCTTGTT 0.398000 14 69 2.61681e-11 2.78054e-11 1 1 0 ZNF644 84146 broad.mit.edu 37 1 91406670 91406670 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:91406670C>T ENST00000370440.1 - 3 458 c.241G>A c.(241-243)Gac>Aac p.D81N ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.D81N|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TCAGATTTGTCCTTTGACAGT 0.388000 18 91 0 0 1 0 0 DOLK 22845 broad.mit.edu 37 9 131709109 131709109 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:131709109C>T ENST00000372586.3 - 1 789 c.474G>A c.(472-474)tcG>tcA p.S158S RP11-101E3.5_ENST00000482796.1_Intron NM_014908.3 NP_055723.1 Q9UPQ8 DOLK_HUMAN dolichol kinase 158 dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 11 CCACGCTCAACGAGTGCTTCA 0.532000 8 19 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100771753 100771753 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:100771753C>T ENST00000223095.4 + 2 236 c.79C>T c.(79-81)Ccc>Tcc p.P27S SERPINE1_ENST00000445463.2_Missense_Mutation_p.P27S NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 27 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) TGTGCACCATCCCCCATCCTA 0.607000 9 31 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176671771 176671771 + Missense_Mutation SNP T T G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:176671771T>G ENST00000367662.3 + 9 4429 c.3265T>G c.(3265-3267)Tac>Gac p.Y1089D NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1089 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GATGTATCAGTACCAAGTTCT 0.512000 30 27 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34067402 34067402 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr21:34067402C>T ENST00000382499.2 - 5 786 c.787G>A c.(787-789)Gat>Aat p.D263N SYNJ1_ENST00000357345.3_Missense_Mutation_p.D224N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D224N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.D263N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D224N NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 224 SAC. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 ACATGACCATCATCATTTGTT 0.353000 31 58 0 0 1 0 0 MTMR12 54545 broad.mit.edu 37 5 32276800 32276800 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:32276800G>A ENST00000382142.3 - 2 300 c.130C>T c.(130-132)Cac>Tac p.H44Y MTMR12_ENST00000280285.5_Missense_Mutation_p.H44Y|MTMR12_ENST00000264934.5_Missense_Mutation_p.H44Y NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 44 cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GGCAACAAGTGAAGAGTTACT 0.353000 3 38 0 0 1 0 0 HAUS6 54801 broad.mit.edu 37 9 19058406 19058406 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:19058406G>C ENST00000380502.3 - 16 2826 c.2359C>G c.(2359-2361)Cta>Gta p.L787V HAUS6_ENST00000380496.1_Missense_Mutation_p.L651V NM_001270890.1|NM_017645.4 NP_001257819.1|NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 787 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle p.L787V(1) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTAAAACTTAGATGACCAACT 0.383000 11 36 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123227107 123227107 + Nonsense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:123227107C>T ENST00000264501.4 + 57 10121 c.9748C>T c.(9748-9750)Cga>Tga p.R3250* KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R3250*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.R3250* Q2LD37 K1109_HUMAN KIAA1109 3250 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AAATGCCCTCCGAGAAGAAAT 0.358000 6 88 0 0 1 0 0 IGFBP1 3484 broad.mit.edu 37 7 45930194 45930194 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:45930194G>A ENST00000275525.3 + 2 693 c.397G>A c.(397-399)Gag>Aag p.E133K IGFBP1_ENST00000457280.1_Missense_Mutation_p.E133K|IGFBP1_ENST00000468955.1_Missense_Mutation_p.E133K NM_000596.2 NP_000587.1 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 133 extracellular space insulin-like growth factor binding large_intestine(2)|lung(4) 6 AACTGAGGAGGAGCTCCTGGA 0.537000 OREG0018048 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 46 0 0 1 0 0 WASF1 8936 broad.mit.edu 37 6 110421781 110421781 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:110421781C>T ENST00000392589.1 - 11 2460 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K WASF1_ENST00000392588.1_Missense_Mutation_p.E542K|WASF1_ENST00000359451.2_Missense_Mutation_p.E542K|WASF1_ENST00000392587.2_Missense_Mutation_p.E542K|WASF1_ENST00000392586.1_Missense_Mutation_p.E542K NM_003931.2 NP_003922.1 Q92558 WASF1_HUMAN WAS protein family, member 1 542 actin filament polymerization|cellular component movement actin cytoskeleton actin binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) TCACTATATTCAACAGCAATA 0.388000 9 38 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72026239 72026239 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:72026239G>A ENST00000378743.3 - 15 3231 c.2873C>T c.(2872-2874)tCa>tTa p.S958L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 958 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TAGTTCTGCTGAATGCTTTCT 0.363000 5 52 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70281184 70281184 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:70281184G>C ENST00000301843.8 + 18 1775 c.1569G>C c.(1567-1569)gaG>gaC p.E523D CTTN_ENST00000538675.1_Missense_Mutation_p.E207D|CTTN_ENST00000346329.3_Missense_Mutation_p.E486D|CTTN_ENST00000376561.3_Missense_Mutation_p.E486D NM_005231.3 NP_005222.2 Q14247 SRC8_HUMAN cortactin 523 SH3. cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) CCAACATCGAGATGATTGACG 0.592000 18 52 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122825795 122825795 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:122825795C>G ENST00000358808.2 - 10 2077 c.1923G>C c.(1921-1923)gaG>gaC p.E641D CLIP1_ENST00000361654.4_Missense_Mutation_p.E606D|CLIP1_ENST00000545889.1_Missense_Mutation_p.E342D|CLIP1_ENST00000537178.1_Missense_Mutation_p.E606D|CLIP1_ENST00000540338.1_Missense_Mutation_p.E652D|CLIP1_ENST00000302528.7_Missense_Mutation_p.E641D NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 652 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) ATTCTGCCGTCTCTGTTCCAA 0.433000 14 80 0 0 1 0 0 GPR137 56834 broad.mit.edu 37 11 64054107 64054107 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:64054107C>T ENST00000539851.1 + 2 578 c.111C>T c.(109-111)ctC>ctT p.L37L GPR137_ENST00000411458.1_Silent_p.L95L|GPR137_ENST00000377702.4_Silent_p.L37L|GPR137_ENST00000438980.2_Silent_p.L37L|GPR137_ENST00000313074.3_Silent_p.L37L NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 37 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 ATGCCCTGCTCTTCTTCTCCG 0.637000 19 67 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47990230 47990230 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr20:47990230C>T ENST00000371741.4 - 2 2033 c.1867G>A c.(1867-1869)Gaa>Aaa p.E623K NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 623 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CAGCCCACTTCTGGGGCTGTG 0.592000 11 20 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118609486 118609486 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:118609486C>T ENST00000336338.5 - 18 2487 c.2422G>A c.(2422-2424)Gat>Aat p.D808N NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 808 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TAGTAAGAATCAACACACCTA 0.363000 14 44 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141116408 141116408 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:141116408C>T ENST00000389484.3 - 73 12210 c.11239G>A c.(11239-11241)Gat>Aat p.D3747N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3747 LDL-receptor class A 31. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGATCTTCATCTGAATTGTCA 0.388000 TSP Lung(27;0.18) 15 51 0 0 1 0 0 NRROS 375387 broad.mit.edu 37 3 196387289 196387289 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:196387289C>G ENST00000328557.4 + 3 978 c.775C>G c.(775-777)Cac>Gac p.H259D NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species GGACCTGTCTCACAACCAGCT 0.627000 5 69 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240256741 240256741 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:240256741G>C ENST00000319653.9 + 1 1562 c.1332G>C c.(1330-1332)aaG>aaC p.K444N NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 444 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCAGGATCAAGAGGCGGCCGG 0.687000 13 52 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37665798 37665798 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr21:37665798G>C ENST00000399151.3 + 37 6911 c.6826G>C c.(6826-6828)Gat>Cat p.D2276H NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 2276 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TCCTGTCACAGATAGCCCAAG 0.413000 17 39 0 0 1 0 0 IFNW1 3467 broad.mit.edu 37 9 21141551 21141551 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:21141551G>A ENST00000380229.2 - 1 593 c.19C>T c.(19-21)Cta>Tta p.L7L NM_002177.1 NP_002168.1 P05000 IFNW1_HUMAN interferon, omega 1 7 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GCTGCCAGTAGAGGGAACAGG 0.522000 7 49 0 0 1 0 0 PPIF 10105 broad.mit.edu 37 10 81113558 81113558 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:81113558C>G ENST00000225174.3 + 6 655 c.584C>G c.(583-585)tCc>tGc p.S195C PPIF_ENST00000394579.3_3'UTR NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F 195 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) GGGAGGACATCCAAGAAGATT 0.532000 9 23 0 0 1 0 0 CDRT1 374286 broad.mit.edu 37 17 15522668 15522668 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:15522668C>G ENST00000395906.3 - 1 158 c.159G>C c.(157-159)caG>caC p.Q53H RP11-385D13.1_ENST00000455584.2_Intron NM_006382.3 NP_006373.2 O95170 CDRT1_HUMAN CMT1A duplicated region transcript 1 53 endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541) GAAACCTCCTCTGTGATATGT 0.428000 5 146 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17319020 17319020 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:17319020C>G ENST00000452699.1 - 17 1980 c.1791G>C c.(1789-1791)gtG>gtC p.V597V ATP13A2_ENST00000326735.8_Silent_p.V602V|ATP13A2_ENST00000341676.5_Silent_p.V597V|RP1-37C10.3_ENST00000446261.1_RNA NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 602 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) GGGGTCTCATCACTGCCAAGA 0.652000 20 84 0 0 1 0 0 HIST1H3I 8354 broad.mit.edu 37 6 27839706 27839706 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:27839706G>A ENST00000328488.2 - 1 393 c.388C>T c.(388-390)Cgc>Tgc p.R130C NM_003533.2 NP_003524.1 P68431 H31_HUMAN histone cluster 1, H3i 130 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCTCGGATGCGGCGCGCAAGC 0.522000 16 114 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37734862 37734862 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:37734862G>A ENST00000330843.4 - 2 591 c.579C>T c.(577-579)atC>atT p.I193I RAB11FIP1_ENST00000524118.1_Silent_p.I45I|RAB11FIP1_ENST00000522727.1_Silent_p.I45I|RAB11FIP1_ENST00000287263.4_Silent_p.I193I NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 193 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TCGTGCTAGGGATGATGGCGG 0.443000 26 90 0 0 1 0 0 FLVCR2 55640 broad.mit.edu 37 14 76045651 76045651 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:76045651C>G ENST00000238667.4 + 1 692 c.336C>G c.(334-336)ttC>ttG p.F112L AC007182.6_ENST00000455232.1_RNA NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 112 NIF -> I (in PVHH). transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) ATAACATCTTCATGCACTTCT 0.547000 9 45 0 0 1 0 0 GRM5 2915 broad.mit.edu 37 11 88300897 88300897 + Missense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:88300897C>A ENST00000418177.2 - 8 2321 c.1954G>T c.(1954-1956)Ggt>Tgt p.G652C GRM5_ENST00000305432.5_Missense_Mutation_p.G652C|GRM5_ENST00000393297.1_Missense_Mutation_p.G652C|GRM5_ENST00000305447.4_Missense_Mutation_p.G652C|GRM5_ENST00000455756.2_Missense_Mutation_p.G652C P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 652 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GGGGAGAGACCAATGCCAATT 0.488000 9 17 7.48243e-07 7.74524e-07 1 1 0 GPATCH3 63906 broad.mit.edu 37 1 27220757 27220757 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:27220757C>G ENST00000361720.5 - 3 1044 c.1021G>C c.(1021-1023)Gat>Cat p.D341H NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 341 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) AACTGGGCATCAGTATAAAAC 0.572000 6 67 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67915076 67915076 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:67915076G>C ENST00000358933.5 + 19 2868 c.2629G>C c.(2629-2631)Gag>Cag p.E877Q NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 877 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) TGCCAGTGCTGAGCAAAGGTG 0.597000 3 36 0 0 1 0 0 PLA2G2A 5320 broad.mit.edu 37 1 20304519 20304519 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:20304519C>G ENST00000375111.3 - 5 552 c.281G>C c.(280-282)aGa>aCa p.R94T PLA2G2A_ENST00000400520.3_Missense_Mutation_p.R94T|PLA2G2A_ENST00000496748.1_5'UTR NM_000300.3|NM_001161727.1 NP_000291.1|NP_001155199.1 P14555 PA2GA_HUMAN phospholipase A2, group IIA (platelets, synovial fluid) 94 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding central_nervous_system(1)|lung(6)|prostate(1)|stomach(1) 9 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ACAGGTGATTCTGCTCCCCGA 0.507000 3 46 0 0 1 0 0 EFHC2 80258 broad.mit.edu 37 X 44089008 44089008 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chrX:44089008G>A ENST00000420999.1 - 11 1721 c.1638C>T c.(1636-1638)ctC>ctT p.L546L NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 546 calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 GGGCAAGTTTGAGGTTACTGA 0.408000 8 29 0 0 1 0 0 ZNF24 7572 broad.mit.edu 37 18 32917690 32917690 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:32917690C>T ENST00000261332.6 - 4 792 c.613G>A c.(613-615)Gag>Aag p.E205K ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Missense_Mutation_p.E205K NM_006965.2 NP_008896.2 P17028 ZNF24_HUMAN zinc finger protein 24 205 myelination|negative regulation of transcription, DNA-dependent|viral reproduction nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 15 GAAGGAAGCTCCTGCTTTGGA 0.388000 5 80 0 0 1 0 0 OIT3 170392 broad.mit.edu 37 10 74660207 74660207 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:74660207G>A ENST00000334011.5 + 3 727 c.509G>A c.(508-510)gGa>gAa p.G170E NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 170 nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) TGCGCTCCAGGAACTGTGCTA 0.453000 5 13 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361310 70361310 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:70361310G>A ENST00000305107.6 - 1 316 c.270C>T c.(268-270)atC>atT p.I90I UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Silent_p.I90I|UGT2B4_ENST00000381096.3_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 90 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CCAGCTGCTTGATAATATCCT 0.348000 4 24 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100364724 100364724 + RNA SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:100364724G>C ENST00000542585.1 + 0 4852 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCTATGTCCTGACCCGGCCTT 0.617000 19 24 0 0 1 0 0 RHBDF2 79651 broad.mit.edu 37 17 74468785 74468785 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:74468785G>A ENST00000591885.1 - 18 2597 c.2047C>T c.(2047-2049)Ctc>Ttc p.L683F RHBDF2_ENST00000389760.4_Missense_Mutation_p.L683F|RHBDF2_ENST00000313080.4_Missense_Mutation_p.L712F Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 712 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 CGGTATGGGAGAAAGATGGCA 0.612000 8 22 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91630939 91630939 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:91630939G>C ENST00000359028.2 + 9 1969 c.1744G>C c.(1744-1746)Gat>Cat p.D582H AKAP9_ENST00000356239.3_Missense_Mutation_p.D570H|AKAP9_ENST00000358100.2_Missense_Mutation_p.D582H Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 582 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TACAGTGGAAGATTTGAAAGC 0.343000 T BRAF papillary thyroid 9 30 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97916829 97916829 + RNA SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:97916829G>A ENST00000534948.1 + 0 1607 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) GAGAGCTTCAGAAGCACCTTC 0.368000 19 32 0 0 1 0 0 SNX25 83891 broad.mit.edu 37 4 186180201 186180201 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:186180201G>C ENST00000504273.1 + 3 516 c.222G>C c.(220-222)ctG>ctC p.L74L SNX25_ENST00000264694.8_Silent_p.L74L Q9H3E2 SNX25_HUMAN sorting nexin 25 74 PXA. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) TCTGTGACCTGAAAGCTGCCA 0.393000 12 58 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100377964 100377964 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:100377964G>A ENST00000547776.2 - 1 51 c.52C>T c.(52-54)Ctg>Ttg p.L18L ANKS1B_ENST00000547010.1_5'UTR|ANKS1B_ENST00000329257.7_Silent_p.L18L NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 18 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTCTCCACCAGAGCCACATTT 0.622000 5 19 0 0 1 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161018599 161018599 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:161018599C>T ENST00000368013.3 - 12 2532 c.2212G>A c.(2212-2214)Gga>Aga p.G738R ARHGAP30_ENST00000368015.1_Missense_Mutation_p.G561R|ARHGAP30_ENST00000368016.3_Intron NM_001025598.1|NM_181720.2 NP_001020769.1|NP_859071.2 Q7Z6I6 RHG30_HUMAN Rho GTPase activating protein 30 738 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TCATCTCCTCCTGGTTCCTCC 0.478000 25 149 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79272977 79272977 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr15:79272977C>G ENST00000419573.3 - 25 3801 c.3527G>C c.(3526-3528)aGa>aCa p.R1176T RASGRF1_ENST00000394745.3_Missense_Mutation_p.R392T|RP11-16K12.1_ENST00000316148.4_RNA|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R1160T|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 1178 Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CAGAGCTTCTCTGAGATTCTT 0.428000 10 48 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24043488 24043488 + Missense_Mutation SNP A A G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:24043488A>G ENST00000303531.7 + 4 472 c.320A>G c.(319-321)cAc>cGc p.H107R PRKCB_ENST00000321728.7_Missense_Mutation_p.H107R NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 107 apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) TTTAAGATCCACACGTACTCC 0.512000 5 27 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065727 9065727 + Nonsense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:9065727G>C ENST00000397910.4 - 3 21922 c.21719C>G c.(21718-21720)tCa>tGa p.S7240* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7242 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAGGAAATTGACTCTTTCTG 0.468000 44 104 0 0 1 0 0 MRC1 4360 broad.mit.edu 37 10 17949613 17949613 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:17949613C>G ENST00000331429.2 + 28 4080 c.3977C>G c.(3976-3978)tCt>tGt p.S1326C breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GGAGATCCCTCTGGTGAACGG 0.398000 9 40 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77386741 77386741 + Silent SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:77386741G>T ENST00000451710.3 - 25 3651 c.3414C>A c.(3412-3414)ctC>ctA p.L1138L TRPM6_ENST00000361255.3_Silent_p.L1133L|TRPM6_ENST00000449912.2_Silent_p.L1133L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.L1138L|TRPM6_ENST00000360774.1_Silent_p.L1138L|TRPM6_ENST00000376872.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1138 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CCTCCTTACTGAGGTAGAGTT 0.373000 18 91 1.01871e-10 1.07561e-10 1 1 0 PCDHB8 56128 broad.mit.edu 37 5 140559515 140559515 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:140559515C>T ENST00000239444.2 + 1 2145 c.1900C>T c.(1900-1902)Cgc>Tgc p.R634C NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 634 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGAGCGAGCGCGACGCGGC 0.692000 15 36 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22671972 22671972 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:22671972C>T ENST00000361524.3 - 6 3880 c.3732G>A c.(3730-3732)ctG>ctA p.L1244L ZNF521_ENST00000584787.1_Silent_p.L1024L|ZNF521_ENST00000538137.2_Silent_p.L1244L NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1244 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGTGCTCTATCAGGTGGCACT 0.493000 T PAX5 ALL 6 34 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179546350 179546350 + Silent SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:179546350G>T ENST00000393371.2 - 7 1199 c.903C>A c.(901-903)atC>atA p.I301I RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Silent_p.I301I|RASGEF1C_ENST00000522500.1_Silent_p.I150I Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 301 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTCACAGATGATGGCCATGA 0.642000 14 32 1.67942e-08 1.76207e-08 1 1 0 VCAN 1462 broad.mit.edu 37 5 82835730 82835730 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:82835730G>A ENST00000265077.3 + 8 7473 c.6908G>A c.(6907-6909)aGa>aAa p.R2303K VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.R1316K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2303 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GACTTTAACAGAATGGAAAAT 0.358000 8 48 0 0 1 0 0 BRD2 6046 broad.mit.edu 37 6 32942477 32942477 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:32942477C>G ENST00000395289.2 + 3 1869 c.268C>G c.(268-270)Ctg>Gtg p.L90V BRD2_ENST00000449085.2_Missense_Mutation_p.L43V|BRD2_ENST00000395287.1_Missense_Mutation_p.L90V|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000374825.4_Missense_Mutation_p.L90V|BRD2_ENST00000374831.4_Missense_Mutation_p.L90V P25440 BRD2_HUMAN bromodomain containing 2 90 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 GATGAAGGCTCTGTGGAAACA 0.562000 5 17 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80681642 80681642 + Missense_Mutation SNP T T A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:80681642T>A ENST00000307624.3 - 2 159 c.131A>T c.(130-132)gAg>gTg p.E44V ACOT12_ENST00000513751.1_Missense_Mutation_p.E44V NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 44 Acyl coenzyme A hydrolase 1. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) AGCATGTTTCTCAGCTTCAAA 0.398000 3 19 0 0 1 0 0 SWT1 54823 broad.mit.edu 37 1 185175868 185175868 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:185175868G>C ENST00000367500.4 + 13 2110 c.1945G>C c.(1945-1947)Gag>Cag p.E649Q SWT1_ENST00000367501.3_Missense_Mutation_p.E649Q NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 649 breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 TTTAACTATTGAGAGCCTATA 0.338000 4 43 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77221328 77221328 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr18:77221328G>A ENST00000253506.5 + 7 2290 c.1921G>A c.(1921-1923)Gag>Aag p.E641K NFATC1_ENST00000592223.1_Missense_Mutation_p.E628K|NFATC1_ENST00000587635.1_Silent_p.G612G|NFATC1_ENST00000545796.1_Missense_Mutation_p.E169K|NFATC1_ENST00000542384.1_Missense_Mutation_p.E641K|NFATC1_ENST00000427363.2_Missense_Mutation_p.E641K|NFATC1_ENST00000591814.1_Missense_Mutation_p.E641K|NFATC1_ENST00000329101.4_Missense_Mutation_p.E628K|NFATC1_ENST00000586434.1_Missense_Mutation_p.E628K|NFATC1_ENST00000397790.2_Missense_Mutation_p.E169K|NFATC1_ENST00000318065.5_Missense_Mutation_p.E628K NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 641 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CCATGTCTGGGAGATGGAAGC 0.622000 5 38 0 0 1 0 0 TMEM45B 120224 broad.mit.edu 37 11 129725682 129725682 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:129725682C>T ENST00000281441.3 + 4 553 c.465C>T c.(463-465)ttC>ttT p.F155F TMEM45B_ENST00000524567.1_Silent_p.F155F NM_138788.3 NP_620143.1 Q96B21 TM45B_HUMAN transmembrane protein 45B 155 integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) ATGCTCTGTTCGGAGGGTGTG 0.532000 6 89 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13138005 13138005 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:13138005C>G ENST00000319217.7 - 29 4398 c.4151G>C c.(4150-4152)gGa>gCa p.G1384A MPDZ_ENST00000536827.1_Missense_Mutation_p.G1351A|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1351A|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000538841.1_Missense_Mutation_p.G243A|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1384A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1384A|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1384A|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1398A NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1384 PDZ 8. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TCCTGCAGCTCCATTTGGATC 0.403000 4 18 0 0 1 0 0 ANAPC4 29945 broad.mit.edu 37 4 25391798 25391798 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:25391798G>C ENST00000315368.3 + 8 698 c.556G>C c.(556-558)Gag>Cag p.E186Q ANAPC4_ENST00000510092.1_Missense_Mutation_p.E186Q NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 186 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity p.E186*(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) TGGATTTATTGAGCTTTATGC 0.338000 13 38 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48920205 48920205 + Nonsense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:48920205C>G ENST00000310194.1 + 1 791 c.791C>G c.(790-792)tCa>tGa p.S264* OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 ATGCCAAACTCAGGTTCCCCC 0.498000 7 56 0 0 1 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55046971 55046971 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:55046971G>A ENST00000335056.3 + 4 554 c.516G>A c.(514-516)ggG>ggA p.G172G KIR3DX1_ENST00000482404.1_3'UTR endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) TGGAGGCTGGGATCCATTACG 0.527000 7 31 0 0 1 0 0 FAM47E-STBD1 100631383 broad.mit.edu 37 4 77230462 77230462 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:77230462C>G ENST00000237642.6 + 2 1130 c.386C>G c.(385-387)tCt>tGt p.S129C FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_5'UTR NM_003943.4 NP_003934.1 CCAGCTACCTCTGAGACCAGT 0.438000 6 26 0 0 1 0 0 TP73 7161 broad.mit.edu 37 1 3624168 3624168 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:3624168C>T ENST00000378295.4 + 4 397 c.242C>T c.(241-243)tCg>tTg p.S81L TP73_ENST00000603362.1_Missense_Mutation_p.S81L|TP73_ENST00000378288.4_Missense_Mutation_p.S32L|TP73_ENST00000378285.1_Missense_Mutation_p.S32L|TP73_ENST00000604479.1_Missense_Mutation_p.S81L|TP73_ENST00000346387.4_Missense_Mutation_p.S81L|TP73_ENST00000378280.1_Missense_Mutation_p.S32L|TP73_ENST00000354437.4_Missense_Mutation_p.S81L|TP73_ENST00000378290.4_Missense_Mutation_p.S10L|TP73_ENST00000604074.1_Missense_Mutation_p.S81L|TP73_ENST00000357733.3_Missense_Mutation_p.S81L NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 81 cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CGCGCGGCCTCGGCCAGCCCC 0.677000 11 65 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21238404 21238404 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:21238404C>A ENST00000233242.1 - 22 3473 c.3346G>T c.(3346-3348)Gaa>Taa p.E1116* NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 1116 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) TTTCTTTCTTCCTTTGTGTCA 0.433000 9 26 3.07112e-06 3.17243e-06 1 1 0 ZNF18 7566 broad.mit.edu 37 17 11886701 11886701 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:11886701C>G ENST00000322748.3 - 8 1379 c.775G>C c.(775-777)Gac>Cac p.D259H ZNF18_ENST00000454073.3_Missense_Mutation_p.D258H|ZNF18_ENST00000580306.2_Missense_Mutation_p.D259H NM_144680.2 NP_653281.2 P17022 ZNF18_HUMAN zinc finger protein 18 259 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) TTAGTCAGGTCAGATTTGGGA 0.453000 10 51 0 0 1 0 0 SGSM3 27352 broad.mit.edu 37 22 40801808 40801808 + Nonsense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr22:40801808C>G ENST00000248929.9 + 8 963 c.774C>G c.(772-774)taC>taG p.Y258* SGSM3_ENST00000454798.2_Nonsense_Mutation_p.Y191* NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 258 Rab-GAP TBC. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 TTGTCCAGTACCTGCCTCGCC 0.637000 20 30 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152404175 152404175 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:152404175G>C ENST00000397345.3 - 132 20437 c.20235C>G c.(20233-20235)gtC>gtG p.V6745V NEB_ENST00000172853.10_Silent_p.V5044V|NEB_ENST00000409198.1_Silent_p.V5044V|NEB_ENST00000603639.1_Silent_p.V6745V|NEB_ENST00000427231.2_Silent_p.V6745V|NEB_ENST00000604864.1_Silent_p.V6745V NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 5044 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GTGTCTTCTTGACTTGGCGGA 0.428000 6 11 0 0 1 0 0 IFNW1 3467 broad.mit.edu 37 9 21141383 21141383 + Nonsense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:21141383G>A ENST00000380229.2 - 1 761 c.187C>T c.(187-189)Cag>Tag p.Q63* NM_002177.1 NP_002168.1 P05000 IFNW1_HUMAN interferon, omega 1 63 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ACCATCTCCTGGGGGAACCTG 0.527000 10 64 0 0 1 0 0 CA2 760 broad.mit.edu 37 8 86392977 86392977 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:86392977C>G ENST00000285379.5 + 7 972 c.742C>G c.(742-744)Cag>Gag p.Q248E NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 248 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) GCGCCCAGCTCAGCCACTGAA 0.428000 10 20 0 0 1 0 0 TESK1 7016 broad.mit.edu 37 9 35606242 35606242 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:35606242G>C ENST00000336395.5 + 3 600 c.350G>C c.(349-351)gGa>gCa p.G117A TESK1_ENST00000498522.1_3'UTR NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 117 Protein kinase. cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGGTTCATGGGAGTCTGTGTG 0.557000 9 42 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62972277 62972277 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:62972277G>C ENST00000393630.3 + 32 4961 c.4570G>C c.(4570-4572)Gat>Cat p.D1524H MON2_ENST00000280379.6_Missense_Mutation_p.D1524H|MON2_ENST00000393629.2_Missense_Mutation_p.D1517H|MON2_ENST00000552738.1_Missense_Mutation_p.D1494H|MON2_ENST00000393632.2_Missense_Mutation_p.D1523H|MON2_ENST00000546600.1_Missense_Mutation_p.D1523H NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 1524 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TGAAAATATTGATGTCGAGGT 0.284000 4 26 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37733772 37733772 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr9:37733772C>T ENST00000539465.1 + 12 1761 c.1168C>T c.(1168-1170)Ctc>Ttc p.L390F FRMPD1_ENST00000536622.1_Missense_Mutation_p.L212F|FRMPD1_ENST00000541302.1_Missense_Mutation_p.L259F|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.L390F Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 390 FERM. cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) TCTACAGATCCTCGGAGAACT 0.358000 11 58 0 0 1 0 0 TMEM115 11070 broad.mit.edu 37 3 50396206 50396206 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:50396206C>A ENST00000266025.3 - 1 835 c.289G>T c.(289-291)Gag>Tag p.E97* XXcos-LUCA11.5_ENST00000606589.1_Intron NM_007024.4 NP_008955.1 Q12893 TM115_HUMAN transmembrane protein 115 97 negative regulation of cell proliferation Golgi apparatus|integral to membrane|nucleus breast(2)|endometrium(1)|lung(1)|prostate(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) ATGAGCAGCTCCAAGGCCCCC 0.612000 15 43 5.03518e-11 5.32762e-11 1 1 0 STK38L 23012 broad.mit.edu 37 12 27467992 27467992 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:27467992G>C ENST00000389032.3 + 8 886 c.717G>C c.(715-717)aaG>aaC p.K239N STK38L_ENST00000539577.1_Missense_Mutation_p.K146N NM_015000.3 NP_055815.1 Q9Y2H1 ST38L_HUMAN serine/threonine kinase 38 like 239 Protein kinase. intracellular protein kinase cascade|regulation of cellular component organization actin cytoskeleton|cytoplasm actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 Colorectal(261;0.0847) CGGGATTAAAGAAAGCTCACA 0.323000 15 38 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180048837 180048837 + Silent SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:180048837G>C ENST00000261937.6 - 13 1803 c.1725C>G c.(1723-1725)ctC>ctG p.L575L FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.L575L|FLT4_ENST00000502649.1_Silent_p.L575L NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 575 Ig-like C2-type 6. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GGCAGCTCAGGAGCACCGGCT 0.632000 15 44 0 0 1 0 0 AVIL 10677 broad.mit.edu 37 12 58200272 58200272 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:58200272G>A ENST00000537081.1 - 13 1520 c.1521C>T c.(1519-1521)ctC>ctT p.L507L TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Silent_p.L514L|AVIL_ENST00000550083.1_5'UTR O75366 AVIL_HUMAN advillin 514 Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6) 32 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GAATTTGGAAGAGTCTTACTG 0.488000 10 45 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7584878 7584878 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7584878C>T ENST00000379802.3 + 24 7724 c.7383C>T c.(7381-7383)ctC>ctT p.L2461L DSP_ENST00000418664.2_Silent_p.L1862L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2461 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGAATACCCTCAGGAAGCGTA 0.413000 14 49 0 0 1 0 0 STK17A 9263 broad.mit.edu 37 7 43659295 43659295 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr7:43659295G>A ENST00000319357.5 + 4 843 c.664G>A c.(664-666)Gaa>Aaa p.E222K STK17A_ENST00000462448.1_3'UTR NM_004760.2 NP_004751.2 Q9UEE5 ST17A_HUMAN serine/threonine kinase 17a 222 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 AGAGCTCCGAGAAATTATGGG 0.408000 15 59 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32513513 32513513 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr21:32513513C>G ENST00000286827.3 - 23 4168 c.3697G>C c.(3697-3699)Gag>Cag p.E1233Q TIAM1_ENST00000541036.1_Missense_Mutation_p.E1173Q NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1233 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 TTCTGCATCTCATTGATGTGA 0.473000 4 15 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77369704 77369704 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:77369704C>T ENST00000282849.5 - 12 2226 c.1808G>A c.(1807-1809)cGg>cAg p.R603Q NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 603 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ACCACATGTCCGGGAACATTC 0.577000 17 107 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76525703 76525703 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:76525703C>T ENST00000389840.5 - 22 3482 c.3358G>A c.(3358-3360)Gat>Aat p.D1120N DNAH17_ENST00000585328.1_Missense_Mutation_p.D1117N dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACAAGCCCATCATAGTCCCCC 0.557000 29 45 0 0 1 0 0 TRAV27 28655 broad.mit.edu 37 14 22616478 22616478 + RNA SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:22616478G>C ENST00000390457.2 + 0 316 GTGGAGAAGTGAAGAAGCTGA 0.502000 3 31 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77759426 77759426 + Nonsense_Mutation SNP C C A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr13:77759426C>A ENST00000407578.2 - 32 4797 c.4531G>T c.(4531-4533)Gaa>Taa p.E1511* MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.E1473*|MYCBP2_ENST00000544440.2_Nonsense_Mutation_p.E1473* NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TCAACTCCTTCTGATAAAATT 0.378000 20 79 5.03518e-11 5.32762e-11 1 1 0 ZEB2 9839 broad.mit.edu 37 2 145147383 145147383 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:145147383C>G ENST00000558170.2 - 10 4464 c.3280G>C c.(3280-3282)Gag>Cag p.E1094Q ZEB2_ENST00000303660.4_Missense_Mutation_p.E1094Q|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1070Q|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1094Q NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1094 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding p.E1094K(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TCGCGCGCCTCGCGCTCCGCC 0.617000 15 49 0 0 1 0 0 HPS6 79803 broad.mit.edu 37 10 103827142 103827142 + Silent SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:103827142C>G ENST00000299238.5 + 1 1996 c.1911C>G c.(1909-1911)ctC>ctG p.L637L NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 637 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) AAGCTGTGCTCCAAGCTGTCG 0.617000 Hermansky-Pudlak syndrome 15 27 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7584134 7584134 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr6:7584134C>T ENST00000379802.3 + 24 6980 c.6639C>T c.(6637-6639)atC>atT p.I2213I DSP_ENST00000418664.2_Silent_p.I1614I NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2213 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton p.I2213M(2) biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TCCAAGGAATCAGACAACCTG 0.468000 7 53 0 0 1 0 0 FOXL2 668 broad.mit.edu 37 3 138665349 138665349 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:138665349C>T ENST00000330315.3 - 1 633 c.216G>A c.(214-216)gaG>gaA p.E72E NM_023067.3 NP_075555.1 P58012 FOXL2_HUMAN forkhead box L2 72 convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|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|ubiquitin conjugating enzyme binding large_intestine(1)|lung(1)|ovary(333)|skin(1) 336 TGAGCCTCTTCTCCGCGCTCT 0.632000 Mis granulosa-cell tumour of the ovary """Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III""" 14 78 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61508657 61508657 + Silent SNP G G T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:61508657G>T ENST00000257215.5 + 19 2123 c.2007G>T c.(2005-2007)ggG>ggT p.G669G NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 669 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) ACAACAAGGGGAAGACCGCTC 0.642000 10 26 7.48243e-07 7.74524e-07 1 1 0 MR1 3140 broad.mit.edu 37 1 181024377 181024377 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:181024377C>G ENST00000367580.5 + 6 1007 c.1002C>G c.(1000-1002)atC>atG p.I334M MR1_ENST00000367579.3_Missense_Mutation_p.I289M|MR1_ENST00000434571.2_Missense_Mutation_p.I207M|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000282990.6_Missense_Mutation_p.I242M NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related 334 antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 ATGGAGCCATCTACCTTCCAA 0.433000 14 74 0 0 1 0 0 ALOX12 239 broad.mit.edu 37 17 6903688 6903688 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr17:6903688C>T ENST00000251535.6 + 7 894 c.841C>T c.(841-843)Ctg>Ttg p.L281L RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 281 Lipoxygenase. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 CTTCATCCTTCTGGATGGAAT 0.542000 31 76 0 0 1 0 0 UFSP2 55325 broad.mit.edu 37 4 186339602 186339602 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr4:186339602G>A ENST00000264689.6 - 4 442 c.326C>T c.(325-327)tCa>tTa p.S109L UFSP2_ENST00000502282.1_5'UTR NM_018359.3 NP_060829.2 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 109 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) TACCATGTCTGATAACTTTTT 0.279000 4 23 0 0 1 0 0 TATDN2 9797 broad.mit.edu 37 3 10291002 10291002 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:10291002C>G ENST00000287652.4 + 2 1169 c.118C>G c.(118-120)Cag>Gag p.Q40E TATDN2_ENST00000448281.2_Missense_Mutation_p.Q40E NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 40 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 CCGGCCAGCTCAGAGGTCTGC 0.667000 23 61 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31859710 31859710 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr22:31859710C>G ENST00000397525.1 - 5 765 c.542G>C c.(541-543)aGa>aCa p.R181T EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R181T|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R181T NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 181 Arg-rich. nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GTCTCTGTCTCTCAAGTCCCG 0.468000 13 41 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10939861 10939861 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:10939861C>T ENST00000314646.5 + 19 2372 c.2208C>T c.(2206-2208)atC>atT p.I736I DNM2_ENST00000408974.4_Silent_p.I732I|DNM2_ENST00000355667.6_Silent_p.I736I|DNM2_ENST00000585892.1_Silent_p.I736I|DNM2_ENST00000359692.6_Silent_p.I732I|DNM2_ENST00000389253.4_Silent_p.I736I P50570 DYN2_HUMAN dynamin 2 736 GED. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding p.I732I(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TCAACATCATCGGTGACATCA 0.637000 """F, N, Splice, Mis, O""" ETP ALL 4 38 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33612275 33612275 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:33612275C>T ENST00000399362.4 - 27 3084 c.2731G>A c.(2731-2733)Gaa>Aaa p.E911K CLASP2_ENST00000480013.1_Missense_Mutation_p.E691K|CLASP2_ENST00000359576.5_Missense_Mutation_p.E903K|CLASP2_ENST00000539981.1_Missense_Mutation_p.E681K|CLASP2_ENST00000461133.3_Missense_Mutation_p.E670K|CLASP2_ENST00000307312.7_Missense_Mutation_p.E392K|CLASP2_ENST00000468888.2_Missense_Mutation_p.E912K NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 912 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 CTTTTCAGTTCAACTCGACTG 0.284000 4 6 0 0 1 0 0 RSRC2 65117 broad.mit.edu 37 12 122990075 122990075 + Silent SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:122990075C>T ENST00000331738.7 - 10 1449 c.1304G>A c.(1303-1305)tGa>tAa p.*435* RSRC2_ENST00000354654.2_Silent_p.*387*|RSRC2_ENST00000392442.2_5'UTR NM_023012.5 NP_075388.2 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 0 breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2) 24 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) TGATCATTTTCAAACTGCATC 0.413000 18 64 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39918000 39918000 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:39918000G>A ENST00000564288.1 + 86 21368 c.20591G>A c.(20590-20592)cGg>cAg p.R6864Q MACF1_ENST00000567887.1_Missense_Mutation_p.R6901Q|MACF1_ENST00000289893.4_Missense_Mutation_p.R5307Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R4675Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R6763Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R4805Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R4805Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R4805Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6872 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAACAAAGCCGGCTTGAGCAG 0.448000 12 48 0 0 1 0 0 PAK1 5058 broad.mit.edu 37 11 77054919 77054919 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:77054919C>T ENST00000356341.3 - 10 1474 c.943G>A c.(943-945)Gag>Aag p.E315K PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_Missense_Mutation_p.E217K|PAK1_ENST00000278568.4_Missense_Mutation_p.E315K|PAK1_ENST00000530617.1_Missense_Mutation_p.E315K NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 315 Protein kinase. 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) ACCAGGATCTCATTAATAATC 0.448000 25 103 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155210881 155210881 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr1:155210881C>T ENST00000327247.5 - 2 255 c.23G>A c.(22-24)aGa>aAa p.R8K GBA_ENST00000368373.3_Missense_Mutation_p.R8K|GBA_ENST00000427500.3_Missense_Mutation_p.R8K|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000428024.3_Intron|GBA_ENST00000536770.1_Missense_Mutation_p.R8K NM_001005741.2|NM_001005742.2 NP_001005741.1|NP_001005742.1 P04062 GLCM_HUMAN glucosidase, beta, acid 8 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) TCTTACCTCTCTGGAAGGACT 0.468000 Gaucher disease type I 7 33 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129911795 129911795 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:129911795C>T ENST00000368654.3 - 8 1927 c.1552G>A c.(1552-1554)Gat>Aat p.D518N MKI67_ENST00000368653.3_Missense_Mutation_p.D158N NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 518 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AAGTTTTCATCAAATAGTTCA 0.438000 40 49 0 0 1 0 0 ISL1 3670 broad.mit.edu 37 5 50685712 50685712 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:50685712G>C ENST00000230658.7 + 4 1296 c.711G>C c.(709-711)aaG>aaC p.K237N ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.K237N NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 237 generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) GCAAGGACAAGAAGCGAAGCA 0.582000 7 14 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37165751 37165751 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:37165751C>G ENST00000274258.7 - 36 7650 c.4063G>C c.(4063-4065)Gag>Cag p.E1355Q C5orf42_ENST00000425232.2_Missense_Mutation_p.E2475Q|C5orf42_ENST00000508244.1_Missense_Mutation_p.E2475Q E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 2475 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TCTTGCAGCTCTTTCTCAGCT 0.313000 6 32 0 0 1 0 0 ZNF131 7690 broad.mit.edu 37 5 43161417 43161417 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:43161417G>C ENST00000509634.1 + 4 894 c.438G>C c.(436-438)aaG>aaC p.K146N ZNF131_ENST00000505606.2_Missense_Mutation_p.K146N|ZNF131_ENST00000306938.4_Missense_Mutation_p.K146N|ZNF131_ENST00000509156.1_Missense_Mutation_p.K146N|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000399534.1_Missense_Mutation_p.K146N P52739 ZN131_HUMAN zinc finger protein 131 146 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 AAAAAAGGAAGATTGCAGAAA 0.383000 13 37 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48616933 48616933 + Missense_Mutation SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr3:48616933G>A ENST00000328333.8 - 59 5358 c.5251C>T c.(5251-5253)Cgg>Tgg p.R1751W COL7A1_ENST00000454817.1_Missense_Mutation_p.R1751W NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1751 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGGGTCCCCGAAACCCTTCA 0.607000 3 19 0 0 1 0 0 SIX4 51804 broad.mit.edu 37 14 61190788 61190788 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:61190788G>C ENST00000216513.4 - 1 64 c.5C>G c.(4-6)tCc>tGc p.S2C NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 2 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) GGAGGAAGAGGACATTTTTTG 0.557000 17 33 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21821946 21821946 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr14:21821946C>G ENST00000216297.2 - 24 3174 c.2836G>C c.(2836-2838)Gag>Cag p.E946Q NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 946 Glu-rich (acidic). DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TTAAAAGTCTCATCTTCAATT 0.378000 23 70 0 0 1 0 0 RRM1 6240 broad.mit.edu 37 11 4142993 4142993 + Missense_Mutation SNP C C G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr11:4142993C>G ENST00000300738.5 + 10 1240 c.1036C>G c.(1036-1038)Cag>Gag p.Q346E RRM1_ENST00000534285.1_Missense_Mutation_p.Q124E|RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000423050.2_Missense_Mutation_p.Q249E|RRM1_ENST00000537197.1_Missense_Mutation_p.Q8E NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 346 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) GGAGACTAATCAGGTGAGAGA 0.403000 13 42 0 0 1 0 0 AC012363.13 0 broad.mit.edu 37 2 121080891 121080893 + RNA DEL CCT CCT - rs138298647 by1000genomes TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr2:121080891_121080893delCCT ENST00000437837.1 + 0 132 CTGCCTCCCCCCTCCTCCTCCTC 0.542 2 4 --- --- --- --- CHD1 1105 broad.mit.edu 37 5 98218870 98218872 + In_Frame_Del DEL AAC AAC - TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr5:98218870_98218872delAAC ENST00000284049.3 - 18 2787_2789 c.2638_2640delGTT c.(2638-2640)gttdel p.V880del NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 880 Helicase C-terminal. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AATCAAATATAACAACAGTGTCA 0.355 9 24 --- --- --- --- RBM12B 389677 broad.mit.edu 37 8 94747366 94747366 + Frame_Shift_Del DEL G G - TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr8:94747366delG ENST00000399300.2 - 3 1486 c.1273delC c.(1273-1275)cttfs p.L425fs RBM12B_ENST00000517700.1_Frame_Shift_Del_p.L425fs|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 425 RRM 3. nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TCCTCAGCAAGAAGAAAGTCT 0.373 21 88 --- --- --- --- DLG5 9231 broad.mit.edu 37 10 79613112 79613114 + Splice_Site DEL CTG CTG - TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr10:79613112_79613114delCTG ENST00000372391.2 - 5 867_869 c.862_864delCAG c.(862-864)cagdel p.Q288del DLG5_ENST00000372388.2_Splice_Site_p.Q288del NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 288 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ctgggCCTACCTGCTGCTGCTGG 0.576 2 4 --- --- --- --- TROAP 10024 broad.mit.edu 37 12 49725148 49725149 + Frame_Shift_Del DEL CA CA - TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr12:49725148_49725149delCA ENST00000551245.1 + 13 2631_2632 c.2520_2521delCA c.(2518-2523)tgcaccfs p.T841fs TROAP_ENST00000257909.3_Frame_Shift_Del_p.T751fs|TROAP_ENST00000547923.1_Frame_Shift_Del_p.T430fs Q12815 TROAP_HUMAN trophinin associated protein 342 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 CCCGGGTCTGCACCAACCCTGT 0.619 OREG0021792 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 24 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttgctg>ttg p.141_142LL>L EME2_ENST00000568449.1_In_Frame_Del_p.141_142LL>L A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 141 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 8 74 --- --- --- --- AMDHD2 51005 broad.mit.edu 37 16 2570482 2570483 + Frame_Shift_Ins INS - - G TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:2570482_2570483insG ENST00000302956.4 + 1 117_118 c.23_24insG c.(22-27)gcggggfs p.AG8fs AMDHD2_ENST00000293971.6_Frame_Shift_Ins_p.AG8fs|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_Frame_Shift_Ins_p.AG8fs Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 8 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 CAGGGCGCGGCGGGGGCCCGCG 0.762 2 4 --- --- --- --- FUK 197258 broad.mit.edu 37 16 70504888 70504888 + Frame_Shift_Del DEL G G - TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr16:70504888delG ENST00000288078.6 + 12 1315 c.1083delG c.(1081-1083)ctgfs p.L361fs FUK_ENST00000378912.2_Frame_Shift_Del_p.L393fs|FUK_ENST00000571514.1_5'UTR NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 361 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) AGCAGCTTCTGGCGGCCGGGA 0.687 2 4 --- --- --- --- JUNB 3726 broad.mit.edu 37 19 12902917 12902917 + Frame_Shift_Del DEL A A - TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr19:12902917delA ENST00000302754.4 + 1 608 c.332delA c.(331-333)tacfs p.Y111fs NM_002229.2 NP_002220.1 P17275 JUNB_HUMAN jun B proto-oncogene 111 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|kidney(1)|lung(3) 6 CAGTACTTTTACCCCCGCGGG 0.672 2 4 --- --- --- --- PREX1 57580 broad.mit.edu 37 20 47254286 47254286 + Frame_Shift_Del DEL C C - TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx a9e3e375-d384-4f3b-864a-587165d27fbf b9412329-1c4c-4ab1-8627-4f285ff25296 g.chr20:47254286delC ENST00000396220.1 - 31 3931 c.3909delG c.(3907-3909)gggfs p.G1303fs PREX1_ENST00000371941.3_Frame_Shift_Del_p.G1303fs Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 1303 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCTGGTTCTTCCCATCTGGAA 0.642 2 4 --- --- --- ---