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 SLC25A38 54977 broad.mit.edu 37 3 39431021 39431021 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr3:39431021C>T ENST00000273158.4 + 2 482 c.105C>T c.(103-105)tcC>tcT p.S35S NM_017875.2 NP_060345.2 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 35 erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGTGTGGCTCCATCAGTGGGA 0.512000 18 306 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 6 374 0 0 1 0 0 FTSJ3 117246 broad.mit.edu 37 17 61902464 61902464 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr17:61902464C>T ENST00000427159.2 - 8 1300 c.655G>A c.(655-657)Gag>Aag p.E219K NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 219 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 ACTTCAACCTCCTTAAAGGCA 0.428000 20 286 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34242517 34242517 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:34242517C>T ENST00000374114.3 - 3 991 c.728G>A c.(727-729)gGc>gAc p.G243D CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.G243D|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.G243D|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 243 Pro-rich. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GGGCGGCATGCCCGACATGGG 0.552000 5 332 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220312960 220312960 + Silent SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:220312960G>A ENST00000312358.7 + 4 1212 c.1080G>A c.(1078-1080)tcG>tcA p.S360S SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.S256S NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 360 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGTCCAAGTCGTCCGGGCCCT 0.716000 11 109 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 5 57 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71130456 71130456 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:71130456C>T ENST00000333538.5 + 7 1775 c.1141C>T c.(1141-1143)Cgg>Tgg p.R381W WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 381 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCACATTGAGCGGAAGAAGAA 0.488000 7 362 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121560264 121560264 + Silent SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr6:121560264G>A ENST00000275159.6 - 20 2315 c.2316C>T c.(2314-2316)acC>acT p.T772T TBC1D32_ENST00000398212.2_Silent_p.T772T TBC1 domain family, member 32 TTCTGGGATGGGTTACCCTAA 0.328000 90 470 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35293131 35293131 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:35293131G>A ENST00000408931.3 - 1 627 c.101C>T c.(100-102)gCg>gTg p.A34V NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 34 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 GTTCTCCGTCGCCTCCTTCTC 0.647000 5 84 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36868017 36868017 + Missense_Mutation SNP T T C TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:36868017T>C ENST00000279024.4 - 4 1931 c.1660A>G c.(1660-1662)Acc>Gcc p.T554A NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 554 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TCCTCCAGGGTGGGGCCTCTT 0.617000 15 263 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19436284 19436284 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:19436284G>A ENST00000538714.1 + 11 1370 c.1366G>A c.(1366-1368)Gaa>Aaa p.E456K PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E462K|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E456K|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E214K NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 456 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) CCGCTACCCTGAAGGTTATAG 0.408000 25 212 0 0 1 0 0 RP11-123M6.2 0 broad.mit.edu 37 14 101318784 101318784 + RNA SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr14:101318784G>A ENST00000554041.1 - 0 143 MIR770_ENST00000390219.1_RNA GCTGGGCCTCGTGGGCCTGAT 0.602000 5 198 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276168 186276168 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:186276168C>T ENST00000445192.2 + 7 1362 c.1317C>T c.(1315-1317)acC>acT p.T439T PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367483.4_Silent_p.T398T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 439 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGAAGC 0.657000 5 366 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961269 51961269 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:51961269G>A ENST00000321424.3 - 1 439 c.373C>T c.(373-375)Cgg>Tgg p.R125W SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125W|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125W NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 125 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CTCTCTAGCCGAAAGAAATAT 0.502000 30 593 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47427807 47427807 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr4:47427807C>T ENST00000295454.3 + 9 1489 c.1197C>T c.(1195-1197)agC>agT p.S399S GABRB1_ENST00000538619.1_Silent_p.S329S NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 399 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 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCTATGACAGCGCCAGCATCC 0.657000 22 180 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 8 130 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179587193 179587193 + Nonsense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:179587193G>A ENST00000589042.1 - 77 22545 c.22321C>T c.(22321-22323)Cga>Tga p.R7441* TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7124*|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7124 Ig-like 56. S -> N (in Ref. 1; CAA62189). ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R6197*(1) 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) CCATTTAATCGACAAGTGAGT 0.418000 42 274 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4185464 4185464 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:4185464G>A ENST00000404826.2 + 29 4478 c.4339G>A c.(4339-4341)Gca>Aca p.A1447T SDK1_ENST00000389531.3_Missense_Mutation_p.A1447T NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1447 Fibronectin type-III 8. 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) CCCGGAGTCCGCATACATCTT 0.662000 5 251 0 0 1 0 0 HOXC12 3228 broad.mit.edu 37 12 54348951 54348951 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:54348951G>A ENST00000243103.3 + 1 334 c.238G>A c.(238-240)Ggc>Agc p.G80S NM_173860.1 NP_776272.1 P31275 HXC12_HUMAN homeobox C12 80 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 12 CCCTCCCTTCGGCCGCACGTG 0.721000 8 56 0 0 1 0 0 RPUSD4 84881 broad.mit.edu 37 11 126081418 126081418 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:126081418G>A ENST00000298317.4 - 1 169 c.116C>T c.(115-117)aCg>aTg p.T39M RPUSD4_ENST00000533628.1_Missense_Mutation_p.T39M|FAM118B_ENST00000533050.1_5'UTR NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 39 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) ATTTATGGCCGTAGAGGCAGC 0.592000 6 866 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 4 142 0.00198382 0.00205675 1 1 0 SCN9A 6335 broad.mit.edu 37 2 167168078 167168078 + Silent SNP A A G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:167168078A>G ENST00000375387.4 - 2 529 c.189T>C c.(187-189)taT>taC p.Y63Y SCN9A_ENST00000409435.1_Silent_p.Y63Y|SCN9A_ENST00000303354.6_Silent_p.Y63Y|SCN9A_ENST00000409672.1_Silent_p.Y63Y Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 63 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GAATGTCCCCATAGATGAAGG 0.473000 19 223 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 6 346 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 8 199 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026419 129026419 + Nonsense_Mutation SNP G G A rs139541363 by1000genomes TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:129026419G>A ENST00000259241.6 - 2 566 c.553C>T c.(553-555)Cga>Tga p.R185* NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 185 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity p.R185*(2) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) ACGGGGTCTCGTAGCAGGGTG 0.627000 6 161 0 0 1 0 0 RFPL1 5988 broad.mit.edu 37 22 29837713 29837713 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr22:29837713G>A ENST00000354373.2 + 2 765 c.556G>A c.(556-558)Gtg>Atg p.V186M RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 186 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 GGAGGTGGACGTGGGAACAAG 0.562000 31 342 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32134698 32134698 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:32134698C>T ENST00000312561.4 + 4 1223 c.809C>T c.(808-810)gCc>gTc p.A270V KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 CAGCAGTATGCCACGCAAACT 0.403000 6 459 0 0 1 0 0 CDC25B 994 broad.mit.edu 37 20 3785242 3785242 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:3785242G>A ENST00000245960.5 + 15 2214 c.1517G>A c.(1516-1518)cGt>cAt p.R506H CDC25B_ENST00000379598.5_Missense_Mutation_p.R415H|CDC25B_ENST00000439880.2_Missense_Mutation_p.R492H|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.R465H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R442H NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 506 Rhodanese. cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 GAACGAGACCGTGCTGTCAAC 0.592000 110 560 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 6 95 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999841 45999841 + Silent SNP A A G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr21:45999841A>G ENST00000400372.1 - 1 640 c.615T>C c.(613-615)tgT>tgC p.C205C TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 205 22 X 5 AA repeats of C-C-X(3). keratin filament p.C205C(2) endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 AAGCCGGCTGACAGCTAGACT 0.632000 8 693 0 0 1 0 0 NAA60 79903 broad.mit.edu 37 16 3533506 3533506 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr16:3533506C>T ENST00000407558.4 + 6 784 c.481C>T c.(481-483)Ctc>Ttc p.L161F NAA60_ENST00000570819.1_Intron|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000360862.5_Missense_Mutation_p.L96F|NAA60_ENST00000573580.1_Missense_Mutation_p.L96F|NAA60_ENST00000572584.1_Missense_Mutation_p.L161F|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000414063.2_Missense_Mutation_p.L161F|NAA60_ENST00000577013.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000424546.2_Missense_Mutation_p.L168F|NAA60_ENST00000575076.1_Missense_Mutation_p.L161F|NAA60_ENST00000570551.1_3'UTR NM_001083601.1 NP_001077070.1 Q9H7X0 NAT15_HUMAN N(alpha)-acetyltransferase 60, NatF catalytic subunit 161 N-acetyltransferase. N-acetyltransferase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1) 7 GCACCACTATCTCCCCTATTA 0.488000 16 216 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19505631 19505631 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:19505631C>T ENST00000375267.2 - 18 2271 c.2268G>A c.(2266-2268)gtG>gtA p.V756V UBR4_ENST00000375254.3_Silent_p.V756V|UBR4_ENST00000375217.2_Silent_p.V756V|UBR4_ENST00000375226.2_Silent_p.V756V Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 756 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGCGTGAAAGCACAGAGAGGC 0.507000 65 404 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128735 45128735 + RNA SNP T T C rs138973461 by1000genomes TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr17:45128735T>C ENST00000575173.1 - 0 418 GAAATACTAATGATTTTTATT 0.323000 6 343 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607867 53607867 + Silent SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:53607867G>A ENST00000425354.2 - 7 1276 c.789C>T c.(787-789)ctC>ctT p.L263L RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Silent_p.L263L|RARG_ENST00000338561.5_Silent_p.L252L|RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000543726.1_Silent_p.L241L NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 263 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) AGGCAGCTTTGAGCAGAGTGA 0.532000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 77 1002 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22216568 22216568 + Missense_Mutation SNP C C G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:22216568C>G ENST00000374695.3 - 6 559 c.480G>C c.(478-480)caG>caC p.Q160H NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 160 SEA. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TCTCCTGAATCTGAGCCCCAT 0.622000 19 425 0 0 1 0 0 FAH 2184 broad.mit.edu 37 15 80465429 80465429 + Silent SNP T T A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr15:80465429T>A ENST00000539156.1 + 8 2808 c.570T>A c.(568-570)tcT>tcA p.S190S FAH_ENST00000558627.1_3'UTR|FAH_ENST00000407106.1_Silent_p.S260S|FAH_ENST00000261755.5_Silent_p.S260S|FAH_ENST00000561421.1_Silent_p.S260S P16930 FAAA_HUMAN fumarylacetoacetate hydrolase (fumarylacetoacetase) 260 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCACTGTCTCTCCGTGGGTGG 0.572000 Tyrosinemia, type 1 OREG0023354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 64 276 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654414 46654414 + Silent SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr22:46654414G>A ENST00000253255.5 - 1 4805 c.4806C>T c.(4804-4806)taC>taT p.Y1602Y NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1602 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TGTCATAGCCGTAAGTCAGTC 0.398000 4 199 0 0 1 0 0 CRMP1 1400 broad.mit.edu 37 4 5830236 5830236 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr4:5830236G>A ENST00000324989.7 - 12 1871 c.1783C>T c.(1783-1785)Cgc>Tgc p.R595C CRMP1_ENST00000512574.1_Missense_Mutation_p.R479C|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.R481C NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 481 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) ATTTTGACGCGCTGGTACAGG 0.592000 7 113 0 0 1 0 0 PABPC1 26986 broad.mit.edu 37 8 101730449 101730449 + Missense_Mutation SNP T T A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr8:101730449T>A ENST00000318607.5 - 2 1381 c.253A>T c.(253-255)Atg>Ttg p.M85L PABPC1_ENST00000522387.1_Missense_Mutation_p.M85L|PABPC1_ENST00000519004.1_Missense_Mutation_p.M40L NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 85 RRM 1. 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) TGAGACCACATGATGCGTACT 0.398000 4 181 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 6 303 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158913710 158913710 + Missense_Mutation SNP G G A rs148035759 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:158913710G>A ENST00000368140.1 + 6 1378 c.1133G>A c.(1132-1134)cGa>cAa p.R378Q PYHIN1_ENST00000368138.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.R378Q NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 378 HIN-200. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) TTCTGCTTTCGACTGAGAAAG 0.363000 8 257 0 0 1 0 0 TARSL2 123283 broad.mit.edu 37 15 102252128 102252128 + Missense_Mutation SNP G G A rs146271638 byFrequency TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr15:102252128G>A ENST00000335968.3 - 5 983 c.767C>T c.(766-768)cCg>cTg p.P256L NM_152334.2 NP_689547.2 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 256 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTCAATGGGCGGACCGTAGCA 0.463000 11 157 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106705000 106705000 + Missense_Mutation SNP C C A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:106705000C>A ENST00000546625.1 + 2 306 c.147C>A c.(145-147)agC>agA p.S49R TCP11L2_ENST00000547153.1_Missense_Mutation_p.S49R|TCP11L2_ENST00000299045.3_Missense_Mutation_p.S49R Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 49 Ser-rich. endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 GCAAATCCAGCTCTCCTGCTT 0.522000 4 154 0.00909568 0.00929341 1 1 0 USP5 0 broad.mit.edu 37 12 6970246 6970246 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:6970246C>T ENST00000229268.8 + 12 1526 c.1474C>T c.(1474-1476)Ccc>Tcc p.P492S USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.P492S NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) 492 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 GCTGCCTGTGCCCATGGATGC 0.557000 45 663 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 10 50 0 0 1 0 0 NFS1 9054 broad.mit.edu 37 20 34260692 34260692 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:34260692C>T ENST00000374092.4 - 12 1365 c.1295G>A c.(1294-1296)cGt>cAt p.R432H NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000397425.1_Missense_Mutation_p.R372H|NFS1_ENST00000541387.1_Missense_Mutation_p.R381H|NFS1_ENST00000540053.1_Missense_Mutation_p.R230H|NFS1_ENST00000374085.1_Missense_Mutation_p.R372H NM_021100.4 NP_066923.3 Q9Y697 NFS1_HUMAN NFS1 cysteine desulfurase 432 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 18 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TTCTCGAAGACGCTTCACATG 0.458000 15 185 0 0 1 0 0 TBC1D27 0 broad.mit.edu 37 17 16831075 16831075 + RNA SNP A A C TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr17:16831075A>C ENST00000261651.2 - 0 2694 GGAGGACGGCAGTGTTGCGGC 0.632000 8 102 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 40060900 40060900 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr22:40060900C>T ENST00000336649.4 + 24 3841 c.3841C>T c.(3841-3843)Cgg>Tgg p.R1281W CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1240W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1275W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1275W Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1275 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) CCGAGTCTTGCGGCTCCTGCG 0.637000 5 181 0 0 1 0 0 VAX1 11023 broad.mit.edu 37 10 118895992 118895992 + Silent SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr10:118895992G>A ENST00000277905.2 - 2 664 c.420C>T c.(418-420)tcC>tcT p.S140S VAX1_ENST00000369206.5_Silent_p.S140S NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 140 nucleus sequence-specific DNA binding p.S140S(1) endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) CCTGGGTCTCGGAGAGGTTAA 0.652000 17 131 0 0 1 0 0 ZNF470 388566 broad.mit.edu 37 19 57089047 57089047 + Missense_Mutation SNP G G T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:57089047G>T ENST00000330619.8 + 6 1936 c.1250G>T c.(1249-1251)aGa>aTa p.R417I ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R417I NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R417I(1) endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CAGCATAAGAGAACTCATACT 0.418000 16 324 1.5739e-10 1.69404e-10 1 1 0 NLRP7 199713 broad.mit.edu 37 19 55452821 55452821 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:55452821C>T ENST00000446217.1 - 4 745 c.343G>A c.(343-345)Gca>Aca p.A115T NLRP7_ENST00000448121.2_Missense_Mutation_p.A87T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A87T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A87T|NLRP7_ENST00000590030.1_Missense_Mutation_p.A87T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A87T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A87T Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 87 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TCAGCCTTTGCCATCTTACAC 0.423000 5 387 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18961884 18961884 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chrX:18961884G>A ENST00000379942.4 - 7 1326 c.661C>T c.(661-663)Cat>Tat p.H221Y NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 221 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) CGTCCTCCATGGGCTCCAAAA 0.458000 9 352 0 0 1 0 0 XIST 0 broad.mit.edu 37 X 73071643 73071643 + RNA SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chrX:73071643G>A ENST00000429829.1 - 0 945 NR_001564.2 GAGTTATGCGGCAAGTCTAAA 0.493000 5 203 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1265999 1265999 + Missense_Mutation SNP T T C TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:1265999T>C ENST00000447027.1 + 31 7956 c.7898T>C c.(7897-7899)cTt>cCt p.L2633P MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2630 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.L2630P(1)|p.L2609P(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCACGCACGCTTCCAGTGTGG 0.637000 4 348 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 7 604 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127690535 127690535 + Missense_Mutation SNP C C G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr9:127690535C>G ENST00000373555.4 - 6 664 c.331G>C c.(331-333)Gag>Cag p.E111Q NM_002077.3 NP_002068.1 Q92805 GOGA1_HUMAN golgin A1 111 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 TGGAATGTCTCATTCTGCTCT 0.433000 4 148 0 0 1 0 0 E2F8 79733 broad.mit.edu 37 11 19256510 19256510 + Nonsense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:19256510G>A ENST00000527884.1 - 5 779 c.547C>T c.(547-549)Cga>Tga p.R183* RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Nonsense_Mutation_p.R183* NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 183 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity p.R183*(1) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGATTGTGTCGCCCGTGCCAA 0.463000 59 286 0 0 1 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276711 71276711 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:71276711C>T ENST00000398531.1 + 1 103 c.78C>T c.(76-78)tcC>tcT p.S26S KRTAP5-10_ENST00000376536.4_Silent_p.S26S NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 26 keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GCTGTGGCTCCGGCTGTGGGG 0.667000 6 345 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80136879 80136879 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:80136879G>A ENST00000466387.1 + 11 1736 c.1012G>A c.(1012-1014)Gtg>Atg p.V338M CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V338M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 338 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.V338M(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GTGCAACGCCGTGCGGCAGGC 0.597000 20 154 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44747283 44747283 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:44747283G>A ENST00000222673.5 + 22 2941 c.2899G>A c.(2899-2901)Gac>Aac p.D967N OGDH_ENST00000449767.1_Missense_Mutation_p.D963N|OGDH_ENST00000447398.1_Missense_Mutation_p.D978N|OGDH_ENST00000444676.1_Missense_Mutation_p.D982N|OGDH_ENST00000439616.2_Missense_Mutation_p.D817N|OGDH_ENST00000543843.1_Missense_Mutation_p.D918N NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 967 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) AGGCTACTATGACTACGTGAA 0.602000 7 319 0 0 1 0 0 SLC41A3 54946 broad.mit.edu 37 3 125734346 125734346 + Missense_Mutation SNP C C T rs138712564 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr3:125734346C>T ENST00000383598.2 - 7 1168 c.883G>A c.(883-885)Gtc>Atc p.V295I SLC41A3_ENST00000346785.5_Missense_Mutation_p.V285I|SLC41A3_ENST00000360370.4_Missense_Mutation_p.V321I|SLC41A3_ENST00000315891.6_Missense_Mutation_p.V321I|SLC41A3_ENST00000508835.1_Missense_Mutation_p.V204I NM_001008487.1 NP_001008487.1 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 321 integral to membrane|plasma membrane cation transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GBM - Glioblastoma multiforme(114;0.167) CCACATATGACGGGGGTAAAT 0.517000 27 292 0 0 1 0 0 ASGR2 433 broad.mit.edu 37 17 7010342 7010342 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr17:7010342C>T ENST00000380952.2 - 7 904 c.640G>A c.(640-642)Gtc>Atc p.V214I ASGR2_ENST00000355035.5_Missense_Mutation_p.V214I|ASGR2_ENST00000254850.7_Missense_Mutation_p.V190I|ASGR2_ENST00000446679.2_Missense_Mutation_p.V195I NM_001181.4|NM_001201352.1|NM_080912.3 NP_001172.1|NP_001188281.1|NP_550434.1 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 214 C-type lectin. cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) GAGTTGATGACCACCAGGTGT 0.607000 18 205 0 0 1 0 0 ZNF182 7569 broad.mit.edu 37 X 47835701 47835701 + Missense_Mutation SNP C C G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chrX:47835701C>G ENST00000396965.1 - 7 2135 c.1785G>C c.(1783-1785)gaG>gaC p.E595D ZNF182_ENST00000376943.3_Missense_Mutation_p.E576D|ZNF182_ENST00000305127.6_Missense_Mutation_p.E595D NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 595 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E595D(1)|p.E576D(1) endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 TATAGGGTTTCTCTCCAGTAT 0.443000 31 191 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112175046 112175046 + Missense_Mutation SNP C C A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr5:112175046C>A ENST00000457016.1 + 16 4135 c.3755C>A c.(3754-3756)tCt>tAt p.S1252Y APC_ENST00000508376.2_Missense_Mutation_p.S1252Y|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S1252Y P25054 APC_HUMAN adenomatous polyposis coli 1252 Responsible for down-regulation through a process mediated by direct ubiquitination.|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.K1192fs*3(1)|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) TGCAAAGTTTCTTCTATTAAC 0.393000 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) 13 183 7.93312e-07 8.4103e-07 1 1 0 ZNF83 55769 broad.mit.edu 37 19 53117004 53117004 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:53117004G>A ENST00000597597.1 - 2 3067 c.814C>T c.(814-816)Cat>Tat p.H272Y ZNF83_ENST00000301096.3_Missense_Mutation_p.H272Y|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000545872.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000541777.2_Missense_Mutation_p.H272Y|ZNF83_ENST00000391789.4_Intron|ZNF83_ENST00000601257.1_Intron P51522 ZNF83_HUMAN zinc finger protein 83 272 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TGTGAAATATGATGGAAGACC 0.418000 20 444 0 0 1 0 0 ALG1L13P 0 broad.mit.edu 37 8 8095843 8095843 + RNA SNP C C T rs62495078 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr8:8095843C>T ENST00000523017.1 - 0 608 GAAGAGCAGACACTGCCATGG 0.602000 8 145 0 0 1 0 0 PCDHA12 0 broad.mit.edu 37 5 140255222 140255222 + Missense_Mutation SNP G G T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr5:140255222G>T ENST00000398631.2 + 1 165 c.165G>T c.(163-165)gaG>gaT p.E55D PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGGCTGGAGCTGGCGGAGC 0.622000 5 294 3.86212e-05 4.03377e-05 1 1 0 TPO 7173 broad.mit.edu 37 2 1497609 1497609 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:1497609C>T ENST00000345913.4 + 11 1895 c.1804C>T c.(1804-1806)Cgc>Tgc p.R602C TPO_ENST00000382198.1_Missense_Mutation_p.R429C|TPO_ENST00000382201.3_Missense_Mutation_p.R545C|TPO_ENST00000349624.3_Missense_Mutation_p.R429C|TPO_ENST00000346956.3_Missense_Mutation_p.R602C|TPO_ENST00000337415.3_Missense_Mutation_p.R602C|TPO_ENST00000329066.4_Missense_Mutation_p.R602C|TPO_ENST00000497517.2_3'UTR NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 602 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGGCCTGCCTCGCCTGGAGAC 0.572000 14 92 0 0 1 0 0 CHRNA2 0 broad.mit.edu 37 8 27320780 27320780 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr8:27320780G>A ENST00000407991.1 - 6 1788 c.1180C>T c.(1180-1182)Cgc>Tgc p.R394C CHRNA2_ENST00000520933.2_Missense_Mutation_p.R394C|CHRNA2_ENST00000240132.2_Missense_Mutation_p.R379C NM_000742.3 NP_000733.2 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 2 (neuronal) 394 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) AGCTTCAGGCGTAGGGGGTGG 0.667000 12 194 0 0 1 0 0 PEG10 23089 broad.mit.edu 37 7 94293374 94293374 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:94293374G>A ENST00000482108.1 + 2 985 c.506G>A c.(505-507)cGc>cAc p.R169H PEG10_ENST00000488574.1_Missense_Mutation_p.R169H NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 169 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GTTGCCAAACGCAAGATCAGA 0.542000 102 491 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20774340 20774340 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:20774340G>A ENST00000359062.3 + 5 1575 c.1535G>A c.(1534-1536)cGa>cAa p.R512Q PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 512 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) AAGCAAAGTCGACCAGGTAAG 0.418000 14 169 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88512344 88512344 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:88512344C>T ENST00000552810.1 - 17 1970 c.1627G>A c.(1627-1629)Gaa>Aaa p.E543K CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.E545K NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 543 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TCTAGACTTTCAATCTGCAAA 0.333000 10 40 0 0 1 0 0 B3GALT4 8705 broad.mit.edu 37 6 33245960 33245960 + Nonsense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr6:33245960G>A ENST00000451237.1 + 1 1044 c.764G>A c.(763-765)tGg>tAg p.W255* NM_003782.3 NP_003773.1 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 255 protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 CCTCACACCTGGGGCCCCTTT 0.657000 4 204 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855284 53855284 + Silent SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:53855284G>A ENST00000458035.1 + 4 1473 c.1356G>A c.(1354-1356)tcG>tcA p.S452S ZNF845_ENST00000595091.1_Silent_p.S452S NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S452S(2) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GTTTCAAATCGAACCTTGAAA 0.398000 8 358 0 0 1 0 0 ABTB2 25841 broad.mit.edu 37 11 34184254 34184254 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:34184254G>A ENST00000435224.2 - 10 2511 c.2087C>T c.(2086-2088)gCg>gTg p.A696V ABTB2_ENST00000298992.2_Missense_Mutation_p.A510V NM_145804.2 NP_665803.2 A8K6S9 A8K6S9_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 510 DNA binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) CTGGCTCGACGCATCACTTTC 0.657000 16 164 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661187 22661187 + RNA SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr22:22661187G>A ENST00000426066.1 + 0 279 NR_027293.1 CCCCCACCCCGTCATGTACAG 0.413000 12 93 0 0 1 0 0 CNBD1 168975 broad.mit.edu 37 8 88249204 88249204 + Missense_Mutation SNP A A G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr8:88249204A>G ENST00000518476.1 + 6 686 c.635A>G c.(634-636)aAc>aGc p.N212S CNBD1_ENST00000522427.1_3'UTR NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 212 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 CCTCAAACAAACGTGTATAAA 0.368000 26 333 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73010006 73010006 + Silent SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:73010006G>A ENST00000313375.3 - 15 2318 c.2271C>T c.(2269-2271)taC>taT p.Y757Y MLXIPL_ENST00000395189.1_Silent_p.Y664Y|MLXIPL_ENST00000354613.1_Silent_p.Y736Y|MLXIPL_ENST00000434326.1_Silent_p.Y663Y|MLXIPL_ENST00000429400.2_Silent_p.Y738Y|MLXIPL_ENST00000414749.2_Silent_p.Y755Y NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 757 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) GGGTTCGGACGTAGTCATCAA 0.632000 11 142 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190426 209190426 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:209190426C>T ENST00000264380.4 + 20 3049 c.2891C>T c.(2890-2892)cCg>cTg p.P964L NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 964 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding p.P964L(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 ACAGCTTGCCCGGCGGGTCTC 0.502000 28 246 0 0 1 0 0 HEATR2 54919 broad.mit.edu 37 7 794231 794231 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:794231C>T ENST00000297440.6 + 5 1050 c.1030C>T c.(1030-1032)Cgc>Tgc p.R344C HEATR2_ENST00000313147.5_Missense_Mutation_p.R344C NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 344 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) TCCAGAGCGCCGCCCTGTGCT 0.547000 61 647 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7703894 7703894 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr16:7703894G>A ENST00000340209.4 + 9 1147 c.850G>A c.(850-852)Gtg>Atg p.V284M RBFOX1_ENST00000311745.5_Missense_Mutation_p.V299M|RBFOX1_ENST00000553186.1_Missense_Mutation_p.V252M|RBFOX1_ENST00000550418.1_Missense_Mutation_p.V279M|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V236M|RBFOX1_ENST00000547372.1_Missense_Mutation_p.V322M|RBFOX1_ENST00000547338.1_Missense_Mutation_p.V279M|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V296M|RBFOX1_ENST00000422070.4_Missense_Mutation_p.V322M|RBFOX1_ENST00000436368.2_Missense_Mutation_p.V299M|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V299M Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 279 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding p.V299M(2)|p.V279M(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 CGGTCGCACCGTGTACAACAC 0.741000 5 53 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577555 7577555 + Nonsense_Mutation SNP G G T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr17:7577555G>T ENST00000420246.2 - 7 858 c.726C>A c.(724-726)tgC>tgA p.C242* TP53_ENST00000269305.4_Nonsense_Mutation_p.C242*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C242*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C242*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C242*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C242* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 242 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.C242W(7)|p.?(5)|p.C242*(3)|p.N239_C242delNSSC(3)|p.C242C(2)|p.C242fs*20(1)|p.C242F(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCCGCCCATGCAGGAACTGT 0.582000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 35 156 1.47244e-24 1.60942e-24 1 1 0 MAP6 4135 broad.mit.edu 37 11 75298708 75298708 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:75298708G>A ENST00000304771.3 - 4 2588 c.1838C>T c.(1837-1839)cCt>cTt p.P613L CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.P284L NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 613 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) ACCCTTGACAGGTGCTGGGAC 0.537000 44 456 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122377080 122377080 + Missense_Mutation SNP C C A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:122377080C>A ENST00000334010.7 - 2 803 c.382G>T c.(382-384)Gcc>Tcc p.A128S CADPS2_ENST00000412584.2_Missense_Mutation_p.A128S|CADPS2_ENST00000449022.2_Missense_Mutation_p.A128S|CADPS2_ENST00000313070.7_Missense_Mutation_p.A128S NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 128 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TTGAGGAAGGCCTGGAACCGT 0.383000 13 176 5.50884e-06 5.79661e-06 1 1 0 FAHD2B 151313 broad.mit.edu 37 2 97751522 97751522 + Missense_Mutation SNP C C T rs138523783 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:97751522C>T ENST00000414820.1 - 6 869 c.599G>A c.(598-600)cGc>cAc p.R200H FAHD2B_ENST00000272610.3_Missense_Mutation_p.R200H|FAHD2B_ENST00000440566.2_Missense_Mutation_p.R200H Q6P2I3 FAH2B_HUMAN fumarylacetoacetate hydrolase domain containing 2B 200 hydrolase activity|metal ion binding kidney(5)|large_intestine(2)|lung(3)|skin(2) 12 TTTCCCATTGCGTCTTGTTAG 0.597000 22 317 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37346362 37346362 + Silent SNP C C A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:37346362C>A ENST00000373091.3 - 3 439 c.423G>T c.(421-423)ccG>ccT p.P141P GRIK3_ENST00000373093.4_Silent_p.P141P NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 141 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGTTGTCCAGCGGGTGGTGCT 0.612000 30 207 2.61193e-14 2.83294e-14 1 1 0 BRWD3 254065 broad.mit.edu 37 X 79938009 79938009 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chrX:79938009C>T ENST00000373275.4 - 38 4568 c.4352G>A c.(4351-4353)cGt>cAt p.R1451H BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1451 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GCTTCTTAGACGTTTTCTGTA 0.368000 12 390 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130287020 130287020 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr3:130287020G>A ENST00000358511.6 + 5 2004 c.1973G>A c.(1972-1974)cGg>cAg p.R658Q COL6A6_ENST00000453409.2_Missense_Mutation_p.R658Q NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 658 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen p.R658L(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGACCAGATCGGGTGCAAATT 0.413000 37 451 0 0 1 0 0 TMEM63A 9725 broad.mit.edu 37 1 226037743 226037743 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:226037743C>T ENST00000366835.3 - 21 2211 c.1941G>A c.(1939-1941)cgG>cgA p.R647R NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 647 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) AGAGGTTGTGCCGGTCCACCA 0.602000 5 474 0 0 1 0 0 CORT 1325 broad.mit.edu 37 1 10510135 10510135 + Missense_Mutation SNP A A C TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:10510135A>C ENST00000320498.4 + 1 165 c.5A>C c.(4-6)tAt>tCt p.Y2S APITD1_ENST00000602296.1_Intron|CORT_ENST00000377049.3_5'UTR|APITD1-CORT_ENST00000400900.2_Intron|APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1-CORT_ENST00000470413.2_Intron cortistatin breast(1)|endometrium(1)|stomach(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487) TTAGACATGTATAGACACAAA 0.512000 56 631 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661208 22661208 + RNA SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr22:22661208C>T ENST00000426066.1 + 0 300 NR_027293.1 CTGAATCATGCAGAATTTGAA 0.408000 12 137 0 0 1 0 0 TMEM17 200728 broad.mit.edu 37 2 62728450 62728450 + Missense_Mutation SNP T T G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:62728450T>G ENST00000335390.5 - 4 702 c.491A>C c.(490-492)aAa>aCa p.K164T NM_198276.2 NP_938017.2 Q86X19 TMM17_HUMAN transmembrane protein 17 164 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 Lung NSC(7;0.0274)|all_lung(7;0.0568) LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169) ATTAACCATTTTCCTTAAGGT 0.428000 8 334 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 23 197 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 6 222 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225611758 225611758 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:225611758G>A ENST00000338179.2 - 2 145 c.20C>T c.(19-21)gCc>gTc p.A7V LBR_ENST00000272163.4_Missense_Mutation_p.A7V NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 7 Nucleoplasmic (Potential). cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) TTCACCATCGGCAAATTTCCT 0.373000 8 1542 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61511164 61511164 + Silent SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:61511164G>A ENST00000266070.4 - 16 6469 c.6144C>T c.(6142-6144)tcC>tcT p.S2048S DIDO1_ENST00000395343.1_Silent_p.S2048S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 2048 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) AGGAGAGCGCGGAGGGCGGCC 0.721000 27 361 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22216609 22216609 + Nonsense_Mutation SNP C C A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:22216609C>A ENST00000374695.3 - 6 518 c.439G>T c.(439-441)Gag>Tag p.E147* NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 147 SEA. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ACATCCAGCTCCACAAAAACC 0.617000 19 373 5.73435e-26 6.31674e-26 1 1 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606443 1606443 + Missense_Mutation SNP T T C TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:1606443T>C ENST00000382171.2 - 1 70 c.37A>G c.(37-39)Agc>Ggc p.S13G KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 13 keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCCACAGCTGGAGCCACAG 0.672000 8 442 0 0 1 0 0 DDR2 4921 broad.mit.edu 37 1 162729744 162729744 + Missense_Mutation SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:162729744G>A ENST00000367922.2 + 9 1268 c.830G>A c.(829-831)cGc>cAc p.R277H DDR2_ENST00000367921.3_Missense_Mutation_p.R277H NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 277 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GAATTTGACCGCATCAGGAAT 0.498000 5 297 0 0 1 0 0 CASP5 838 broad.mit.edu 37 11 104871109 104871109 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:104871109C>T ENST00000393141.2 - 6 901 c.870G>A c.(868-870)gcG>gcA p.A290A CASP5_ENST00000444749.2_Silent_p.A219A|CASP5_ENST00000526056.1_Silent_p.A290A|CASP5_ENST00000531367.1_Silent_p.A135A|CASP5_ENST00000418434.1_Silent_p.A135A|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000260315.3_Silent_p.A277A NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 277 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TCTTTTTATGCGCAGTTCCGC 0.483000 5 388 0 0 1 0 0 DRD3 1814 broad.mit.edu 37 3 113850098 113850098 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr3:113850098C>T ENST00000383673.2 - 6 1303 c.873G>A c.(871-873)gcG>gcA p.A291A DRD3_ENST00000295881.7_Intron|DRD3_ENST00000467632.1_Silent_p.A291A|DRD3_ENST00000460779.1_Silent_p.A291A NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 291 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) TGAGCTTGGGCGCTATGGTGG 0.542000 46 576 0 0 1 0 0 TIMM44 10469 broad.mit.edu 37 19 7998774 7998774 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:7998774C>T ENST00000270538.3 - 6 926 c.658G>A c.(658-660)Gag>Aag p.E220K NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 220 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 ACTTTCTCCTCCTTGAACTTA 0.587000 26 194 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 16 54 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480145 73480145 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr8:73480145C>T ENST00000523207.1 + 2 764 c.176C>T c.(175-177)aCg>aTg p.T59M NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 59 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTGCCCAGGACGCGCCTGGGG 0.537000 18 334 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158153826 158153826 + Splice_Site SNP G G A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:158153826G>A ENST00000368171.3 + 6 1485 c.e6+1 NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding p.?(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) AGAGGCAAACGTAAGTCTCCC 0.512000 43 466 0 0 1 0 0 NTSR1 4923 broad.mit.edu 37 20 61341006 61341006 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:61341006C>T ENST00000370501.3 + 1 818 c.447C>T c.(445-447)gaC>gaT p.D149D NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 149 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) TCCTGCGCGACGCCTGCACCT 0.662000 18 265 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292805 102292805 + RNA SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr15:102292805C>T ENST00000561463.1 + 0 851 GTCCAACCTGCACTCGCGTGG 0.602000 4 93 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237550598 237550598 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:237550598C>T ENST00000366574.2 + 9 911 c.594C>T c.(592-594)aaC>aaT p.N198N RYR2_ENST00000542537.1_Silent_p.N182N|RYR2_ENST00000360064.6_Silent_p.N196N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 198 MIR 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTATGGCAACGGCAGCTTAC 0.498000 55 346 0 0 1 0 0 TRDN 10345 broad.mit.edu 37 6 123869741 123869741 + Missense_Mutation SNP C C A TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr6:123869741C>A ENST00000334268.4 - 3 566 c.249G>T c.(247-249)aaG>aaT p.K83N TRDN_ENST00000398178.3_Missense_Mutation_p.K83N|TRDN_ENST00000546248.1_Missense_Mutation_p.K83N|TRDN_ENST00000542443.1_Missense_Mutation_p.K83N Q13061 TRDN_HUMAN triadin 83 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) CTGAGCCAATCTTGGCAATAG 0.333000 3 34 0.004672 0.00480841 1 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 168 0 0 1 0 0 PGBD2 0 broad.mit.edu 37 1 249212345 249212345 + Missense_Mutation SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:249212345C>T ENST00000355360.4 + 3 1079 c.809C>T c.(808-810)gCc>gTc p.A270V PGBD2_ENST00000539153.1_Missense_Mutation_p.A518V|PGBD2_ENST00000329291.5_Missense_Mutation_p.A521V NM_001017434.1 NP_001017434.1 Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 521 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AGATACATTGCCTGTGTGTAT 0.532000 5 263 0 0 1 0 0 LRP3 4037 broad.mit.edu 37 19 33696978 33696978 + Silent SNP C C T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:33696978C>T ENST00000253193.7 + 5 1504 c.1302C>T c.(1300-1302)gcC>gcT p.A434A NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 434 LDL-receptor class A 3. receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) ACACGCCTGCCGACCGCTGCA 0.667000 5 48 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78305282 78305282 + Missense_Mutation SNP A A T TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr15:78305282A>T ENST00000409931.3 - 9 2224 c.2153T>A c.(2152-2154)cTg>cAg p.L718Q TBC1D2B_ENST00000300584.3_Missense_Mutation_p.L718Q Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 718 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTTGTTGGGCAGAGTTCGCAG 0.547000 13 140 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA GA - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:16255142_16255143delGA ENST00000375759.3 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)gfs p.E803fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 7 488 --- --- --- --- ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 7 30 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 8 211 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 8 925 --- --- --- --- LRP8 7804 broad.mit.edu 37 1 53728211 53728211 + Frame_Shift_Del DEL C C - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:53728211delC ENST00000306052.6 - 11 1782 c.1681delG c.(1681-1683)acfs p.D561fs LRP8_ENST00000465675.1_Frame_Shift_Del_p.D114fs|LRP8_ENST00000354412.3_Frame_Shift_Del_p.D432fs|LRP8_ENST00000347547.2_Frame_Shift_Del_p.D391fs|LRP8_ENST00000371454.2_Frame_Shift_Del_p.D561fs NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 561 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 TTGGCCTGGTCCCCCCAGTCA 0.512 8 1202 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147092680 147092681 + Frame_Shift_Ins INS - - C rs35292683 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:147092680_147092681insC ENST00000234739.3 + 8 3459_3460 c.2719_2720insC c.(2719-2721)cccfs p.P907fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 907 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) TTCCATTAAGTCCCCCCCTGTT 0.619 T """IGH@, IGL@""" B-ALL 10 690 --- --- --- --- MUC1 4582 broad.mit.edu 37 1 155160784 155160793 + Frame_Shift_Del DEL GAGGAGGTGA GAGGAGGTGA - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:155160784_155160793delGAGGAGGTGA ENST00000368395.1 - 3 805_814 c.734_743delTCACCTCCTC c.(733-744)ccfs p.LTSS245fs MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000343256.5_Intron NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 1025 42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTGTGATTGGAGGAGGTGAGAGGAGGTAC 0.495 T IGH@ B-NHL 12 199 --- --- --- --- NES 10763 broad.mit.edu 37 1 156640920 156640920 + Frame_Shift_Del DEL T T - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:156640920delT ENST00000368223.3 - 4 3192 c.3060delA c.(3058-3060)aafs p.K1020fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1020 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTCTCTGCTCTTTGGGCTCAG 0.647 7 1212 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 10 437 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 11 375 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 7 432 --- --- --- --- XPC 7508 broad.mit.edu 37 3 14219966 14219968 + Splice_Site DEL CCT CCT - rs72561774 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr3:14219966_14219968delCCT ENST00000285021.7 - 1 315_317 c.103_splice c.e1+1 p.ED34_splice LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.ED34_splice NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 34 Glu-rich (acidic).|Poly-Glu. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.E34delE(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTCTCACCCTCCTCCTCCTC 0.734 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 7 222 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. 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) gtggtggtgatggtggtggtggt 0.502 8 887 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 9 300 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 7 834 --- --- --- --- INHBA 3624 broad.mit.edu 37 7 41729741 41729743 + In_Frame_Del DEL TTC TTC - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:41729741_41729743delTTC ENST00000242208.4 - 3 1032_1034 c.786_788delGAA c.(784-789)aaa>aa p.KK262del INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 262 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ctcctcttctttcttcttcttct 0.581 TSP Lung(11;0.080) 7 116 --- --- --- --- OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:44684936delT ENST00000222673.5 + 3 275 c.233delT c.(232-234)atfs p.I78fs OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R81fs*19(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 7 535 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 4 6 --- --- --- --- GRHL2 79977 broad.mit.edu 37 8 102649148 102649149 + Frame_Shift_Ins INS - - CTCT TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr8:102649148_102649149insCTCT ENST00000251808.3 + 12 1847_1848 c.1509_1510insCTCT c.(1507-1512)gagagafs p.ER503fs GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.ER487fs|GRHL2_ENST00000517674.1_3'UTR NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 503 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) CGGATGATGAACGAGAAGGGTA 0.421 36 430 --- --- --- --- RP11-324H6.5 0 broad.mit.edu 37 10 51786349 51786349 + RNA DEL T T - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr10:51786349delT ENST00000456967.1 - 0 1891 NR_038275.1 CTTCATGTACTTATGACAGCA 0.502 2 4 --- --- --- --- OVCH2 341277 broad.mit.edu 37 11 7720159 7720160 + RNA INS - - T rs71470493 by1000genomes TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:7720159_7720160insT ENST00000454689.1 - 0 925 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) GGCATAATGGCTGTAGGTGCTC 0.475 5 6 --- --- --- --- PRDM10 56980 broad.mit.edu 37 11 129784730 129784730 + Frame_Shift_Del DEL G G - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr11:129784730delG ENST00000358825.5 - 18 2953 c.2722delC c.(2722-2724)agfs p.Q908fs PRDM10_ENST00000360871.3_Frame_Shift_Del_p.Q904fs|PRDM10_ENST00000423662.2_Frame_Shift_Del_p.Q822fs|PRDM10_ENST00000526082.1_Frame_Shift_Del_p.Q822fs|PRDM10_ENST00000304538.6_Frame_Shift_Del_p.Q818fs|PRDM10_ENST00000528746.1_Frame_Shift_Del_p.Q878fs NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 908 Thr-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GTTAAGGTCTGGGACAGTTCT 0.567 7 1015 --- --- --- --- GCN1L1 10985 broad.mit.edu 37 12 120595737 120595739 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr12:120595737_120595739delCTC ENST00000300648.6 - 26 3013_3015 c.3001_3003delGAG c.(3001-3003)del p.E1001del NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1001 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGCCATCCACTCCTCCTCCTCC 0.631 7 284 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27250862 27250863 + Splice_Site DEL GT GT - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr13:27250862_27250863delGT ENST00000335327.5 + 7 894 c.e7+1 WASF3_ENST00000361042.4_Intron NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAGATACTAGGTGTGTGTGTGT 0.475 7 309 --- --- --- --- IGHV3-23 0 broad.mit.edu 37 14 106725714 106725715 + RNA INS - - G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr14:106725714_106725715insG ENST00000390609.2 - 0 18_19 ATCCCAGGGCTGGGCTCCTCTC 0.500 10 378 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 7 104 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 10 331 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 13 1247 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 8 633 --- --- --- --- TEAD2 8463 broad.mit.edu 37 19 49850472 49850473 + Frame_Shift_Ins INS - - G TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:49850472_49850473insG ENST00000377214.4 - 8 1254_1255 c.892_893insC c.(892-894)tgcfs p.C298fs TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs Q15562 TEAD2_HUMAN TEA domain family member 2 295 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.H295fs*12(1) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAAGAAGGCATGGGGGGGGCCA 0.564 13 1089 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 8 372 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 10 356 --- --- --- --- KRTAP10-6 386674 broad.mit.edu 37 21 46012219 46012220 + In_Frame_Ins INS - - GGGGCGCAGCAGCTG rs71199613 TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr21:46012219_46012220insGGGGCGCAGCAGCTG ENST00000400368.1 - 1 166_167 c.146_147insCAGCTGCTGCGCCCC c.(145-147)cgc>cCAGCTGCTGCGCCCCgc p.48_49insPAAAP TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 48 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGCAGGGGGCCGGGGCGCAGCA 0.688 8 126 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661174 22661174 + RNA DEL C C - TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr22:22661174delC ENST00000426066.1 + 0 266 NR_027293.1 TACAGGTTTTCCCCCCCCACC 0.403 12 89 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-2J-AABF-01A-31D-A40W-08 TCGA-2J-AABF-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f03eccd-d979-440b-bd2c-ff2a02b5f9d4 1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 10 358 --- --- --- ---