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 ARID1A 8289 broad.mit.edu 37 1 27101342 27101342 + Nonsense_Mutation SNP G G T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:27101342G>T ENST00000324856.7 + 18 4995 c.4624G>T c.(4624-4626)Gaa>Taa p.E1542* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1159*|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1542 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.E1542*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCCAACCACGAAGGCTCGTG 0.642000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 41 170 8.16277e-20 8.79555e-20 1 1 0 QRFPR 84109 broad.mit.edu 37 4 122258001 122258001 + Silent SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr4:122258001G>A ENST00000394427.2 - 3 933 c.522C>T c.(520-522)gtC>gtT p.V174V QRFPR_ENST00000334383.5_Silent_p.V174V NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 174 plasma membrane neuropeptide Y receptor activity endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 ATCCTACGATGACTGCCACCA 0.413000 152 721 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1522220 1522220 + Missense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:1522220C>T ENST00000389470.4 - 28 4150 c.4151G>A c.(4150-4152)cGc>cAc p.R1384H INTS1_ENST00000404767.3_Missense_Mutation_p.R1222H Q8N201 INT1_HUMAN integrator complex subunit 1 1222 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) ACGGATCATGCGCAGCTTCAG 0.667000 64 239 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 11 440 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21158753 21158753 + Silent SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr10:21158753G>A ENST00000377122.4 - 6 894 c.498C>T c.(496-498)gaC>gaT p.D166D NEBL_ENST00000377119.1_Silent_p.D166D|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 166 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGTCCTGCACGTCTTTCCTAT 0.358000 61 254 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr6:45390466A>G ENST00000371438.1 + 2 553 c.195A>G c.(193-195)caA>caG p.Q65Q RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 65 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 5 83 0 0 1 0 0 ZBED2 79413 broad.mit.edu 37 3 111312977 111312977 + Silent SNP C C T rs145211272 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr3:111312977C>T ENST00000317012.4 - 2 1080 c.72G>A c.(70-72)gaG>gaA p.E24E CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron NM_024508.4 NP_078784.2 Q9BTP6 ZBED2_HUMAN zinc finger, BED-type containing 2 24 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 TCTCTTCCTCCTCCTTCATCT 0.507000 9 295 0 0 1 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53726216 53726216 + Silent SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr16:53726216G>A ENST00000262135.4 - 4 384 c.291C>T c.(289-291)ggC>ggT p.G97G RPGRIP1L_ENST00000379925.3_Silent_p.G97G|RPGRIP1L_ENST00000563746.1_Silent_p.G97G|RPGRIP1L_ENST00000564374.1_Silent_p.G97G NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 97 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) GCTTGGGGCCGCCACCAACCC 0.423000 7 844 0 0 1 0 0 IQCF2 389123 broad.mit.edu 37 3 51897313 51897313 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr3:51897313G>A ENST00000333127.3 + 3 451 c.422G>A c.(421-423)tGc>tAc p.C141Y IQCF2_ENST00000429548.1_3'UTR NM_203424.1 NP_982248.1 Q8IXL9 IQCF2_HUMAN IQ motif containing F2 141 endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TGCCAGACCTGCGCTCTCCTC 0.567000 61 426 0 0 1 0 0 SLC3A1 6519 broad.mit.edu 37 2 44531289 44531289 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:44531289G>A ENST00000260649.6 + 7 1220 c.1144G>A c.(1144-1146)Ggg>Agg p.G382R SLC3A1_ENST00000409294.1_Missense_Mutation_p.G2R|SLC3A1_ENST00000409740.3_Missense_Mutation_p.G13R|SLC3A1_ENST00000409741.1_Missense_Mutation_p.G382R|SLC3A1_ENST00000409380.1_Missense_Mutation_p.G104R|SLC3A1_ENST00000409387.1_Missense_Mutation_p.G382R|SLC3A1_ENST00000409229.3_Missense_Mutation_p.G382R NM_000341.3 NP_000332.2 Q07837 SLC31_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 1 382 carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3) 26 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) TAGGTTCATGGGGACTGAAGC 0.458000 12 455 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65425585 65425585 + Silent SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr3:65425585C>T ENST00000330909.8 - 9 1238 c.1239G>A c.(1237-1239)caG>caA p.Q413Q MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q413Q NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 413 Poly-Gln. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) gctgctgctgctgctgttgct 0.537000 OREG0015658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 303 0 0 1 0 0 PCDHA2 0 broad.mit.edu 37 5 140176168 140176168 + Missense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr5:140176168C>T ENST00000526136.1 + 1 1619 c.1619C>T c.(1618-1620)gCg>gTg p.A540V PCDHA2_ENST00000520672.2_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A540V NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGGATGCGGGCGTGCCG 0.677000 5 478 0 0 1 0 0 MFSD2A 84879 broad.mit.edu 37 1 40421012 40421012 + Silent SNP A A G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:40421012A>G ENST00000372809.5 + 1 191 c.48A>G c.(46-48)ctA>ctG p.L16L MFSD2A_ENST00000372811.5_Silent_p.L16L|MFSD2A_ENST00000420632.2_5'UTR NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 16 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CGGGGCTGCTACCCACCAGCA 0.716000 4 57 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:203821508C>G ENST00000545588.1 + 17 6241 c.2414C>G c.(2413-2415)tCa>tGa p.S805* ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805* NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 805 nucleic acid binding|protein binding|zinc ion binding p.S805*(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTGAGCTATCAGAAATGATT 0.378000 6 213 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21607126 21607126 + Missense_Mutation SNP T T G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:21607126T>G ENST00000392288.2 + 4 1774 c.1665T>G c.(1663-1665)aaT>aaG p.N555K CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.N427K NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 AAGCTTTTAATCGGTCCTCAC 0.368000 6 254 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 6 237 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 10 540 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21607323 21607323 + Missense_Mutation SNP A A T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:21607323A>T ENST00000392288.2 + 4 1971 c.1862A>T c.(1861-1863)aAa>aTa p.K621I CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.K493I NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 493 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATACATAAGAAAATTCATACT 0.368000 15 220 0 0 1 0 0 PAWR 5074 broad.mit.edu 37 12 79990331 79990331 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr12:79990331G>A ENST00000328827.4 - 5 1163 c.791C>T c.(790-792)tCa>tTa p.S264L NM_002583.2 NP_002574.2 Q96IZ0 PAWR_HUMAN PRKC, apoptosis, WT1, regulator 264 actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 TGTGCTACTTGAAACCAGAGT 0.323000 47 259 0 0 1 0 0 STT3A 3703 broad.mit.edu 37 11 125476284 125476284 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr11:125476284G>A ENST00000392708.4 + 8 863 c.704G>A c.(703-705)cGg>cAg p.R235Q STT3A_ENST00000531491.1_Missense_Mutation_p.R143Q|STT3A_ENST00000529196.1_Missense_Mutation_p.R235Q NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 235 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|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;0.0996) TTCTCTCACCGGATCTATGTG 0.493000 7 653 0 0 1 0 0 KLHL5 51088 broad.mit.edu 37 4 39088270 39088270 + Missense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr4:39088270C>T ENST00000261425.3 + 6 1188 c.1036C>T c.(1036-1038)Cgt>Tgt p.R346C KLHL5_ENST00000508137.2_Missense_Mutation_p.R205C|KLHL5_ENST00000381930.3_Missense_Mutation_p.R392C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R331C|KLHL5_ENST00000504108.1_Missense_Mutation_p.R392C|KLHL5_ENST00000359687.2_Missense_Mutation_p.R392C NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 392 cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 TACTTGGGTCCGTCATGATTT 0.388000 5 392 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1268340 1268340 + Silent SNP A A T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr11:1268340A>T ENST00000447027.1 + 31 10297 c.10239A>T c.(10237-10239)ccA>ccT p.P3413P MUC5B_ENST00000529681.1_Silent_p.P3410P|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3410 17 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 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) cctcaactccagggacaactc 0.637000 4 38 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153244139 153244139 + Nonsense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr4:153244139C>T ENST00000281708.4 - 12 3247 c.2018G>A c.(2017-2019)tGg>tAg p.W673* FBXW7_ENST00000296555.5_Nonsense_Mutation_p.W555*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.W673*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.W673*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.W497*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.W593* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 673 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCTGATCCGCCACACAACTCC 0.498000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 88 619 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105263381 105263381 + Missense_Mutation SNP A A C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr8:105263381A>C ENST00000507740.1 + 21 3499 c.3263A>C c.(3262-3264)aAa>aCa p.K1088T RIMS2_ENST00000406091.3_Missense_Mutation_p.K1274T|RIMS2_ENST00000436393.2_Missense_Mutation_p.K1292T|RIMS2_ENST00000262231.10_Missense_Mutation_p.K1113T|RIMS2_ENST00000339750.2_Missense_Mutation_p.K210T NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1336 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCACAAGGAAAAGTTTTACAG 0.368000 HNSCC(12;0.0054) 13 67 0 0 1 0 0 ZNF35 7584 broad.mit.edu 37 3 44700479 44700479 + Silent SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr3:44700479C>T ENST00000396056.2 + 4 859 c.624C>T c.(622-624)ggC>ggT p.G208G ZNF35_ENST00000542250.1_Silent_p.G48G|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 208 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G208G(1) large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) TTAATTCTGGCGCTGTTAAAA 0.413000 7 652 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25459873 25459873 + Splice_Site SNP G G A rs35824014 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:25459873G>A ENST00000264709.3 - 21 2747 c.2408_splice c.e21-1 p.P804_splice DNMT3A_ENST00000380746.4_Splice_Site_p.P615_splice|DNMT3A_ENST00000474887.1_Intron|DNMT3A_ENST00000402667.1_Splice_Site_p.P581_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.P804_splice NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 804 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.R803fs*5(3)|p.P804S(2)|p.P615S(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATGCCAACGGCCTAGGAGGC 0.582000 """Mis, F, N, S""" AML 19 94 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 5 422 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129096387 129096387 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:129096387G>A ENST00000249344.2 + 9 982 c.942G>A c.(940-942)atG>atA p.M314I STRIP2_ENST00000435494.2_Missense_Mutation_p.M314I NM_020704.2 NP_065755.1 striatin interacting protein 2 TGAAGAGCATGCGTGCTGCCT 0.597000 69 299 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T rs55749440 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:207787753C>T ENST00000367049.4 + 40 6580 c.6580C>T c.(6580-6582)Cga>Tga p.R2194* CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744* NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1744 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.R1749*(9)|p.R2194*(9)|p.R1744*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTTTAGGTTCCGATTAAAAGG 0.423000 5 201 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168463 25168463 + RNA SNP T T C rs61946940 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr13:25168463T>C ENST00000453498.1 + 0 1135 TGACAGTCCATCTCTGTACGA 0.363000 7 113 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30924630 30924630 + Missense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr8:30924630C>T ENST00000298139.5 + 6 835 c.586C>T c.(586-588)Cgc>Tgc p.R196C NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 196 3'-5' exonuclease.|Interaction with WRNIP1 (By similarity). base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CAAGTCTATCCGCTGTAGCAA 0.413000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 48 274 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21806573 21806573 + Missense_Mutation SNP A A G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:21806573A>G ENST00000318220.6 + 14 2118 c.1070A>G c.(1069-1071)gAg>gGg p.E357G NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 413 NBPF 2. cytoplasm p.E413G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GATGAGAAAGAGCCTGAAGTC 0.463000 7 423 0 0 1 0 0 ACSL3 2181 broad.mit.edu 37 2 223782842 223782842 + Missense_Mutation SNP C C A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:223782842C>A ENST00000357430.3 + 6 1166 c.635C>A c.(634-636)aCt>aAt p.T212N AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T212N NM_004457.3 NP_004448.2 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 212 long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2) 22 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) AACATCATTACTAGTAAAGAA 0.373000 T ETV1 prostate 5 528 0.000602214 0.000606578 1 1 0 MYL3 4634 broad.mit.edu 37 3 46902285 46902285 + Missense_Mutation SNP C C T rs139354105 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr3:46902285C>T ENST00000395869.1 - 3 239 c.188G>A c.(187-189)cGc>cAc p.R63H MYL3_ENST00000292327.4_Missense_Mutation_p.R63H P08590 MYL3_HUMAN myosin, light chain 3, alkali; ventricular, skeletal, slow 63 EF-hand 1. cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle breast(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) CTTGGGTGTGCGGTCGAACAG 0.622000 5 553 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43590047 43590047 + Missense_Mutation SNP A A G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:43590047A>G ENST00000395891.1 + 27 4857 c.4252A>G c.(4252-4254)Acg>Gcg p.T1418A HECW1_ENST00000453890.1_Missense_Mutation_p.T1384A NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1418 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CTACAAGGTCACGGAAAGGGA 0.507000 5 105 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179431867 179431867 + Missense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:179431867C>T ENST00000589042.1 - 326 79216 c.78992G>A c.(78991-78993)cGa>cAa p.R26331Q TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23763Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17391Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17266Q|TTN_ENST00000342175.6_Missense_Mutation_p.R17458Q|TTN_ENST00000591111.1_Missense_Mutation_p.R24690Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24690 Ig-like 127. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAGGCAAGTCGACTGGTTTC 0.413000 95 393 0 0 1 0 0 FAM86FP 0 broad.mit.edu 37 12 8386955 8386955 + RNA SNP T T C rs75997195 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr12:8386955T>C ENST00000427893.2 - 0 811 CTTGTGCTCCTGGCAGGCAGC 0.612000 13 429 0 0 1 0 0 LURAP1L 286343 broad.mit.edu 37 9 12821607 12821607 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr9:12821607G>A ENST00000319264.3 + 2 1230 c.535G>A c.(535-537)Gtg>Atg p.V179M NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 182 TGGCATTTCCGTGGGAAGTTA 0.547000 5 314 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21607321 21607321 + Silent SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:21607321G>A ENST00000392288.2 + 4 1969 c.1860G>A c.(1858-1860)aaG>aaA p.K620K CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.K492K NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 GTATACATAAGAAAATTCATA 0.378000 15 224 0 0 1 0 0 LY86 9450 broad.mit.edu 37 6 6589102 6589102 + Splice_Site SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr6:6589102C>T ENST00000379953.2 + 2 487 c.136_splice c.e2+1 p.C45_splice LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000435641.1_RNA|LY86_ENST00000230568.4_Splice_Site_p.C45_splice O95711 LY86_HUMAN lymphocyte antigen 86 45 apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response extracellular space|plasma membrane large_intestine(2)|lung(6) 8 Ovarian(93;0.0377) ACCAGAGTTGCGGTAAGCCCT 0.587000 49 184 0 0 1 0 0 PSMB4 5692 broad.mit.edu 37 1 151372561 151372561 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:151372561G>A ENST00000290541.6 + 2 299 c.245G>A c.(244-246)cGc>cAc p.R82H NM_002796.2 NP_002787.2 P28070 PSB4_HUMAN proteasome (prosome, macropain) subunit, beta type, 4 82 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCTCGTTTCCGCAACATCTCT 0.562000 6 800 0 0 1 0 0 RNF8 9025 broad.mit.edu 37 6 37349011 37349011 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr6:37349011G>A ENST00000373479.4 + 7 1515 c.1322G>A c.(1321-1323)cGg>cAg p.R441Q RNF8_ENST00000469731.1_Intron NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 441 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 CCCATTTGTCGGAAGGACATT 0.413000 5 428 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29559101 29559101 + Nonsense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr17:29559101C>T ENST00000358273.4 + 25 3591 c.3208C>T c.(3208-3210)Cag>Tag p.Q1070* NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1070* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1070 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGATTTGGACCAGGCAAGCAT 0.373000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 11 51 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628273 29628273 + Missense_Mutation SNP A A G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr20:29628273A>G ENST00000278882.3 + 6 655 c.275A>G c.(274-276)aAt>aGt p.N92S FRG1B_ENST00000439954.2_Missense_Mutation_p.N97S|FRG1B_ENST00000358464.4_Missense_Mutation_p.N92S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATTAGATGCAATGAAGCAGGG 0.373000 6 493 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390463 45390463 + Silent SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr6:45390463G>A ENST00000371438.1 + 2 550 c.192G>A c.(190-192)caG>caA p.Q64Q RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 64 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcagcaacagcagc 0.736000 4 88 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48604705 48604705 + Nonsense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr18:48604705G>A ENST00000342988.3 + 12 2065 c.1527G>A c.(1525-1527)tgG>tgA p.W509* SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.W509*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.W413* NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 509 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2)|p.W509*(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGAAAGGCTGGGGACCGGATT 0.473000 56 249 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 5 287 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 10 536 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79029066 79029066 + Missense_Mutation SNP A A G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr5:79029066A>G ENST00000446378.2 + 2 4509 c.4478A>G c.(4477-4479)gAc>gGc p.D1493G NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1493 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGGGTAGAAGACAAACAAGAT 0.398000 79 532 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124857652 124857652 + Silent SNP G G A rs111966038 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr11:124857652G>A ENST00000529051.1 + 8 1789 c.1530G>A c.(1528-1530)ttG>ttA p.L510L CCDC15_ENST00000344762.5_Silent_p.L510L Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 510 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AGAATTTTTTGTCTAGAGACC 0.388000 7 707 0 0 1 0 0 MAP3K12 7786 broad.mit.edu 37 12 53877780 53877780 + Missense_Mutation SNP G G T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr12:53877780G>T ENST00000267079.2 - 9 1399 c.1174C>A c.(1174-1176)Ctg>Atg p.L392M MAP3K12_ENST00000547488.1_Missense_Mutation_p.L425M|MAP3K12_ENST00000547035.1_Missense_Mutation_p.L425M NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 392 Leucine-zipper 1. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 TCAAAGTGCAGTTTTACTTCT 0.537000 8 367 3.28013e-08 3.40252e-08 1 1 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 11 900 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430101 43430101 + RNA SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:43430101G>A ENST00000406070.2 - 0 1163 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GTTAGAGTCCGCAAAGCAGGA 0.448000 8 930 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200950209 200950209 + Silent SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:200950209C>T ENST00000332129.2 - 28 4135 c.3819G>A c.(3817-3819)ccG>ccA p.P1273P KIF21B_ENST00000360529.5_Silent_p.P1273P|KIF21B_ENST00000422435.2_Silent_p.P1286P|KIF21B_ENST00000461742.2_Silent_p.P1286P NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1286 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTCCTCCAACCGGGGAGATGA 0.637000 32 194 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 9 426 0 0 1 0 0 HOXA4 3201 broad.mit.edu 37 7 27169037 27169037 + Missense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:27169037C>T ENST00000360046.5 - 2 835 c.770G>A c.(769-771)cGc>cAc p.R257H HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_5'UTR|HOXA4_ENST00000428284.2_Missense_Mutation_p.R257H NM_002141.4 NP_002132.3 Q00056 HXA4_HUMAN homeobox A4 257 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6) 12 CTTGACCTGGCGCTCAGACAA 0.572000 83 413 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 5 115 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276366 186276366 + Silent SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:186276366G>A ENST00000445192.2 + 7 1560 c.1515G>A c.(1513-1515)gaG>gaA p.E505E PRG4_ENST00000367483.4_Silent_p.E464E|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.E412E|PRG4_ENST00000367486.3_Silent_p.E462E NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 505 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 CTCCCAAGGAGCCTGCACCCA 0.647000 6 555 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1092201 1092201 + Silent SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr11:1092201G>A ENST00000441003.2 + 30 4047 c.4020G>A c.(4018-4020)tcG>tcA p.S1340S MUC2_ENST00000361558.6_Silent_p.S6S|MUC2_ENST00000359061.5_Silent_p.S1341S NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1340 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGTGCAGGTCGGTCAAGGATC 0.557000 19 104 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112663 248112663 + Silent SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:248112663C>T ENST00000357191.3 + 1 504 c.504C>T c.(502-504)tgC>tgT p.C168C OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTCCTTATTGCCGATCCAGGG 0.473000 5 456 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 9 96 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541374 133541374 + Missense_Mutation SNP T T C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:133541374T>C ENST00000409261.1 - 14 3383 c.3010A>G c.(3010-3012)Atc>Gtc p.I1004V NCKAP5_ENST00000317721.6_Missense_Mutation_p.I1004V|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1004 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGAGTGAAGATAGGCTTTTTG 0.537000 20 110 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 4 108 0.000602214 0.000606578 1 1 0 GUCA1B 2979 broad.mit.edu 37 6 42152645 42152645 + Missense_Mutation SNP G G T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr6:42152645G>T ENST00000230361.3 - 4 606 c.511C>A c.(511-513)Cgt>Agt p.R171S NM_002098.5 NP_002089.4 Q9UMX6 GUC1B_HUMAN guanylate cyclase activator 1B (retina) 171 EF-hand 4. body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception plasma membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity large_intestine(3)|lung(3)|skin(2) 8 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177) TTGTCCCGACGGGCACCTTCA 0.577000 5 298 1.23904e-05 1.26637e-05 1 1 0 C17orf97 400566 broad.mit.edu 37 17 263666 263666 + Silent SNP C C T rs111388956 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr17:263666C>T ENST00000360127.6 + 2 1048 c.1032C>T c.(1030-1032)ggC>ggT p.G344G AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 374 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. p.G344G(2) breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 CCCTCAAGGGCTTCCACCCCG 0.687000 15 302 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 4 209 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 8 643 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168471 25168471 + RNA SNP C C T rs61946941 by1000genomes TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr13:25168471C>T ENST00000453498.1 + 0 1143 CATCTCTGTACGATGATGTGA 0.358000 9 122 0 0 1 0 0 NCAPH 23397 broad.mit.edu 37 2 97019996 97019996 + Missense_Mutation SNP G G T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:97019996G>T ENST00000455200.1 + 9 1340 c.1045G>T c.(1045-1047)Gac>Tac p.D349Y NCAPH_ENST00000427946.1_Missense_Mutation_p.D224Y|NCAPH_ENST00000240423.4_Missense_Mutation_p.D360Y Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 360 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) TGACGAGAGTGACTGTGGAGA 0.512000 91 582 1.56974e-57 1.70464e-57 1 1 0 NBPF3 84224 broad.mit.edu 37 1 21806606 21806606 + Missense_Mutation SNP T T G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:21806606T>G ENST00000318220.6 + 14 2151 c.1103T>G c.(1102-1104)tTt>tGt p.F368C NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 424 NBPF 2. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CTGGATAGATTTTATTCAACT 0.468000 6 436 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53304471 53304471 + Missense_Mutation SNP G G C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:53304471G>C ENST00000438150.2 - 2 1361 c.468C>G c.(466-468)caC>caG p.H156Q ZNF28_ENST00000457749.2_Missense_Mutation_p.H209Q|ZNF28_ENST00000414252.2_Missense_Mutation_p.H156Q|ZNF28_ENST00000360272.4_Missense_Mutation_p.H156Q P17035 ZNF28_HUMAN zinc finger protein 28 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TTTCTCTCATGTGTACATTCC 0.333000 79 581 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 6 431 0 0 1 0 0 FAM86FP 0 broad.mit.edu 37 12 8386973 8386973 + RNA SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr12:8386973C>T ENST00000427893.2 - 0 793 AGCCAGCCTCCGCAGGACCCC 0.592000 8 369 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8891668 8891668 + Missense_Mutation SNP C C A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:8891668C>A ENST00000256707.3 - 23 3299 c.3118G>T c.(3118-3120)Gtg>Ttg p.V1040L KIDINS220_ENST00000427284.1_Missense_Mutation_p.V1040L|KIDINS220_ENST00000473731.1_Missense_Mutation_p.V1040L|KIDINS220_ENST00000418530.1_Missense_Mutation_p.V998L NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1040 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TCTCGAGCCACAAGAACTGGG 0.353000 53 286 2.48909e-17 2.66141e-17 1 1 0 UBB 7314 broad.mit.edu 37 17 16285542 16285542 + Silent SNP G G A rs17052364 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr17:16285542G>A ENST00000302182.3 + 2 713 c.321G>A c.(319-321)caG>caA p.Q107Q UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.Q107Q|UBB_ENST00000395839.1_Silent_p.Q107Q|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 107 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.Q107Q(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) CCAAGATCCAGGATAAAGAAG 0.537000 5 422 0 0 1 0 0 MOGS 7841 broad.mit.edu 37 2 74688883 74688883 + Missense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:74688883C>T ENST00000233616.4 - 4 2195 c.2033G>A c.(2032-2034)cGg>cAg p.R678Q MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.R572Q NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 678 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 AGGTTGGGGCCGACCCACCAC 0.597000 53 312 0 0 1 0 0 RBM14 10432 broad.mit.edu 37 11 66392698 66392698 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr11:66392698G>A ENST00000310137.4 + 2 1490 c.1351G>A c.(1351-1353)Gca>Aca p.A451T RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409738.4_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 451 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 AGCCTACGCCGCACAAGCCAC 0.617000 8 857 0 0 1 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:197657782C>T ENST00000263956.3 - 3 398 c.309G>A c.(307-309)gaG>gaA p.E103E GTF3C3_ENST00000409364.3_Silent_p.E103E NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 103 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding p.E103E(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 cctcctcctcctcttcttcct 0.468000 4 240 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 6 259 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25264736 25264736 + Missense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr22:25264736C>T ENST00000400358.4 + 12 1262 c.1205C>T c.(1204-1206)gCc>gTc p.A402V SGSM1_ENST00000400359.4_Missense_Mutation_p.A402V NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 402 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CAGGGTTCTGCCGAGTCCACA 0.512000 6 474 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7230223 7230223 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr6:7230223G>A ENST00000379938.2 + 10 2428 c.1891G>A c.(1891-1893)Ggc>Agc p.G631S RREB1_ENST00000379933.3_Missense_Mutation_p.G631S|RREB1_ENST00000349384.6_Missense_Mutation_p.G631S|RREB1_ENST00000334984.6_Missense_Mutation_p.G631S NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 631 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GACAGCGCCCGGCGGCAAGAA 0.637000 4 108 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 13 360 0 0 1 0 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G G T rs149004156 by1000genomes TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr11:320606G>T ENST00000399808.4 - 1 444 c.208C>A c.(208-210)Ccc>Acc p.P70T RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(3) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 10 493 8.00594e-06 8.24315e-06 1 1 0 SPTBN2 6712 broad.mit.edu 37 11 66457286 66457286 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr11:66457286G>A ENST00000533211.1 - 29 6270 c.5939C>T c.(5938-5940)gCg>gTg p.A1980V SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1980V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1980V O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1980 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CTCCTCGGCCGCATAGTGGCT 0.602000 5 451 0 0 1 0 0 PARP6 56965 broad.mit.edu 37 15 72557486 72557486 + Silent SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr15:72557486G>A ENST00000569795.1 - 7 951 c.264C>T c.(262-264)gtC>gtT p.V88V PARP6_ENST00000260376.7_Silent_p.V88V|PARP6_ENST00000287196.9_Silent_p.V88V|PARP6_ENST00000413097.2_5'UTR Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 88 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 CTGTCCGGAGGACCTTCCAGG 0.473000 6 115 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 10 540 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887387 155887387 + Missense_Mutation SNP T T G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:155887387T>G ENST00000368320.3 - 11 1368 c.1343A>C c.(1342-1344)cAg>cCg p.Q448P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q448P Q7Z7F0 K0907_HUMAN KIAA0907 448 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.577000 7 153 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21607078 21607078 + Silent SNP C C T rs145361856 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:21607078C>T ENST00000392288.2 + 4 1726 c.1617C>T c.(1615-1617)caC>caT p.H539H CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.H411H NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 411 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 AAATGATTCACACTGGAGAAA 0.353000 5 247 0 0 1 0 0 ACCS 84680 broad.mit.edu 37 11 44089316 44089316 + Missense_Mutation SNP C C G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr11:44089316C>G ENST00000263776.8 + 2 573 c.139C>G c.(139-141)Ctc>Gtc p.L47V ACCS_ENST00000432284.2_Missense_Mutation_p.L47V|ACCS_ENST00000533208.1_3'UTR NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 47 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 GCTGCCAGAGCTCCGTGGAGT 0.552000 35 205 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12920033 12920033 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:12920033G>A ENST00000240189.2 + 3 860 c.773G>A c.(772-774)aGa>aAa p.R258K NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 258 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTAGTCACCAGATTCACCTCT 0.448000 6 404 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 8 395 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462047 50462047 + Missense_Mutation SNP A A C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:50462047A>C ENST00000447370.2 - 7 1306 c.1216T>G c.(1216-1218)Tgg>Ggg p.W406G SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 406 Ig-like C2-type 3. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GTCTGTCCCCACCGGGTCCAG 0.682000 5 319 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53960290 53960290 + RNA SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:53960290C>T ENST00000454407.1 + 0 2982 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TCGCACCTGGCACAACATGCT 0.438000 10 88 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6107417 6107417 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr4:6107417G>A ENST00000409021.3 - 3 856 c.407C>T c.(406-408)gCg>gTg p.A136V JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.A136V|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.A136V NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 136 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTCCTCGCGCGCCTCGGTCAG 0.706000 14 60 0 0 1 0 0 SQSTM1 8878 broad.mit.edu 37 5 179247944 179247944 + Missense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr5:179247944C>T ENST00000389805.4 + 1 186 c.8C>T c.(7-9)tCg>tTg p.S3L SQSTM1_ENST00000402874.3_5'UTR|SQSTM1_ENST00000376929.3_Intron|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S3L NM_003900.4 NP_003891.1 Q13501 SQSTM_HUMAN sequestosome 1 3 Interaction with LCK. anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTATGGCGTCGCTCACCGTG 0.711000 6 82 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329453 88329453 + Missense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr13:88329453C>T ENST00000325089.6 + 2 2029 c.1810C>T c.(1810-1812)Cgc>Tgc p.R604C SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 604 LRRCT 2. integral to membrane p.R604C(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GACCGACATGCGCTCCATTAA 0.567000 6 847 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628270 29628270 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr20:29628270G>A ENST00000278882.3 + 6 652 c.272G>A c.(271-273)tGc>tAc p.C91Y FRG1B_ENST00000439954.2_Missense_Mutation_p.C96Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.C91Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTATTAGATGCAATGAAGCA 0.363000 22 497 0 0 1 0 0 BLVRA 644 broad.mit.edu 37 7 43810766 43810766 + Silent SNP A A T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:43810766A>T ENST00000402924.1 + 3 172 c.9A>T c.(7-9)gcA>gcT p.A3A BLVRA_ENST00000265523.4_Silent_p.A3A NM_001253823.1 NP_001240752.1 P53004 BIEA_HUMAN biliverdin reductase A 3 A -> T (in dbSNP:rs699512). heme catabolic process cytosol biliverdin reductase activity|zinc ion binding endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) AGATGAATGCAGAGGTGAGTT 0.463000 42 199 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 4 133 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821496 203821496 + Missense_Mutation SNP T T C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:203821496T>C ENST00000545588.1 + 17 6229 c.2402T>C c.(2401-2403)cTg>cCg p.L801P ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 801 nucleic acid binding|protein binding|zinc ion binding p.L801P(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GATGACCTTCTGCTTGAGCTA 0.388000 5 229 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68692367 68692367 + Missense_Mutation SNP T T A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr5:68692367T>A ENST00000509734.1 + 15 2277 c.1599T>A c.(1597-1599)aaT>aaA p.N533K RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 533 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TTCTAATAAATAAAAAGGTAA 0.338000 Other conserved DNA damage response genes 11 68 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40405540 40405540 + Missense_Mutation SNP C C A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:40405540C>A ENST00000542756.1 - 3 1925 c.1902G>T c.(1900-1902)atG>atT p.M634I SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000406785.1_Intron|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.M634I|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.M634I|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.M634I|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 634 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCTTCTCACTCATCTCCACCA 0.507000 13 660 1.36491e-13 1.44826e-13 1 1 0 AOC1 26 broad.mit.edu 37 7 150553842 150553842 + Missense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:150553842G>A ENST00000493429.1 + 4 868 c.284G>A c.(283-285)cGg>cAg p.R95Q AOC1_ENST00000416793.2_Missense_Mutation_p.R95Q|AOC1_ENST00000467291.1_Missense_Mutation_p.R95Q|AOC1_ENST00000360937.4_Missense_Mutation_p.R95Q amine oxidase, copper containing 1 CATCCTGTGCGGGAAGCCCGT 0.567000 10 489 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 9 891 0 0 1 0 0 KLHL24 54800 broad.mit.edu 37 3 183368717 183368717 + Silent SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr3:183368717G>A ENST00000454652.1 + 4 959 c.573G>A c.(571-573)gcG>gcA p.A191A KLHL24_ENST00000476808.1_Silent_p.A191A|KLHL24_ENST00000242810.6_Silent_p.A191A Q6TFL4 KLH24_HUMAN kelch-like family member 24 191 BACK. axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) AAAATTTTGCGTTACAGACTT 0.368000 8 390 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93967819 93967819 + Missense_Mutation SNP C C T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr6:93967819C>T ENST00000369303.4 - 11 2292 c.2108G>A c.(2107-2109)aGa>aAa p.R703K NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 703 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATATCTACCTCTTGTAACAAC 0.343000 44 181 0 0 1 0 0 DMP1 1758 broad.mit.edu 37 4 88583927 88583927 + Missense_Mutation SNP G G A rs147275271 byFrequency TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr4:88583927G>A ENST00000339673.6 + 6 1096 c.997G>A c.(997-999)Gta>Ata p.V333I RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.V317I NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 333 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GAGCCAAAACGTAGATGGTCC 0.547000 33 235 0 0 1 0 0 CUL4A 8451 broad.mit.edu 37 13 113907464 113907464 + Nonsense_Mutation SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr13:113907464G>A ENST00000451881.1 + 16 1656 c.1407G>A c.(1405-1407)tgG>tgA p.W469* CUL4A_ENST00000375441.3_Nonsense_Mutation_p.W469*|CUL4A_ENST00000326335.4_Nonsense_Mutation_p.W469*|CUL4A_ENST00000375440.4_Nonsense_Mutation_p.W569* NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 569 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) AACTTCAGTGGCAAACTACTT 0.299000 5 376 0 0 1 0 0 PIGM 93183 broad.mit.edu 37 1 160000872 160000872 + Missense_Mutation SNP T T C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:160000872T>C ENST00000368090.2 - 1 911 c.658A>G c.(658-660)Aaa>Gaa p.K220E NM_145167.2 NP_660150.1 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, class M 220 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CACAGCCTTTTCAGGAGCTCG 0.493000 5 552 0 0 1 0 0 PSMD8 5714 broad.mit.edu 37 19 38874009 38874009 + Silent SNP G G A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:38874009G>A ENST00000215071.4 + 7 1098 c.1032G>A c.(1030-1032)cgG>cgA p.R344R PSMD8_ENST00000602911.1_Silent_p.R281R NM_002812.4 NP_002803.2 P48556 PSMD8_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 344 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome regulatory particle protein binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1) 6 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGTATGCCCGGCAGCTGGAGA 0.562000 4 146 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8716284 8716285 + Frame_Shift_Del DEL TC TC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:8716284_8716285delTC ENST00000337907.3 - 3 706_707 c.72_73delGA c.(70-75)gaaafs p.EK24fs RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 24 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TTGTCTCTTTTCtctctctctc 0.505 8 653 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 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 9 963 --- --- --- --- SLC6A9 6536 broad.mit.edu 37 1 44489938 44489938 + Frame_Shift_Del DEL T T - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:44489938delT ENST00000372310.3 - 2 177 c.12delA c.(10-12)aafs p.K4fs SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 335 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CTTTGGCACCTTTTCCTACCA 0.627 7 1446 --- --- --- --- NGF 4803 broad.mit.edu 37 1 115828721 115828722 + Frame_Shift_Del DEL CA CA - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:115828721_115828722delCA ENST00000369512.2 - 3 863_864 c.695_696delTG c.(694-696)gfs p.V232fs RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 232 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TCCTGCTGAGCACACACACACA 0.579 7 433 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 16 48 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109312 145109313 + RNA INS - - A rs148903206 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:145109312_145109313insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding aaaccaaaaacaaaAAAAAAAG 0.416 7 8 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)del p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 12 967 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 10 375 --- --- --- --- APOBEC4 403314 broad.mit.edu 37 1 183616826 183616828 + In_Frame_Del DEL TTC TTC - rs141411396 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:183616826_183616828delTTC ENST00000308641.4 - 2 1360_1362 c.1089_1091delGAA c.(1087-1092)aaa>aa p.KK363del APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 363 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TTTCTTCCCTTTCTTCTTCTTCT 0.419 7 589 --- --- --- --- EPHX1 2052 broad.mit.edu 37 1 226026384 226026384 + Frame_Shift_Del DEL C C - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr1:226026384delC ENST00000366837.4 + 4 590 c.394delC c.(394-396)ccfs p.P133fs EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 133 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) CCACGTGAAGCCCCCCCAGCT 0.627 7 926 --- --- --- --- APOB 338 broad.mit.edu 37 2 21225066 21225069 + Frame_Shift_Del DEL GACT GACT - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:21225066_21225069delGACT ENST00000233242.1 - 29 13352_13355 c.13225_13228delAGTC c.(13225-13230)tgfs p.SL4409fs NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4409 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCTTGATCAGACTGACTATCTTT 0.373 40 269 --- --- --- --- AC007092.1 0 broad.mit.edu 37 2 58688842 58688843 + RNA DEL CT CT - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:58688842_58688843delCT ENST00000452840.1 + 0 127 TCTCTGCTAGCTCTCTCTCTCT 0.465 7 152 --- --- --- --- OTX1 5013 broad.mit.edu 37 2 63283259 63283261 + In_Frame_Del DEL CCA CCA - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:63283259_63283261delCCA ENST00000282549.2 + 5 1149_1151 c.873_875delCCA c.(871-876)ggc>gg p.GH291del OTX1_ENST00000366671.3_In_Frame_Del_p.GH291del NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 291 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) AGTCCTCAGGccaccaccaccac 0.640 8 345 --- --- --- --- TMEM37 140738 broad.mit.edu 37 2 120194962 120194962 + Frame_Shift_Del DEL C C - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:120194962delC ENST00000306406.4 + 2 554 c.519delC c.(517-519)ttfs p.F173fs TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Frame_Shift_Del_p.F185fs NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 173 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 TCCTCCTCTTCCTGAACGCCA 0.537 206 1005 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 36 --- --- --- --- GTF3C3 9330 broad.mit.edu 37 2 197636516 197636516 + Frame_Shift_Del DEL T T - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr2:197636516delT ENST00000263956.3 - 15 2305 c.2216delA c.(2215-2217)atfs p.N739fs NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 739 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ATTGTGTCCATTTAAGACACA 0.428 52 225 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 7 503 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 11 1219 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 12 1004 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 10 360 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 7 42 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 7 64 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 7 303 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 11 48 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 12 1043 --- --- --- --- LARP1 23367 broad.mit.edu 37 5 154173389 154173390 + Frame_Shift_Ins INS - - C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr5:154173389_154173390insC ENST00000336314.4 + 6 691_692 c.667_668insC c.(667-669)cccfs p.P223fs NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 300 protein binding|RNA binding p.T303fs*19(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CGTGCCCGTGGCCCCCCCCACC 0.644 18 933 --- --- --- --- BACH2 60468 broad.mit.edu 37 6 90660846 90660847 + Frame_Shift_Ins INS - - G TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr6:90660846_90660847insG ENST00000257749.4 - 7 1685_1686 c.978_979insC c.(976-981)gccctgfs p.L327fs BACH2_ENST00000537989.1_Frame_Shift_Ins_p.L327fs|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Frame_Shift_Ins_p.L327fs|RP3-512E2.2_ENST00000445838.1_RNA NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 327 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TCCAGGCAGGCGGCCCCAGCTG 0.634 7 183 --- --- --- --- MLLT4 4301 broad.mit.edu 37 6 168299092 168299092 + Frame_Shift_Del DEL G G - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr6:168299092delG ENST00000366806.2 + 11 1667 c.1525delG c.(1525-1527)cafs p.A509fs MLLT4_ENST00000351017.4_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.A509fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.A508fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.A493fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.A509fs P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 509 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TCATGCTCTTGCAAAAAGATC 0.438 T MLL AL 29 182 --- --- --- --- ACTB 60 broad.mit.edu 37 7 5569258 5569260 + In_Frame_Del DEL CGA CGA - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:5569258_5569260delCGA ENST00000331789.5 - 2 220_222 c.29_31delTCG c.(28-33)gac>g p.VD10del NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 10 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) GAGCCGTTGTCGACGACGAGCGC 0.719 38 244 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284925 38284934 + RNA DEL TGTGACTGTG TGTGACTGTG - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:38284925_38284934delTGTGACTGTG ENST00000436911.2 - 0 330 tgagtgtgtctgtgactgtgtgtAATTAAA 0.371 7 147 --- --- --- --- AUTS2 26053 broad.mit.edu 37 7 70255577 70255579 + In_Frame_Del DEL CCA CCA - rs35604576 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:70255577_70255579delCCA ENST00000342771.4 + 19 3696_3698 c.3375_3377delCCA c.(3373-3378)agc>ag p.SH1125del AUTS2_ENST00000406775.2_In_Frame_Del_p.SH1101del NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1125 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) ACGACTACAGccaccaccaccac 0.680 7 46 --- --- --- --- RP11-306G20.1 0 broad.mit.edu 37 7 129619178 129619179 + RNA DEL TT TT - rs72484499 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:129619178_129619179delTT ENST00000587038.1 + 0 247 atgcccggcctttttttttttt 0.574 4 7 --- --- --- --- ATP6V0A4 50617 broad.mit.edu 37 7 138394465 138394466 + Frame_Shift_Ins INS - - C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:138394465_138394466insC ENST00000310018.2 - 21 2614_2615 c.2332_2333insG c.(2332-2334)tttfs p.F778fs ATP6V0A4_ENST00000393054.1_Frame_Shift_Ins_p.F778fs|ATP6V0A4_ENST00000353492.4_Frame_Shift_Ins_p.F778fs NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 778 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AATAATAAAAACCCCGACGATT 0.530 9 849 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 8 213 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 7 232 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 20 60 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733713 81733713 + Frame_Shift_Del DEL T T - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr8:81733713delT ENST00000327835.3 - 2 348 c.117delA c.(115-117)aafs p.K39fs NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 39 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TCCGGCTGGCTTTTTTGGTGT 0.428 7 1346 --- --- --- --- ZC3H3 23144 broad.mit.edu 37 8 144522387 144522389 + In_Frame_Del DEL GAG GAG - rs2272753 byFrequency TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr8:144522387_144522389delGAG ENST00000262577.5 - 11 2668_2670 c.2637_2639delCTC c.(2635-2640)tca>tc p.SS879del NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 879 Poly-Ser. mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) Gggaggggatgaggaggaggagg 0.655 8 70 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 10 322 --- --- --- --- DDX50 79009 broad.mit.edu 37 10 70666692 70666693 + Frame_Shift_Ins INS - - A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr10:70666692_70666693insA ENST00000373585.3 + 2 420_421 c.313_314insA c.(313-315)aaafs p.K105fs NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 105 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 AGATGAATATGAAAAAAAATCA 0.307 8 524 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 14 451 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14063263 14063263 + RNA DEL A A - rs113227652 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr11:14063263delA ENST00000310358.7 + 0 1017 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GATTGCAGGGAAAAAAAAAAA 0.423 8 95 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14101781 14101782 + RNA INS - - T rs72219431 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr11:14101781_14101782insT ENST00000310358.7 + 0 1211 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) TAttttttttcttttttttttt 0.441 4 8 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 9 278 --- --- --- --- PAK1 5058 broad.mit.edu 37 11 77069990 77069992 + In_Frame_Del DEL CAT CAT - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr11:77069990_77069992delCAT ENST00000356341.3 - 6 1079_1081 c.548_550delATG c.(547-552)gct>g p.DA183del PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000525542.1_5'UTR NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 183 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) GGTGGGGTAGcatcatcatcatc 0.478 15 498 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 8 994 --- --- --- --- ACSM4 341392 broad.mit.edu 37 12 7456935 7456935 + Frame_Shift_Del DEL T T - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr12:7456935delT ENST00000399422.4 + 1 56 c.8delT c.(7-9)atfs p.I3fs NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 3 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 ACCATGAAGATTTTTTTCCGC 0.473 8 786 --- --- --- --- RP11-478B9.1 0 broad.mit.edu 37 12 45459098 45459101 + RNA DEL CAAA CAAA - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr12:45459098_45459101delCAAA ENST00000548424.1 + 0 448 ACAAGCTGCTCAAACAGATTCCGC 0.485 20 171 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 926 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GGTTCTCCTTTCTCTCTCTCTC 0.446 11 758 --- --- --- --- HSPH1 10808 broad.mit.edu 37 13 31715381 31715382 + Frame_Shift_Ins INS - - T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr13:31715381_31715382insT ENST00000320027.5 - 13 2075_2076 c.1731_1732insA c.(1729-1734)aattgafs p.N*577fs HSPH1_ENST00000429785.2_Frame_Shift_Ins_p.N*396fs|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N*536fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N*533fs|HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N*579fs NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 577 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) GGCTGGTCAACTTTTTTTTCAT 0.376 8 475 --- --- --- --- PRKD1 5587 broad.mit.edu 37 14 30396622 30396623 + In_Frame_Ins INS - - CCCGGA rs139860047 by1000genomes TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr14:30396622_30396623insCCCGGA ENST00000331968.5 - 1 325_326 c.96_97insTCCGGG c.(94-99)ggccgg>ggTCCGGGccgg p.35_36insGP PRKD1_ENST00000415220.2_In_Frame_Ins_p.35_36insGP NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 35 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GCGGGCCCGGGCCCGGACCCTG 0.762 6 10 --- --- --- --- CHEK2P2 0 broad.mit.edu 37 15 20490740 20490740 + RNA DEL T T - rs143465906 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr15:20490740delT ENST00000555186.1 + 0 568 NR_038836.1 TTACAACCTGttttttttttt 0.423 11 142 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 10 746 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64972995 64972997 + In_Frame_Del DEL CAC CAC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr15:64972995_64972997delCAC ENST00000326648.3 + 7 4224_4226 c.4096_4098delCAC c.(4096-4098)del p.H1371del NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1371 Poly-His. nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GATGTCCACACACCACCACCACC 0.591 7 575 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 11 1417 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 9 341 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 7 407 --- --- --- --- ADAMTS18 170692 broad.mit.edu 37 16 77356311 77356311 + Frame_Shift_Del DEL A A - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr16:77356311delA ENST00000282849.5 - 14 2503 c.2085delT c.(2083-2085)ttfs p.F695fs NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 695 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A696fs*18(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CGGACATTGCAAAAAAAAATT 0.403 10 461 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 7 139 --- --- --- --- TUBB8P7 0 broad.mit.edu 37 16 90161966 90161966 + RNA DEL T T - rs56265310 TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr16:90161966delT ENST00000564451.1 + 0 1319 TUBB8P7_ENST00000567960.1_RNA CTACCATGAGTTGGGGTCACC 0.542 9 104 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7801857 7801859 + In_Frame_Del DEL AAG AAG - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr17:7801857_7801859delAAG ENST00000380358.4 + 13 2273_2275 c.2272_2274delAAG c.(2272-2274)del p.K762del CHD3_ENST00000358181.4_In_Frame_Del_p.K703del|CHD3_ENST00000330494.7_In_Frame_Del_p.K703del NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 703 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CCGCAAGTATAAGAAGAAGAAGA 0.488 7 215 --- --- --- --- NDEL1 81565 broad.mit.edu 37 17 8370271 8370273 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr17:8370271_8370273delCTC ENST00000334527.7 + 9 1165_1167 c.968_970delCTC c.(967-972)gct>g p.AP323del NDEL1_ENST00000402554.3_3'UTR|NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron NM_030808.4 NP_110435.1 Q9GZM8 NDEL1_HUMAN nudE neurodevelopment protein 1-like 1 323 Interaction with CENPF.|Interaction with NEFL (By similarity). chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|microtubule|spindle large_intestine(6)|lung(4)|skin(3) 13 TTTGACCCCGCTCCTCCTCCTCC 0.576 7 505 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 10 1012 --- --- --- --- KRTAP9-1 0 broad.mit.edu 37 17 39346425 39346427 + In_Frame_Del DEL GTG GTG - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr17:39346425_39346427delGTG ENST00000398470.1 + 1 287_289 c.287_289delGTG c.(286-291)tgc>t p.CG96del KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice|KRTAP9-1_ENST00000377723.3_Intron NM_001190460.1 NP_001177389.1 A8MXZ3 KRA91_HUMAN keratin associated protein 9-1 96 30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI]. keratin filament breast(1)|lung(3) 4 TCCAGCTGCTGTGGCCAAACCAG 0.606 7 88 --- --- --- --- AMZ2P1 0 broad.mit.edu 37 17 62968575 62968575 + RNA DEL T T - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr17:62968575delT ENST00000430983.1 - 0 1593 NR_026903.1 TTGGTTGGAATTTTTTTCCCT 0.333 7 247 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 8 256 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 9 778 --- --- --- --- ZSWIM4 65249 broad.mit.edu 37 19 13941586 13941587 + Frame_Shift_Ins INS - - C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:13941586_13941587insC ENST00000254323.2 + 13 2881_2882 c.2692_2693insC c.(2692-2694)acgfs p.T898fs ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.T732fs NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 898 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CCCCTTAGGGGCACGCCGGGCC 0.693 11 319 --- --- --- --- ZNF43 7594 broad.mit.edu 37 19 22002025 22002026 + Splice_Site INS - - A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:22002025_22002026insA ENST00000594012.1 - 5 500 c.e5-2 ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000354959.4_Splice_Site|ZNF43_ENST00000595461.1_Splice_Site NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.?(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CAATGGTCCCTAAAAAAAACAA 0.386 7 497 --- --- --- --- CEACAM20 125931 broad.mit.edu 37 19 45017226 45017231 + RNA DEL GTTACC GTTACC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:45017226_45017231delGTTACC ENST00000454753.1 - 0 1705_1706 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) GTATCCCTGTGTTACCGTCTGGCATT 0.587 OREG0025538 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 82 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 13 562 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299147 46299149 + In_Frame_Del DEL CCT CCT - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr19:46299147_46299149delCCT ENST00000221538.3 - 6 2274_2276 c.2132_2134delAGG c.(2131-2136)ggc>g p.EG711del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 711 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 GTctcctcgccctcctcctcctc 0.557 14 526 --- --- --- --- DSTN 11034 broad.mit.edu 37 20 17581488 17581489 + Frame_Shift_Ins INS - - T TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr20:17581488_17581489insT ENST00000246069.6 + 2 455_456 c.109_110insT c.(109-111)tttfs p.F37fs DSTN_ENST00000543261.1_Frame_Shift_Ins_p.F20fs|DSTN_ENST00000474024.1_3'UTR NM_006870.3 NP_006861.1 P60981 DEST_HUMAN destrin (actin depolymerizing factor) 37 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding endometrium(1)|large_intestine(5)|lung(8)|skin(1) 15 GAAGGCTGTCATTTTTTGTCTC 0.386 15 379 --- --- --- --- PMEPA1 56937 broad.mit.edu 37 20 56227291 56227309 + Frame_Shift_Del DEL GCCCCTCCATGCGCCCGCC GCCCCTCCATGCGCCCGCC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr20:56227291_56227309delGCCCCTCCATGCGCCCGCC ENST00000341744.3 - 4 983_1001 c.664_682delGGCGGGCGCATGGAGGGGC c.(664-684)cgfs p.GGRMEGP222fs PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.GGRMEGP172fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.GGRMEGP187fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.GGRMEGP172fs|PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.GGRMEGP172fs NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 222 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GTGGGCGGCGGCCCCTCCATGCGCCCGCCGCTGCCGTAG 0.694 12 87 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr20:58467047delT ENST00000357552.3 - 24 2587 c.2362delA c.(2362-2364)tgfs p.M788fs SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 788 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding p.M788fs*1(1) NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AAGCTCACCATTTTTTTTTGT 0.323 8 253 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11038813 11038814 + RNA INS - - T rs144107885 by1000genomes TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr21:11038813_11038814insT ENST00000470054.1 - 0 1389_1390 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGACTGAGATGTAAGTTGTTGG 0.446 10 1597 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 11 433 --- --- --- --- GART 2618 broad.mit.edu 37 21 34882122 34882122 + Frame_Shift_Del DEL T T - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr21:34882122delT ENST00000381831.3 - 18 2683 c.2420delA c.(2419-2421)agfs p.K807fs GART_ENST00000381815.4_Frame_Shift_Del_p.K807fs|GART_ENST00000381839.3_Frame_Shift_Del_p.K807fs|GART_ENST00000543717.1_Frame_Shift_Del_p.K359fs NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 807 AIRS. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding p.K807fs*7(2) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) CACTCTGGCCTTTTTTTTTTC 0.448 10 238 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 501 --- --- --- --- PRRG1 5638 broad.mit.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chrX:37312611delC ENST00000542554.1 + 5 666 c.394delC c.(394-396)ccfs p.P135fs PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 135 Poly-Pro. extracellular region|integral to plasma membrane calcium ion binding p.P135fs*3(1)|p.P134fs*19(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 TATCACCCCACCCCCCCCACC 0.488 9 389 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 7 95 --- --- --- --- XIST 0 broad.mit.edu 37 X 73071845 73071846 + RNA INS - - A TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chrX:73071845_73071846insA ENST00000429829.1 - 0 742_743 NR_001564.2 GATGGGCGATGAAAAAAAAAAA 0.411 7 63 --- --- --- --- IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chrX:107977802_107977803insC ENST00000372129.2 - 1 1848_1849 c.1772_1773insG c.(1771-1773)gaafs p.E591fs NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545 12 781 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-2J-AABA-01A-21D-A40W-08 TCGA-2J-AABA-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61e9c5f2-e782-404f-92f1-ecc78d28b285 702e85b0-5c6e-4945-a20a-37568587f243 g.chrX:149639633_149639635delGCA ENST00000370401.2 + 4 2098_2100 c.1788_1790delGCA c.(1786-1791)ctg>ct p.LQ596del MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 596 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CCTTgcagctgcagcagcagcag 0.611 7 251 --- --- --- ---