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 PTPRU 10076 broad.mit.edu 37 1 29609426 29609426 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:29609426C>G ENST00000323874.8 + 12 2217 c.2107C>G c.(2107-2109)Ctc>Gtc p.L703V PTPRU_ENST00000356870.3_Missense_Mutation_p.L703V|PTPRU_ENST00000428026.2_Missense_Mutation_p.L703V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Missense_Mutation_p.L703V|PTPRU_ENST00000460170.2_Missense_Mutation_p.L703V|PTPRU_ENST00000373779.3_Missense_Mutation_p.L703V Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 703 canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GAAGGCCTATCTCATCTACTT 0.617000 12 53 0 0 0.016723 0 0 PRDM8 56978 broad.mit.edu 37 4 81122461 81122461 + Silent SNP A A C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr4:81122461A>C ENST00000339711.4 + 9 1468 c.237A>C c.(235-237)gcA>gcC p.A79A PRDM8_ENST00000415738.2_Silent_p.A79A|PRDM8_ENST00000504452.1_Silent_p.A79A NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 79 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 CCTCAGCAGCAAATGGTTCCT 0.478000 9 18 0 0 0.010729 0 0 METTL21A 151194 broad.mit.edu 37 2 208478045 208478045 + Missense_Mutation SNP T T G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:208478045T>G ENST00000411432.1 - 4 598 c.382A>C c.(382-384)Aat>Cat p.N128H METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000272839.3_Missense_Mutation_p.N146H|METTL21A_ENST00000426075.1_Missense_Mutation_p.N128H|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000406927.2_Missense_Mutation_p.N128H|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000448007.2_Missense_Mutation_p.N128H|METTL21A_ENST00000442521.1_Missense_Mutation_p.N128H NM_001127395.1 NP_001120867.1 Q8WXB1 MT21A_HUMAN methyltransferase like 21A 128 integral to membrane methyltransferase activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1) 10 CTCCCCAAATTTTGTCCCCAA 0.368000 24 33 0 0 0.007291 0 0 CENPC 1060 broad.mit.edu 37 4 68385088 68385088 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr4:68385088G>A ENST00000273853.6 - 6 714 c.464C>T c.(463-465)tCc>tTc p.S155F NM_001812.2 NP_001803.2 centromere protein C TGAGCCAACGGATAAGTAAAA 0.343000 23 83 0 0 0.021523 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187712479 187712479 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:187712479G>A ENST00000295131.2 - 2 248 c.209C>T c.(208-210)cCg>cTg p.P70L NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 70 apoptosis zinc ion binding p.P70Q(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CCCTCCTTTCGGAAATGTGGA 0.348000 25 35 0 0 0.010818 0 0 MYO7B 4648 broad.mit.edu 37 2 128394476 128394476 + Nonsense_Mutation SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:128394476C>A ENST00000389524.4 + 46 6293 c.6240C>A c.(6238-6240)tgC>tgA p.C2080* MYO7B_ENST00000428314.1_Nonsense_Mutation_p.C2079*|MYO7B_ENST00000409816.2_Nonsense_Mutation_p.C2079*|MYO7B_ENST00000409090.1_Nonsense_Mutation_p.C932* Q6PIF6 MYO7B_HUMAN myosin VIIB 2079 FERM 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GCCTGCTGTGCGAGACCTCCC 0.612000 3 40 0.004672 0.00490303 0.004672 1 0 NYAP2 57624 broad.mit.edu 37 2 226447438 226447438 + Silent SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:226447438C>T ENST00000272907.6 + 4 1718 c.1305C>T c.(1303-1305)acC>acT p.T435T NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 435 Pro-rich. GTCACTCCACCTCTCCCTCCC 0.647000 9 12 0 0 0.006214 0 0 SMC4 10051 broad.mit.edu 37 3 160141353 160141353 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr3:160141353C>G ENST00000357388.3 + 14 2611 c.2160C>G c.(2158-2160)aaC>aaG p.N720K SMC4_ENST00000344722.5_Missense_Mutation_p.N720K|SMC4_ENST00000462787.1_Missense_Mutation_p.N720K|SMC4_ENST00000469762.1_Missense_Mutation_p.N695K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.N720K NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 720 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TAGCTGACAACTTGGATCAAG 0.343000 53 389 0 0 0.014410 0 0 GRIN2A 2903 broad.mit.edu 37 16 10274118 10274118 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr16:10274118G>C ENST00000396573.2 - 3 460 c.151C>G c.(151-153)Ctt>Gtt p.L51V GRIN2A_ENST00000562109.1_Missense_Mutation_p.L51V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L51V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L51V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L51V NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 51 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGTGTTCGAAGTTCGCGCTCT 0.682000 16 93 0 0 0.007413 0 0 ZNF639 51193 broad.mit.edu 37 3 179052100 179052100 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr3:179052100C>G ENST00000326361.3 + 7 1793 c.1348C>G c.(1348-1350)Cta>Gta p.L450V ZNF639_ENST00000496856.1_Missense_Mutation_p.L450V|ZNF639_ENST00000484866.1_Missense_Mutation_p.L450V NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 450 Interaction with CTNNA2. initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TAAAATTCATCTAGATTTCAA 0.323000 32 162 0 0 0.009535 0 0 YEATS2 55689 broad.mit.edu 37 3 183493712 183493712 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr3:183493712C>G ENST00000305135.5 + 18 2573 c.2378C>G c.(2377-2379)tCt>tGt p.S793C NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 793 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GATCTCCAGTCTGGCTCAGCT 0.522000 20 146 0 0 0.008871 0 0 OR8K5 219453 broad.mit.edu 37 11 55927085 55927085 + Missense_Mutation SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr11:55927085C>A ENST00000313447.1 - 1 708 c.709G>T c.(709-711)Gct>Tct p.A237S NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A237T(1) large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) GTGGAGAAAGCCTTTTTCCTG 0.408000 13 33 1.5842e-08 1.76949e-08 0.016723 1 0 FAT1 2195 broad.mit.edu 37 4 187535482 187535482 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr4:187535482G>A ENST00000441802.2 - 12 9301 c.9092C>T c.(9091-9093)aCt>aTt p.T3031I NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3031 Cadherin 28. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTCAGGAATAGTGTCTGAATA 0.378000 HNSCC(5;0.00058) 19 56 0 0 0.007413 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146650721 146650721 + RNA SNP G G T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:146650721G>T ENST00000607149.1 + 0 350 AGGATTTCTCGCGTGATGGGA 0.468000 212 89 6.85672e-94 8.23669e-94 0.014410 1 0 SLITRK5 26050 broad.mit.edu 37 13 88330088 88330088 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr13:88330088G>A ENST00000325089.6 + 2 2664 c.2445G>A c.(2443-2445)ctG>ctA p.L815L SLITRK5_ENST00000400028.3_Silent_p.L574L NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 815 integral to membrane 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) agctgcagctgcagcCCGGGG 0.711000 3 6 0 0 0.001168 0 0 CUBN 8029 broad.mit.edu 37 10 17113568 17113568 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr10:17113568G>A ENST00000377833.4 - 19 2547 c.2482C>T c.(2482-2484)Cgc>Tgc p.R828C NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 828 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAAGGCGAGCGAATGACCCCT 0.413000 17 66 0 0 0.007413 0 0 ERC1 23085 broad.mit.edu 37 12 1250924 1250924 + Nonsense_Mutation SNP G G T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr12:1250924G>T ENST00000397203.2 + 8 2114 c.1708G>T c.(1708-1710)Gag>Tag p.E570* ERC1_ENST00000360905.4_Nonsense_Mutation_p.E570*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E570*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.E542*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E570*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E570*|ERC1_ENST00000536573.2_3'UTR Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 570 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) GGATGTGAAGGAGCGGAAGGT 0.423000 16 275 1.15088e-07 1.27062e-07 0.004007 1 0 C9orf50 375759 broad.mit.edu 37 9 132375462 132375462 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr9:132375462G>A ENST00000372478.4 - 6 1313 c.1112C>T c.(1111-1113)tCa>tTa p.S371L NTMT1_ENST00000372486.1_Intron NM_199350.3 NP_955382.3 Q5SZB4 CI050_HUMAN chromosome 9 open reading frame 50 371 central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) CTTCTTCCATGAACAGAAGGG 0.607000 11 33 0 0 0.008291 0 0 CARD11 84433 broad.mit.edu 37 7 2987368 2987368 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:2987368C>T ENST00000396946.4 - 3 464 c.61G>A c.(61-63)Gcc>Acc p.A21T NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 21 CARD. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCCCACAAGGCGTCCTCTTCA 0.507000 Mis DLBCL 27 99 0 0 0.012213 0 0 KIAA1109 84162 broad.mit.edu 37 4 123270379 123270379 + Silent SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr4:123270379C>T ENST00000264501.4 + 78 13720 c.13347C>T c.(13345-13347)atC>atT p.I4449I KIAA1109_ENST00000388738.3_Silent_p.I4449I Q2LD37 K1109_HUMAN KIAA1109 4449 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ATCGAGAGATCAGCATGTCTG 0.403000 12 37 0 0 0.020292 0 0 OR8J3 81168 broad.mit.edu 37 11 55905136 55905136 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr11:55905136C>T ENST00000301529.1 - 1 58 c.59G>A c.(58-60)tGt>tAt p.C20Y NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) GAGCTCTGGACAGCTAGAGAC 0.478000 33 93 0 0 0.005524 0 0 RPGR 6103 broad.mit.edu 37 X 38145068 38145068 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chrX:38145068C>G ENST00000378505.2 - 15 3360 c.3184G>C c.(3184-3186)Gag>Cag p.E1062Q RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 845 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 tcttcctcctcctcttctctg 0.488000 39 31 0 0 0.006230 0 0 RCC1 1104 broad.mit.edu 37 1 28864461 28864461 + Missense_Mutation SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:28864461C>A ENST00000373833.6 + 13 1493 c.1208C>A c.(1207-1209)tCt>tAt p.S403Y RCC1_ENST00000398958.2_Missense_Mutation_p.S403Y|RCC1_ENST00000373831.3_Missense_Mutation_p.S434Y|RCC1_ENST00000373832.1_Missense_Mutation_p.S403Y P18754 RCC1_HUMAN regulator of chromosome condensation 1 403 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) GTGGTCTTATCTGTGTCCAGC 0.577000 5 20 0.000602214 0.000642586 0.014758 1 0 CCDC87 55231 broad.mit.edu 37 11 66359037 66359037 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr11:66359037C>G ENST00000333861.3 - 1 1517 c.1450G>C c.(1450-1452)Gat>Cat p.D484H NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 484 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 ACAAAGTTATCAATATCCATT 0.463000 29 84 0 0 0.012213 0 0 PARS2 25973 broad.mit.edu 37 1 55224719 55224719 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:55224719C>T ENST00000371279.3 - 2 198 c.116G>A c.(115-117)cGc>cAc p.R39H NM_152268.3 NP_689481.2 Q7L3T8 SYPM_HUMAN prolyl-tRNA synthetase 2, mitochondrial (putative) 39 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1) 15 L-Proline(DB00172) CAGCAGCAGGCGCCGCCCTCT 0.607000 4 20 0 0 0.009096 0 0 KCTD16 57528 broad.mit.edu 37 5 143586683 143586683 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr5:143586683C>G ENST00000507359.2 + 2 1497 c.406C>G c.(406-408)Cac>Gac p.H136D KCTD16_ENST00000512467.1_Missense_Mutation_p.H136D NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 136 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TGAATTCTGCCACAGTGACTT 0.522000 28 43 0 0 0.008361 0 0 JAK3 3718 broad.mit.edu 37 19 17942159 17942159 + Silent SNP G G T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr19:17942159G>T ENST00000458235.1 - 21 2955 c.2856C>A c.(2854-2856)gcC>gcA p.A952A JAK3_ENST00000534444.1_Silent_p.A952A|JAK3_ENST00000527670.1_Silent_p.A952A NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 952 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GGATGTTTCGGGCGGCCAGGT 0.652000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 26 107 5.77227e-19 6.72258e-19 0.008361 1 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 3 5 0 0 0.004672 0 0 ZFAND3 60685 broad.mit.edu 37 6 38120124 38120124 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr6:38120124G>C ENST00000287218.4 + 6 1090 c.643G>C c.(643-645)Gtg>Ctg p.V215L ZFAND3_ENST00000373391.2_Missense_Mutation_p.V193L|ZFAND3_ENST00000463847.1_3'UTR NM_021943.2 NP_068762.1 Q9H8U3 ZFAN3_HUMAN zinc finger, AN1-type domain 3 215 DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1) 9 GGACCGGAAAGTGGGGCGCTC 0.577000 69 67 0 0 0.014410 0 0 UGT1A7 54577 broad.mit.edu 37 2 234591112 234591112 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:234591112C>G ENST00000373426.3 + 1 529 c.529C>G c.(529-531)Ctt>Gtt p.L177V UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_019077.2 NP_061950.2 NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1) 33 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) TTGCCACTATCTTGAAGAAGG 0.483000 56 100 0 0 0.014410 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 59 0 0 0.014758 0 0 LRRN3 54674 broad.mit.edu 37 7 110763135 110763135 + Missense_Mutation SNP A A T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:110763135A>T ENST00000451085.1 + 4 1353 c.307A>T c.(307-309)Aat>Tat p.N103Y LRRN3_ENST00000308478.5_Missense_Mutation_p.N103Y|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.N103Y|IMMP2L_ENST00000331762.3_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 103 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ATCTCAAAACAATTTATCTTC 0.353000 5 35 0 0 0.001168 0 0 TRAJ23 28732 broad.mit.edu 37 14 22989438 22989438 + RNA SNP G G T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr14:22989438G>T ENST00000390514.1 + 0 45 ACAGGGAACGGAGTTATCTGT 0.393000 22 49 1.55469e-16 1.78883e-16 0.018920 1 0 ZKSCAN2 342357 broad.mit.edu 37 16 25268325 25268325 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr16:25268325C>G ENST00000328086.7 - 1 927 c.124G>C c.(124-126)Gag>Cag p.E42Q NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 42 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) CGGAAGGTCTCAGAGCTATCC 0.522000 OREG0023690 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 40 0 0 0.020292 0 0 NRP1 8829 broad.mit.edu 37 10 33619748 33619748 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr10:33619748G>A ENST00000265371.4 - 3 661 c.136C>T c.(136-138)Cat>Tat p.H46Y NRP1_ENST00000374816.3_Missense_Mutation_p.H46Y|NRP1_ENST00000374821.5_Missense_Mutation_p.H46Y|NRP1_ENST00000374822.4_Missense_Mutation_p.H46Y|NRP1_ENST00000374823.5_Missense_Mutation_p.H46Y|NRP1_ENST00000374867.2_Missense_Mutation_p.H46Y|NRP1_ENST00000395995.1_Missense_Mutation_p.H46Y O14786 NRP1_HUMAN neuropilin 1 46 CUB 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) TGATAAGAATGAGGATAACCA 0.418000 24 30 0 0 0.018920 0 0 PAK2 5062 broad.mit.edu 37 3 196530019 196530019 + Silent SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr3:196530019G>C ENST00000327134.3 + 4 742 c.420G>C c.(418-420)ctG>ctC p.L140L NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 140 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) AGAAATATCTGAGCTTTACTC 0.418000 16 113 0 0 0.006122 0 0 GRIK2 2898 broad.mit.edu 37 6 102503442 102503442 + Missense_Mutation SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr6:102503442C>A ENST00000369138.1 + 15 3039 c.2549C>A c.(2548-2550)gCt>gAt p.A850D GRIK2_ENST00000421544.1_Missense_Mutation_p.A850D|GRIK2_ENST00000413795.1_Missense_Mutation_p.A850D|GRIK2_ENST00000369137.3_Missense_Mutation_p.A774D|GRIK2_ENST00000318991.6_Missense_Mutation_p.A850D|GRIK2_ENST00000369134.4_Missense_Mutation_p.A801D NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 850 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AAAAAAAACGCTCAATTGGAA 0.328000 20 100 9.95505e-16 1.13857e-15 0.014323 1 0 COL5A1 1289 broad.mit.edu 37 9 137715309 137715309 + Silent SNP C C A rs61735501 byFrequency TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr9:137715309C>A ENST00000371817.3 + 61 5106 c.4692C>A c.(4690-4692)ggC>ggA p.G1564G NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1564 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GACCCCCAGGCCCCCCGGTAA 0.597000 26 50 1.74197e-06 1.90124e-06 0.006320 1 0 PROCA1 147011 broad.mit.edu 37 17 27038611 27038611 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr17:27038611G>C ENST00000301039.2 - 1 261 c.68C>G c.(67-69)tCg>tGg p.S23W PROCA1_ENST00000581289.1_Missense_Mutation_p.S23W NM_152465.1 NP_689678.1 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 23 lipid catabolic process calcium ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) CTCATCCCACGAGCGGGCCTT 0.672000 6 209 0 0 0.004482 0 0 ZNF12 7559 broad.mit.edu 37 7 6731676 6731676 + Nonsense_Mutation SNP A A T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:6731676A>T ENST00000405858.1 - 5 1438 c.897T>A c.(895-897)tgT>tgA p.C299* ZNF12_ENST00000404360.1_Nonsense_Mutation_p.C225*|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.C261*|AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 299 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) CACACTGATTACATTCGTAAG 0.423000 70 51 0 0 0.014410 0 0 THG1L 54974 broad.mit.edu 37 5 157166327 157166327 + Splice_Site SNP A A T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr5:157166327A>T ENST00000231198.7 + 6 979 c.e6-1 NM_017872.3 NP_060342.2 Q9NWX6 THG1_HUMAN tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) protein homotetramerization|tRNA modification mitochondrion GTP binding|metal ion binding|tRNA guanylyltransferase activity NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1) 13 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTTTACCTGTAGGTGGATGAA 0.428000 17 26 0 0 0.004990 0 0 IPO5 3843 broad.mit.edu 37 13 98668033 98668033 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr13:98668033G>A ENST00000261574.5 + 24 2725 c.2545G>A c.(2545-2547)Gag>Aag p.E849K IPO5_ENST00000490680.1_Missense_Mutation_p.E831K|IPO5_ENST00000539640.1_Missense_Mutation_p.E706K NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 831 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 ACTACAAGATGAGGTAAGTTA 0.358000 11 27 0 0 0.016723 0 0 HERC2 8924 broad.mit.edu 37 15 28358347 28358347 + Missense_Mutation SNP A A G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr15:28358347A>G ENST00000261609.7 - 92 14210 c.14102T>C c.(14101-14103)aTc>aCc p.I4701T NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4701 HECT. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GAACCACTGGATCAGCGATGC 0.607000 11 48 0 0 0.013537 0 0 ZNF624 57547 broad.mit.edu 37 17 16527489 16527489 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr17:16527489C>G ENST00000311331.7 - 6 802 c.711G>C c.(709-711)ttG>ttC p.L237F NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TATCTGTAATCAAATTTAAAT 0.383000 22 66 0 0 0.010504 0 0 GSTA4 2941 broad.mit.edu 37 6 52847396 52847396 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr6:52847396G>A ENST00000541324.1 - 4 508 c.243C>T c.(241-243)atC>atT p.I81I GSTA4_ENST00000370960.1_Silent_p.I81I|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370959.1_Silent_p.I174I O15217 GSTA4_HUMAN glutathione S-transferase alpha 4 174 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity|protein homodimerization activity endometrium(1)|lung(3)|skin(2)|urinary_tract(1) 7 Lung NSC(77;0.103) Glutathione(DB00143) ATGCAGACAGGATATTAGGAA 0.408000 19 39 0 0 0.012319 0 0 ZNF383 163087 broad.mit.edu 37 19 37733511 37733511 + Missense_Mutation SNP A A G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr19:37733511A>G ENST00000589413.1 + 8 956 c.373A>G c.(373-375)Agc>Ggc p.S125G ZNF383_ENST00000352998.3_Missense_Mutation_p.S125G|ZNF383_ENST00000590503.1_Missense_Mutation_p.S125G Q8NA42 ZN383_HUMAN zinc finger protein 383 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGAATATAGAAGCCACCTTGC 0.383000 46 87 0 0 0.014410 0 0 WIPF3 644150 broad.mit.edu 37 7 29923502 29923502 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:29923502C>T ENST00000409290.1 + 4 392 c.392C>T c.(391-393)cCc>cTc p.P131L WIPF3_ENST00000409123.1_Missense_Mutation_p.P131L|WIPF3_ENST00000242140.5_Missense_Mutation_p.P131L NM_001080529.2 NP_001073998.2 B8ZZV2 B8ZZV2_HUMAN WAS/WASL interacting protein family, member 3 131 breast(2)|large_intestine(3)|lung(6)|ovary(1) 12 TCCCGCGCGCCCTCTCCCAGG 0.627000 6 18 0 0 0.001168 0 0 INPP5B 3633 broad.mit.edu 37 1 38357097 38357097 + Missense_Mutation SNP T T A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:38357097T>A ENST00000373023.2 - 8 895 c.802A>T c.(802-804)Aat>Tat p.N268Y INPP5B_ENST00000373026.1_Missense_Mutation_p.N268Y|INPP5B_ENST00000373024.3_Missense_Mutation_p.N188Y|INPP5B_ENST00000373027.1_Missense_Mutation_p.N24Y NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 268 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CCCTTCCCATTTGGTCTCAAA 0.448000 44 87 0 0 0.014410 0 0 ROBO2 6092 broad.mit.edu 37 3 77600053 77600053 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr3:77600053C>G ENST00000461745.1 + 8 2044 c.1144C>G c.(1144-1146)Caa>Gaa p.Q382E ROBO2_ENST00000487694.3_Missense_Mutation_p.Q398E|ROBO2_ENST00000332191.8_Missense_Mutation_p.Q382E NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 382 Ig-like C2-type 4. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CACCAACATTCAACGTTCCGA 0.488000 16 34 0 0 0.004007 0 0 TBX15 6913 broad.mit.edu 37 1 119474283 119474283 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:119474283G>A ENST00000369429.3 - 2 387 c.378C>T c.(376-378)ttC>ttT p.F126F TBX15_ENST00000207157.3_Silent_p.F20F Q96SF7 TBX15_HUMAN T-box 15 126 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) CAATATCATGGAACCGCTTCC 0.507000 19 32 0 0 0.010504 0 0 CHRNG 1146 broad.mit.edu 37 2 233410382 233410382 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:233410382C>G ENST00000389494.3 + 12 1531 c.1510C>G c.(1510-1512)Cca>Gca p.P504A CHRNG_ENST00000389492.3_Missense_Mutation_p.P452A NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 504 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) GCCGGCCCTGCCATTCCCTGG 0.617000 17 43 0 0 0.004990 0 0 OR5M9 390162 broad.mit.edu 37 11 56230773 56230773 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr11:56230773G>A ENST00000279791.1 - 1 104 c.105C>T c.(103-105)atC>atT p.I35I NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) CCAACAGAGTGATCATGTAAA 0.443000 15 27 0 0 0.020292 0 0 DDX11 1663 broad.mit.edu 37 12 31253973 31253973 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr12:31253973C>T ENST00000407793.2 + 20 2212 c.1961C>T c.(1960-1962)cCt>cTt p.P654L DDX11_ENST00000542838.1_Missense_Mutation_p.P654L|DDX11_ENST00000350437.4_Missense_Mutation_p.P654L|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.P628L|DDX11_ENST00000545668.1_Missense_Mutation_p.P654L NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 654 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CACGTGATCCCTCCAGACAAC 0.582000 Multiple Myeloma(12;0.14) 15 114 0 0 0.021022 0 0 DENND6A 201627 broad.mit.edu 37 3 57658127 57658127 + Splice_Site SNP T T C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr3:57658127T>C ENST00000311128.5 - 2 346 c.276_splice c.e2+1 p.E92_splice NM_152678.2 NP_689891.1 DENN/MADD domain containing 6A TTTTACTTACTTCTCTGTCAG 0.254000 39 13 0 0 0.010771 0 0 DHX36 170506 broad.mit.edu 37 3 154022638 154022638 + Missense_Mutation SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr3:154022638C>A ENST00000496811.1 - 8 1172 c.1092G>T c.(1090-1092)ttG>ttT p.L364F DHX36_ENST00000308361.6_Missense_Mutation_p.L364F|DHX36_ENST00000329463.5_Missense_Mutation_p.L364F|DHX36_ENST00000544526.1_Missense_Mutation_p.L364F NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 364 Helicase ATP-binding. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTGCACTCATCAATATTACTT 0.289000 10 78 0.000978159 0.00103794 0.010729 1 0 KIT 3815 broad.mit.edu 37 4 55594190 55594190 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr4:55594190G>C ENST00000288135.5 + 13 1990 c.1893G>C c.(1891-1893)ttG>ttC p.L631F NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 631 Protein kinase. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTGCCCATTTGACAGAACGGG 0.438000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 5 71 0 0 0.001984 0 0 REEP5 7905 broad.mit.edu 37 5 112238181 112238181 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr5:112238181C>T ENST00000379638.4 - 3 595 c.247G>A c.(247-249)Gat>Aat p.D83N REEP5_ENST00000504247.1_Intron|REEP5_ENST00000545426.1_Missense_Mutation_p.D83N|REEP5_ENST00000513339.1_Missense_Mutation_p.D83N|REEP5_ENST00000474542.2_5'UTR NM_005669.4 NP_005660.4 Q00765 REEP5_HUMAN receptor accessory protein 5 83 integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013) CACTGGGTATCATCTTCTTTG 0.383000 16 48 0 0 0.004007 0 0 HECA 51696 broad.mit.edu 37 6 139495643 139495643 + Silent SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr6:139495643C>T ENST00000367658.2 + 3 1719 c.1434C>T c.(1432-1434)acC>acT p.T478T RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA NM_016217.2 NP_057301.1 Q9UBI9 HDC_HUMAN headcase homolog (Drosophila) 478 respiratory tube development endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) CTATGTACACCTACGACATCC 0.547000 12 131 0 0 0.020292 0 0 AIM1L 55057 broad.mit.edu 37 1 26658052 26658052 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:26658052G>A ENST00000527815.1 - 14 1669 c.1620C>T c.(1618-1620)ggC>ggT p.G540G AIM1L_ENST00000308182.5_Silent_p.G369G NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 369 Ricin B-type lectin. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) TGGGGAACTCGCCCTCAGAGA 0.567000 18 29 0 0 0.004990 0 0 HUWE1 10075 broad.mit.edu 37 X 53631658 53631658 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chrX:53631658G>A ENST00000342160.3 - 25 3091 c.2634C>T c.(2632-2634)ggC>ggT p.G878G HUWE1_ENST00000218328.8_Silent_p.G878G|HUWE1_ENST00000262854.6_Silent_p.G878G Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 878 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CAGCAACATTGCCTGCGCAAG 0.562000 8 17 0 0 0.003080 0 0 UBE4A 9354 broad.mit.edu 37 11 118260439 118260439 + Splice_Site SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr11:118260439G>A ENST00000252108.3 + 17 2718 c.e17-1 UBE4A_ENST00000431736.2_Splice_Site|UBE4A_ENST00000545354.1_Splice_Site NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TTCTTTTCCAGAGATCAAGTC 0.433000 25 84 0 0 0.021523 0 0 BICC1 80114 broad.mit.edu 37 10 60559980 60559980 + Missense_Mutation SNP A A G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr10:60559980A>G ENST00000373886.3 + 13 1756 c.1752A>G c.(1750-1752)atA>atG p.I584M BICC1_ENST00000263103.1_Missense_Mutation_p.I210M NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 584 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 ATGGTGCAATATCCACTTCAT 0.388000 15 7 0 0 0.006122 0 0 MYH6 4624 broad.mit.edu 37 14 23866199 23866199 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr14:23866199C>T ENST00000405093.3 - 18 2211 c.2141G>A c.(2140-2142)cGc>cAc p.R714H MYH6_ENST00000356287.3_Missense_Mutation_p.R714H NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 714 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GTAGAGGATGCGGTTGGGGAA 0.632000 3 38 0 0 0.004672 0 0 CGNL1 84952 broad.mit.edu 37 15 57815716 57815716 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr15:57815716G>A ENST00000281282.5 + 11 2823 c.2745G>A c.(2743-2745)caG>caA p.Q915Q NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 915 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CCCAGGAGCAGAAGCAGTTGT 0.532000 43 20 0 0 0.010771 0 0 ALPPL2 251 broad.mit.edu 37 2 233272041 233272041 + Missense_Mutation SNP A A G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:233272041A>G ENST00000295453.3 + 3 282 c.230A>G c.(229-231)cAg>cGg p.Q77R NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 77 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) CTAAAAGGGCAGAAGAAGGAC 0.587000 17 36 0 0 0.012319 0 0 DDI1 414301 broad.mit.edu 37 11 103908425 103908425 + Missense_Mutation SNP G G A rs142985363 TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr11:103908425G>A ENST00000302259.3 + 1 1118 c.875G>A c.(874-876)gGa>gAa p.G292E PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 292 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GTTGCTAAAGGAGTGGGCACA 0.512000 14 25 0 0 0.004007 0 0 PPP2R5E 5529 broad.mit.edu 37 14 63860550 63860550 + Silent SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr14:63860550G>C ENST00000337537.3 - 8 1439 c.837C>G c.(835-837)ctC>ctG p.L279L PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Silent_p.L203L|PPP2R5E_ENST00000555899.1_Silent_p.L279L NM_006246.2 NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 279 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) GTGCATGGAAGAGTGATAAGC 0.348000 6 10 0 0 0.001168 0 0 ANKS1A 23294 broad.mit.edu 37 6 34949518 34949518 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr6:34949518G>C ENST00000360359.3 + 4 625 c.487G>C c.(487-489)Gag>Cag p.E163Q ANKS1A_ENST00000535627.1_Missense_Mutation_p.E163Q NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 163 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TGGCCACACAGAGGTGGTGAA 0.542000 21 41 0 0 0.016522 0 0 CRTAM 56253 broad.mit.edu 37 11 122724650 122724650 + Splice_Site SNP G G T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr11:122724650G>T ENST00000227348.4 + 4 393 c.e4-1 NM_019604.2 NP_062550.2 O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TTTTGTTCTAGCAACTCCTTT 0.398000 10 35 3.07112e-06 3.33286e-06 0.010729 1 0 IKZF1 10320 broad.mit.edu 37 7 50450284 50450284 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:50450284G>A ENST00000331340.3 + 5 623 c.468G>A c.(466-468)caG>caA p.Q156Q IKZF1_ENST00000359197.5_Silent_p.Q156Q|IKZF1_ENST00000343574.5_Silent_p.Q69Q|IKZF1_ENST00000439701.1_Silent_p.Q156Q|IKZF1_ENST00000357364.4_Silent_p.Q156Q|IKZF1_ENST00000438033.1_Silent_p.Q69Q|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000440768.2_Silent_p.Q156Q NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 156 Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CATTCACCCAGAAGGGCAACC 0.612000 """D,T""" BCL6 """ALL, DLBCL""" 7 21 0 0 0.001984 0 0 GPR32 2854 broad.mit.edu 37 19 51273921 51273921 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr19:51273921G>A ENST00000270590.4 + 1 201 c.64G>A c.(64-66)Gat>Aat p.D22N NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 22 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCTGACACGTGATCGCTCTTG 0.527000 11 15 0 0 0.008291 0 0 SETBP1 26040 broad.mit.edu 37 18 42530340 42530340 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr18:42530340G>A ENST00000282030.5 + 4 1331 c.1035G>A c.(1033-1035)caG>caA p.Q345Q NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 345 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGATAAGTCAGACCATACCAA 0.483000 Schinzel-Giedion syndrome 13 35 0 0 0.020292 0 0 SAMD4B 55095 broad.mit.edu 37 19 39860463 39860463 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr19:39860463G>A ENST00000314471.6 + 6 1400 c.365G>A c.(364-366)aGt>aAt p.S122N SAMD4B_ENST00000598913.1_Missense_Mutation_p.S122N|SAMD4B_ENST00000596368.1_Missense_Mutation_p.S122N NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 122 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) ATCGAGGAGAGTCGCCAGCTG 0.587000 9 22 0 0 0.004482 0 0 PRDX4 10549 broad.mit.edu 37 X 23700512 23700512 + Splice_Site SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chrX:23700512G>A ENST00000379341.4 + 5 724 c.e5-1 NM_006406.1 NP_006397.1 Q13162 PRDX4_HUMAN peroxiredoxin 4 cell redox homeostasis|I-kappaB phosphorylation thioredoxin peroxidase activity lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 CTGTTTTACAGAGGTCTCTTC 0.368000 16 25 0 0 0.004990 0 0 OVGP1 5016 broad.mit.edu 37 1 111957388 111957388 + Missense_Mutation SNP T T C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:111957388T>C ENST00000369732.3 - 11 1790 c.1735A>G c.(1735-1737)Aga>Gga p.R579G NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 579 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) GATATGTTTCTGGAGGGGACA 0.522000 34 61 0 0 0.005524 0 0 NCAPD2 9918 broad.mit.edu 37 12 6639016 6639016 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr12:6639016G>C ENST00000315579.5 + 29 4528 c.3729G>C c.(3727-3729)atG>atC p.M1243I NCAPD2_ENST00000545962.1_Missense_Mutation_p.M1198I NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1243 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 TCCGTAAGATGCTTGACAATT 0.532000 392 84 0 0 0.014410 0 0 TPO 7173 broad.mit.edu 37 2 1460007 1460007 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:1460007G>C ENST00000345913.4 + 7 863 c.772G>C c.(772-774)Gac>Cac p.D258H TPO_ENST00000382198.1_Missense_Mutation_p.D258H|TPO_ENST00000382201.3_Missense_Mutation_p.D258H|TPO_ENST00000346956.3_Missense_Mutation_p.D258H|TPO_ENST00000337415.3_Missense_Mutation_p.D258H|TPO_ENST00000329066.4_Missense_Mutation_p.D258H|TPO_ENST00000349624.3_Missense_Mutation_p.D258H|TPO_ENST00000497517.2_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 258 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGGAGGGGCTGACTGCCAGAT 0.463000 9 40 0 0 0.010729 0 0 PRDM8 56978 broad.mit.edu 37 4 81123227 81123227 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr4:81123227G>A ENST00000339711.4 + 10 1842 c.611G>A c.(610-612)gGc>gAc p.G204D PRDM8_ENST00000415738.2_Missense_Mutation_p.G204D|PRDM8_ENST00000504452.1_Missense_Mutation_p.G204D NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 204 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 gaccacgggggcggcggcggc 0.652000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 53 0 0 0.021523 0 0 PTPRD 5789 broad.mit.edu 37 9 8525016 8525016 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr9:8525016C>G ENST00000381196.4 - 15 1131 c.588G>C c.(586-588)caG>caC p.Q196H PTPRD_ENST00000537002.1_Missense_Mutation_p.Q193H|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q196H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q187H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q187H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q196H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q196H|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q196H|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q190H|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q193H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q190H NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 196 Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ACTCTTCACTCTGCTCAATCT 0.433000 TSP Lung(15;0.13) 41 115 0 0 0.013114 0 0 SIK2 23235 broad.mit.edu 37 11 111571713 111571713 + Silent SNP A A G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr11:111571713A>G ENST00000304987.3 + 5 755 c.582A>G c.(580-582)gaA>gaG p.E194E NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 194 Protein kinase. intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 AGCAGTATGAAGGACCACAGC 0.468000 8 27 0 0 0.004482 0 0 PSTK 118672 broad.mit.edu 37 10 124742535 124742535 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr10:124742535G>A ENST00000405485.1 + 2 569 c.503G>A c.(502-504)cGg>cAg p.R168Q PSTK_ENST00000368887.3_Missense_Mutation_p.R168Q|PSTK_ENST00000497219.1_3'UTR Q8IV42 PSTK_HUMAN phosphoseryl-tRNA kinase 168 ATP binding|kinase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2) 13 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725) CAGCTGGCTCGGAAATGTAAT 0.313000 58 61 0 0 0.014410 0 0 KCNQ3 3786 broad.mit.edu 37 8 133153390 133153390 + Missense_Mutation SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr8:133153390C>A ENST00000388996.4 - 10 1871 c.1451G>T c.(1450-1452)tGg>tTg p.W484L KCNQ3_ENST00000519445.1_Missense_Mutation_p.W484L|KCNQ3_ENST00000521134.1_Missense_Mutation_p.W364L NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 484 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AGAACTCTGCCAGAAAGCGTA 0.493000 36 81 1.69901e-12 1.93161e-12 0.005524 1 0 MGAM 8972 broad.mit.edu 37 7 141797392 141797392 + Splice_Site SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:141797392G>C ENST00000475668.2 + 66 7746 c.e66-1 MGAM_ENST00000549489.2_Splice_Site O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTTCATTTTAGAATGCCAGAA 0.398000 16 36 0 0 0.008871 0 0 KDM3A 55818 broad.mit.edu 37 2 86716520 86716520 + Silent SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:86716520C>G ENST00000409556.1 + 23 3758 c.3393C>G c.(3391-3393)gtC>gtG p.V1131V KDM3A_ENST00000542128.1_Silent_p.V1079V|KDM3A_ENST00000409064.1_Silent_p.V1131V|KDM3A_ENST00000312912.5_Silent_p.V1131V Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 1131 JmjC. androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 ATGTCATGGTCTATGTGGGAA 0.428000 20 43 0 0 0.008871 0 0 TOP1MT 116447 broad.mit.edu 37 8 144406249 144406249 + Missense_Mutation SNP G G A rs144092447 TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr8:144406249G>A ENST00000523676.1 - 8 991 c.586C>T c.(586-588)Cgc>Tgc p.R196C TOP1MT_ENST00000521193.1_Missense_Mutation_p.R196C|TOP1MT_ENST00000519148.1_Missense_Mutation_p.R196C|TOP1MT_ENST00000329245.4_Missense_Mutation_p.R294C Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 294 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) TACTGGGAGCGGATCTCGTCC 0.527000 4 206 0 0 0.009096 0 0 USH2A 7399 broad.mit.edu 37 1 215940058 215940058 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:215940058G>A ENST00000366943.2 - 56 11398 c.11012C>T c.(11011-11013)cCt>cTt p.P3671L USH2A_ENST00000307340.3_Missense_Mutation_p.P3671L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3671 Fibronectin type-III 21. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACCTAGAAAAGGCTCGCTTGA 0.438000 HNSCC(13;0.011) 168 23 0 0 0.014410 0 0 C1orf94 84970 broad.mit.edu 37 1 34666533 34666533 + Silent SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:34666533C>T ENST00000488417.1 + 3 1290 c.1170C>T c.(1168-1170)gcC>gcT p.A390A C1orf94_ENST00000373374.3_Silent_p.A200A NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 200 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CATGTCCAGCCGAGAAGAACT 0.592000 13 27 0 0 0.016723 0 0 RPTOR 57521 broad.mit.edu 37 17 78858859 78858859 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr17:78858859G>C ENST00000306801.3 + 17 2256 c.1894G>C c.(1894-1896)Gag>Cag p.E632Q RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 632 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 CAACTCTGCAGAGAGGACGGA 0.672000 4 13 0 0 0.014758 0 0 ZNF594 84622 broad.mit.edu 37 17 5085147 5085147 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr17:5085147C>G ENST00000399604.4 - 1 2545 c.2405G>C c.(2404-2406)aGa>aCa p.R802T ZNF594_ENST00000575779.1_Missense_Mutation_p.R802T Q96JF6 ZN594_HUMAN zinc finger protein 594 802 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CTCAGAAGGTCTGAGCTCTGA 0.403000 40 114 0 0 0.010771 0 0 GPR25 2848 broad.mit.edu 37 1 200843070 200843070 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:200843070C>G ENST00000304244.2 + 1 988 c.905C>G c.(904-906)gCc>gGc p.A302G NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 302 integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 AACAGCTGCGCCAACCCGCTC 0.731000 9 88 0 0 0.006214 0 0 CPNE2 221184 broad.mit.edu 37 16 57149418 57149418 + Silent SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr16:57149418C>T ENST00000535318.2 + 5 752 c.391C>T c.(391-393)Ctg>Ttg p.L131L CPNE2_ENST00000537605.1_Silent_p.L29L|CPNE2_ENST00000565874.1_Silent_p.L131L|CPNE2_ENST00000290776.8_Silent_p.L131L Q96FN4 CPNE2_HUMAN copine II 131 central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) CACTAGGCCTCTGCTGCTGCT 0.622000 14 46 0 0 0.003163 0 0 ATG16L1 55054 broad.mit.edu 37 2 234202923 234202923 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:234202923C>T ENST00000392017.4 + 18 2008 c.1751C>T c.(1750-1752)gCg>gTg p.A584V ATG16L1_ENST00000347464.5_Missense_Mutation_p.A421V|ATG16L1_ENST00000392018.1_Missense_Mutation_p.A601V|ATG16L1_ENST00000392020.4_Missense_Mutation_p.A565V|ATG16L1_ENST00000373525.5_Missense_Mutation_p.A405V NM_001190266.1|NM_001190267.1|NM_030803.6 NP_001177195.1|NP_001177196.1|NP_110430.5 Q676U5 A16L1_HUMAN autophagy related 16-like 1 (S. cerevisiae) 584 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) AATGCGGTGGCGTGGTCGCCC 0.537000 14 25 0 0 0.004007 0 0 TRAPPC9 83696 broad.mit.edu 37 8 140744287 140744287 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr8:140744287C>T ENST00000389328.4 - 22 3522 c.3508G>A c.(3508-3510)Gtg>Atg p.V1170M TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V1063M|TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.V1072M NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 1072 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TAGTTGTGCACGCCGTTCTGG 0.682000 3 16 0 0 0.004672 0 0 UPF2 26019 broad.mit.edu 37 10 11994141 11994141 + Missense_Mutation SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr10:11994141C>A ENST00000356352.2 - 14 3431 c.2958G>T c.(2956-2958)aaG>aaT p.K986N UPF2_ENST00000397053.2_Missense_Mutation_p.K986N|UPF2_ENST00000357604.5_Missense_Mutation_p.K986N Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 986 MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) AGAGTTTGATCTTTGGTCTTA 0.368000 87 82 8.84886e-50 1.05633e-49 0.014410 1 0 EPPK1 83481 broad.mit.edu 37 8 144947143 144947143 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr8:144947143G>A ENST00000525985.1 - 2 350 c.279C>T c.(277-279)ctC>ctT p.L93L P58107 EPIPL_HUMAN epiplakin 1 93 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGACACAGGGAGCAGCTGGC 0.701000 5 24 0 0 0.014758 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37451602 37451602 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr10:37451602C>G ENST00000374660.1 + 16 1857 c.1758C>G c.(1756-1758)ttC>ttG p.F586L ANKRD30A_ENST00000361713.1_Missense_Mutation_p.F586L|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.F586L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 642 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.F586L(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CATCTGCCTTCGAGGTATTTA 0.328000 47 65 0 0 0.014410 0 0 PKD1L1 168507 broad.mit.edu 37 7 47924243 47924243 + Missense_Mutation SNP T T C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:47924243T>C ENST00000289672.2 - 19 3268 c.3218A>G c.(3217-3219)tAt>tGt p.Y1073C NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1073 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GTCACTGTAATAGGCTTCAAA 0.448000 9 29 0 0 0.006214 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 226 0 0 0.001984 0 0 MTTP 4547 broad.mit.edu 37 4 100534196 100534196 + Missense_Mutation SNP T T C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr4:100534196T>C ENST00000457717.1 + 16 2372 c.2116T>C c.(2116-2118)Ttt>Ctt p.F706L RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.F733L|MTTP_ENST00000265517.5_Missense_Mutation_p.F706L NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 706 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) ACCTGTCACCTTTTTCAACGG 0.478000 3 120 0 0 0.004672 0 0 IFT80 57560 broad.mit.edu 37 3 159997002 159997002 + Silent SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr3:159997002C>G ENST00000326448.7 - 16 2247 c.1815G>C c.(1813-1815)gtG>gtC p.V605V RP11-432B6.3_ENST00000483754.1_Silent_p.V776V|IFT80_ENST00000483465.1_Silent_p.V468V|IFT80_ENST00000496589.1_Silent_p.V468V NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 605 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GACAAAGTCTCACAGCATCTT 0.343000 13 117 0 0 0.003163 0 0 REG1P 5969 broad.mit.edu 37 2 79364299 79364299 + RNA SNP G G T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:79364299G>T ENST00000444841.1 - 0 285 GAGAGTGGCAGCTTCCCCTCC 0.493000 16 13 6.72482e-11 7.55554e-11 0.003163 1 0 FAM13A 10144 broad.mit.edu 37 4 89744151 89744151 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr4:89744151G>C ENST00000395002.2 - 1 361 c.5C>G c.(4-6)gCt>gGt p.A2G FAM13A_ENST00000502459.1_Intron|FAM13A_ENST00000503556.1_Missense_Mutation_p.A2G|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000264344.5_Intron|FAM13A_ENST00000513837.1_Missense_Mutation_p.A2G|FAM13A_ENST00000508369.1_Missense_Mutation_p.A2G NM_001015045.2|NM_001265579.1 NP_001015045.1|NP_001252508.1 O94988 FA13A_HUMAN family with sequence similarity 13, member A 0 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 GATTTCACAAGCCATTCTCGT 0.383000 41 118 0 0 0.008740 0 0 ALMS1 7840 broad.mit.edu 37 2 73716878 73716878 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:73716878G>C ENST00000264448.6 + 10 7900 c.7789G>C c.(7789-7791)Gat>Cat p.D2597H ALMS1_ENST00000409009.1_Missense_Mutation_p.D2555H NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2597 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TCCACAACTAGATAGACACCC 0.473000 13 46 0 0 0.016723 0 0 THSD7B 80731 broad.mit.edu 37 2 138414381 138414381 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:138414381C>G ENST00000409968.1 + 23 4299 c.4121C>G c.(4120-4122)aCa>aGa p.T1374R THSD7B_ENST00000413152.2_Missense_Mutation_p.T1346R|THSD7B_ENST00000272643.3_Missense_Mutation_p.T1377R|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGCCATTTAACAGAATGGTCA 0.473000 5 32 0 0 0.014758 0 0 NR2C1 7181 broad.mit.edu 37 12 95451597 95451597 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr12:95451597G>A ENST00000333003.5 - 6 932 c.602C>T c.(601-603)gCc>gTc p.A201V NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V|NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V NM_003297.3 NP_003288.2 P13056 NR2C1_HUMAN nuclear receptor subfamily 2, group C, member 1 201 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor PML body sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 TGTTGAAGCGGCACAGTTGGA 0.343000 4 147 0 0 0.014758 0 0 RIMBP2 23504 broad.mit.edu 37 12 130921646 130921646 + Nonsense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr12:130921646G>C ENST00000261655.4 - 10 1959 c.1796C>G c.(1795-1797)tCa>tGa p.S599* RIMBP2_ENST00000536002.1_Nonsense_Mutation_p.S507*|RIMBP2_ENST00000535703.1_Nonsense_Mutation_p.S507* NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 599 Pro-rich. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TAATGGCTTTGATTGGGGTGC 0.652000 4 16 0 0 0.014758 0 0 KIAA1683 80726 broad.mit.edu 37 19 18377335 18377335 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr19:18377335G>C ENST00000392413.3 - 3 1230 c.1015C>G c.(1015-1017)Cta>Gta p.L339V KIAA1683_ENST00000600328.2_Missense_Mutation_p.L339V|KIAA1683_ENST00000600359.2_Missense_Mutation_p.L293V NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 339 Thr-rich. mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GTCTGGAGTAGAGTCTTGGTG 0.567000 13 53 0 0 0.013537 0 0 OTOGL 283310 broad.mit.edu 37 12 80660353 80660353 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr12:80660353G>A ENST00000458043.2 + 20 2326 c.2320G>A c.(2320-2322)Gaa>Aaa p.E774K OTOGL_ENST00000547103.1_Missense_Mutation_p.E774K NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TAATTGTCCGGAAGGCAAATT 0.463000 13 45 0 0 0.016723 0 0 SGIP1 84251 broad.mit.edu 37 1 67154866 67154866 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:67154866G>C ENST00000371037.4 + 16 1428 c.1351G>C c.(1351-1353)Gtt>Ctt p.V451L SGIP1_ENST00000371035.3_Missense_Mutation_p.V241L|SGIP1_ENST00000371036.3_Missense_Mutation_p.V251L|SGIP1_ENST00000371039.1_Missense_Mutation_p.V252L|SGIP1_ENST00000237247.6_Missense_Mutation_p.V482L NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 451 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CACTCCTTTGGTTCCTTGCAG 0.532000 87 159 0 0 0.014410 0 0 LRP5 4041 broad.mit.edu 37 11 68201226 68201226 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr11:68201226G>A ENST00000294304.7 + 18 4026 c.3920G>A c.(3919-3921)cGg>cAg p.R1307Q NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1307 LDL-receptor class A 2. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCCTGCGCGCGGGGTCAGTGT 0.711000 26 27 0 0 0.007291 0 0 ZNF827 152485 broad.mit.edu 37 4 146823888 146823888 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr4:146823888C>T ENST00000508784.1 - 2 750 c.523G>A c.(523-525)Gag>Aag p.E175K ZNF827_ENST00000379448.4_Missense_Mutation_p.E175K|ZNF827_ENST00000513320.1_Intron Q17R98 ZN827_HUMAN zinc finger protein 827 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) TCCTGCTTCTCGGCCAACTTC 0.537000 4 93 0 0 0.009096 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|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, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 33 0 0 0.004672 0 0 TRIM26 7726 broad.mit.edu 37 6 30166498 30166498 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr6:30166498C>G ENST00000454678.2 - 4 819 c.383G>C c.(382-384)cGg>cCg p.R128P TRIM26_ENST00000453195.1_Missense_Mutation_p.R128P|TRIM26_ENST00000437089.1_Missense_Mutation_p.R128P NM_003449.4 NP_003440.1 Q12899 TRI26_HUMAN tripartite motif containing 26 128 DNA binding|zinc ion binding lung(1)|ovary(2) 3 CCTGTGCTCCCGGGACTCCCG 0.642000 11 14 0 0 0.010729 0 0 CTNNA2 1496 broad.mit.edu 37 2 80085146 80085146 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:80085146G>A ENST00000466387.1 + 8 1030 c.306G>A c.(304-306)acG>acA p.T102T CTNNA2_ENST00000541047.1_Silent_p.T102T|CTNNA2_ENST00000496558.1_Silent_p.T102T|CTNNA2_ENST00000540488.1_Silent_p.T102T|CTNNA2_ENST00000402739.4_Silent_p.T102T|CTNNA2_ENST00000361291.4_Silent_p.T136T P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 102 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CAGGTGAGACGATGCGGATCG 0.552000 28 87 0 0 0.009535 0 0 HIP1 3092 broad.mit.edu 37 7 75168691 75168691 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:75168691G>A ENST00000336926.6 - 30 3039 c.3013C>T c.(3013-3015)Cgg>Tgg p.R1005W HIP1_ENST00000434438.2_Missense_Mutation_p.R954W NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 1005 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TGCTTTTTCCGAAGCTCTCCC 0.502000 T PDGFRB CMML 85 293 0 0 0.014410 0 0 ANK2 287 broad.mit.edu 37 4 114275313 114275313 + Missense_Mutation SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr4:114275313C>A ENST00000357077.4 + 38 5592 c.5539C>A c.(5539-5541)Cca>Aca p.P1847T ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P1814T|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1814 Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCCAGTATCACCATCAAGTAA 0.473000 56 179 2.5401e-28 2.9948e-28 0.014410 1 0 POM121 9883 broad.mit.edu 37 7 72413639 72413639 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:72413639C>T ENST00000395270.1 + 14 3353 c.2312C>T c.(2311-2313)tCg>tTg p.S771L POM121_ENST00000358357.3_Missense_Mutation_p.S771L|POM121_ENST00000434423.2_Missense_Mutation_p.S1036L|POM121_ENST00000446813.1_Missense_Mutation_p.S771L|POM121_ENST00000257622.4_Missense_Mutation_p.S771L NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1036 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) GCCACGCACTCGGCGTTTGGG 0.652000 10 63 0 0 0.020292 0 0 VPS26B 112936 broad.mit.edu 37 11 134095034 134095034 + Silent SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr11:134095034C>T ENST00000281187.5 + 1 496 c.18C>T c.(16-18)ttC>ttT p.F6F VPS26B_ENST00000525095.2_Silent_p.F6F NM_052875.3 NP_443107.1 Q4G0F5 VP26B_HUMAN vacuolar protein sorting 26 homolog B (S. pombe) 6 protein transport|vacuolar transport cytosol|retromer complex breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7) 14 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) TCTTCGGCTTCGGGCAGAGCG 0.627000 5 10 0 0 0.001984 0 0 AKAP9 10142 broad.mit.edu 37 7 91695764 91695764 + Silent SNP T T C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:91695764T>C ENST00000359028.2 + 27 6495 c.6270T>C c.(6268-6270)caT>caC p.H2090H AKAP9_ENST00000356239.3_Silent_p.H2078H|AKAP9_ENST00000358100.2_Silent_p.H2090H Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2090 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACAGAGAACATGAGAGAGATG 0.358000 T BRAF papillary thyroid 15 58 0 0 0.004990 0 0 USH2A 7399 broad.mit.edu 37 1 215824103 215824103 + Nonsense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:215824103C>T ENST00000366943.2 - 65 14560 c.14174G>A c.(14173-14175)tGg>tAg p.W4725* USH2A_ENST00000307340.3_Nonsense_Mutation_p.W4725* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4725 Fibronectin type-III 32. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCACCATGTCCAGCTACTGGG 0.522000 HNSCC(13;0.011) 62 263 0 0 0.014410 0 0 COL5A3 50509 broad.mit.edu 37 19 10107155 10107155 + Missense_Mutation SNP A A T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr19:10107155A>T ENST00000264828.3 - 13 1461 c.1376T>A c.(1375-1377)gTc>gAc p.V459D CTD-2553C6.1_ENST00000592332.1_RNA NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 459 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CTGGAATGAGACTGGGGGGCC 0.597000 13 41 0 0 0.004007 0 0 DOCK3 1795 broad.mit.edu 37 3 51317591 51317591 + Missense_Mutation SNP T T C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr3:51317591T>C ENST00000266037.9 + 27 2901 c.2878T>C c.(2878-2880)Ttc>Ctc p.F960L NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 960 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TGACACCCATTTCCAGCACCT 0.532000 10 17 0 0 0.008291 0 0 C20orf194 25943 broad.mit.edu 37 20 3311319 3311319 + Missense_Mutation SNP G G T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr20:3311319G>T ENST00000252032.9 - 12 1141 c.1074C>A c.(1072-1074)agC>agA p.S358R C20orf194_ENST00000453730.2_Missense_Mutation_p.S97R NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 358 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 TGGGCAGCTTGCTGTCACCAC 0.388000 7 17 0.00307968 0.00324983 0.003080 1 0 DDX56 54606 broad.mit.edu 37 7 44610375 44610375 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:44610375C>T ENST00000258772.5 - 7 1098 c.992G>A c.(991-993)cGa>cAa p.R331Q DDX56_ENST00000431640.1_Intron|DDX56_ENST00000485367.1_5'UTR NM_001257189.1|NM_019082.3 NP_001244118.1|NP_061955.1 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 56 331 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1) 16 TTTGGGCCCTCGGCCCCGACG 0.527000 32 75 0 0 0.013726 0 0 GPR26 2849 broad.mit.edu 37 10 125426287 125426287 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr10:125426287G>A ENST00000284674.1 + 1 417 c.364G>A c.(364-366)Gac>Aac p.D122N NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 122 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) GCGCCTCCGCGACGCGGCGCT 0.701000 3 6 0 0 0.009096 0 0 STEAP4 79689 broad.mit.edu 37 7 87908865 87908865 + Missense_Mutation SNP A A T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:87908865A>T ENST00000380079.4 - 5 1329 c.1228T>A c.(1228-1230)Tca>Aca p.S410T AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.S234T NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 410 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) CTGAGATTTGAAGGGCTGAGG 0.448000 22 32 0 0 0.010504 0 0 GRIN3A 116443 broad.mit.edu 37 9 104432608 104432608 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr9:104432608C>T ENST00000361820.3 - 3 2686 c.2086G>A c.(2086-2088)Gaa>Aaa p.E696K NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 696 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CTCTTCCATTCATACAGAGTG 0.488000 29 77 0 0 0.012213 0 0 GRIN3A 116443 broad.mit.edu 37 9 104375732 104375732 + Missense_Mutation SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr9:104375732C>A ENST00000361820.3 - 6 3292 c.2692G>T c.(2692-2694)Ggg>Tgg p.G898W GRIN3A_ENST00000479772.1_5'UTR NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 898 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TCCATAAACCCATGTGACTTG 0.463000 22 8 2.27525e-19 2.66609e-19 0.021523 1 0 FHL5 9457 broad.mit.edu 37 6 97063544 97063544 + Missense_Mutation SNP A A G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr6:97063544A>G ENST00000326771.2 + 7 1131 c.751A>G c.(751-753)Aac>Gac p.N251D FHL5_ENST00000541107.1_Missense_Mutation_p.N251D NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 251 LIM zinc-binding 4. nucleus zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) CGAATGCTTTAACTGCGGGAA 0.448000 8 53 0 0 0.004990 0 0 CPNE2 221184 broad.mit.edu 37 16 57153158 57153158 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr16:57153158G>A ENST00000535318.2 + 7 920 c.559G>A c.(559-561)Gat>Aat p.D187N CPNE2_ENST00000537605.1_Missense_Mutation_p.D85N|CPNE2_ENST00000565874.1_Missense_Mutation_p.D187N|CPNE2_ENST00000290776.8_Missense_Mutation_p.D187N Q96FN4 CPNE2_HUMAN copine II 187 C2 2. central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) GCCAGGAGACGATGGCAAGTG 0.587000 30 90 0 0 0.009535 0 0 SLC15A2 6565 broad.mit.edu 37 3 121646672 121646672 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr3:121646672G>C ENST00000489711.1 + 14 1580 c.1192G>C c.(1192-1194)Gag>Cag p.E398Q SLC15A2_ENST00000295605.2_Missense_Mutation_p.E367Q NM_021082.3 NP_066568.3 Q16348 S15A2_HUMAN solute carrier family 15 (oligopeptide transporter), member 2 398 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) GGCAGCTGTAGAGATAAAAAT 0.388000 15 43 0 0 0.004990 0 0 UPF2 26019 broad.mit.edu 37 10 11994167 11994167 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr10:11994167C>T ENST00000356352.2 - 14 3405 c.2932G>A c.(2932-2934)Gat>Aat p.D978N UPF2_ENST00000397053.2_Missense_Mutation_p.D978N|UPF2_ENST00000357604.5_Missense_Mutation_p.D978N Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 978 MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TCTAGTGTATCACTGATCATG 0.353000 76 66 0 0 0.014410 0 0 LRP1B 53353 broad.mit.edu 37 2 141032089 141032089 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:141032089G>A ENST00000389484.3 - 85 14017 c.13046C>T c.(13045-13047)aCg>aTg p.T4349M NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4349 EGF-like 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTCATAGCGCGTTGGACAGAC 0.423000 TSP Lung(27;0.18) 17 32 0 0 0.004007 0 0 TBCK 93627 broad.mit.edu 37 4 107156504 107156504 + Missense_Mutation SNP G G T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr4:107156504G>T ENST00000273980.4 - 16 1818 c.1371C>A c.(1369-1371)aaC>aaA p.N457K TBCK_ENST00000394706.3_Missense_Mutation_p.N418K|TBCK_ENST00000361687.4_Missense_Mutation_p.N394K|TBCK_ENST00000394708.2_Missense_Mutation_p.N457K|TBCK_ENST00000432496.2_Missense_Mutation_p.N457K Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 457 intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 TCCAGATTTGGTTTTTTTTAT 0.363000 10 28 6.40141e-05 6.90774e-05 0.010729 1 0 ATP10A 57194 broad.mit.edu 37 15 25966813 25966813 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr15:25966813C>G ENST00000356865.6 - 7 1465 c.1354G>C c.(1354-1356)Gat>Cat p.D452H NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 452 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CCATTTGCATCATGAGAATAT 0.468000 17 69 0 0 0.006122 0 0 CHRD 8646 broad.mit.edu 37 3 184102418 184102418 + Missense_Mutation SNP G G T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr3:184102418G>T ENST00000204604.1 + 13 1780 c.1534G>T c.(1534-1536)Gac>Tac p.D512Y CHRD_ENST00000545352.1_Missense_Mutation_p.D142Y|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.D512Y|CHRD_ENST00000348986.3_Missense_Mutation_p.D472Y NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 512 CHRD 3. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGACTTCCCAGACGGAGAGCT 0.637000 23 90 1.50039e-11 1.69571e-11 0.012319 1 0 SMEK1 55671 broad.mit.edu 37 14 91948149 91948149 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr14:91948149G>A ENST00000554684.1 - 4 1182 c.686C>T c.(685-687)gCt>gTt p.A229V SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554943.1_Missense_Mutation_p.A229V|SMEK1_ENST00000337238.4_Missense_Mutation_p.A229V Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 (Dictyostelium) 229 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1) 6 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) TTGTGATAAAGCAGGATCATA 0.348000 19 38 0 0 0.014323 0 0 PRAME 23532 broad.mit.edu 37 22 22892735 22892735 + Silent SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr22:22892735C>G ENST00000543184.1 - 4 1228 c.366G>C c.(364-366)ctG>ctC p.L122L PRAME_ENST00000405655.3_Silent_p.L122L|PRAME_ENST00000424204.2_Silent_p.L106L|PRAME_ENST00000398741.1_Silent_p.L122L|PRAME_ENST00000398743.2_Silent_p.L122L|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000402697.1_Silent_p.L122L|PRAME_ENST00000539862.1_Silent_p.L106L NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 122 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TCCGTAAATCCAGCACTTGAA 0.448000 8 47 0 0 0.010729 0 0 OC90 729330 broad.mit.edu 37 8 133048660 133048660 + Missense_Mutation SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr8:133048660C>A ENST00000262283.5 - 13 1372 c.1273G>T c.(1273-1275)Gca>Tca p.A425S OC90_ENST00000443356.2_Missense_Mutation_p.A229S|OC90_ENST00000603859.1_Intron|OC90_ENST00000254627.3_Intron Q02509 OC90_HUMAN otoconin 90 229 Phospholipase A2-like 3. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity p.A425S(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TCAGTCTCTGCAGCCACTGTG 0.463000 16 100 0.000566183 0.000607534 0.004990 1 0 STAT2 6773 broad.mit.edu 37 12 56743976 56743976 + Splice_Site SNP T T A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr12:56743976T>A ENST00000314128.4 - 13 1139 c.e13-2 STAT2_ENST00000418572.2_Splice_Site|STAT2_ENST00000557235.1_Splice_Site P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 TTCCGGAAGCTGTTCCAGGAG 0.423000 29 83 0 0 0.006320 0 0 NBEA 26960 broad.mit.edu 37 13 35685031 35685031 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr13:35685031G>C ENST00000400445.3 + 13 2452 c.1918G>C c.(1918-1920)Gta>Cta p.V640L NBEA_ENST00000379939.2_Missense_Mutation_p.V640L|NBEA_ENST00000310336.4_Missense_Mutation_p.V640L|NBEA_ENST00000540320.1_Missense_Mutation_p.V640L NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 640 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) AGTAGGAACAGTATTACAGCT 0.373000 19 43 0 0 0.007413 0 0 FHL3 2275 broad.mit.edu 37 1 38463526 38463526 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:38463526C>G ENST00000373016.3 - 5 686 c.518G>C c.(517-519)gGa>gCa p.G173A FHL3_ENST00000485803.1_5'UTR NM_001243878.1|NM_004468.4 NP_001230807.1|NP_004459.2 Q13643 FHL3_HUMAN four and a half LIM domains 3 173 LIM zinc-binding 3. muscle organ development zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GTATGTCACTCCACCCTGTGT 0.607000 9 31 0 0 0.006214 0 0 OR3A2 4995 broad.mit.edu 37 17 3181289 3181289 + Missense_Mutation SNP A A C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr17:3181289A>C ENST00000408891.2 - 1 979 c.941T>G c.(940-942)tTt>tGt p.F314C NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 314 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 CCTCCCCAAAAATATTTGCCA 0.463000 8 48 0 0 0.006214 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154987574 154987574 + Silent SNP A A C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:154987574A>C ENST00000368426.3 + 3 575 c.438A>C c.(436-438)ctA>ctC p.L146L ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Silent_p.L146L|ZBTB7B_ENST00000417934.2_Silent_p.L180L|ZBTB7B_ENST00000292176.2_Silent_p.L146L NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 146 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCAGTGGGCTAGAAGCTCCCA 0.627000 53 28 0 0 0.014410 0 0 TECTB 6975 broad.mit.edu 37 10 114044408 114044408 + Silent SNP C C T rs146576556 TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr10:114044408C>T ENST00000369422.3 + 2 192 c.192C>T c.(190-192)caC>caT p.H64H NM_058222.1 NP_478129.1 Q96PL2 TECTB_HUMAN tectorin beta 64 ZP. anchored to membrane|plasma membrane|proteinaceous extracellular matrix kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) ATGGGGTCCACGAAGGAGGTT 0.488000 25 14 0 0 0.021523 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 141 0 0 0.014758 0 0 TRIP10 9322 broad.mit.edu 37 19 6743214 6743214 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr19:6743214G>C ENST00000600428.1 + 5 677 c.31G>C c.(31-33)Gaa>Caa p.E11Q TRIP10_ENST00000313285.8_Missense_Mutation_p.E119Q|TRIP10_ENST00000313244.9_Missense_Mutation_p.E119Q|TRIP10_ENST00000596758.1_Missense_Mutation_p.E119Q Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 119 FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 GCACTTCCAAGAAGGGCGGCG 0.562000 9 16 0 0 0.008291 0 0 NPR3 4883 broad.mit.edu 37 5 32789781 32789781 + Missense_Mutation SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr5:32789781C>A ENST00000326958.1 + 1 837 c.274C>A c.(274-276)Ccc>Acc p.P92T NPR3_ENST00000265074.8_3'UTR CCTTCTTTGCCCCAAATGCAT 0.403000 18 41 1.67942e-08 1.86493e-08 0.006122 1 0 KIFAP3 22920 broad.mit.edu 37 1 169923234 169923234 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:169923234C>T ENST00000367765.1 - 19 3572 c.2071G>A c.(2071-2073)Gaa>Aaa p.E691K KIFAP3_ENST00000367767.1_Missense_Mutation_p.E687K|KIFAP3_ENST00000361580.2_Missense_Mutation_p.E731K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E653K|KIFAP3_ENST00000540905.1_Missense_Mutation_p.E433K NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 731 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATGGCTCCTTCAGAGGCAATT 0.358000 41 186 0 0 0.010771 0 0 PCLO 27445 broad.mit.edu 37 7 82585126 82585126 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:82585126C>G ENST00000423517.2 - 5 5480 c.5143G>C c.(5143-5145)Gag>Cag p.E1715Q PCLO_ENST00000333891.8_Missense_Mutation_p.E1715Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1646 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAAGATCCCTCTCCCCTTGAC 0.463000 21 48 0 0 0.008871 0 0 CCDC114 93233 broad.mit.edu 37 19 48800482 48800482 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr19:48800482G>A ENST00000315396.7 - 14 2446 c.1764C>T c.(1762-1764)ttC>ttT p.F588F NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 588 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) TGGTGGAGCCGAAGGTCACGT 0.657000 13 18 0 0 0.013537 0 0 KMT2D 8085 broad.mit.edu 37 12 49441813 49441813 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr12:49441813C>T ENST00000301067.7 - 14 4170 c.4171G>A c.(4171-4173)Gag>Aag p.E1391K NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGGTGGCCCTCTGCCCCCCGG 0.562000 31 49 0 0 0.010818 0 0 NOL8 55035 broad.mit.edu 37 9 95062242 95062242 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr9:95062242G>A ENST00000545558.1 - 14 3724 c.3232C>T c.(3232-3234)Cgt>Tgt p.R1078C NOL8_ENST00000358855.4_Missense_Mutation_p.R1010C|NOL8_ENST00000542053.1_Missense_Mutation_p.R1010C|NOL8_ENST00000535387.1_Missense_Mutation_p.R1040C|NOL8_ENST00000442668.2_Missense_Mutation_p.R1078C Q76FK4 NOL8_HUMAN nucleolar protein 8 1078 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 TCTTGTAAACGAGGGTCTTCC 0.413000 74 131 0 0 0.014410 0 0 GLT6D1 360203 broad.mit.edu 37 9 138531020 138531020 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr9:138531020C>G ENST00000371763.1 - 2 267 c.14G>C c.(13-15)aGa>aCa p.R5T NM_182974.2 NP_892019.2 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 5 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) TAACAGCATTCTTTTAGAATT 0.289000 13 32 0 0 0.004007 0 0 DNAAF2 55172 broad.mit.edu 37 14 50092739 50092739 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr14:50092739G>A ENST00000298292.8 - 3 2115 c.2035C>T c.(2035-2037)Cta>Tta p.L679L DNAAF2_ENST00000406043.3_Silent_p.L631L NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 679 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 TTTCCTTGTAGCTGATCAGAG 0.303000 3 8 0 0 0.009096 0 0 IKZF1 10320 broad.mit.edu 37 7 50358680 50358680 + Missense_Mutation SNP A A G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:50358680A>G ENST00000331340.3 + 2 178 c.23A>G c.(22-24)gAc>gGc p.D8G IKZF1_ENST00000359197.5_Missense_Mutation_p.D8G|IKZF1_ENST00000343574.5_Missense_Mutation_p.D8G|IKZF1_ENST00000439701.1_Missense_Mutation_p.D8G|IKZF1_ENST00000357364.4_Missense_Mutation_p.D8G|IKZF1_ENST00000438033.1_Missense_Mutation_p.D8G|IKZF1_ENST00000413698.1_Missense_Mutation_p.D8G|IKZF1_ENST00000349824.4_Missense_Mutation_p.D8G|IKZF1_ENST00000346667.4_Missense_Mutation_p.D8G|IKZF1_ENST00000492782.1_3'UTR|IKZF1_ENST00000440768.2_Missense_Mutation_p.D8G NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 8 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(41) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GAGGGTCAAGACATGTCCCAA 0.438000 """D,T""" BCL6 """ALL, DLBCL""" 45 138 0 0 0.014410 0 0 SUN1 23353 broad.mit.edu 37 7 912967 912967 + Silent SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:912967G>A ENST00000456758.2 + 25 2924 c.2924G>A c.(2923-2925)tGa>tAa p.*975* SUN1_ENST00000425407.2_Silent_p.*703*|SUN1_ENST00000405266.1_Silent_p.*823*|SUN1_ENST00000452783.2_Silent_p.*683*|SUN1_ENST00000389574.3_Silent_p.*703*|SUN1_ENST00000413514.2_Silent_p.*584*|SUN1_ENST00000401592.1_Silent_p.*786* O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 0 cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCTGTCAAGTGAAGACACTAC 0.423000 OREG0017816 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 67 0 0 0.003163 0 0 PSMC3 5702 broad.mit.edu 37 11 47444246 47444246 + Missense_Mutation SNP G G C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr11:47444246G>C ENST00000298852.3 - 8 920 c.763C>G c.(763-765)Cag>Gag p.Q255E PSMC3_ENST00000602866.1_Missense_Mutation_p.Q239E|PSMC3_ENST00000530912.1_Missense_Mutation_p.Q213E NM_002804.4 NP_002795.2 P17980 PRS6A_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 3 255 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 complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1) 17 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) TGCACCAGCTGGGGGCCAGCC 0.547000 29 110 0 0 0.008361 0 0 ARCN1 372 broad.mit.edu 37 11 118468432 118468432 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr11:118468432G>A ENST00000359415.4 + 10 1540 c.1375G>A c.(1375-1377)Ggc>Agc p.G459S ARCN1_ENST00000264028.4_Missense_Mutation_p.G418S|ARCN1_ENST00000392859.3_Missense_Mutation_p.G330S|ARCN1_ENST00000534182.2_Intron P48444 COPD_HUMAN archain 1 418 MHD. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GTCTGGTGTCGGCGCGCCTGT 0.493000 4 22 0 0 0.014758 0 0 TERT 7015 broad.mit.edu 37 5 1253933 1253933 + Silent SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr5:1253933C>A ENST00000310581.5 - 16 3366 c.3309G>T c.(3307-3309)ctG>ctT p.L1103L TERT_ENST00000334602.6_Silent_p.L1040L|TERT_ENST00000296820.5_3'UTR NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 1103 CTE. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GCTTCCGACTCAGCTGCGTCT 0.662000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 13 133 1.3612e-06 1.49419e-06 0.003163 1 0 KLHDC3 116138 broad.mit.edu 37 6 42985674 42985674 + Missense_Mutation SNP A A C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr6:42985674A>C ENST00000326974.4 + 4 610 c.415A>C c.(415-417)Atc>Ctc p.I139L KLHDC3_ENST00000332245.8_Missense_Mutation_p.I80L|KLHDC3_ENST00000244670.8_Intron NM_057161.3 NP_476502.1 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 139 reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCTAGGCAAGATCATGTACAT 0.512000 27 77 0 0 0.005443 0 0 TMEM145 284339 broad.mit.edu 37 19 42827922 42827922 + Missense_Mutation SNP T T C TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr19:42827922T>C ENST00000301204.3 + 14 1423 c.1382T>C c.(1381-1383)aTc>aCc p.I461T NM_173633.2 NP_775904.2 Q8NBT3 TM145_HUMAN transmembrane protein 145 461 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) CTCTTCTCCATCCCCCCGCCC 0.706000 3 53 0 0 0.014758 0 0 FBN2 2201 broad.mit.edu 37 5 127595471 127595471 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr5:127595471C>T ENST00000508053.1 - 71 9389 c.8415G>A c.(8413-8415)atG>atA p.M2805I FBN2_ENST00000262464.4_Missense_Mutation_p.M2805I P35556 FBN2_HUMAN fibrillin 2 2805 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGTTGAACTTCATGTTGACGG 0.517000 47 44 0 0 0.014410 0 0 PMS2 5395 broad.mit.edu 37 7 6043690 6043690 + Splice_Site SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr7:6043690C>G ENST00000265849.7 - 3 269 c.e3-1 PMS2_ENST00000406569.3_Splice_Site|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Splice_Site NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) AGCTTTAGATCTAGAAAGttt 0.294000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 33 78 0 0 0.012213 0 0 LRP1B 53353 broad.mit.edu 37 2 141116452 141116452 + Missense_Mutation SNP G G A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:141116452G>A ENST00000389484.3 - 73 12166 c.11195C>T c.(11194-11196)tCg>tTg p.S3732L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3732 LDL-receptor class A 31. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATTTGCTCCGACTGTAGGCA 0.388000 TSP Lung(27;0.18) 34 42 0 0 0.013726 0 0 IFT172 26160 broad.mit.edu 37 2 27677472 27677472 + Missense_Mutation SNP C C T rs144121974 byFrequency TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr2:27677472C>T ENST00000260570.3 - 31 3530 c.3427G>A c.(3427-3429)Gag>Aag p.E1143K NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1143 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) AGATGAACCTCGGGGGTTTTG 0.493000 14 43 0 0 0.004007 0 0 SLITRK3 22865 broad.mit.edu 37 3 164905937 164905937 + Silent SNP G G T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr3:164905937G>T ENST00000475390.1 - 2 3125 c.2682C>A c.(2680-2682)ccC>ccA p.P894P SLITRK3_ENST00000241274.3_Silent_p.P894P O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 894 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CCACTGTGCAGGGGGCAGGCT 0.552000 HNSCC(40;0.11) 44 59 1.7489e-18 2.02449e-18 0.011902 1 0 CSMD3 114788 broad.mit.edu 37 8 114110999 114110999 + Missense_Mutation SNP C C A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr8:114110999C>A ENST00000297405.5 - 5 1147 c.903G>T c.(901-903)gaG>gaT p.E301D CSMD3_ENST00000455883.2_Missense_Mutation_p.E301D|CSMD3_ENST00000343508.3_Missense_Mutation_p.E261D|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.E301D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 301 CUB 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGGTAGGTGGCTCAGAACCTT 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 60 0.00909568 0.00949331 0.009096 1 0 PSIP1 11168 broad.mit.edu 37 9 15472711 15472711 + Missense_Mutation SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr9:15472711C>G ENST00000380733.4 - 10 1239 c.896G>C c.(895-897)aGa>aCa p.R299T PSIP1_ENST00000380738.4_Missense_Mutation_p.R299T|PSIP1_ENST00000380715.1_Missense_Mutation_p.R299T|PSIP1_ENST00000397519.2_Missense_Mutation_p.R299T|PSIP1_ENST00000380716.4_Missense_Mutation_p.R299T O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 299 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) CATATTCCTTCTGTGAGCAGT 0.373000 37 51 0 0 0.005524 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98469731 98469731 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr10:98469731C>T ENST00000339364.5 - 2 142 c.23G>A c.(22-24)aGa>aAa p.R8K NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 8 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GTCGCATCCTCTGGGCACCCC 0.592000 13 51 0 0 0.016723 0 0 LCE4A 199834 broad.mit.edu 37 1 152681693 152681698 + In_Frame_Del DEL TGTGGT TGTGGT - rs74871420 TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:152681693_152681698delTGTGGT ENST00000368777.1 + 2 398_403 c.142_147delTGTGGT c.(142-147)del p.CG48del LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del Q5TA78 LCE4A_HUMAN late cornified envelope 4A 48 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) CTCTGGGGGCTGTGGTTGCTGCAGCT 0.578 7 203 --- --- --- --- TMEM81 388730 broad.mit.edu 37 1 205052694 205052694 + Frame_Shift_Del DEL C C - TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:205052694delC ENST00000367167.3 - 1 951 c.755delG c.(754-756)gcfs p.G252fs NM_203376.1 NP_976310.1 Q6P7N7 TMM81_HUMAN transmembrane protein 81 252 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) CTGCTGCAGGCCCCCCCTTAG 0.537 7 180 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 10 189 --- --- --- --- SI 6476 broad.mit.edu 37 3 164733816 164733817 + Frame_Shift_Ins INS - - T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr3:164733816_164733817insT ENST00000264382.3 - 32 3873_3874 c.3811_3812insA c.(3811-3813)tggfs p.W1271fs NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1271 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGCTTCACCAATTGTAAAGTCT 0.366 HNSCC(35;0.089) 162 289 --- --- --- --- NCOA7 135112 broad.mit.edu 37 6 126210254 126210258 + Frame_Shift_Del DEL GAGAA GAGAA - TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr6:126210254_126210258delGAGAA ENST00000368357.3 + 10 1406_1410 c.1054_1058delGAGAA c.(1054-1059)gfs p.EK352fs NCOA7_ENST00000229634.9_Frame_Shift_Del_p.EK237fs|NCOA7_ENST00000392477.2_Frame_Shift_Del_p.EK352fs NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 352 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) AGTACCTTTGGAGAAGTCCACAGGA 0.434 41 78 --- --- --- --- DUSP5 1847 broad.mit.edu 37 10 112266854 112266854 + Frame_Shift_Del DEL G G - TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr10:112266854delG ENST00000369583.3 + 3 974 c.690delG c.(688-690)gtfs p.V230fs DUSP5_ENST00000468749.1_3'UTR NM_004419.3 NP_004410.3 Q16690 DUS5_HUMAN dual specificity phosphatase 5 230 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 13 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) GGATCCCTGTGGAAGACAGCC 0.542 82 102 --- --- --- --- CWF19L2 143884 broad.mit.edu 37 11 107207441 107207442 + Splice_Site INS - - A TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr11:107207441_107207442insA ENST00000282251.5 - 15 2230 c.e15-2 NM_152434.2 NP_689647.2 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control (S. pombe) catalytic activity endometrium(4)|kidney(2)|large_intestine(13)|lung(21) 40 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TCTGAACATCTAAAAAAAAAAA 0.257 2 4 --- --- --- --- ESRRAP2 144832 broad.mit.edu 37 13 21835723 21835728 + RNA DEL GGCGAG GGCGAG - TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr13:21835723_21835728delGGCGAG ENST00000427890.1 + 0 61 GATGGACTGAGGCGAGGGGTGGGACT 0.646 2 4 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 6 13 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15343746 15343749 + RNA DEL TCTG TCTG - TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8a04117-0ebc-4c27-83d6-441be47e5fd3 4c569302-a5d1-4106-aec8-c3c4e815de8e g.chr21:15343746_15343749delTCTG ENST00000344693.5 - 0 736 NR_027270.1 CTCTGTGCTTTCTGATGTGCTGCT 0.407 3 4 --- --- --- ---