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 FCGBP 8857 broad.mit.edu 37 19 40424379 40424379 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr19:40424379G>A ENST00000221347.6 - 4 1831 c.1824C>T c.(1822-1824)tgC>tgT p.C608C NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 608 VWFD 1. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CACACAGCCCGCACACCTGGT 0.617000 6 375 0 0 1 0 0 IZUMO1 284359 broad.mit.edu 37 19 49245529 49245529 + Missense_Mutation SNP G G C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr19:49245529G>C ENST00000332955.2 - 7 1084 c.537C>G c.(535-537)atC>atG p.I179M NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 179 Ig-like C2-type. fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) CACAGTCCAGGATCATGTCTT 0.478000 5 490 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 7 1187 0 0 1 0 0 OR1S2 219958 broad.mit.edu 37 11 57970714 57970714 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr11:57970714G>A ENST00000302592.6 - 1 939 c.940C>T c.(940-942)Ctg>Ttg p.L314L NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) AGCTTTCTCAGGGCACCTTTC 0.418000 7 642 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124382161 124382161 + Missense_Mutation SNP A A T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:124382161A>T ENST00000287394.5 - 7 938 c.831T>A c.(829-831)gaT>gaA p.D277E ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 277 Asp-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) catcatcttcatcatcatcat 0.378000 4 210 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155896 22155896 + Missense_Mutation SNP A A C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr19:22155896A>C ENST00000397126.4 - 4 2088 c.1940T>G c.(1939-1941)aTt>aGt p.I647S ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAGACCTTAATAAAGGTTTT 0.398000 5 476 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30032887 30032887 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr11:30032887G>A ENST00000328224.6 - 2 2572 c.1339C>T c.(1339-1341)Cgt>Tgt p.R447C NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 447 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CGGACCAGACGAATGATTCTG 0.587000 12 230 0 0 1 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77528872 77528872 + Missense_Mutation SNP A A G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:77528872A>G ENST00000477717.1 + 5 1227 c.992A>G c.(991-993)gAg>gGg p.E331G NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 331 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AATCATCCTGAGAATAAACCT 0.433000 68 195 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 5 395 0 0 1 0 0 PPP3R2 5535 broad.mit.edu 37 9 104357018 104357018 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr9:104357018G>A ENST00000374806.1 - 1 265 c.195C>T c.(193-195)ttC>ttT p.F65F GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 62 EF-hand 2. calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) CGTCGGTGTCGAAGACGTCGA 0.577000 96 267 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118375293 118375293 + Missense_Mutation SNP C C A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr11:118375293C>A ENST00000534358.1 + 27 8709 c.8686C>A c.(8686-8688)Ctt>Att p.L2896I KMT2A_ENST00000389506.5_Missense_Mutation_p.L2893I|KMT2A_ENST00000354520.4_Missense_Mutation_p.L2855I NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGACATGGGTCTTTTTGAAGT 0.453000 246 905 4.24492e-87 4.56576e-87 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000429426.2_Silent_p.S185S|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, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) 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) TGGTActactgctgctgctgc 0.502000 T MLL ALL 8 325 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48766481 48766481 + Missense_Mutation SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr15:48766481C>G ENST00000316623.5 - 34 4636 c.4181G>C c.(4180-4182)gGa>gCa p.G1394A NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1394 EGF-like 23; calcium-binding. Missing (in MFS). heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACCTGTGTATCCTTCCTTGCA 0.473000 73 148 0 0 1 0 0 GUSBP1 0 broad.mit.edu 37 5 21491446 21491446 + RNA SNP G G T rs150396680 by1000genomes TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr5:21491446G>T ENST00000607545.1 + 0 179 NR_027026.1 TGAATTACCAGATCTCCGTCA 0.532000 5 114 3.07112e-06 3.10468e-06 1 1 0 HS6ST1 9394 broad.mit.edu 37 2 129026421 129026421 + Missense_Mutation SNP A A G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:129026421A>G ENST00000259241.6 - 2 564 c.551T>C c.(550-552)cTa>cCa p.L184P NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 184 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GGGGTCTCGTAGCAGGGTGAT 0.622000 4 180 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546430 11546430 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr12:11546430G>A ENST00000389362.4 - 3 617 c.582C>T c.(580-582)ccC>ccT p.P194P PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GAGGAGGTGGGGGACCTTGGG 0.607000 6 675 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304869 102304869 + RNA SNP T T C rs139457262 by1000genomes TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr15:102304869T>C ENST00000561463.1 + 0 12915 GTCCAACCTGTACTCGCGTGG 0.572000 5 125 0 0 1 0 0 C10orf76 79591 broad.mit.edu 37 10 103792843 103792843 + Missense_Mutation SNP G G C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr10:103792843G>C ENST00000370033.4 - 4 365 c.246C>G c.(244-246)ttC>ttG p.F82L C10orf76_ENST00000311122.5_Missense_Mutation_p.F82L NM_024541.2 NP_078817.2 Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 82 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) TGCAGTGTTGGAATAAGCAAT 0.453000 10 313 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168262442 168262442 + Missense_Mutation SNP G G C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:168262442G>C ENST00000367821.3 + 3 580 c.529G>C c.(529-531)Gcc>Ccc p.A177P NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 177 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) TGTTGGAAGTGCCCATCGAAT 0.463000 9 363 0 0 1 0 0 RPL15 6138 broad.mit.edu 37 3 23959499 23959499 + Missense_Mutation SNP G G C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr3:23959499G>C ENST00000307839.5 + 2 788 c.149G>C c.(148-150)cGa>cCa p.R50P RPL15_ENST00000415719.1_Missense_Mutation_p.R50P|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000435882.1_Missense_Mutation_p.R50P|RPL15_ENST00000413699.1_Missense_Mutation_p.R50P|RPL15_ENST00000456530.2_Missense_Mutation_p.R50P|RPL15_ENST00000354811.5_Missense_Mutation_p.R50P NM_001253379.1|NM_001253380.1|NM_002948.3 NP_001240308.1|NP_001240309.1|NP_002939.2 P61313 RL15_HUMAN ribosomal protein L15 50 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 AAAGCGCGCCGACTGGGCTAC 0.557000 5 195 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 6 418 0 0 1 0 0 ZNF117 51351 broad.mit.edu 37 7 64439457 64439457 + Silent SNP A A G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:64439457A>G ENST00000282869.5 - 4 1776 c.492T>C c.(490-492)ccT>ccC p.P164P NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 164 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) TACATTTGTAAGGTTTTTCTC 0.348000 10 454 0 0 1 0 0 FAM86HP 0 broad.mit.edu 37 3 129821632 129821632 + RNA SNP C C T rs115468595 by1000genomes TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr3:129821632C>T ENST00000500074.2 - 0 513 ACACCTGGCACGTCTCTGGGT 0.662000 5 512 0 0 1 0 0 FNDC3B 64778 broad.mit.edu 37 3 172028627 172028627 + Missense_Mutation SNP G G C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr3:172028627G>C ENST00000336824.4 + 11 1309 c.1210G>C c.(1210-1212)Gac>Cac p.D404H FNDC3B_ENST00000416957.1_Missense_Mutation_p.D404H|FNDC3B_ENST00000415807.2_Missense_Mutation_p.D404H NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 404 Fibronectin type-III 2. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) GGCACCAATTGACAACGGTTC 0.343000 31 747 0 0 1 0 0 RPL23AP53 0 broad.mit.edu 37 8 163191 163191 + RNA SNP C C T rs147223236 by1000genomes TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:163191C>T ENST00000606975.1 - 0 730 AAACATTATTCTTTTATGGTG 0.294000 8 142 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 237024423 237024423 + Splice_Site SNP A A T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:237024423A>T ENST00000366577.5 + 20 2437 c.e20-1 MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding p.?(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) tgtcttttttAGGGCATTGAA 0.323000 7 132 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515435 195515435 + Missense_Mutation SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr3:195515435C>T ENST00000463781.3 - 2 3475 c.3016G>A c.(3016-3018)Gcc>Acc p.A1006T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1008 Repeat.|Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.A1006T(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGAGGGGTGGCGTGACCTGTG 0.582000 3 17 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169267840 169267840 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr5:169267840G>A ENST00000256935.8 + 27 2863 c.2783G>A c.(2782-2784)cGg>cAg p.R928Q DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_5'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 928 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCATGGGCCGGGATCACATT 0.453000 38 122 0 0 1 0 0 RCOR1 23186 broad.mit.edu 37 14 103180896 103180896 + Missense_Mutation SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr14:103180896C>T ENST00000262241.6 + 8 1221 c.995C>T c.(994-996)aCt>aTt p.T332I RCOR1_ENST00000570597.1_Missense_Mutation_p.T329I NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 329 Interaction with KDM1A. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 GCCAATGCCACTGCTGCTACC 0.413000 6 312 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108149680 108149680 + Splice_Site SNP T T G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr3:108149680T>G ENST00000273353.3 - 27 3427 c.3372_splice c.e27+1 p.Q1124_splice NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1124 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 ATTGATTACCTGAAGCTCTTT 0.368000 82 195 0 0 1 0 0 PLEKHB1 58473 broad.mit.edu 37 11 73364058 73364058 + Splice_Site SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr11:73364058C>G ENST00000354190.5 + 5 820 c.390_splice c.e5+1 p.P130_splice PLEKHB1_ENST00000535129.1_Splice_Site_p.P111_splice|PLEKHB1_ENST00000398494.4_Splice_Site_p.P111_splice|PLEKHB1_ENST00000227214.6_Splice_Site_p.P111_splice|PLEKHB1_ENST00000398492.4_Splice_Site_p.P130_splice|PLEKHB1_ENST00000543085.1_Splice_Site_p.P60_splice NM_021200.2 NP_067023.1 Q9UF11 PKHB1_HUMAN pleckstrin homology domain containing, family B (evectins) member 1 130 multicellular organismal development|phototransduction cytoplasm|integral to membrane signal transducer activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 7 AACTCCACCCCGGTGAGTCTC 0.582000 10 142 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79318726 79318726 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr9:79318726G>A ENST00000428286.1 - 9 7926 c.6726C>T c.(6724-6726)gcC>gcT p.A2242A PRUNE2_ENST00000376718.3_Silent_p.A2601A Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2601 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CATTTAAGGAGGCTGGCTGAC 0.428000 78 225 0 0 1 0 0 GALNT16 57452 broad.mit.edu 37 14 69791503 69791503 + Nonsense_Mutation SNP A A T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr14:69791503A>T ENST00000337827.4 + 3 757 c.430A>T c.(430-432)Aag>Tag p.K144* GALNT16_ENST00000448469.3_Nonsense_Mutation_p.K144*|GALNT16_ENST00000553669.1_Nonsense_Mutation_p.K144* NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GCGCACAGTGAAGAGGTAAGT 0.602000 50 117 0 0 1 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74368296 74368296 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr15:74368296G>A ENST00000290438.3 - 8 635 c.595C>T c.(595-597)Cgg>Tgg p.R199W NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A 199 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 TGTAACCACCGCTGGAGGACC 0.572000 7 378 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 11 470 0 0 1 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190779 39190779 + Missense_Mutation SNP T T C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr17:39190779T>C ENST00000344363.5 - 1 328 c.295A>G c.(295-297)Agt>Ggt p.S99G NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 109 extracellular region|keratin filament structural constituent of epidermis p.S99G(2) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACAGCTCCACTGCTGCCCTCC 0.652000 4 116 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29116237 29116237 + Missense_Mutation SNP T T G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr18:29116237T>G ENST00000261590.8 + 11 1705 c.1496T>G c.(1495-1497)cTg>cGg p.L499R NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 499 Cadherin 4. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TGTCCCACACTGATAGAGCCT 0.428000 12 358 0 0 1 0 0 STARD3 0 broad.mit.edu 37 17 37817295 37817295 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr17:37817295G>A ENST00000336308.5 + 13 1314 c.1096G>A c.(1096-1098)Gcc>Acc p.A366T STARD3_ENST00000544210.2_Missense_Mutation_p.A366T|STARD3_ENST00000394250.4_Missense_Mutation_p.A348T|STARD3_ENST00000580611.1_Missense_Mutation_p.A340T NM_001165937.1|NM_006804.3 NP_001159409.1|NP_006795.3 Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 366 START. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ATCAGGGATCGCCACCTCACA 0.617000 6 306 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34383705 34383705 + Missense_Mutation SNP A A T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:34383705A>T ENST00000373381.4 - 5 1086 c.910T>A c.(910-912)Tcc>Acc p.S304T NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 264 CUB 2. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAGAGGGAGGAGCCTTCTGTC 0.537000 37 121 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287625 16287625 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr22:16287625G>A ENST00000343518.6 - 1 312 c.261C>T c.(259-261)gaC>gaT p.D87D NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 87 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TAGCAGAATCGTCGTGGTCTC 0.602000 202 723 0 0 1 0 0 ZNF117 51351 broad.mit.edu 37 7 64439383 64439383 + Missense_Mutation SNP T T C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:64439383T>C ENST00000282869.5 - 4 1850 c.566A>G c.(565-567)gAa>gGa p.E189G NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 189 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) GGGTTTCTCTTCAGTATGAAT 0.363000 11 441 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084295 26084295 + RNA SNP C C T rs76611503 by1000genomes TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr20:26084295C>T ENST00000478176.1 - 0 162 NR_003678.1 p.G41R(1) TGTTTGCCTCCAAATGCTGGA 0.373000 4 232 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871046 170871046 + Silent SNP A A G rs10592951 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr6:170871046A>G ENST00000392092.2 + 3 501 c.222A>G c.(220-222)caA>caG p.Q74Q TBP_ENST00000540980.1_Silent_p.Q54Q|TBP_ENST00000230354.6_Silent_p.Q74Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 74 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcaacagcagcagc 0.567000 4 95 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14262129 14262129 + Silent SNP A A C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr19:14262129A>C ENST00000340736.6 - 24 4278 c.3981T>G c.(3979-3981)ggT>ggG p.G1327G CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1327 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCCGGTCAGCACCCCCGGGCC 0.716000 8 42 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90501079 90501079 + Silent SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr9:90501079C>T ENST00000325643.5 + 4 1743 c.1677C>T c.(1675-1677)gtC>gtT p.V559V NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CACAGTCTGTCATCCCCACTG 0.547000 25 750 0 0 1 0 0 MIR19B2 0 broad.mit.edu 37 X 133303764 133303764 + RNA SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chrX:133303764C>T ENST00000385077.2 - 0 33 NR_029491.1 CGCTGAAATGCAAACCTGCAA 0.388000 58 307 0 0 1 0 0 TMEM248 55069 broad.mit.edu 37 7 66410195 66410195 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:66410195G>A ENST00000341567.4 + 3 647 c.392G>A c.(391-393)cGc>cAc p.R131H NM_017994.4 NP_060464.1 transmembrane protein 248 GGGTATTCCCGCAACGTCACC 0.557000 6 650 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52933891 52933891 + Missense_Mutation SNP A A G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:52933891A>G ENST00000371544.3 - 15 3189 c.2927T>C c.(2926-2928)tTa>tCa p.L976S ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L976S|ZCCHC11_ENST00000371541.1_5'UTR NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 976 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CAAGCCAATTAAAATTTGCTC 0.308000 4 226 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34241168 34241168 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr20:34241168G>A ENST00000374114.3 - 3 2340 c.2077C>T c.(2077-2079)Ccc>Tcc p.P693S RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 693 Gly-rich.|Pro-rich. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CCTGCACTGGGCATTCCCGCA 0.557000 7 438 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6829851 6829851 + Silent SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr19:6829851C>G ENST00000304076.2 + 14 1414 c.1320C>G c.(1318-1320)tcC>tcG p.S440S VAV1_ENST00000596764.1_Silent_p.S408S|VAV1_ENST00000602142.1_Silent_p.S440S|VAV1_ENST00000599806.1_Silent_p.S385S|VAV1_ENST00000539284.1_Silent_p.S343S NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 440 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GGGGAGACTCCTATGACCTCA 0.527000 21 267 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33957115 33957115 + Silent SNP T T C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:33957115T>C ENST00000361328.3 + 6 1410 c.1257T>C c.(1255-1257)gaT>gaC p.D419D ZSCAN20_ENST00000373413.2_Silent_p.D365D NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 419 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GAGCCACAGATGGCCCAGGAG 0.607000 54 162 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4928955 4928955 + Missense_Mutation SNP C C A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr11:4928955C>A ENST00000359350.4 + 1 356 c.356C>A c.(355-357)tCt>tAt p.S119Y MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CTAATTATGTCTTTGGACCGC 0.403000 141 211 8.19216e-75 8.7604e-75 1 1 0 ZNF215 7762 broad.mit.edu 37 11 6953847 6953847 + Missense_Mutation SNP A A G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr11:6953847A>G ENST00000278319.5 + 3 932 c.344A>G c.(343-345)aAc>aGc p.N115S ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Missense_Mutation_p.N115S|ZNF215_ENST00000414517.2_Missense_Mutation_p.N115S NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 115 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) CATCCAAACAACAGTAAAGAT 0.378000 28 141 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 12 592 0 0 1 0 0 ABRA 137735 broad.mit.edu 37 8 107782407 107782407 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:107782407G>A ENST00000311955.3 - 1 66 c.12C>T c.(10-12)ggC>ggT p.G4G NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 4 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) TTTCCTTTTCGCCCGGAGCCA 0.592000 9 320 0 0 1 0 0 WSB2 55884 broad.mit.edu 37 12 118481162 118481162 + Missense_Mutation SNP G G C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr12:118481162G>C ENST00000315436.3 - 3 344 c.203C>G c.(202-204)gCc>gGc p.A68G WSB2_ENST00000441406.2_Missense_Mutation_p.A85G|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.A70G|WSB2_ENST00000544233.1_Intron NM_001278557.1|NM_018639.3 NP_001265486.1|NP_061109.1 Q9NYS7 WSB2_HUMAN WD repeat and SOCS box containing 2 68 intracellular signal transduction breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCGGCTTTTGGCTTCAAACCC 0.493000 18 560 0 0 1 0 0 EPS8 0 broad.mit.edu 37 12 15807213 15807213 + Silent SNP T T G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr12:15807213T>G ENST00000281172.5 - 13 1552 c.1116A>C c.(1114-1116)acA>acC p.T372T EPS8_ENST00000542903.1_Silent_p.T112T|EPS8_ENST00000543612.1_Silent_p.T372T|EPS8_ENST00000540613.1_Silent_p.T112T|EPS8_ENST00000543523.1_Silent_p.T372T NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 372 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) CAGGACCTCCTGTTGCCTGCA 0.373000 18 307 0 0 1 0 0 FBXL6 26233 broad.mit.edu 37 8 145580308 145580308 + Silent SNP G G A rs148685592 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:145580308G>A ENST00000331890.5 - 6 1009 c.945C>T c.(943-945)ccC>ccT p.P315P FBXL6_ENST00000455319.2_Silent_p.P309P|FBXL6_ENST00000526524.1_5'UTR NM_012162.2 NP_036294.1 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 315 proteolysis ubiquitin-protein ligase activity endometrium(1)|lung(3)|ovary(1) 5 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) GCAGCTGAAGGGGAATGCTAT 0.647000 6 571 0 0 1 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958767 57958767 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr11:57958767G>A ENST00000311591.3 + 1 862 c.805G>A c.(805-807)Gag>Aag p.E269K NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E269K(1) breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) CCAGTCCTCCGAGGGAGACCG 0.552000 80 287 0 0 1 0 0 ZNF117 51351 broad.mit.edu 37 7 64439447 64439447 + Missense_Mutation SNP T T C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:64439447T>C ENST00000282869.5 - 4 1786 c.502A>G c.(502-504)Aaa>Gaa p.K168E NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 168 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) CCACATTCTTTACATTTGTAA 0.363000 8 423 0 0 1 0 0 CCDC41 51134 broad.mit.edu 37 12 94761622 94761622 + Missense_Mutation SNP G G A rs111647062 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr12:94761622G>A ENST00000397809.5 - 11 1840 c.1291C>T c.(1291-1293)Cgg>Tgg p.R431W CCDC41_ENST00000339839.5_Missense_Mutation_p.R431W|CCDC41_ENST00000397807.2_Missense_Mutation_p.R398W NM_016122.2 NP_057206.2 Q9Y592 CCD41_HUMAN coiled-coil domain containing 41 423 breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 TGTGAAGCCCGCAATTTCTCT 0.373000 6 649 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887461 9887461 + Missense_Mutation SNP A A C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr18:9887461A>C ENST00000306084.6 + 2 1184 c.985A>C c.(985-987)Atc>Ctc p.I329L TXNDC2_ENST00000357775.4_Missense_Mutation_p.I262L|TXNDC2_ENST00000536353.2_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 329 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GGAGGGTGACATCCCCAAGTC 0.592000 7 476 0 0 1 0 0 GALNT5 11227 broad.mit.edu 37 2 158157419 158157419 + Missense_Mutation SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:158157419C>G ENST00000259056.4 + 7 2832 c.2347C>G c.(2347-2349)Ctg>Gtg p.L783V GALNT5_ENST00000463418.1_3'UTR NM_014568.1 NP_055383.1 Q7Z7M9 GALT5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) 783 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 56 GCAAAGGGAGCTGCGAAAGAA 0.498000 50 127 0 0 1 0 0 NGF 4803 broad.mit.edu 37 1 115828736 115828736 + Silent SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:115828736C>T ENST00000369512.2 - 3 849 c.681G>A c.(679-681)acG>acA p.T227T RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 227 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) ACACACAGGCCGTATCTATCC 0.587000 14 337 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G T rs28934573 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr17:7577559G>T ENST00000420246.2 - 7 854 c.722C>A c.(721-723)tCc>tAc p.S241Y TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 241 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCCATGCAGGAACTGTTACA 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 74 116 5.6417e-52 5.96409e-52 1 1 0 POTEE 445582 broad.mit.edu 37 2 131984442 131984442 + Missense_Mutation SNP A A C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:131984442A>C ENST00000356920.5 + 4 951 c.857A>C c.(856-858)cAa>cCa p.Q286P POTEE_ENST00000358087.5_Missense_Mutation_p.Q296P|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 286 ATP binding CAAAAACAGCAAGTCGTGAAA 0.328000 40 787 0 0 1 0 0 CYP1A1 1543 broad.mit.edu 37 15 75014944 75014944 + Missense_Mutation SNP C C A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr15:75014944C>A ENST00000379727.3 - 2 693 c.495G>T c.(493-495)aaG>aaT p.K165N CYP1A1_ENST00000395049.4_Missense_Mutation_p.K165N|CYP1A1_ENST00000395048.2_Missense_Mutation_p.K165N|CYP1A1_ENST00000567032.1_Missense_Mutation_p.K165N|CYP1A1_ENST00000564596.1_Intron P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 165 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) CCTCAGCCTCCTTGCTCACAT 0.572000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 124 387 4.9668e-63 5.28079e-63 1 1 0 C16orf45 89927 broad.mit.edu 37 16 15677014 15677014 + Splice_Site SNP G G C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr16:15677014G>C ENST00000300006.4 + 5 780 c.419_splice c.e5-1 p.E141_splice C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000561692.1_Splice_Site_p.E93_splice|C16orf45_ENST00000566490.1_Intron|C16orf45_ENST00000452191.2_Splice_Site_p.E124_splice NM_033201.2 NP_149978.1 Q96MC5 CP045_HUMAN chromosome 16 open reading frame 45 141 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1) 11 CTTTCACAGGGAGCAAGAAGA 0.378000 50 503 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31238853 31238853 + Missense_Mutation SNP C C T rs17849598 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr6:31238853C>T ENST00000383329.3 - 3 630 c.616G>A c.(616-618)Gca>Aca p.A206T HLA-C_ENST00000376228.5_Missense_Mutation_p.A206T Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 206 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CTGGTACCTGCGCGCTGCAGC 0.647000 5 292 0 0 1 0 0 ARHGAP19-SLIT1 0 broad.mit.edu 37 10 99024599 99024599 + Silent SNP A A T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr10:99024599A>T ENST00000453547.2 - 3 386 c.387T>A c.(385-387)atT>atA p.I129I ARHGAP19_ENST00000358531.4_Silent_p.I129I|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.I129I|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.I129I|ARHGAP19_ENST00000355366.5_Silent_p.I120I|ARHGAP19_ENST00000371027.1_Silent_p.I120I GTAGATACTCAATCAGTTGGT 0.368000 68 111 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152275642 152275642 + Missense_Mutation SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:152275642C>T ENST00000368799.1 - 3 11755 c.11720G>A c.(11719-11721)cGc>cAc p.R3907H FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3907 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCTGTATCGCGGTGAGAGGA 0.502000 Ichthyosis 20 283 0 0 1 0 0 ERI1 90459 broad.mit.edu 37 8 8875864 8875864 + Missense_Mutation SNP A A T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:8875864A>T ENST00000523898.1 + 6 1319 c.640A>T c.(640-642)Atg>Ttg p.M214L ERI1_ENST00000519292.1_Missense_Mutation_p.M214L|ERI1_ENST00000250263.7_Missense_Mutation_p.M214L|ERI1_ENST00000520332.1_3'UTR Q8IV48 ERI1_HUMAN exoribonuclease 1 214 Exonuclease. gene silencing by RNA|rRNA 3'-end processing cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus 3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Adenosine monophosphate(DB00131) AATTGACTGGATGAAATTGAA 0.308000 55 179 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51200361 51200361 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr19:51200361G>A ENST00000293441.1 - 14 1974 c.1956C>T c.(1954-1956)ggC>ggT p.G652G SHANK1_ENST00000391814.1_Silent_p.G652G|SHANK1_ENST00000359082.3_Intron NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 652 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) ACCTCCCTGGGCCAATCCCAT 0.647000 6 360 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 5 162 0 0 1 0 0 HLA-V 0 broad.mit.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr6:29761676C>G ENST00000457107.1 + 0 902 gagagggtttcatattcaaga 0.493000 10 61 0 0 1 0 0 SDK2 54549 broad.mit.edu 37 17 71381998 71381998 + Silent SNP T T A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr17:71381998T>A ENST00000392650.3 - 32 4557 c.4557A>T c.(4555-4557)ctA>ctT p.L1519L SDK2_ENST00000388726.3_Silent_p.L1519L NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1519 Fibronectin type-III 10. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GCCATCGGATTAGCACGGAGG 0.647000 23 59 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544867 23544867 + Missense_Mutation SNP T T C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr19:23544867T>C ENST00000300619.7 - 4 1119 c.914A>G c.(913-915)cAt>cGt p.H305R ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 305 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAATGGCTAAAAGC 0.413000 7 543 0 0 1 0 0 GRB14 2888 broad.mit.edu 37 2 165353909 165353909 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:165353909G>A ENST00000263915.3 - 10 1734 c.1196C>T c.(1195-1197)gCg>gTg p.A399V GRB14_ENST00000543549.1_Missense_Mutation_p.A312V NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 399 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 TTCTTCAACCGCAACTGAAAG 0.393000 5 498 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42336630 42336630 + Silent SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr17:42336630C>T ENST00000262418.6 - 9 932 c.777G>A c.(775-777)ccG>ccA p.P259P AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 259 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity p.P259P(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GTATAGGCACCGGCAGCTCCA 0.652000 68 156 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48808480 48808480 + Silent SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:48808480C>T ENST00000309835.3 + 1 718 c.708C>T c.(706-708)ctC>ctT p.L236L STON1_ENST00000406226.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000405008.1_Silent_p.L236L|STON1_ENST00000404752.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000402114.2_Silent_p.L236L|STON1-GTF2A1L_ENST00000394751.3_Silent_p.L236L|STON1-GTF2A1L_ENST00000394754.1_Silent_p.L236L|STON1-GTF2A1L_ENST00000309827.2_Silent_p.L236L stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTGAACATCTCCAGTCAGCTG 0.413000 46 409 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127488461 127488461 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr5:127488461G>A ENST00000262461.2 + 15 2516 c.2327G>A c.(2326-2328)cGt>cAt p.R776H SLC12A2_ENST00000343225.4_Missense_Mutation_p.R776H NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 776 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) CATTCAATTCGTCTTTCTGGA 0.413000 93 290 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 18 208 0 0 1 0 0 TMEM168 64418 broad.mit.edu 37 7 112407372 112407372 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:112407372G>A ENST00000312814.5 - 5 2534 c.1974C>T c.(1972-1974)tgC>tgT p.C658C TMEM168_ENST00000454074.1_Silent_p.C658C NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 658 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 GGTTCAGACCGCATAACCAAT 0.433000 6 279 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81232548 81232548 + Missense_Mutation SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr16:81232548C>G ENST00000599697.1 - 7 1261 c.1262G>C c.(1261-1263)gGg>gCg p.G421A PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 421 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GCGGTGCCTCCCAGGGCCCAT 0.567000 121 420 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887282 12887282 + Missense_Mutation SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:12887282C>T ENST00000535591.1 - 3 770 c.575G>A c.(574-576)aGg>aAg p.R192K NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 192 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 CTGAAGATTCCTCAAGTGGCC 0.498000 408 472 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82453016 82453016 + Silent SNP T T C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:82453016T>C ENST00000370715.1 + 20 3717 c.3501T>C c.(3499-3501)taT>taC p.Y1167Y LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000370725.1_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370717.2_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000370728.1_Intron|LPHN2_ENST00000370723.1_Intron O95490 LPHN2_HUMAN latrophilin 2 0 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AAGATTTATATCATTTAGAGG 0.303000 49 134 0 0 1 0 0 PSMB11 122706 broad.mit.edu 37 14 23511502 23511502 + Missense_Mutation SNP G G C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr14:23511502G>C ENST00000408907.2 + 1 127 c.68G>C c.(67-69)cGg>cCg p.R23P NM_001099780.1 NP_001093250.1 A5LHX3 PSB11_HUMAN proteasome (prosome, macropain) subunit, beta type, 11 23 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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(1)|kidney(2)|lung(4) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00643) CACCTGCCTCGGGCTGGCGGC 0.637000 9 492 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518053 113518053 + Missense_Mutation SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:113518053C>G ENST00000284601.3 - 4 3162 c.3094G>C c.(3094-3096)Gta>Cta p.V1032L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 1032 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CCAGAGCTTACTAATCCTTCA 0.403000 163 484 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 5 106 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24582552 24582552 + Nonsense_Mutation SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr6:24582552C>T ENST00000535378.1 - 7 1731 c.1089G>A c.(1087-1089)tgG>tgA p.W363* KIAA0319_ENST00000378214.3_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.W327*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.W372*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.W372* NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 372 PKD 1. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TTATTAAATTCCATTCATAGT 0.388000 134 352 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 7 590 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 7 774 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 10 687 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178585787 178585787 + Missense_Mutation SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr5:178585787C>T ENST00000251582.7 - 6 1170 c.1069G>A c.(1069-1071)Gat>Aat p.D357N ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D357N NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 357 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TGGTATTCATCGTGGCCCGTG 0.612000 101 268 0 0 1 0 0 PCDHGB7 0 broad.mit.edu 37 5 140799066 140799066 + Missense_Mutation SNP G G C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr5:140799066G>C ENST00000398594.2 + 1 1640 c.1640G>C c.(1639-1641)aGc>aCc p.S547T PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAATGTGAGCCTGCGCGTG 0.711000 58 166 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156777073 156777073 + Missense_Mutation SNP T T G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:156777073T>G ENST00000392306.2 - 8 1236 c.1097A>C c.(1096-1098)cAc>cCc p.H366P SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 356 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGGGGCTGGTGGGGCAGGGG 0.597000 4 41 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 7 433 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187443 12187443 + Missense_Mutation SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr19:12187443C>G ENST00000439326.3 + 4 1683 c.1508C>G c.(1507-1509)cCt>cGt p.P503R ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P503R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCCTATGAGTGTA 0.413000 7 235 0 0 1 0 0 CDR2 1039 broad.mit.edu 37 16 22385600 22385600 + Missense_Mutation SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr16:22385600C>G ENST00000268383.2 - 1 338 c.31G>C c.(31-33)Gag>Cag p.E11Q CDR2_ENST00000569045.1_Intron NM_001802.1 NP_001793.1 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2, 62kDa 11 nucleus protein binding endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(48;0.0188) TCCTTCATCTCAAACTCCTCT 0.736000 105 321 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 5 218 0 0 1 0 0 PTDSS1 9791 broad.mit.edu 37 8 97342493 97342493 + Missense_Mutation SNP A A G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:97342493A>G ENST00000517309.1 + 11 1552 c.1226A>G c.(1225-1227)tAt>tGt p.Y409C PTDSS1_ENST00000455950.2_Missense_Mutation_p.Y263C|PTDSS1_ENST00000522072.1_Missense_Mutation_p.Y206C NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 409 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) GCAGAACACTATGGTCACCGA 0.463000 51 239 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276406 186276406 + Missense_Mutation SNP C C A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:186276406C>A ENST00000445192.2 + 7 1600 c.1555C>A c.(1555-1557)Ccc>Acc p.P519T PRG4_ENST00000367485.4_Missense_Mutation_p.P426T|PRG4_ENST00000367483.4_Missense_Mutation_p.P478T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.P476T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 519 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACTCCCAAGGAGCC 0.642000 7 655 0.38729 0.38729 1 1 0 NRD1 4898 broad.mit.edu 37 1 52272573 52272573 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:52272573G>A ENST00000354831.7 - 20 2396 c.2207C>T c.(2206-2208)aCg>aTg p.T736M NRD1_ENST00000352171.7_Missense_Mutation_p.T668M|NRD1_ENST00000544028.1_Missense_Mutation_p.T536M|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M|NRD1_ENST00000485608.1_5'UTR NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 667 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 AGCCTTCAACGTAAAGTCCGT 0.373000 5 449 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881302 33881302 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr5:33881302G>A ENST00000504830.1 - 2 746 c.411C>T c.(409-411)ccC>ccT p.P137P ADAMTS12_ENST00000515401.1_Silent_p.P137P|ADAMTS12_ENST00000352040.3_Silent_p.P137P NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 137 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GATGGCAGAGGGGGGCAGAGG 0.532000 HNSCC(64;0.19) 5 225 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 56 151 0 0 1 0 0 CREB5 9586 broad.mit.edu 37 7 28610110 28610110 + Missense_Mutation SNP C C A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:28610110C>A ENST00000357727.2 + 5 809 c.419C>A c.(418-420)tCc>tAc p.S140Y CREB5_ENST00000396300.2_Missense_Mutation_p.S133Y|CREB5_ENST00000409603.1_Missense_Mutation_p.S107Y|CREB5_ENST00000396299.2_Missense_Mutation_p.S107Y NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 140 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 TCGCCTCAGTCCAGCTCTGTC 0.622000 77 215 7.63117e-38 8.0214e-38 1 1 0 DNMT3A 1788 broad.mit.edu 37 2 25468126 25468126 + Missense_Mutation SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:25468126C>G ENST00000264709.3 - 13 1887 c.1550G>C c.(1549-1551)tGc>tCc p.C517S DNMT3A_ENST00000402667.1_Missense_Mutation_p.C294S|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C328S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.C517S NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 517 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCTACCTTGCAGTTTTGGCA 0.597000 """Mis, F, N, S""" AML 29 87 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 19 299 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 8 1100 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37022228 37022228 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr5:37022228G>A ENST00000282516.8 + 28 5903 c.5404G>A c.(5404-5406)Gta>Ata p.V1802I NIPBL_ENST00000448238.2_Missense_Mutation_p.V1802I NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1802 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GGTTGTTGCTGTAGACCCCAG 0.358000 5 211 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3649855 3649855 + Silent SNP C C A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr12:3649855C>A ENST00000382622.3 + 2 549 c.159C>A c.(157-159)ccC>ccA p.P53P PRMT8_ENST00000452611.2_Silent_p.P44P|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 53 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CCACTCAACCCAGCTGCCCAG 0.602000 251 647 7.11239e-98 7.6947e-98 1 1 0 SEMA3G 56920 broad.mit.edu 37 3 52471991 52471991 + Missense_Mutation SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr3:52471991C>G ENST00000231721.2 - 14 1733 c.1734G>C c.(1732-1734)caG>caC p.Q578H NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 578 Ig-like C2-type. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) ACTCACCTTCCTGGCTCTGGC 0.672000 4 115 0 0 1 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35131548 35131548 + RNA SNP G G A rs144021252 by1000genomes TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:35131548G>A ENST00000436258.1 - 0 1821 TGGCACCTGCGAAGACAGCAT 0.388000 5 248 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282178 152282178 + Missense_Mutation SNP C C A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:152282178C>A ENST00000368799.1 - 3 5219 c.5184G>T c.(5182-5184)gaG>gaT p.E1728D FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1728 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGTGTCTGACTCTTCTGAGT 0.597000 Ichthyosis 345 891 2.13307e-120 2.32128e-120 1 1 0 WDR33 55339 broad.mit.edu 37 2 128471486 128471486 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:128471486G>A ENST00000322313.4 - 18 3137 c.2979C>T c.(2977-2979)ggC>ggT p.G993G NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 993 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TGCAGTCCTGGCCACCCCGGA 0.662000 18 545 0 0 1 0 0 XPC 7508 broad.mit.edu 37 3 14209834 14209834 + Silent SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr3:14209834G>A ENST00000285021.7 - 4 673 c.459C>T c.(457-459)ttC>ttT p.F153F XPC_ENST00000449060.2_Intron NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 153 Glu-rich (acidic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAGATCGAGAGAAGGCTGTAC 0.418000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 46 158 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 476656 476656 + Splice_Site SNP A A G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr5:476656A>G ENST00000264938.3 - 12 1900 c.e12+1 SLC9A3_ENST00000514375.1_Splice_Site|CTD-2228K2.7_ENST00000607286.1_RNA NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CGCAGTGCCCACCTCCTGCCG 0.701000 7 133 0 0 1 0 0 PANX1 24145 broad.mit.edu 37 11 93911725 93911725 + Missense_Mutation SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr11:93911725C>T ENST00000227638.3 + 3 897 c.512C>T c.(511-513)tCa>tTa p.S171L PANX1_ENST00000436171.2_Missense_Mutation_p.S171L NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 171 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GGAGCCTGCTCAGTTCCAGGT 0.483000 86 289 0 0 1 0 0 SLC15A1 6564 broad.mit.edu 37 13 99339977 99339977 + Splice_Site SNP T T C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr13:99339977T>C ENST00000376503.5 - 21 1740 c.1683_splice c.e21-1 p.N562_splice NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 562 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) GCAGCTGTCATTCTGCAGCAG 0.408000 85 142 0 0 1 0 0 XCL2 6846 broad.mit.edu 37 1 168510202 168510202 + Silent SNP G G A rs149372418 byFrequency TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:168510202G>A ENST00000367819.2 - 3 365 c.333C>T c.(331-333)acC>acT p.T111T NM_003175.3 NP_003166.1 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 111 blood circulation|chemotaxis|immune response|signal transduction extracellular space chemokine activity p.T111T(1) large_intestine(1)|lung(6)|ovary(1) 8 all_hematologic(923;0.215) AGCCAGTCAGGGTCACAGCTG 0.498000 8 267 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95515048 95515048 + RNA SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:95515048C>T ENST00000432432.2 - 0 609 NR_040113.1 TGGGGTATTACTGTCCTACAA 0.323000 7 768 0 0 1 0 0 ZNF117 51351 broad.mit.edu 37 7 64439379 64439379 + Silent SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:64439379C>T ENST00000282869.5 - 4 1854 c.570G>A c.(568-570)gaG>gaA p.E190E NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 190 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) TGTAGGGTTTCTCTTCAGTAT 0.368000 13 444 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91450665 91450665 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr15:91450665G>A ENST00000360468.3 + 7 1154 c.1136G>A c.(1135-1137)cGc>cAc p.R379H MAN2A2_ENST00000431652.2_5'UTR|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R379H NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 379 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CCTGGTGGGCGCATCAACTGC 0.567000 6 566 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113179511 113179511 + Missense_Mutation SNP T T C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr3:113179511T>C ENST00000295872.4 - 12 1647 c.1388A>G c.(1387-1389)cAg>cGg p.Q463R NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 463 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 TTCTGATGCCTGAATTTCTTG 0.433000 6 502 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262090 45262090 + Missense_Mutation SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr5:45262090C>T ENST00000303230.4 - 8 2663 c.2606G>A c.(2605-2607)aGa>aAa p.R869K NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 869 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GGAAGATTCTCTTGGAAGAGC 0.537000 171 391 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72289039 72289039 + Nonsense_Mutation SNP C C A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr10:72289039C>A ENST00000263563.6 + 3 508 c.240C>A c.(238-240)taC>taA p.Y80* NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 AGGCTCATTACACGTTGGGCC 0.612000 28 90 1.61788e-16 1.67211e-16 1 1 0 DENND2D 79961 broad.mit.edu 37 1 111730759 111730759 + Missense_Mutation SNP G G C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:111730759G>C ENST00000357640.4 - 11 1562 c.1333C>G c.(1333-1335)Cct>Gct p.P445A DENND2D_ENST00000369752.5_Missense_Mutation_p.P442A NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 445 breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) GTACCTGCAGGAGGATTCTTG 0.468000 9 302 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99913460 99913460 + Silent SNP A A G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:99913460A>G ENST00000332397.6 + 7 1438 c.1254A>G c.(1252-1254)tcA>tcG p.S418S SPDYE3_ENST00000437326.2_Silent_p.S41S NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 418 p.S418S(11) endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 TGAGGGTGTCAGACAAGGTAA 0.522000 12 1125 0 0 1 0 0 ATAD2B 54454 broad.mit.edu 37 2 24051724 24051724 + Missense_Mutation SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:24051724C>T ENST00000238789.5 - 15 2157 c.1814G>A c.(1813-1815)tGt>tAt p.C605Y ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 605 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCACCAACACATTTTTCAGC 0.368000 62 150 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30955025 30955025 + Missense_Mutation SNP G G A rs55763085 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr6:30955025G>A ENST00000376296.3 + 2 1314 c.1073G>A c.(1072-1074)aGc>aAc p.S358N MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 358 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane p.S358N(1) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGTGGGGCCAGCACAGCCACC 0.642000 7 696 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123834971 123834971 + Silent SNP T T C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr12:123834971T>C ENST00000420886.2 - 1 17 c.18A>G c.(16-18)caA>caG p.Q6Q SBNO1_ENST00000602750.1_Silent_p.Q6Q|SBNO1_ENST00000267176.4_Silent_p.Q6Q|SBNO1_ENST00000602398.1_Silent_p.Q6Q NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 6 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) GCAGTAAATCTTGCCCTGGCT 0.383000 6 1123 0 0 1 0 0 NPIPB6 728741 broad.mit.edu 37 16 28354087 28354087 + Silent SNP T T C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr16:28354087T>C ENST00000532254.1 - 7 1804 c.1119A>G c.(1117-1119)aaA>aaG p.K373K NPIPB6_ENST00000533640.1_Silent_p.K355K nuclear pore complex interacting protein family, member B6 GCCTCTTGGGTTTCGGTGATT 0.562000 4 31 0 0 1 0 0 HAGH 3029 broad.mit.edu 37 16 1869148 1869148 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr16:1869148G>A ENST00000397356.3 - 5 915 c.509C>T c.(508-510)cCc>cTc p.P170L HAGH_ENST00000566709.1_Missense_Mutation_p.P122L|HAGH_ENST00000397353.2_Missense_Mutation_p.P122L|HAGH_ENST00000455446.2_Intron NM_005326.4 NP_005317.2 Q16775 GLO2_HUMAN hydroxyacylglutathione hydrolase 170 glutathione biosynthetic process cytoplasm|mitochondrial matrix hydroxyacylglutathione hydrolase activity|zinc ion binding kidney(2)|lung(1)|ovary(1)|skin(1) 5 Hepatocellular(780;0.00335) Glutathione(DB00143) CGAGCCTCCGGGCTTGCTCAC 0.627000 36 80 0 0 1 0 0 OXR1 55074 broad.mit.edu 37 8 107705020 107705020 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:107705020G>A ENST00000445937.1 + 7 851 c.590G>A c.(589-591)cGa>cAa p.R197Q OXR1_ENST00000442977.2_Missense_Mutation_p.R198Q|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Missense_Mutation_p.R130Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R197Q|OXR1_ENST00000312046.6_Missense_Mutation_p.R190Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R197Q NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 198 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) CGACCTGCACGAGTTGTATCT 0.348000 89 336 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 7 415 0 0 1 0 0 PRM1 5619 broad.mit.edu 37 16 11374992 11374992 + Missense_Mutation SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr16:11374992C>G ENST00000312511.3 - 1 215 c.104G>C c.(103-105)aGa>aCa p.R35T RMI2_ENST00000572173.1_Intron NM_002761.2 NP_002752.1 P04553 HSP1_HUMAN protamine 1 35 chromosome condensation|multicellular organismal development nucleoplasm|nucleosome DNA binding p.0?(1) large_intestine(2)|skin(2) 4 ACTCATGGCTCTCCTCCGTGT 0.617000 7 480 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65425585 65425585 + Silent SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr3:65425585C>T ENST00000330909.8 - 9 1238 c.1239G>A c.(1237-1239)caG>caA p.Q413Q MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 413 Poly-Gln. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) gctgctgctgctgctgttgct 0.537000 OREG0015658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 375 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276240 186276240 + Silent SNP T T C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:186276240T>C ENST00000445192.2 + 7 1434 c.1389T>C c.(1387-1389)acT>acC p.T463T PRG4_ENST00000367485.4_Silent_p.T370T|PRG4_ENST00000367483.4_Silent_p.T422T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T420T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 463 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T463T(3) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.657000 10 603 0 0 1 0 0 RPL12P38 0 broad.mit.edu 37 17 58511366 58511366 + RNA SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr17:58511366C>T ENST00000588627.1 - 0 1991 GAAGGCACCACCTCAATCTGG 0.473000 42 120 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43318571 43318571 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr10:43318571G>A ENST00000374518.4 + 20 3201 c.3138G>A c.(3136-3138)atG>atA p.M1046I NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1046 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.M1046I(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGTAGGGAATGTTTAATTCTG 0.393000 6 541 0 0 1 0 0 PNMA5 114824 broad.mit.edu 37 X 152159333 152159333 + Silent SNP C C G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chrX:152159333C>G ENST00000439251.1 - 2 1248 c.810G>C c.(808-810)ctG>ctC p.L270L PNMA5_ENST00000452693.1_Silent_p.L270L|PNMA5_ENST00000361887.5_Silent_p.L270L|PNMA5_ENST00000535214.1_Silent_p.L270L NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 270 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) CGGCTTTCTGCAGCAGGGGCT 0.542000 47 218 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412288 139412288 + Missense_Mutation SNP C C T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr9:139412288C>T ENST00000277541.6 - 8 1432 c.1357G>A c.(1357-1359)Gtc>Atc p.V453I NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 453 EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CACTCGTTGACGTCGATCTCG 0.657000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 73 235 0 0 1 0 0 PFAS 5198 broad.mit.edu 37 17 8170106 8170106 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr17:8170106G>A ENST00000314666.6 + 23 2990 c.2857G>A c.(2857-2859)Gtg>Atg p.V953M PFAS_ENST00000545834.1_Missense_Mutation_p.V529M NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 953 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCCAGGCCTCGTGCTGGAGGT 0.662000 69 109 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16882333 16882333 + Missense_Mutation SNP G G A rs150358307 byFrequency TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr10:16882333G>A ENST00000377833.4 - 62 10093 c.10028C>T c.(10027-10029)cCg>cTg p.P3343L NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3343 CUB 25. 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) TGTTACCTGCGGTGAGTCCTG 0.423000 56 169 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 5 592 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684253 100684253 + Missense_Mutation SNP G G A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:100684253G>A ENST00000306151.4 + 3 9620 c.9556G>A c.(9556-9558)Gca>Aca p.A3186T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3186 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCCTTTCAGCAACTCCTGT 0.483000 8 1358 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 7 372 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 7 304 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 11 899 --- --- --- --- MED8 112950 broad.mit.edu 37 1 43850143 43850143 + Frame_Shift_Del DEL T T - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:43850143delT ENST00000290663.6 - 8 927 c.884delA c.(883-885)atfs p.N295fs MED8_ENST00000372457.4_3'UTR NM_052877.3 NP_443109.2 Q96G25 MED8_HUMAN mediator complex subunit 8 0 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 9 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CAGGTGGGCATTTTTTTTTCC 0.512 7 112 --- --- --- --- B4GALT2 8704 broad.mit.edu 37 1 44447007 44447009 + In_Frame_Del DEL AGC AGC - rs72406230 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:44447007_44447009delAGC ENST00000356836.6 + 2 965_967 c.175_177delAGC c.(175-177)del p.S65del B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 65 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CCCAGCTGCTagcagcagcagca 0.685 7 326 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47310359 47310360 + RNA INS - - T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:47310359_47310360insT ENST00000505841.1 - 0 1269 NR_002788.2 CAAAAACAAAACCCTAGATATT 0.421 7 52 --- --- --- --- EPS8L3 79574 broad.mit.edu 37 1 110300579 110300580 + Frame_Shift_Ins INS - - T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:110300579_110300580insT ENST00000369805.3 - 9 1050_1051 c.821_822insA c.(820-822)aaafs p.K274fs EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 273 cytoplasm protein binding p.N274fs*33(2) breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CCTGGTCCTTGTTTTTTTTCCC 0.545 8 615 --- --- --- --- ISG20L2 81875 broad.mit.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr1:156694023delG ENST00000313146.6 - 2 1647 c.865delC c.(865-867)tcfs p.L289fs ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCGGTTGAGGGGGGGGATA 0.557 7 426 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 7 870 --- --- --- --- BCL11A 53335 broad.mit.edu 37 2 60689253 60689254 + Frame_Shift_Ins INS - - G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:60689253_60689254insG ENST00000335712.6 - 4 1020_1021 c.793_794insC c.(793-795)gttfs p.V265fs BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.V231fs|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.V265fs|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.V231fs NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 265 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGGACTAAACAGGGGGGGAGTG 0.584 T IGH@ B-CLL 8 241 --- --- --- --- FER1L5 90342 broad.mit.edu 37 2 97365699 97365721 + RNA DEL GCCCCCAAGCTACCTCCTAGAAC GCCCCCAAGCTACCTCCTAGAAC - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:97365699_97365721delGCCCCCAAGCTACCTCCTAGAAC ENST00000457909.1 + 0 4315_4337 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 GGGATCAGATGCCCCCAAGCTACCTCCTAGAACGCTATGCCAA 0.529 23 342 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 10 20 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del|TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 7 104 --- --- --- --- VIL1 7429 broad.mit.edu 37 2 219301231 219301231 + Frame_Shift_Del DEL C C - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr2:219301231delC ENST00000248444.5 + 16 1941 c.1853delC c.(1852-1854)acfs p.T618fs VIL1_ENST00000392114.2_Frame_Shift_Del_p.T307fs NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 618 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGGTCATCACCCCCCGGCTC 0.502 7 1126 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - - C TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr3:42679035_42679036insC ENST00000232978.8 + 13 2027_2028 c.1839_1840insC c.(1837-1842)agccccfs p.SP613fs RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 613 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) TGAGTGACAGTCCCCCCCCTTC 0.421 13 1031 --- --- --- --- WWTR1 25937 broad.mit.edu 37 3 149260194 149260196 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr3:149260194_149260196delCTG ENST00000465804.1 - 5 953_955 c.697_699delCAG c.(697-699)del p.Q233del WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 233 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCGCAGTTTCTGCTGCTGCTGC 0.581 T CAMTA1 epitheliod hemangioendothelioma 7 341 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 13 520 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 421 actomyosin structure organization actin binding|zinc ion binding p.E810fs*3(1)|p.E425fs*3(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TTAGAGAGCGGAGAGAGAGAGA 0.465 14 575 --- --- --- --- UTP3 57050 broad.mit.edu 37 4 71554620 71554622 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr4:71554620_71554622delGAG ENST00000254803.2 + 1 425_427 c.226_228delGAG c.(226-228)del p.E81del NM_020368.2 NP_065101.1 Q9NQZ2 SAS10_HUMAN UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) 81 Glu-rich. brain development|chromatin modification|gene silencing nucleolus endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4) 18 Lung(101;0.235) ggaggatggcgaggaggaggagg 0.567 10 154 --- --- --- --- FAM198B 51313 broad.mit.edu 37 4 159091487 159091489 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr4:159091487_159091489delGCT ENST00000393807.5 - 3 1327_1329 c.921_923delAGC c.(919-924)gcg>gc p.AA307del FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000585682.1_Intron NM_001031700.2 NP_001026870.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 307 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 GGAAAGACACGCTGCTGCTGCTG 0.458 7 268 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190878555 190878556 + Frame_Shift_Ins INS - - A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr4:190878555_190878556insA ENST00000226798.4 + 6 657_658 c.435_436insA c.(433-438)ggaaatfs p.N146fs FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 146 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TCACTTAGGGGAAAATGGCTTT 0.351 9 141 --- --- --- --- SLC6A3 6531 broad.mit.edu 37 5 1432653 1432653 + Frame_Shift_Del DEL A A - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr5:1432653delA ENST00000270349.9 - 4 706 c.579delT c.(577-579)cafs p.H193fs SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.H193fs NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 193 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AGTCACCAGGATGGGCATCCG 0.597 74 367 --- --- --- --- HMMR 3161 broad.mit.edu 37 5 162917425 162917426 + Frame_Shift_Ins INS - - A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr5:162917425_162917426insA ENST00000416990.2 + 17 2144_2145 c.1647_1648insA c.(1645-1650)gcaaaafs p.AK549fs RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 663 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) GTCAGCTTGCTAAAAAAAAACA 0.307 13 487 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr6:30570264_30570266delGGA ENST00000376511.2 - 19 2712_2714 c.2160_2162delTCC c.(2158-2163)cca>cc p.PP720del NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 720 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCCTCGGAATggaggaggaggag 0.670 8 277 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 7 484 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 9 324 --- --- --- --- SESN1 27244 broad.mit.edu 37 6 109309803 109309828 + Frame_Shift_Del DEL TTCAGGAGTGCAAACAACAGTTTTGA TTCAGGAGTGCAAACAACAGTTTTGA - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr6:109309803_109309828delTTCAGGAGTGCAAACAACAGTTTTGA ENST00000436639.2 - 9 2232_2257 c.1487_1512delTCAAAACTGTTGTTTGCACTCCTGAA c.(1486-1512)afs p.IKTVVCTPE496fs SESN1_ENST00000356644.7_Frame_Shift_Del_p.IKTVVCTPE437fs|SESN1_ENST00000302071.2_Frame_Shift_Del_p.IKTVVCTPE371fs NM_014454.2 NP_055269.1 Q9Y6P5 SESN1_HUMAN sestrin 1 437 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus p.E504Q(1) cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) TGGTAACCTTTTCAGGAGTGCAAACAACAGTTTTGATATAAACTTT 0.341 16 85 --- --- --- --- STX1A 6804 broad.mit.edu 37 7 73123425 73123427 + In_Frame_Del DEL CAT CAT - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:73123425_73123427delCAT ENST00000222812.3 - 2 82_84 c.56_58delATG c.(55-60)gtc>g p.DV19del STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 19 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GTGACAGCGACATCATCATCATC 0.586 7 706 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97820131 97820132 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:97820131_97820132delAG ENST00000297293.5 + 10 1383_1384 c.1090_1091delAG c.(1090-1092)afs p.R364fs NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 364 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCAAGTCATTAGAGAGAGAGAC 0.495 8 1875 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100283635 100283637 + In_Frame_Del DEL TCC TCC - rs142340746 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:100283635_100283637delTCC ENST00000275732.5 - 9 2223_2225 c.1014_1016delGGA c.(1012-1017)gaa>ga p.EE338del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 338 Poly-Glu. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TTCGGAAGGTTCCTCCTCCTCCT 0.675 7 291 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100385562 100385596 + RNA DEL GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT - rs68029369 by1000genomes TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:100385562_100385596delGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT ENST00000542585.1 + 0 7176_7210 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACATTTGACGGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATGTTCTGATCA 0.583 25 160 --- --- --- --- WNT2 7472 broad.mit.edu 37 7 116955171 116955175 + Frame_Shift_Del DEL TCCTT TCCTT - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:116955171_116955175delTCCTT ENST00000265441.3 - 3 837_841 c.538_542delAAGGA c.(538-543)tfs p.KD180fs AC002465.2_ENST00000436097.1_RNA NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 180 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GGCTCTGGCAtcctttcctttcctt 0.463 7 539 --- --- --- --- C7orf55-LUC7L2 0 broad.mit.edu 37 7 139094365 139094366 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:139094365_139094366delAG ENST00000354926.4 + 7 1098_1099 c.744_745delAG c.(742-747)gaagfs p.EE248fs C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs NM_016019.3 NP_057103.2 AACGAAGAGAAGAGAGAGAGAG 0.391 8 90 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 11 59 --- --- --- --- EPHB6 0 broad.mit.edu 37 7 142562309 142562309 + Frame_Shift_Del DEL G G - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr7:142562309delG ENST00000392957.2 + 7 1538 c.751delG c.(751-753)ggfs p.G252fs EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 252 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CAGTGGGGCTGGGGGGGCCTC 0.682 8 674 --- --- --- --- MTMR9 66036 broad.mit.edu 37 8 11162509 11162509 + Frame_Shift_Del DEL A A - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:11162509delA ENST00000221086.3 + 4 1050 c.577delA c.(577-579)aafs p.K194fs MTMR9_ENST00000526292.1_Frame_Shift_Del_p.K109fs NM_015458.3 NP_056273.2 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 194 Myotubularin phosphatase. K -> R (in Ref. 2; BAA91170). cytoplasm phosphatase activity|protein binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 16 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) CTATTACCACAAAAAAAATGG 0.453 7 258 --- --- --- --- FGFR1 2260 broad.mit.edu 37 8 38285914 38285916 + In_Frame_Del DEL TCA TCA - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:38285914_38285916delTCA ENST00000447712.2 - 4 1337_1339 c.396_398delTGA c.(394-399)gac>ga p.DD132del FGFR1_ENST00000532791.1_In_Frame_Del_p.DD132del|FGFR1_ENST00000425967.3_In_Frame_Del_p.DD165del|FGFR1_ENST00000397091.5_In_Frame_Del_p.DD132del|FGFR1_ENST00000397103.1_In_Frame_Del_p.DD43del|FGFR1_ENST00000397108.4_In_Frame_Del_p.DD132del|FGFR1_ENST00000397113.2_In_Frame_Del_p.DD132del|FGFR1_ENST00000356207.5_In_Frame_Del_p.DD43del|FGFR1_ENST00000341462.5_In_Frame_Del_p.DD135del|FGFR1_ENST00000335922.5_In_Frame_Del_p.DD124del|FGFR1_ENST00000326324.6_In_Frame_Del_p.DD43del NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 132 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity p.D133N(3)|p.D44N(1) FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TGAAGAGGAGtcatcatcatcat 0.498 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 8 161 --- --- --- --- MYBL1 4603 broad.mit.edu 37 8 67488452 67488453 + Frame_Shift_Ins INS - - T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:67488452_67488453insT ENST00000522677.3 - 10 1669_1670 c.1259_1260insA c.(1258-1260)aacfs p.N420fs MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs|MYBL1_ENST00000517885.1_Intron NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 420 Negative regulatory domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) CATTACAAGTGTTTTTTTTCCC 0.406 9 992 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 7 277 --- --- --- --- DPYS 1807 broad.mit.edu 37 8 105440214 105440214 + Frame_Shift_Del DEL T T - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:105440214delT ENST00000351513.2 - 6 1218 c.1086delA c.(1084-1086)aafs p.K362fs NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 362 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCACCACGCCTTTTTCCCATA 0.478 9 1306 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 9 416 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 7 275 --- --- --- --- SLC45A4 57210 broad.mit.edu 37 8 142228490 142228492 + In_Frame_Del DEL GCC GCC - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr8:142228490_142228492delGCC ENST00000519067.1 - 4 1397_1399 c.1094_1096delGGC c.(1093-1098)cac>c p.RH365del SLC45A4_ENST00000024061.3_In_Frame_Del_p.RH365del|SLC45A4_ENST00000433583.2_In_Frame_Del_p.RH358del|SLC45A4_ENST00000517878.1_In_Frame_Del_p.RH416del Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 416 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CGGAACGCGTGCCGCCGCCGCCG 0.675 7 455 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 8 60 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 7 307 --- --- --- --- ATRNL1 26033 broad.mit.edu 37 10 117221467 117221474 + Frame_Shift_Del DEL TTATCAAT TTATCAAT - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr10:117221467_117221474delTTATCAAT ENST00000355044.3 + 22 3465_3472 c.3339_3346delTTATCAAT c.(3337-3348)gattfs p.DYQF1113fs ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Frame_Shift_Del_p.DYQF164fs NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1113 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TTTTGATTGATTATCAATTTACCTTCAG 0.322 50 256 --- --- --- --- POLD3 10714 broad.mit.edu 37 11 74336608 74336609 + Frame_Shift_Ins INS - - A TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr11:74336608_74336609insA ENST00000263681.2 + 8 1018_1019 c.889_890insA c.(889-891)aaafs p.K297fs POLD3_ENST00000527458.1_Frame_Shift_Ins_p.K258fs|POLD3_ENST00000532497.1_Frame_Shift_Ins_p.K191fs NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 297 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) GCTGCAGAAGGAAAAAAAAAGG 0.460 8 251 --- --- --- --- RP11-507B12.2 0 broad.mit.edu 37 15 61690652 61690654 + RNA DEL GAA GAA - rs67811320 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr15:61690652_61690654delGAA ENST00000559783.1 - 0 236 gtttgaggaggaagaagaagttg 0.473 2 4 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64972995 64972997 + In_Frame_Del DEL CAC CAC - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr15:64972995_64972997delCAC ENST00000326648.3 + 7 4224_4226 c.4096_4098delCAC c.(4096-4098)del p.H1371del NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1371 Poly-His. nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GATGTCCACACACCACCACCACC 0.591 7 822 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - rs141710149 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr15:74888025_74888027delCAG ENST00000346246.5 + 9 1824_1826 c.1593_1595delCAG c.(1591-1596)gcc>gc p.AS531del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 532 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 gcagcagcgccagcagcagcagc 0.640 7 222 --- --- --- --- FAH 2184 broad.mit.edu 37 15 80464493 80464493 + Frame_Shift_Del DEL T T - rs76497285 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr15:80464493delT ENST00000539156.1 + 7 2637 c.399delT c.(397-399)gcfs p.A133fs FAH_ENST00000561421.1_Frame_Shift_Del_p.A203fs|FAH_ENST00000407106.1_Frame_Shift_Del_p.A203fs|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Frame_Shift_Del_p.A203fs P16930 FAAA_HUMAN fumarylacetoacetate hydrolase (fumarylacetoacetase) 203 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CATGTAAGGCTTTTTTTGTAG 0.498 Tyrosinemia, type 1 8 883 --- --- --- --- BLM 641 broad.mit.edu 37 15 91304286 91304288 + In_Frame_Del DEL TGA TGA - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr15:91304286_91304288delTGA ENST00000355112.3 + 7 1801_1803 c.1683_1685delTGA c.(1681-1686)ttt>tt p.FD561del BLM_ENST00000560509.1_In_Frame_Del_p.FD561del NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 561 Poly-Asp. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TAGATGACTTTGATGATGATGAT 0.374 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 7 711 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93482887 93482889 + In_Frame_Del DEL GAT GAT - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr15:93482887_93482889delGAT ENST00000394196.4 + 7 1699_1701 c.631_633delGAT c.(631-633)del p.D215del CHD2_ENST00000536619.1_In_Frame_Del_p.D228del|CHD2_ENST00000557381.1_In_Frame_Del_p.D215del|CHD2_ENST00000420239.2_In_Frame_Del_p.D215del NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 215 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TTCTGATGAGGATGATGATGATG 0.438 7 811 --- --- --- --- SRRM2 23524 broad.mit.edu 37 16 2819210 2819211 + Frame_Shift_Ins INS - - T TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr16:2819210_2819211insT ENST00000301740.8 + 12 8495_8496 c.7946_7947insT c.(7945-7947)ctcfs p.L2649fs SRRM2_ENST00000574593.1_3'UTR NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2649 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 tcttcctccccttccCCTGCTA 0.584 7 723 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 16 1185 --- --- --- --- ABCC6 368 broad.mit.edu 37 16 16284067 16284068 + Frame_Shift_Ins INS - - GG TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr16:16284067_16284068insGG ENST00000205557.7 - 12 1617_1618 c.1588_1589insCC c.(1588-1590)cctfs p.P530fs ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 530 ABC transmembrane type-1 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) AGAGAAGAGGAGGCCGGAGGTC 0.594 87 358 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 8 236 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 9 302 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7801857 7801859 + In_Frame_Del DEL AAG AAG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr17:7801857_7801859delAAG ENST00000380358.4 + 13 2273_2275 c.2272_2274delAAG c.(2272-2274)del p.K762del CHD3_ENST00000330494.7_In_Frame_Del_p.K703del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 703 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CCGCAAGTATAAGAAGAAGAAGA 0.488 7 212 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8409750 8409751 + Frame_Shift_Ins INS - - G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr17:8409750_8409751insG ENST00000360416.3 - 27 3409_3410 c.3271_3272insC c.(3271-3273)cgafs p.R1091fs MYH10_ENST00000379980.4_Frame_Shift_Ins_p.R1076fs|MYH10_ENST00000396239.1_Frame_Shift_Ins_p.R1081fs|MYH10_ENST00000269243.4_Frame_Shift_Ins_p.R1060fs NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1060 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CTCCCCGTCGAGTTTTCTTTTG 0.515 7 395 --- --- --- --- LGALS9B 284194 broad.mit.edu 37 17 20370782 20370783 + Translation_Start_Site INS - - TC rs147679570 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr17:20370782_20370783insTC ENST00000423676.3 - 0 64_65 LGALS9B_ENST00000324290.5_Start_Codon_Ins Q3B8N2 LEG9B_HUMAN lectin, galactoside-binding, soluble, 9B sugar binding p.M1fs*12(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 10 GCTGAAGGCCATCTCCACCGCC 0.584 8 5 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112519 112520 + RNA INS - - A rs140158594 by1000genomes TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr18:112519_112520insA ENST00000576266.1 + 0 153_154 CCAGCTCCCCCGGGGCCTCCGT 0.530 8 76 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 14 339 --- --- --- --- POLI 11201 broad.mit.edu 37 18 51795958 51795960 + In_Frame_Del DEL CGA CGA - rs140689079 TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr18:51795958_51795960delCGA ENST00000579534.1 + 1 185_187 c.42_44delCGA c.(40-45)ggc>gg p.GD14del POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.GD14del NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 14 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding p.D17delD(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AAGGCGGCGGCGACGACGACGAG 0.729 DNA polymerases (catalytic subunits) 4 8 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 10 169 --- --- --- --- LSM14A 26065 broad.mit.edu 37 19 34710340 34710340 + Frame_Shift_Del DEL C C - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr19:34710340delC ENST00000544216.3 + 7 903 c.826delC c.(826-828)ggfs p.R276fs LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs|LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 276 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TGGGGGTCATCGGGGTGGCAG 0.438 8 558 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 9 197 --- --- --- --- TEAD2 8463 broad.mit.edu 37 19 49850472 49850473 + Frame_Shift_Ins INS - - G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr19:49850472_49850473insG ENST00000377214.4 - 8 1254_1255 c.892_893insC c.(892-894)tgcfs p.C298fs TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs Q15562 TEAD2_HUMAN TEA domain family member 2 295 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.H295fs*12(1) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAAGAAGGCATGGGGGGGGCCA 0.564 13 1069 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146805 21146805 + RNA DEL G G - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr20:21146805delG ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA TTTTTTTTTTGTCCATGAGGC 0.383 8 72 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 7 199 --- --- --- --- KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr20:47989771_47989772insG ENST00000371741.4 - 2 2491_2492 c.2325_2326insC c.(2323-2328)ccaaagfs p.PK775fs NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 775 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 8 1735 --- --- --- --- ADNP 23394 broad.mit.edu 37 20 49508204 49508204 + Frame_Shift_Del DEL T T - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr20:49508204delT ENST00000396029.3 - 5 3614 c.3047delA c.(3046-3048)agfs p.K1016fs ADNP_ENST00000371602.4_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000396032.3_Frame_Shift_Del_p.K1016fs|ADNP_ENST00000349014.3_Frame_Shift_Del_p.K1016fs NM_015339.2 NP_056154.1 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector homeobox 1016 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2) 39 CATGGTAGCCTTTTTTTTGGC 0.458 10 427 --- --- --- --- SLC19A1 6573 broad.mit.edu 37 21 46951916 46951918 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr21:46951916_46951918delCAG ENST00000311124.4 - 3 486_488 c.334_336delCTG c.(334-336)del p.L112del SLC19A1_ENST00000380010.4_In_Frame_Del_p.L112del|SLC19A1_ENST00000567670.1_In_Frame_Del_p.L112del|SLC19A1_ENST00000485649.2_In_Frame_Del_p.L72del NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 112 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) CCGAGTGGCCCAGCAGCAGCAGC 0.645 7 76 --- --- --- --- SH3BP1 23616 broad.mit.edu 37 22 38039752 38039754 + In_Frame_Del DEL AGG AGG - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chr22:38039752_38039754delAGG ENST00000599616.1 + 5 383_385 c.383_385delAGG c.(382-387)aag>a p.KE128del SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000357436.4_In_Frame_Del_p.KE192del|SH3BP1_ENST00000336738.5_In_Frame_Del_p.KE192del|SH3BP1_ENST00000442465.2_In_Frame_Del_p.KE192del|Z83844.1_ENST00000456099.1_RNA Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 192 BAR. signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) GAGACGCTGAAGGAGGAGGAGGA 0.606 OREG0026546 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 384 --- --- --- --- TXLNG2P 0 broad.mit.edu 37 Y 21758039 21758039 + RNA DEL A A - TCGA-3A-A9IZ-01A-12D-A40W-08 TCGA-3A-A9IZ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6baafe4a-8cdb-4775-8f5b-575d68e9d1ba 33790505-3f29-412f-ad68-7dbe0943b342 g.chrY:21758039delA ENST00000253320.4 + 0 3120 Q9BZA5 CY15A_HUMAN haematopoietic_and_lymphoid_tissue(1) 1 TACTTCTTGGAAAAAAAAAAA 0.378 7 35 --- --- --- ---