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 HLA-DRA 3122 broad.mit.edu 37 6 32411098 32411098 + Silent SNP A A T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:32411098A>T ENST00000395388.2 + 3 574 c.465A>T c.(463-465)acA>acT p.T155T HLA-DRA_ENST00000374982.5_Silent_p.T130T NM_019111.4 NP_061984.2 P01903 DRA_HUMAN major histocompatibility complex, class II, DR alpha 155 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 CTGTCACCACAGGAGTGTCAG 0.522000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 12 77 0 0 0.016723 0 0 PCNXL2 80003 broad.mit.edu 37 1 233296031 233296031 + Missense_Mutation SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:233296031C>G ENST00000258229.8 - 19 3749 c.3515G>C c.(3514-3516)aGa>aCa p.R1172T PCNXL2_ENST00000520463.1_5'UTR|PCNXL2_ENST00000488780.2_Missense_Mutation_p.R305T NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1172 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TTACTAACCTCTCACTTCCCG 0.413000 11 24 0 0 0.008291 0 0 OR2T8 343172 broad.mit.edu 37 1 248084349 248084349 + Silent SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:248084349C>T ENST00000319968.4 + 1 30 c.30C>T c.(28-30)ttC>ttT p.F10F NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCTCTTATTTCATTCTCCTAG 0.413000 10 87 0 0 0.006214 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119133503 119133503 + Missense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:119133503G>T ENST00000264245.4 + 12 3259 c.2727G>T c.(2725-2727)gaG>gaT p.E909D NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 909 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 AGCCCTGGGAGGAACCCCAGT 0.582000 43 370 1.15505e-17 1.64061e-17 0.009718 1 0 PHKG2 5261 broad.mit.edu 37 16 30768220 30768220 + Silent SNP T T C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:30768220T>C ENST00000563588.1 + 10 1262 c.1023T>C c.(1021-1023)taT>taC p.Y341Y PHKG2_ENST00000328273.7_Silent_p.Y345Y|PHKG2_ENST00000424889.3_Silent_p.Y341Y NM_000294.2 NP_000285.1 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 341 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1)|skin(1) 2 Colorectal(24;0.198) GGGACCCTTATGCGCTGCGGT 0.612000 4 76 0 0 0.014758 0 0 SF3A1 10291 broad.mit.edu 37 22 30741134 30741134 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr22:30741134G>A ENST00000215793.7 - 4 593 c.439C>T c.(439-441)Cct>Tct p.P147S SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 147 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 AACTCAGGAGGAGGCTCTTTG 0.552000 7 97 0 0 0.003080 0 0 ZNF717 100131827 broad.mit.edu 37 3 75790798 75790798 + Translation_Start_Site SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:75790798G>A ENST00000478296.1 - 0 273 ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Silent_p.D42D C9JSV9 C9JSV9_HUMAN zinc finger protein 717 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCAGCATCACGTCCCTGTACA 0.502000 3 14 0 0 0.004672 0 0 TTF2 8458 broad.mit.edu 37 1 117618261 117618261 + Missense_Mutation SNP A A G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:117618261A>G ENST00000369466.3 + 5 1099 c.1055A>G c.(1054-1056)gAc>gGc p.D352G NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 352 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) ACAAGCAGTGACGACGAGGAG 0.572000 3 28 0 0 0.009096 0 0 PPM1H 57460 broad.mit.edu 37 12 63042360 63042360 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:63042360C>A ENST00000228705.6 - 10 1754 c.1454G>T c.(1453-1455)aGa>aTa p.R485I PPM1H_ENST00000551214.1_5'UTR NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H 485 PP2C-like. phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) CCGCCATCCTCTGTCCTTCAG 0.507000 5 51 3.09899e-07 4.13817e-07 0.004482 1 0 KIAA1211 57482 broad.mit.edu 37 4 57182258 57182258 + Missense_Mutation SNP G G C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:57182258G>C ENST00000504228.1 + 6 2695 c.2590G>C c.(2590-2592)Gca>Cca p.A864P KIAA1211_ENST00000264229.6_Missense_Mutation_p.A864P|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A857P Q6ZU35 K1211_HUMAN KIAA1211 864 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CGACCAACAGGCAGAACAGAA 0.567000 6 87 0 0 0.001984 0 0 HS3ST5 222537 broad.mit.edu 37 6 114383995 114383995 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:114383995C>A ENST00000312719.5 - 4 1203 c.15G>T c.(13-15)caG>caT p.Q5H RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.Q5H|RP3-399L15.3_ENST00000519104.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 5 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) GCCACGCCTGCTGTTTGAATA 0.557000 8 78 2.17888e-05 2.66972e-05 0.006214 1 0 ATP8B4 79895 broad.mit.edu 37 15 50154509 50154509 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:50154509G>A ENST00000284509.6 - 27 3371 c.3230C>T c.(3229-3231)gCt>gTt p.A1077V ATP8B4_ENST00000559829.1_Missense_Mutation_p.A1077V NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1077 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CATAACTGAAGCCACTGTTGT 0.413000 7 30 0 0 0.001984 0 0 DNMT3B 1789 broad.mit.edu 37 20 31376692 31376692 + Silent SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr20:31376692G>T ENST00000328111.2 + 7 1008 c.687G>T c.(685-687)gtG>gtT p.V229V DNMT3B_ENST00000353855.2_Silent_p.V229V|DNMT3B_ENST00000344505.4_Silent_p.V229V|DNMT3B_ENST00000201963.3_Silent_p.V241V|DNMT3B_ENST00000456297.2_Silent_p.V153V|DNMT3B_ENST00000348286.2_Silent_p.V229V|DNMT3B_ENST00000443239.3_Silent_p.V187V|DNMT3B_ENST00000375623.4_Silent_p.V187V NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 229 Interaction with DNMT1 and DNMT3A.|PWWP. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGGACCTCGTGTGGGGAAAGA 0.577000 7 64 0.00448238 0.00492399 0.004482 1 0 POLR2C 5432 broad.mit.edu 37 16 57503186 57503186 + Missense_Mutation SNP A A G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:57503186A>G ENST00000219252.5 + 5 706 c.368A>G c.(367-369)aAc>aGc p.N123S POLR2C_ENST00000564651.1_3'UTR NM_032940.2 NP_116558.1 P19387 RPB3_HUMAN polymerase (RNA) II (DNA directed) polypeptide C, 33kDa 123 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 10 CTCATCTCCAACAGCCCCCGG 0.587000 9 70 0 0 0.010729 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457676 15457676 + Missense_Mutation SNP A A G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:15457676A>G ENST00000360151.4 - 8 892 c.893T>C c.(892-894)cTa>cCa p.L298P NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 CGCTGAGGGTAGAGCTGAGGG 0.562000 4 120 0 0 0.001984 0 0 LCK 3932 broad.mit.edu 37 1 32745227 32745227 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:32745227C>A ENST00000333070.4 + 10 1110 c.1010C>A c.(1009-1011)tCc>tAc p.S337Y LCK_ENST00000373564.3_Intron|LCK_ENST00000336890.5_Intron NM_001042771.1 NP_001036236.1 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 321 Protein kinase. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) CTGGGGGCCTCCCCCTGGGGC 0.517000 T TRB@ T-ALL 5 73 8.12818e-05 9.64141e-05 0.001984 1 0 RAD51 5888 broad.mit.edu 37 15 41011072 41011072 + Missense_Mutation SNP G G C rs77029343 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:41011072G>C ENST00000267868.3 + 6 773 c.505G>C c.(505-507)Gaa>Caa p.E169Q RAD51_ENST00000557850.1_Intron|RAD51_ENST00000382643.3_Missense_Mutation_p.E170Q|RAD51_ENST00000532743.1_Missense_Mutation_p.E170Q|RAD51_ENST00000423169.2_Missense_Mutation_p.E169Q NM_002875.4 NP_002866.2 Q06609 RAD51_HUMAN RAD51 recombinase 169 DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163) CTTTAGGCCAGAACGGCTGCT 0.473000 Homologous recombination 7 43 0 0 0.001984 0 0 OR2W5 441932 broad.mit.edu 37 1 247655069 247655069 + RNA SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:247655069C>T ENST00000522351.1 + 0 700 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H214Y(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CGCTCTCCCTCATCCTCATCT 0.567000 9 103 0 0 0.004482 0 0 OR1S1 219959 broad.mit.edu 37 11 57983116 57983116 + Silent SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:57983116C>G ENST00000309433.6 + 1 900 c.900C>G c.(898-900)ccC>ccG p.P300P NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TGATAAACCCCTTCATCTACA 0.453000 6 79 0 0 0.001168 0 0 MCTP2 55784 broad.mit.edu 37 15 94942203 94942203 + Missense_Mutation SNP A A T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:94942203A>T ENST00000357742.4 + 14 1802 c.1802A>T c.(1801-1803)cAa>cTa p.Q601L MCTP2_ENST00000557742.1_Missense_Mutation_p.Q189L|MCTP2_ENST00000451018.3_Missense_Mutation_p.Q601L|MCTP2_ENST00000331706.4_Missense_Mutation_p.Q189L NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 601 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AGAGATGGACAACCGAATTGT 0.299000 13 82 0 0 0.013537 0 0 NDST1 3340 broad.mit.edu 37 5 149907815 149907815 + Missense_Mutation SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:149907815C>G ENST00000261797.6 + 3 1465 c.963C>G c.(961-963)atC>atG p.I321M NDST1_ENST00000523767.1_Missense_Mutation_p.I321M NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 321 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGATGACATCTTCGTGGGCA 0.622000 3 43 0 0 0.009096 0 0 COL5A3 50509 broad.mit.edu 37 19 10079106 10079106 + Silent SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:10079106C>T ENST00000264828.3 - 59 4354 c.4269G>A c.(4267-4269)caG>caA p.Q1423Q NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1423 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CTGGCAACCCCTGATCTCCTT 0.602000 3 44 0 0 0.009096 0 0 SETBP1 26040 broad.mit.edu 37 18 42530630 42530630 + Missense_Mutation SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr18:42530630C>G ENST00000282030.5 + 4 1621 c.1325C>G c.(1324-1326)aCc>aGc p.T442S NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 442 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TCTGGAATCACCATGAGCAGT 0.448000 Schinzel-Giedion syndrome 9 118 0 0 0.006214 0 0 UQCC1 55245 broad.mit.edu 37 20 33969780 33969780 + Missense_Mutation SNP C C T rs143657027 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr20:33969780C>T ENST00000397554.1 - 4 284 c.274G>A c.(274-276)Gct>Act p.A92T UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000542501.1_Missense_Mutation_p.A92T|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000407996.2_Intron|UQCC_ENST00000397556.3_5'UTR|UQCC_ENST00000374385.5_Missense_Mutation_p.A92T|UQCC_ENST00000374377.5_Intron|UQCC_ENST00000374380.2_Intron|UQCC_ENST00000374384.2_Missense_Mutation_p.A92T|UQCC_ENST00000359226.2_Missense_Mutation_p.A92T|UQCC_ENST00000349714.5_Missense_Mutation_p.A92T Q9NVA1 UQCC_HUMAN 92 cytoplasmic membrane-bounded vesicle breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.00252) TTTGTGAAAGCACCAACCTTC 0.348000 15 163 0 0 0.003163 0 0 OBSCN 84033 broad.mit.edu 37 1 228487119 228487119 + Missense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:228487119G>T ENST00000570156.2 + 50 13444 c.13370G>T c.(13369-13371)gGg>gTg p.G4457V OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1147V|OBSCN_ENST00000359599.6_3'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3500 Ig-like 46. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGACAAGACGGGGCTGTGTGT 0.567000 19 127 5.45024e-15 7.69243e-15 0.018920 1 0 OTX1 5013 broad.mit.edu 37 2 63282636 63282636 + Splice_Site SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:63282636G>T ENST00000366671.3 + 5 526 c.249_splice c.e5-1 p.V84_splice OTX1_ENST00000282549.2_Splice_Site_p.V84_splice NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 84 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) CCCACTGCAGGTCTGGTTCAA 0.642000 3 24 2.0095e-06 2.63599e-06 0.001984 1 0 CEP290 80184 broad.mit.edu 37 12 88505592 88505592 + Missense_Mutation SNP A A T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:88505592A>T ENST00000552810.1 - 21 2439 c.2096T>A c.(2095-2097)cTg>cAg p.L699Q CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.L701Q NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 699 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TTTCAAATGCAGACTCGCATC 0.353000 4 33 0 0 0.009096 0 0 ZNF496 84838 broad.mit.edu 37 1 247464457 247464457 + Silent SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:247464457C>T ENST00000294753.4 - 9 1592 c.1128G>A c.(1126-1128)ggG>ggA p.G376G ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.G412G NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 376 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CTGTGGGGCTCCCCAGCTCTT 0.627000 4 4 0 0 0.014758 0 0 PABPC1 26986 broad.mit.edu 37 8 101719131 101719131 + Missense_Mutation SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:101719131C>G ENST00000318607.5 - 10 2559 c.1431G>C c.(1429-1431)atG>atC p.M477I PABPC1_ENST00000519004.1_Missense_Mutation_p.M432I|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000522387.1_Missense_Mutation_p.M445I NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 477 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GCTGTGTTGACATGACTCGTG 0.403000 20 82 0 0 0.014323 0 0 OPCML 4978 broad.mit.edu 37 11 132307151 132307151 + Missense_Mutation SNP G G C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:132307151G>C ENST00000331898.7 - 4 1207 c.629C>G c.(628-630)gCg>gGg p.A210G OPCML_ENST00000541867.1_Missense_Mutation_p.A210G|OPCML_ENST00000524381.1_Missense_Mutation_p.A203G|OPCML_ENST00000374778.4_Missense_Mutation_p.A169G|OPCML_ENST00000529038.1_5'UTR NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 210 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CACATCGGGCGCAGCGACATC 0.552000 11 59 0 0 0.008291 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532000 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) 6 46 0 0 0.001168 0 0 WDFY3 23001 broad.mit.edu 37 4 85771114 85771114 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:85771114G>A ENST00000322366.6 - 5 652 c.245C>T c.(244-246)aCa>aTa p.T82I WDFY3_ENST00000295888.4_Missense_Mutation_p.T82I Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 82 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TGAGACTTGTGTTGTGAACTG 0.373000 14 121 0 0 0.016723 0 0 EPRS 2058 broad.mit.edu 37 1 220154722 220154722 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:220154722C>A ENST00000366923.3 - 24 3720 c.3451G>T c.(3451-3453)Gtg>Ttg p.V1151L NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 1151 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) ATACCTACCACCACATTGCAC 0.363000 6 81 0.00307968 0.00339984 0.003080 1 0 ZNF599 148103 broad.mit.edu 37 19 35251308 35251308 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:35251308C>T ENST00000329285.7 - 4 771 c.398G>A c.(397-399)gGg>gAg p.G133E NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CCTCAAGTTCCCTTCCTGAAT 0.453000 6 68 0 0 0.001984 0 0 POP1 10940 broad.mit.edu 37 8 99169981 99169981 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:99169981C>T ENST00000401707.2 + 16 2638 c.2557C>T c.(2557-2559)Ccc>Tcc p.P853S POP1_ENST00000349693.3_Missense_Mutation_p.P853S NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 853 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GGGCCACTTCCCCAGGGCCCT 0.642000 4 83 0 0 0.009096 0 0 FAM47A 158724 broad.mit.edu 37 X 34148898 34148898 + Silent SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chrX:34148898G>T ENST00000346193.3 - 1 1549 c.1498C>A c.(1498-1500)Cgg>Agg p.R500R NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 500 Missing. NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CTGGACGTCCGACGAGTCTTG 0.657000 5 31 1.12685e-05 1.40384e-05 0.004482 1 0 COL6A3 1293 broad.mit.edu 37 2 238277341 238277341 + Missense_Mutation SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:238277341C>G ENST00000295550.4 - 10 5217 c.4765G>C c.(4765-4767)Gac>Cac p.D1589H COL6A3_ENST00000346358.4_Missense_Mutation_p.D1389H|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1383H|COL6A3_ENST00000347401.3_Missense_Mutation_p.D1388H|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1383H|COL6A3_ENST00000472056.1_Missense_Mutation_p.D982H NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1589 Nonhelical region.|VWFA 8. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGTCTGGGGTCATTGGTGATG 0.542000 15 197 0 0 0.004990 0 0 ROBO1 6091 broad.mit.edu 37 3 78763565 78763565 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:78763565C>T ENST00000436010.2 - 6 1907 c.910G>A c.(910-912)Gct>Act p.A304T ROBO1_ENST00000467549.1_Missense_Mutation_p.A304T|ROBO1_ENST00000495273.1_Missense_Mutation_p.A304T|ROBO1_ENST00000464233.1_Missense_Mutation_p.A343T Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 343 Ig-like C2-type 3. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GTCAGAGTAGCAGATGCTTCA 0.393000 8 71 0 0 0.004482 0 0 TRIM3 10612 broad.mit.edu 37 11 6472123 6472123 + Splice_Site SNP T T A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:6472123T>A ENST00000525074.1 - 9 2263 c.1870_splice c.e9+1 p.A623_splice TRIM3_ENST00000345851.3_Splice_Site_p.A623_splice|TRIM3_ENST00000359518.3_Splice_Site_p.A623_splice|TRIM3_ENST00000537602.1_Splice_Site_p.A545_splice|TRIM3_ENST00000536344.1_Splice_Site_p.A504_splice NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 623 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCCTATACCTGCAAAGTGGC 0.552000 4 28 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9074052 9074052 + Missense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:9074052G>T ENST00000397910.4 - 3 13597 c.13394C>A c.(13393-13395)cCt>cAt p.P4465H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4467 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTGGCAGGAGGTATGGTTGT 0.502000 11 129 6.40141e-05 7.7163e-05 0.010729 1 0 CHD7 55636 broad.mit.edu 37 8 61757453 61757453 + Missense_Mutation SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:61757453C>G ENST00000423902.2 + 22 5360 c.4881C>G c.(4879-4881)caC>caG p.H1627Q CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1627 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TTCTTTCCCACGGACGCTATA 0.443000 3 67 0 0 0.014758 0 0 ZNF99 7652 broad.mit.edu 37 19 22940373 22940373 + Missense_Mutation SNP T T C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:22940373T>C ENST00000397104.3 - 5 2064 c.2065A>G c.(2065-2067)Aag>Gag p.K689E ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E zinc finger protein 99 p.K689E(3) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGAATTATCTTATGTTTTCTA 0.343000 3 58 0 0 0.009096 0 0 FAM160B1 57700 broad.mit.edu 37 10 116621056 116621056 + Nonsense_Mutation SNP A A T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr10:116621056A>T ENST00000369248.4 + 16 2490 c.2155A>T c.(2155-2157)Aga>Tga p.R719* FAM160B1_ENST00000369250.3_Nonsense_Mutation_p.R719* NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 719 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 TCTGTTAGTCAGAAAGCGGTT 0.413000 11 73 0 0 0.013537 0 0 SELPLG 6404 broad.mit.edu 37 12 109017870 109017870 + Silent SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:109017870G>A ENST00000388962.3 - 2 373 c.214C>T c.(214-216)Ctg>Ttg p.L72L SELPLG_ENST00000550948.1_Silent_p.L72L|SELPLG_ENST00000228463.6_Silent_p.L88L NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 72 blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 GGCCCAGTCAGAGGAGTGGTG 0.572000 10 52 0 0 0.008291 0 0 NUP188 23511 broad.mit.edu 37 9 131730947 131730947 + Missense_Mutation SNP A A C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr9:131730947A>C ENST00000372577.2 + 9 769 c.748A>C c.(748-750)Aat>Cat p.N250H NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 250 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TAGGCAGACCAATAGGCACCT 0.388000 9 110 0 0 0.008291 0 0 FOCAD 54914 broad.mit.edu 37 9 20981490 20981490 + Missense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr9:20981490G>T ENST00000380249.1 + 40 4807 c.4443G>T c.(4441-4443)caG>caT p.Q1481H FOCAD_ENST00000605086.1_Missense_Mutation_p.Q917H|FOCAD_ENST00000338382.6_Missense_Mutation_p.Q1481H NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1481 integral to membrane binding CTGATGAACAGATCCTGGGTT 0.428000 8 77 1.12685e-05 1.40384e-05 0.004482 1 0 ADPRH 141 broad.mit.edu 37 3 119305362 119305362 + Missense_Mutation SNP C C A rs143222300 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:119305362C>A ENST00000478399.1 + 3 1934 c.529C>A c.(529-531)Ctt>Att p.L177I ADPRH_ENST00000465513.1_Missense_Mutation_p.L177I|ADPRH_ENST00000357003.3_Missense_Mutation_p.L177I|ADPRH_ENST00000478927.1_Missense_Mutation_p.L177I|ADPRH_ENST00000471850.1_3'UTR P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 177 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) TGCGTCTGCTCTTTTTACAGC 0.527000 10 88 7.48243e-07 9.87326e-07 0.006214 1 0 MGAT5 4249 broad.mit.edu 37 2 135107435 135107435 + Missense_Mutation SNP A A G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:135107435A>G ENST00000409645.1 + 10 1424 c.1172A>G c.(1171-1173)tAt>tGt p.Y391C MGAT5_ENST00000281923.2_Missense_Mutation_p.Y391C Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 391 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) CATGCAAATTATGCCCAATCG 0.423000 11 161 0 0 0.010729 0 0 GATA5 140628 broad.mit.edu 37 20 61039976 61039976 + Silent SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr20:61039976G>T ENST00000252997.2 - 7 1171 c.1110C>A c.(1108-1110)gcC>gcA p.A370A NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 370 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) TGGAGGGGAAGGCAAAGTCCT 0.672000 4 9 0.00909568 0.00979873 0.009096 1 0 MYH4 4622 broad.mit.edu 37 17 10356999 10356999 + Silent SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr17:10356999C>A ENST00000255381.2 - 23 3005 c.2895G>T c.(2893-2895)ctG>ctT p.L965L CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 965 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CAACCTTGGCCAGTGTCAGCT 0.398000 12 149 4.93089e-13 6.87243e-13 0.020292 1 0 DAPK2 23604 broad.mit.edu 37 15 64332369 64332369 + Splice_Site SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:64332369C>A ENST00000261891.3 - 1 97 c.92_splice c.e1+1 p.S31_splice DAPK2_ENST00000558069.1_Splice_Site_p.S31_splice|DAPK2_ENST00000457488.1_Splice_Site_p.S31_splice|DAPK2_ENST00000558482.1_5'UTR Q9UIK4 DAPK2_HUMAN death-associated protein kinase 2 31 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) AGTCTCCTACCTCCCCAGCTC 0.547000 10 67 0.00621372 0.00679244 0.006214 1 0 ROCK1 6093 broad.mit.edu 37 18 18690844 18690844 + Nonsense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr18:18690844G>A ENST00000399799.1 - 1 968 c.28C>T c.(28-30)Cga>Tga p.R10* NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 10 actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TTTTCAAATCGAGTCTCAAAA 0.502000 9 66 0 0 0.006214 0 0 LRRC55 219527 broad.mit.edu 37 11 56949738 56949738 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:56949738C>T ENST00000497933.1 + 1 518 c.371C>T c.(370-372)cCg>cTg p.P124L NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 94 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 ACAGCAGTGCCGCCTGGCTAC 0.607000 4 34 0 0 0.014758 0 0 ATG3 64422 broad.mit.edu 37 3 112255402 112255402 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:112255402C>A ENST00000402314.2 - 10 1101 c.714G>T c.(712-714)caG>caT p.Q238H ATG3_ENST00000283290.5_Missense_Mutation_p.Q238H|ATG3_ENST00000495756.1_5'UTR Q9NT62 ATG3_HUMAN autophagy related 3 238 autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination cytoplasmic ubiquitin ligase complex|cytosol Atg12 ligase activity|Atg8 ligase activity|enzyme binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3) 9 TCACATGATCCTGACTGATGT 0.433000 9 56 7.48243e-07 9.87326e-07 0.006214 1 0 KMT2D 8085 broad.mit.edu 37 12 49437156 49437156 + Silent SNP G G C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:49437156G>C ENST00000301067.7 - 24 5522 c.5523C>G c.(5521-5523)gcC>gcG p.A1841A NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CTGGTGTATCGGCTTTGCCCT 0.562000 OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 175 0 0 0.021022 0 0 SGOL2 151246 broad.mit.edu 37 2 201435837 201435837 + Missense_Mutation SNP G G C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:201435837G>C ENST00000357799.4 + 7 866 c.768G>C c.(766-768)caG>caC p.Q256H NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 256 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 GAAACGCCCAGTCTATTGGCC 0.418000 4 59 0 0 0.009096 0 0 CES1 1066 broad.mit.edu 37 16 55846924 55846924 + Missense_Mutation SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:55846924C>G ENST00000422046.2 - 9 1255 c.974G>C c.(973-975)gGg>gCg p.G325A CES1_ENST00000360526.3_Missense_Mutation_p.G326A|CES1_ENST00000361503.4_Missense_Mutation_p.G325A P23141 EST1_HUMAN carboxylesterase 1 325 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CAGCAGCATCCCATCAATCAC 0.527000 3 43 0 0 0.014758 0 0 BTBD3 22903 broad.mit.edu 37 20 11900471 11900471 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr20:11900471C>T ENST00000405977.1 + 4 1148 c.523C>T c.(523-525)Ctc>Ttc p.L175F BTBD3_ENST00000254977.3_Missense_Mutation_p.L114F|BTBD3_ENST00000399006.2_Missense_Mutation_p.L114F|BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000378226.2_Missense_Mutation_p.L175F Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 175 BTB. breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 TGCTGCTTTTCTCGCTATGCT 0.413000 10 54 0 0 0.020292 0 0 DACT1 51339 broad.mit.edu 37 14 59107505 59107505 + Missense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr14:59107505G>T ENST00000395153.3 + 2 544 c.397G>T c.(397-399)Gac>Tac p.D133Y DACT1_ENST00000541264.2_5'UTR|DACT1_ENST00000335867.4_Missense_Mutation_p.D133Y|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000556859.1_5'UTR|DACT1_ENST00000395151.3_5'UTR NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 133 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GCAAGAGCTTGACAAGCAGAT 0.453000 5 100 0.000157383 0.000184718 0.003080 1 0 CFHR1 3078 broad.mit.edu 37 1 196796071 196796071 + Silent SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:196796071C>T ENST00000320493.5 + 3 454 c.366C>T c.(364-366)aaC>aaT p.N122N CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Silent_p.N122N NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 122 Sushi 2. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 GACTTCAAAACAATGAGAACA 0.418000 11 101 0 0 0.008291 0 0 TTC38 55020 broad.mit.edu 37 22 46685772 46685772 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr22:46685772C>T ENST00000381031.3 + 13 1368 c.1292C>T c.(1291-1293)tCc>tTc p.S431F TTC38_ENST00000445282.2_Missense_Mutation_p.S373F NM_017931.2 NP_060401.2 Q5R3I4 TTC38_HUMAN tetratricopeptide repeat domain 38 431 binding endometrium(4)|large_intestine(3)|lung(4)|ovary(1) 12 AACTGCACCTCCAGCGTCCAT 0.597000 5 30 0 0 0.014758 0 0 PFKFB2 5208 broad.mit.edu 37 1 207235398 207235398 + Silent SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:207235398C>T ENST00000367080.3 + 3 310 c.186C>T c.(184-186)ctC>ctT p.L62L PFKFB2_ENST00000545806.1_Silent_p.L29L|PFKFB2_ENST00000411990.2_5'UTR|PFKFB2_ENST00000367079.2_Silent_p.L62L NM_006212.2 NP_006203.2 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 62 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 20 Prostate(682;0.19) CACGCTACCTCAACTGGATTG 0.498000 4 45 0 0 0.014758 0 0 HADHB 3032 broad.mit.edu 37 2 26486289 26486289 + Missense_Mutation SNP A A T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:26486289A>T ENST00000317799.5 + 4 255 c.151A>T c.(151-153)Ata>Tta p.I51L HADHB_ENST00000545822.1_Missense_Mutation_p.I29L|HADHB_ENST00000537713.1_Missense_Mutation_p.I51L|HADHB_ENST00000405867.3_Missense_Mutation_p.I51L|HADHB_ENST00000494615.1_3'UTR NM_000183.2 NP_000174.1 P55084 ECHB_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit 51 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAAACCCAATATAAGGAATGT 0.338000 12 61 0 0 0.006122 0 0 KMT2E 55904 broad.mit.edu 37 7 104742407 104742407 + Silent SNP T T C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:104742407T>C ENST00000334877.4 + 17 2496 c.1962T>C c.(1960-1962)ttT>ttC p.F654F KMT2E_ENST00000311117.3_Silent_p.F654F|KMT2E_ENST00000257745.4_Silent_p.F654F|KMT2E_ENST00000334914.7_5'UTR lysine (K)-specific methyltransferase 2E GAAAAAGTTTTTCTCGGAGTA 0.408000 19 103 0 0 0.016522 0 0 PCLO 27445 broad.mit.edu 37 7 82583174 82583174 + Silent SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:82583174C>T ENST00000423517.2 - 5 7432 c.7095G>A c.(7093-7095)gaG>gaA p.E2365E PCLO_ENST00000333891.8_Silent_p.E2365E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2296 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GACCAAAGGTCTCTCCAGATG 0.433000 4 79 0 0 0.009096 0 0 LEPRE1 64175 broad.mit.edu 37 1 43221286 43221286 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:43221286C>T ENST00000236040.4 - 6 1143 c.1103G>A c.(1102-1104)cGa>cAa p.R368Q LEPRE1_ENST00000296388.5_Missense_Mutation_p.R368Q|LEPRE1_ENST00000397054.3_Missense_Mutation_p.R368Q NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 368 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CAGTAGGCTTCGCTGTCGGTA 0.517000 8 89 0 0 0.004482 0 0 RYR2 6262 broad.mit.edu 37 1 237608811 237608811 + Silent SNP T T C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:237608811T>C ENST00000366574.2 + 14 1598 c.1281T>C c.(1279-1281)aaT>aaC p.N427N RYR2_ENST00000542537.1_Silent_p.N411N|RYR2_ENST00000360064.6_Silent_p.N425N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 427 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCCTTTTCAATAGATTTATAA 0.368000 20 101 0 0 0.010504 0 0 SLC37A3 84255 broad.mit.edu 37 7 140051137 140051137 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:140051137C>A ENST00000326232.9 - 9 1021 c.818G>T c.(817-819)aGt>aTt p.S273I SLC37A3_ENST00000340308.3_Missense_Mutation_p.S273I|SLC37A3_ENST00000447932.2_Missense_Mutation_p.S273I|SLC37A3_ENST00000429996.2_3'UTR NM_207113.1 NP_996996.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 273 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) GGCAACAGAACTATCATCTTG 0.453000 7 63 5.18039e-06 6.6013e-06 0.003080 1 0 WDR17 116966 broad.mit.edu 37 4 177017722 177017722 + Missense_Mutation SNP G G C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:177017722G>C ENST00000280190.4 + 2 208 c.52G>C c.(52-54)Gaa>Caa p.E18Q WDR17_ENST00000508596.1_Intron|WDR17_ENST00000393643.2_Intron|WDR17_ENST00000509792.1_Intron|WDR17_ENST00000507824.2_Missense_Mutation_p.E18Q Q8IZU2 WDR17_HUMAN WD repeat domain 17 18 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TGATTGGTATGAAGGACTACA 0.323000 10 96 0 0 0.008291 0 0 LYST 1130 broad.mit.edu 37 1 235970013 235970013 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:235970013C>T ENST00000389794.3 - 6 2597 c.2423G>A c.(2422-2424)tGc>tAc p.C808Y LYST_ENST00000536965.1_Missense_Mutation_p.C808Y|LYST_ENST00000389793.2_Missense_Mutation_p.C808Y Q99698 LYST_HUMAN lysosomal trafficking regulator 808 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ACCATTTAAGCAATTTAATTC 0.328000 5 62 0 0 0.014758 0 0 SFTPB 6439 broad.mit.edu 37 2 85893804 85893804 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:85893804G>A ENST00000342375.3 - 5 464 c.329C>T c.(328-330)cCc>cTc p.P110L SFTPB_ENST00000409383.1_Missense_Mutation_p.P122L|SFTPB_ENST00000393822.3_Missense_Mutation_p.P122L|SFTPB_ENST00000519937.2_Missense_Mutation_p.P110L NM_000542.3|NM_198843.2 NP_000533.3|NP_942140.2 P07988 PSPB_HUMAN surfactant protein B 110 Saposin B-type 1. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 GTTGCACTGGGGCATGAGCAG 0.612000 11 163 0 0 0.020292 0 0 NDN 4692 broad.mit.edu 37 15 23931409 23931409 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:23931409G>A ENST00000331837.4 - 1 1041 c.956C>T c.(955-957)tCt>tTt p.S319F NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 319 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CTAGTCCTCAGAGACACTGCT 0.577000 Prader-Willi syndrome 4 62 0 0 0.001168 0 0 KIF21B 23046 broad.mit.edu 37 1 200971448 200971448 + Nonsense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:200971448C>A ENST00000332129.2 - 9 1559 c.1243G>T c.(1243-1245)Gag>Tag p.E415* KIF21B_ENST00000461742.2_Nonsense_Mutation_p.E415*|KIF21B_ENST00000422435.2_Nonsense_Mutation_p.E415*|KIF21B_ENST00000360529.5_Nonsense_Mutation_p.E415* NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 415 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTATAGCCCTCAGCGCCATCC 0.607000 11 62 1.08611e-07 1.47684e-07 0.010729 1 0 ZHX1 11244 broad.mit.edu 37 8 124267459 124267459 + Missense_Mutation SNP T T A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:124267459T>A ENST00000395571.3 - 3 1345 c.728A>T c.(727-729)cAt>cTt p.H243L ZHX1_ENST00000297857.2_Missense_Mutation_p.H243L|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.H243L NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 243 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) AGTACTTGGATGTATTCTGTT 0.398000 6 52 0 0 0.001168 0 0 PITPNC1 26207 broad.mit.edu 37 17 65665757 65665757 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr17:65665757G>A ENST00000580974.1 + 7 1292 c.596G>A c.(595-597)aGa>aAa p.R199K PITPNC1_ENST00000581322.1_Missense_Mutation_p.R199K|PITPNC1_ENST00000335257.6_Missense_Mutation_p.R199K|PITPNC1_ENST00000299954.9_Missense_Mutation_p.R199K NM_012417.3|NM_181671.2 NP_036549.2|NP_858057.1 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, cytoplasmic 1 199 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) CTTCAGACCAGAGTGGAACAA 0.493000 3 13 0 0 0.004672 0 0 ARPC3 10094 broad.mit.edu 37 12 110883275 110883275 + Nonsense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:110883275C>A ENST00000228825.7 - 2 234 c.88G>T c.(88-90)Gga>Tga p.G30* RP11-478C19.2_ENST00000550231.1_RNA|ARPC3_ENST00000471641.1_5'UTR NM_001278556.1|NM_005719.2 NP_001265485.1|NP_005710.1 O15145 ARPC3_HUMAN actin related protein 2/3 complex, subunit 3, 21kDa 30 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton lung(1)|ovary(1) 2 GGGGCAGGTCCTTTGAATTGA 0.408000 7 53 0.000157383 0.000184718 0.003080 1 0 FAM179B 23116 broad.mit.edu 37 14 45432036 45432036 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr14:45432036C>T ENST00000361462.2 + 1 595 c.412C>T c.(412-414)Cgg>Tgg p.R138W FAM179B_ENST00000361577.3_Missense_Mutation_p.R138W|FAM179B_ENST00000382233.2_Missense_Mutation_p.R138W Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 138 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 AGCTTTGTATCGGGCACTGGG 0.632000 6 59 0 0 0.001168 0 0 RP11-403I13.8 0 broad.mit.edu 37 1 149288612 149288612 + RNA SNP G G C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:149288612G>C ENST00000433084.1 + 0 1162 GCTTCTTTCCGTTGCAGAGAA 0.652000 2 3 0 0 0.004672 0 0 HDAC9 9734 broad.mit.edu 37 7 18869166 18869166 + Missense_Mutation SNP G G C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:18869166G>C ENST00000406451.3 + 19 2602 c.2452G>C c.(2452-2454)Gat>Cat p.D818H HDAC9_ENST00000441542.2_Missense_Mutation_p.D821H|HDAC9_ENST00000401921.1_Missense_Mutation_p.D777H|HDAC9_ENST00000432645.2_Missense_Mutation_p.D818H NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 818 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) ATTGATTGTAGATCTGGTATG 0.383000 6 68 0 0 0.001168 0 0 LRBA 987 broad.mit.edu 37 4 151773336 151773336 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:151773336C>T ENST00000535741.1 - 23 3999 c.3526G>A c.(3526-3528)Gat>Aat p.D1176N LRBA_ENST00000510413.1_Missense_Mutation_p.D1176N|LRBA_ENST00000507224.1_Missense_Mutation_p.D1176N|LRBA_ENST00000357115.3_Missense_Mutation_p.D1176N P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1176 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) ATTCCAGAATCTTTAGAATCT 0.368000 4 108 0 0 0.009096 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572893 140572893 + Silent SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:140572893C>A ENST00000239446.4 + 1 952 c.768C>A c.(766-768)ccC>ccA p.P256P NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 256 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAAACAGCCCCATTGGGTTCC 0.473000 7 59 2.17888e-05 2.66972e-05 0.006214 1 0 CHDC2 286464 broad.mit.edu 37 X 36091390 36091390 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chrX:36091390G>A ENST00000378660.1 + 4 513 c.325G>A c.(325-327)Gag>Aag p.E109K CHDC2_ENST00000313548.4_Missense_Mutation_p.E109K calponin homology domain containing 2 CTACTTTTTTGAGAAGGTTGT 0.418000 5 37 0 0 0.001984 0 0 PDZD2 23037 broad.mit.edu 37 5 32072373 32072373 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:32072373G>A ENST00000438447.1 + 17 3063 c.2675G>A c.(2674-2676)gGa>gAa p.G892E PDZD2_ENST00000282493.3_Missense_Mutation_p.G892E O15018 PDZD2_HUMAN PDZ domain containing 2 892 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GATCACCCGGGAAGTGGCTGC 0.607000 4 36 0 0 0.009096 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263970 140263970 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:140263970C>T ENST00000289272.2 + 1 2117 c.2117C>T c.(2116-2118)gCg>gTg p.A706V PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A706V|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCATCTGCGCGGTGTCCAGC 0.657000 14 95 0 0 0.016723 0 0 CCT7 10574 broad.mit.edu 37 2 73471671 73471671 + Splice_Site SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:73471671G>A ENST00000539919.1 + 7 685 c.e7-1 CCT7_ENST00000538797.1_Splice_Site|CCT7_ENST00000258091.5_Splice_Site|CCT7_ENST00000473786.1_Splice_Site|CCT7_ENST00000540468.1_Splice_Site|CCT7_ENST00000537131.1_Splice_Site|CCT7_ENST00000398422.2_Intron NM_001166285.1 NP_001159757.1 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 (eta) 'de novo' posttranslational protein folding ATP binding|unfolded protein binding breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1) 7 TTGTGTCCCAGGGAGCAGAGG 0.493000 3 40 0 0 0.009096 0 0 NFKBID 84807 broad.mit.edu 37 19 36381356 36381356 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:36381356C>A ENST00000396901.1 - 10 1216 c.643G>T c.(643-645)Gtg>Ttg p.V215L NFKBID_ENST00000352614.2_Missense_Mutation_p.V367L|NFKBID_ENST00000606253.1_Missense_Mutation_p.V215L|NFKBID_ENST00000340950.2_Missense_Mutation_p.V52L NM_139239.1 NP_640332.1 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta 215 inflammatory response nucleus breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 14 GCAGCCTGCACGGCCAAGTGC 0.612000 6 100 8.12818e-05 9.64141e-05 0.001984 1 0 PHF1 5252 broad.mit.edu 37 6 33382864 33382864 + Nonsense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:33382864C>T ENST00000374512.3 + 12 1442 c.1171C>T c.(1171-1173)Caa>Taa p.Q391* PHF1_ENST00000374516.3_Silent_p.R394R NM_002636.4 NP_002627.1 O43189 PHF1_HUMAN PHD finger protein 1 469 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) CAGCAGTGCGCAATCAGCCCG 0.672000 OREG0017346 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 24 0 0 0.001168 0 0 ACAN 176 broad.mit.edu 37 15 89400400 89400400 + Silent SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:89400400C>T ENST00000439576.2 + 12 4958 c.4584C>T c.(4582-4584)ctC>ctT p.L1528L ACAN_ENST00000561243.1_Silent_p.L1528L|ACAN_ENST00000559004.1_Silent_p.L1528L|ACAN_ENST00000352105.7_Silent_p.L1528L NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1528 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TCAGCAGGCTCCCTTCTGGAG 0.502000 4 30 0 0 0.009096 0 0 DNAH2 146754 broad.mit.edu 37 17 7719956 7719956 + Missense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr17:7719956G>T ENST00000572933.1 + 64 11257 c.9797G>T c.(9796-9798)cGc>cTc p.R3266L DNAH2_ENST00000389173.2_Missense_Mutation_p.R3266L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3266 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GAGGAGCTTCGCAAGAAGTCT 0.537000 22 215 2.89027e-11 4.00329e-11 0.014323 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553607 140553607 + Silent SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:140553607C>A ENST00000231137.3 + 1 1365 c.1191C>A c.(1189-1191)gtC>gtA p.V397V NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 397 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCCATCTGTCGAAAACTTCT 0.493000 9 65 2.17888e-05 2.66972e-05 0.006214 1 0 NPHS1 4868 broad.mit.edu 37 19 36334405 36334405 + Missense_Mutation SNP A A T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:36334405A>T ENST00000378910.5 - 17 2302 c.2303T>A c.(2302-2304)aTc>aAc p.I768N NPHS1_ENST00000353632.6_Missense_Mutation_p.I768N NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 768 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCCCGGGAGGATGGGATTGGC 0.567000 15 114 0 0 0.006122 0 0 OR5D18 219438 broad.mit.edu 37 11 55587308 55587308 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:55587308C>A ENST00000333976.4 + 1 223 c.203C>A c.(202-204)tCc>tAc p.S68Y NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) AGCCAACTCTCCTTTGTGGAT 0.413000 15 221 5.03518e-11 6.93115e-11 0.007413 1 0 MAP3K4 4216 broad.mit.edu 37 6 161527689 161527689 + Missense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:161527689G>T ENST00000392142.4 + 20 4148 c.4000G>T c.(4000-4002)Gtt>Ttt p.V1334F MAP3K4_ENST00000366919.2_Missense_Mutation_p.V1284F|MAP3K4_ENST00000366920.2_Missense_Mutation_p.V1330F|MAP3K4_ENST00000348824.7_Missense_Mutation_p.V1280F NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1334 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TGTTATGCACGTTGGCTTGAG 0.393000 6 106 0.00307968 0.00339984 0.003080 1 0 ZKSCAN4 387032 broad.mit.edu 37 6 28213679 28213679 + Missense_Mutation SNP A A G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:28213679A>G ENST00000377294.2 - 5 1096 c.853T>C c.(853-855)Tgc>Cgc p.C285R ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.C130R NM_019110.3 NP_061983.2 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 285 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 CTCAGGTGGCATATCTTCCCA 0.488000 8 102 0 0 0.004482 0 0 GPR115 221393 broad.mit.edu 37 6 47681878 47681878 + Silent SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:47681878G>T ENST00000283303.2 + 6 1155 c.897G>T c.(895-897)ggG>ggT p.G299G GPR115_ENST00000371220.1_Silent_p.G356G|GPR115_ENST00000327753.3_Silent_p.G299G NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 299 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 CAACCTTGGGGGCTATCCTGA 0.468000 4 33 0.00909568 0.00979873 0.009096 1 0 KLF7 8609 broad.mit.edu 37 2 207953272 207953272 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:207953272C>A ENST00000309446.6 - 3 1143 c.767G>T c.(766-768)tGt>tTt p.C256F KLF7_ENST00000412414.2_Missense_Mutation_p.C228F|KLF7_ENST00000423015.1_Missense_Mutation_p.V189L|KLF7_ENST00000458272.1_Missense_Mutation_p.C66F|KLF7_ENST00000467833.1_5'UTR|KLF7_ENST00000421199.1_Missense_Mutation_p.C223F NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 256 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) ACGCCACTCACATCCCTCCCA 0.517000 6 122 0.00116845 0.00131598 0.001168 1 0 RFWD2 64326 broad.mit.edu 37 1 175956199 175956199 + Silent SNP A A T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:175956199A>T ENST00000367669.3 - 18 2527 c.2013T>A c.(2011-2013)ctT>ctA p.L671L RFWD2_ENST00000308769.8_Silent_p.L647L NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 671 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 AAGTCTTAGAAAGTCCTTTAT 0.313000 8 69 0 0 0.006214 0 0 F5 2153 broad.mit.edu 37 1 169526045 169526045 + Missense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:169526045G>T ENST00000367796.3 - 6 992 c.791C>A c.(790-792)cCa>cAa p.P264Q F5_ENST00000546081.1_Missense_Mutation_p.P127Q|F5_ENST00000367797.3_Missense_Mutation_p.P264Q P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 264 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GAATAATTCTGGCCCCGAGCT 0.488000 16 35 3.52763e-06 4.54718e-06 0.004990 1 0 COL5A3 50509 broad.mit.edu 37 19 10079135 10079135 + Missense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:10079135G>T ENST00000264828.3 - 59 4325 c.4240C>A c.(4240-4242)Ccg>Acg p.P1414T NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1414 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GCTTCTCCCGGGGGGCCAATG 0.597000 3 37 0.00024832 0.000288413 0.009096 1 0 COL13A1 1305 broad.mit.edu 37 10 71712696 71712696 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr10:71712696C>A ENST00000356340.3 + 37 2620 c.2084C>A c.(2083-2085)gCg>gAg p.A695E COL13A1_ENST00000398964.3_Missense_Mutation_p.A666E|COL13A1_ENST00000398973.3_Missense_Mutation_p.A669E|COL13A1_ENST00000398972.3_Missense_Mutation_p.A681E|COL13A1_ENST00000522165.1_Missense_Mutation_p.A664E|COL13A1_ENST00000398971.3_Missense_Mutation_p.A680E|COL13A1_ENST00000398968.3_Missense_Mutation_p.A676E|COL13A1_ENST00000398969.3_Missense_Mutation_p.A623E|COL13A1_ENST00000520267.1_Missense_Mutation_p.A623E|COL13A1_ENST00000357811.3_Missense_Mutation_p.A661E|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398978.3_Missense_Mutation_p.A695E|COL13A1_ENST00000517713.1_Missense_Mutation_p.A646E|COL13A1_ENST00000398974.3_Missense_Mutation_p.A683E|COL13A1_ENST00000398966.3_Missense_Mutation_p.A673E|COL13A1_ENST00000354547.3_Missense_Mutation_p.A673E Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 695 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GACCAAGGAGCGCCTGGATTA 0.438000 5 61 0.000602214 0.000692236 0.014758 1 0 NAA25 80018 broad.mit.edu 37 12 112525588 112525588 + Missense_Mutation SNP G G C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:112525588G>C ENST00000261745.4 - 4 549 c.301C>G c.(301-303)Ctt>Gtt p.L101V NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 101 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 GCCTCATAAAGTTTTGTAACT 0.363000 10 59 0 0 0.008291 0 0 FAM47A 158724 broad.mit.edu 37 X 34149052 34149052 + Silent SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chrX:34149052C>T ENST00000346193.3 - 1 1395 c.1344G>A c.(1342-1344)cgG>cgA p.R448R NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 448 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TTTTCTTCACCCGGGCCTCAC 0.562000 6 35 0 0 0.001168 0 0 CHDC2 286464 broad.mit.edu 37 X 36091419 36091419 + Missense_Mutation SNP G G C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chrX:36091419G>C ENST00000378660.1 + 4 542 c.354G>C c.(352-354)tgG>tgC p.W118C CHDC2_ENST00000313548.4_Missense_Mutation_p.W118C calponin homology domain containing 2 CACAGACCTGGTTCAGTCTCT 0.408000 4 44 0 0 0.014758 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969493 140969493 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chrX:140969493C>T ENST00000298296.1 + 4 820 c.820C>T c.(820-822)Cgc>Tgc p.R274C MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 274 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GCCCCAGAACCGCCTCCTGAT 0.502000 9 77 0 0 0.004482 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 59 0 0 0.004672 0 0 OTOGL 283310 broad.mit.edu 37 12 80661101 80661101 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:80661101G>A ENST00000458043.2 + 21 2438 c.2432G>A c.(2431-2433)gGc>gAc p.G811D OTOGL_ENST00000547103.1_Missense_Mutation_p.G811D NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ACACCCTCGGGCTTATGGTAG 0.333000 5 14 0 0 0.001168 0 0 UACA 55075 broad.mit.edu 37 15 70961491 70961491 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:70961491C>T ENST00000322954.6 - 16 1717 c.1532G>A c.(1531-1533)gGt>gAt p.G511D UACA_ENST00000539319.1_Missense_Mutation_p.G402D|UACA_ENST00000560441.1_Missense_Mutation_p.G496D|UACA_ENST00000379983.2_Missense_Mutation_p.G498D NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 511 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 TTTAACTTTACCTTCTGACTC 0.398000 33 217 0 0 0.012213 0 0 F13A1 2162 broad.mit.edu 37 6 6175039 6175039 + Silent SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:6175039G>A ENST00000264870.3 - 12 1786 c.1521C>T c.(1519-1521)ctC>ctT p.L507L NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 507 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CTTCTGTGTTGAGGGGCTTTT 0.463000 3 39 0 0 0.014758 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74387769 74387769 + RNA SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:74387769C>T ENST00000429810.2 - 0 474 TGGCAGTGCTCAGGATGCCAG 0.498000 7 39 0 0 0.001984 0 0 UFD1L 7353 broad.mit.edu 37 22 19463058 19463058 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr22:19463058C>T ENST00000263202.9 - 2 200 c.71G>A c.(70-72)cGc>cAc p.R24H UFD1L_ENST00000360834.4_Missense_Mutation_p.R24H|UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Missense_Mutation_p.R24H NM_001035247.2|NM_005659.6 NP_001030324.2|NP_005650.2 Q92890 UFD1_HUMAN ubiquitin fusion degradation 1 like (yeast) 24 skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity large_intestine(3)|upper_aerodigestive_tract(1) 4 Colorectal(54;0.0993) AGAGAAGCAGCGGTACTGTGT 0.438000 9 72 0 0 0.008291 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 24 0 0 0.004672 0 0 FGA 2243 broad.mit.edu 37 4 155507769 155507769 + Missense_Mutation SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:155507769C>G ENST00000302053.3 - 5 890 c.812G>C c.(811-813)cGa>cCa p.R271P FGA_ENST00000403106.3_Missense_Mutation_p.R271P NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 271 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GGAGCCTCCTCGAGTAATCTC 0.537000 10 110 0 0 0.010729 0 0 VASP 7408 broad.mit.edu 37 19 46027906 46027906 + Missense_Mutation SNP G G C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:46027906G>C ENST00000245932.6 + 11 1391 c.1035G>C c.(1033-1035)caG>caC p.Q345H NM_003370.3 NP_003361.1 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein 345 2 X 15 AA tandem repeats of L-[EQ]-[KR]- [MV]-K-[EQ]-E-[IL]-[IL]-E-[AEV]-[FV]- [KRV]-[KQ]-E.|EVH2 block C.|EVH2. axon guidance|cell junction assembly|T cell receptor signaling pathway actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane actin binding|profilin binding|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2) 18 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) CGGACCTACAGAGGGTGAAAC 0.557000 8 60 0 0 0.003080 0 0 SMEK2 57223 broad.mit.edu 37 2 55792108 55792108 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:55792108C>T ENST00000272313.5 - 12 2077 c.1750G>A c.(1750-1752)Gtt>Att p.V584I SMEK2_ENST00000407823.3_Missense_Mutation_p.V637I|SMEK2_ENST00000345102.5_Missense_Mutation_p.V669I NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 669 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AATGTCTGAACATATTCAATC 0.299000 3 27 0 0 0.009096 0 0 ABCB10 23456 broad.mit.edu 37 1 229685163 229685163 + Missense_Mutation SNP G G C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:229685163G>C ENST00000344517.4 - 2 578 c.536C>G c.(535-537)aCg>aGg p.T179R NM_012089.2 NP_036221.2 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 10 179 ABC transmembrane type-1. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2) 31 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) ACTGGACATCGTGAGAAATCC 0.512000 9 46 0 0 0.004482 0 0 ADCY8 114 broad.mit.edu 37 8 131861916 131861916 + Missense_Mutation SNP A A T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:131861916A>T ENST00000286355.5 - 10 4436 c.2344T>A c.(2344-2346)Tat>Aat p.Y782N ADCY8_ENST00000377928.3_Intron NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 782 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CGGGCCAAATAGGTCTCATTA 0.463000 HNSCC(32;0.087) 23 118 0 0 0.018920 0 0 IGLV9-49 28773 broad.mit.edu 37 22 22697799 22697799 + RNA SNP A A T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr22:22697799A>T ENST00000427632.2 + 0 124 CACCTTCTGCATCAGCCTCCC 0.597000 OREG0026357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 21 0 0 0.004672 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84530644 84530644 + RNA SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr9:84530644C>G ENST00000527857.1 + 0 666 NR_026851.1 CTTATTTTCACCCTCACCACT 0.532000 16 245 0 0 0.004007 0 0 AVL9 23080 broad.mit.edu 37 7 32598881 32598881 + Silent SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:32598881G>A ENST00000318709.4 + 10 1241 c.1020G>A c.(1018-1020)gaG>gaA p.E340E AVL9_ENST00000404479.1_Silent_p.E340E|AVL9_ENST00000409301.1_Silent_p.E340E NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 340 integral to membrane endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GTGTCTTAGAGGACCCCAACT 0.443000 4 55 0 0 0.014758 0 0 SMG1 23049 broad.mit.edu 37 16 18883652 18883652 + Silent SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:18883652G>A ENST00000446231.2 - 15 2449 c.2037C>T c.(2035-2037)atC>atT p.I679I SMG1_ENST00000389467.3_Silent_p.I679I Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 679 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 GGCTACTAGAGATAAAGTGAT 0.338000 3 25 0 0 0.004672 0 0 TMEM117 84216 broad.mit.edu 37 12 44782164 44782164 + Silent SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:44782164G>A ENST00000266534.3 + 8 1381 c.1254G>A c.(1252-1254)ttG>ttA p.L418L TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.L314L|TMEM117_ENST00000546978.1_3'UTR NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 418 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) GACGATTTTTGAAAAATGAGC 0.408000 15 91 0 0 0.004990 0 0 ATP8B4 79895 broad.mit.edu 37 15 50226286 50226286 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:50226286C>A ENST00000284509.6 - 15 1522 c.1381G>T c.(1381-1383)Gat>Tat p.D461Y ATP8B4_ENST00000559829.1_Missense_Mutation_p.D461Y NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 461 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACTTTGGGATCACCCATTTTA 0.418000 10 215 4.68919e-08 6.41527e-08 0.008291 1 0 SH3RF3 344558 broad.mit.edu 37 2 110015211 110015211 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:110015211G>A ENST00000309415.6 + 4 1111 c.1111G>A c.(1111-1113)Gat>Aat p.D371N NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 371 zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 GCGGCGTGTGGATGGCAAGAA 0.607000 4 20 0 0 0.014758 0 0 ACHE 43 broad.mit.edu 37 7 100491143 100491143 + Silent SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:100491143G>T ENST00000302913.4 - 2 849 c.711C>A c.(709-711)gcC>gcA p.A237A ACHE_ENST00000428317.1_Silent_p.A237A|ACHE_ENST00000411582.1_Silent_p.A237A|ACHE_ENST00000419336.2_Silent_p.A237A|ACHE_ENST00000241069.5_Silent_p.A237A|ACHE_ENST00000412389.1_Silent_p.A237A NM_015831.2 NP_056646.1 P22303 ACES_HUMAN acetylcholinesterase 237 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity large_intestine(3)|lung(7)|skin(3)|urinary_tract(3) 16 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CCACCGAGGCGGCTCCCGCGC 0.701000 8 30 1.12685e-05 1.40384e-05 0.004482 1 0 DCBLD1 285761 broad.mit.edu 37 6 117846533 117846533 + Missense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:117846533G>T ENST00000338728.5 + 5 641 c.521G>T c.(520-522)tGc>tTc p.C174F DCBLD1_ENST00000296955.8_Missense_Mutation_p.C174F|DCBLD1_ENST00000368503.4_Missense_Mutation_p.C174F|GOPC_ENST00000467125.1_Intron Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 174 LCCL. cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) AGCAAATTCTGCCCAGCTGGT 0.303000 6 32 0.00116845 0.00131598 0.001168 1 0 EPHA4 2043 broad.mit.edu 37 2 222428866 222428866 + Missense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:222428866G>T ENST00000281821.2 - 3 449 c.408C>A c.(406-408)ttC>ttA p.F136L EPHA4_ENST00000409854.1_Missense_Mutation_p.F136L|EPHA4_ENST00000409938.1_Missense_Mutation_p.F136L|EPHA4_ENST00000392071.4_Missense_Mutation_p.F85L NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 136 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TCTCTCTGATGAAACGCTCTT 0.468000 10 72 0.000673444 0.000766214 0.008291 1 0 RPS27L 51065 broad.mit.edu 37 15 63447831 63447831 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:63447831C>T ENST00000330964.5 - 3 611 c.215G>A c.(214-216)aGa>aAa p.R72K RPS27L_ENST00000559763.1_5'UTR|RPS27L_ENST00000462430.1_Missense_Mutation_p.R88K|RPS27L_ENST00000455271.1_Missense_Mutation_p.R40K|RPS27L_ENST00000439025.1_Missense_Mutation_p.R72K|RPS27L_ENST00000411926.1_Missense_Mutation_p.R40K NM_015920.3 NP_057004.1 Q71UM5 RS27L_HUMAN ribosomal protein S27-like 72 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of anti-apoptosis|translation nucleus|ribosome caspase activator activity|metal ion binding|structural constituent of ribosome|translation activator activity large_intestine(1) 1 TTCTGTGAGTCTGGCCTTTCC 0.413000 7 87 0 0 0.004482 0 0 MUC17 140453 broad.mit.edu 37 7 100683879 100683879 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:100683879C>T ENST00000306151.4 + 3 9246 c.9182C>T c.(9181-9183)cCt>cTt p.P3061L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3061 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P3061H(1) 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) GTGGCCATTCCTGAGGCTAGC 0.498000 13 151 0 0 0.008871 0 0 CHL1 10752 broad.mit.edu 37 3 423942 423942 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:423942G>A ENST00000256509.2 + 17 2599 c.1957G>A c.(1957-1959)Gac>Aac p.D653N CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.D637N NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 637 Fibronectin type-III 1. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AGCTGGAGCTGACCACAACAG 0.413000 4 62 0 0 0.009096 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V 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) 6 14 0.00198382 0.00222307 0.001984 1 0 POP1 10940 broad.mit.edu 37 8 99169980 99169980 + Silent SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:99169980C>T ENST00000401707.2 + 16 2637 c.2556C>T c.(2554-2556)ttC>ttT p.F852F POP1_ENST00000349693.3_Silent_p.F852F NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 852 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) TGGGCCACTTCCCCAGGGCCC 0.647000 4 82 0 0 0.009096 0 0 ACKR2 1238 broad.mit.edu 37 3 42906618 42906618 + Silent SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:42906618C>T ENST00000422265.1 + 3 799 c.624C>T c.(622-624)ctC>ctT p.L208L KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000442925.1_Silent_p.L208L|ACKR2_ENST00000273145.2_Silent_p.L208L|ACKR2_ENST00000471537.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 TTTGGAAGCTCTTCCTCCGCT 0.522000 18 189 0 0 0.012319 0 0 GZMK 3003 broad.mit.edu 37 5 54329714 54329714 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:54329714C>A ENST00000231009.2 + 5 825 c.755C>A c.(754-756)aCt>aAt p.T252N CTD-2313F11.1_ENST00000595218.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 252 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) AAATACCAGACTTGGATCAAA 0.408000 4 58 0.00024832 0.000288413 0.009096 1 0 STRIP1 85369 broad.mit.edu 37 1 110594385 110594385 + Silent SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:110594385G>A ENST00000369795.3 + 20 2164 c.2142G>A c.(2140-2142)ctG>ctA p.L714L STRIP1_ENST00000369796.1_Silent_p.L619L NM_033088.2 NP_149079.2 striatin interacting protein 1 TCTATGTGCTGAAGCTGCTCA 0.532000 8 45 0 0 0.003080 0 0 IL1RL1 9173 broad.mit.edu 37 2 102957269 102957269 + Silent SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:102957269C>A ENST00000311734.2 + 5 930 c.591C>A c.(589-591)acC>acA p.T197T IL1RL1_ENST00000233954.1_Silent_p.T197T|IL1RL1_ENST00000409584.1_Silent_p.T197T|IL1RL1_ENST00000393393.3_Silent_p.T197T|IL1RL1_ENST00000404917.2_Silent_p.T80T Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 197 Ig-like C2-type 2. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TGACGGCGACCAGGTCCTTCA 0.433000 6 102 5.18039e-06 6.6013e-06 0.003080 1 0 INTS8 55656 broad.mit.edu 37 8 95888301 95888301 + Splice_Site SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:95888301G>A ENST00000523731.1 + 24 2821 c.e24-1 INTS8_ENST00000447247.1_Splice_Site NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) TGTTAATGTAGGTGGCCATTT 0.294000 5 78 0 0 0.001984 0 0 PCED1A 64773 broad.mit.edu 37 20 2816935 2816935 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr20:2816935C>A ENST00000360652.2 - 7 1369 c.867G>T c.(865-867)gaG>gaT p.E289D PCED1A_ENST00000356872.3_Missense_Mutation_p.E238D NM_022760.3 NP_073597.2 PC-esterase domain containing 1A GATGATTCATCTCTGCCCAGT 0.567000 12 84 2.27111e-07 3.05095e-07 0.013537 1 0 SEC14L3 266629 broad.mit.edu 37 22 30857437 30857437 + Missense_Mutation SNP A A G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr22:30857437A>G ENST00000403066.1 - 12 1047 c.764T>C c.(763-765)aTc>aCc p.I255T SEC14L3_ENST00000215812.4_Missense_Mutation_p.I314T|SEC14L3_ENST00000415957.2_Missense_Mutation_p.I255T|SEC14L3_ENST00000402286.1_Missense_Mutation_p.I237T|SEC14L3_ENST00000540910.1_Missense_Mutation_p.I237T|SEC14L3_ENST00000539629.1_Missense_Mutation_p.I255T|SEC14L3_ENST00000401751.1_Missense_Mutation_p.I255T Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 314 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TCCGAAGCCGATGTCCGCACC 0.607000 4 47 0 0 0.001168 0 0 BRINP1 1620 broad.mit.edu 37 9 122004361 122004361 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr9:122004361C>A ENST00000265922.3 - 4 1004 c.543G>T c.(541-543)agG>agT p.R181S DBC1_ENST00000373964.2_Missense_Mutation_p.R181S NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 181 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 TCTCATGAAGCCTCCTCATGG 0.507000 5 82 3.59834e-05 4.36103e-05 0.001168 1 0 CSTB 1476 broad.mit.edu 37 21 45194582 45194582 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr21:45194582G>A ENST00000291568.5 - 2 300 c.125C>T c.(124-126)tCa>tTa p.S42L NM_000100.3 NP_000091.1 P04080 CYTB_HUMAN cystatin B (stefin B) 42 cytoplasm|nucleolus cysteine-type endopeptidase inhibitor activity|protease binding lung(1)|prostate(1) 2 STAD - Stomach adenocarcinoma(101;0.168) GCTCTTGAATGACACGGCCTT 0.537000 6 34 0 0 0.001984 0 0 MIEN1 84299 broad.mit.edu 37 17 37885794 37885794 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr17:37885794G>A ENST00000394231.3 - 4 620 c.329C>T c.(328-330)cCt>cTt p.P110L MIEN1_ENST00000577810.1_3'UTR|MIEN1_ENST00000474210.1_5'UTR|ERBB2_ENST00000584888.1_Intron Q9BRT3 CQ037_HUMAN migration and invasion enhancer 1 110 cell redox homeostasis cytosol|membrane selenium binding GACGCAGGGAGGACGGCTGTT 0.557000 14 156 0 0 0.007413 0 0 SYNPO2 171024 broad.mit.edu 37 4 119952472 119952472 + Missense_Mutation SNP A A C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:119952472A>C ENST00000307142.4 + 4 2738 c.2542A>C c.(2542-2544)Aca>Cca p.T848P SYNPO2_ENST00000429713.2_Missense_Mutation_p.T848P|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.T848P NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 848 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AACAGTTTCCACACCAACAGT 0.527000 9 97 0 0 0.004482 0 0 EARS2 124454 broad.mit.edu 37 16 23541066 23541066 + Splice_Site SNP T T A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:23541066T>A ENST00000449606.1 - 6 1251 c.1221_splice c.e6+1 p.Q407_splice EARS2_ENST00000564501.1_Splice_Site_p.Q407_splice|EARS2_ENST00000563232.1_Splice_Site_p.Q407_splice|EARS2_ENST00000563459.1_Splice_Site_p.Q407_splice|EARS2_ENST00000564987.1_5'UTR NM_001083614.1 NP_001077083.1 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 407 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) ACACCACACCTGTCTCAGCAG 0.572000 9 67 0 0 0.004482 0 0 CSMD3 114788 broad.mit.edu 37 8 113323222 113323222 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:113323222C>A ENST00000297405.5 - 50 8114 c.7870G>T c.(7870-7872)Gtc>Ttc p.V2624F CSMD3_ENST00000343508.3_Missense_Mutation_p.V2584F|CSMD3_ENST00000455883.2_Missense_Mutation_p.V2520F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V2554F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2624 Sushi 14. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CAGGCAGGGACTGGCGCATCC 0.433000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 71 8.12818e-05 9.64141e-05 0.001984 1 0 CDADC1 81602 broad.mit.edu 37 13 49841903 49841903 + Missense_Mutation SNP A A G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr13:49841903A>G ENST00000251108.6 + 5 821 c.708A>G c.(706-708)atA>atG p.I236M CDADC1_ENST00000444959.1_Missense_Mutation_p.I38M NM_001193478.1|NM_030911.3 NP_001180407.1|NP_112173.1 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 236 hydrolase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 16 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) AAGAAAGAATAAAAGAATATG 0.294000 5 27 0 0 0.014758 0 0 ZNF717 100131827 broad.mit.edu 37 3 75790824 75790824 + Missense_Mutation SNP C C T rs146969485 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:75790824C>T ENST00000422325.1 - 3 443 c.121G>A c.(121-123)Gat>Aat p.D41N ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000477374.1_Missense_Mutation_p.D41N|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Missense_Mutation_p.D34N NM_001128223.1 NP_001121695.1 C9JSV9 C9JSV9_HUMAN zinc finger protein 717 41 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CTCTGAGCATCATCCAGGTCC 0.527000 3 11 0 0 0.004672 0 0 PRKD3 23683 broad.mit.edu 37 2 37516584 37516584 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:37516584C>T ENST00000379066.1 - 5 1394 c.632G>A c.(631-633)cGt>cAt p.R211H PRKD3_ENST00000234179.2_Missense_Mutation_p.R211H O94806 KPCD3_HUMAN protein kinase D3 211 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) ATTTGACAGACGTCTCTTTCT 0.408000 4 39 0 0 0.014758 0 0 OR6C3 254786 broad.mit.edu 37 12 55725897 55725897 + Missense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:55725897G>T ENST00000379667.1 + 1 413 c.413G>T c.(412-414)tGc>tTc p.C138F NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 AGGAAACTCTGCACTCTACTT 0.473000 21 183 3.5997e-14 5.04863e-14 0.014323 1 0 TRPM6 140803 broad.mit.edu 37 9 77354666 77354666 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr9:77354666C>A ENST00000451710.3 - 33 5709 c.5472G>T c.(5470-5472)gaG>gaT p.E1824D TRPM6_ENST00000361255.3_Missense_Mutation_p.E1815D|TRPM6_ENST00000360774.1_Missense_Mutation_p.E1820D|TRPM6_ENST00000449912.2_Missense_Mutation_p.E1815D|TRPM6_ENST00000376864.4_Missense_Mutation_p.E1824D|TRPM6_ENST00000376871.3_Missense_Mutation_p.E657D|TRPM6_ENST00000376872.3_Missense_Mutation_p.E775D Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1820 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GCACAGTGCTCTCCTGGAAGA 0.473000 17 171 5.3912e-06 6.8309e-06 0.006122 1 0 UBR2 23304 broad.mit.edu 37 6 42600601 42600601 + Nonsense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:42600601G>T ENST00000372901.1 + 13 1762 c.1504G>T c.(1504-1506)Gaa>Taa p.E502* UBR2_ENST00000372883.3_5'UTR|UBR2_ENST00000372899.1_Nonsense_Mutation_p.E502* Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 502 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GAAGTTCCTAGAAGGGTTTGA 0.323000 5 44 0.000602214 0.000692236 0.014758 1 0 OR2C3 81472 broad.mit.edu 37 1 247695110 247695110 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:247695110C>A ENST00000366487.3 - 2 1065 c.704G>T c.(703-705)cGg>cTg p.R235L GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TGCCTTTCTCCGCCCTTCTGC 0.557000 11 82 0.010729 0.0115028 0.010729 1 0 RHBG 57127 broad.mit.edu 37 1 156347138 156347138 + Silent SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:156347138C>T ENST00000400992.2 + 3 395 c.27C>T c.(25-27)ctC>ctT p.L9L RHBG_ENST00000368246.2_Silent_p.L78L|RHBG_ENST00000368249.1_Silent_p.L78L|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000451864.2_Silent_p.L9L|RHBG_ENST00000255013.3_Silent_p.L9L Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 78 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) TTGGCTTCCTCATGGTCTTCC 0.637000 10 118 0 0 0.004990 0 0 DAXX 1616 broad.mit.edu 37 6 33289692 33289692 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:33289692G>A ENST00000374542.5 - 2 215 c.11C>T c.(10-12)gCt>gTt p.A4V DAXX_ENST00000414083.2_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.A4V NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 4 Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GATGCTGTTAGCGGTGGCCAT 0.602000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 12 48 0 0 0.003163 0 0 SYMPK 8189 broad.mit.edu 37 19 46351054 46351054 + Missense_Mutation SNP A A C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:46351054A>C ENST00000245934.7 - 7 876 c.632T>G c.(631-633)aTc>aGc p.I211S NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 211 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GTCCAGGCTGATATCATGCTC 0.597000 6 31 0 0 0.001168 0 0 CAMK4 814 broad.mit.edu 37 5 110710570 110710570 + Missense_Mutation SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:110710570C>T ENST00000282356.4 + 3 661 c.263C>T c.(262-264)aCt>aTt p.T88I CAMK4_ENST00000512453.1_Missense_Mutation_p.T88I NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 88 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) ATCGTAAGAACTGAGATAGGA 0.373000 7 71 0 0 0.001984 0 0 XIRP2 129446 broad.mit.edu 37 2 168105791 168105791 + Missense_Mutation SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:168105791C>G ENST00000409195.1 + 9 7978 c.7889C>G c.(7888-7890)tCc>tGc p.S2630C XIRP2_ENST00000409273.1_Missense_Mutation_p.S2408C|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2630C NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2455 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AACCAACTCTCCACAACATCG 0.448000 12 148 0 0 0.013537 0 0 KCNG1 3755 broad.mit.edu 37 20 49620825 49620825 + Silent SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr20:49620825G>T ENST00000371571.4 - 3 1578 c.1293C>A c.(1291-1293)gtC>gtA p.V431V RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 431 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 TGCTCCTGGGGACCATGTCGC 0.632000 6 77 3.59834e-05 4.36103e-05 0.001168 1 0 WDR96 80217 broad.mit.edu 37 10 105920842 105920842 + Missense_Mutation SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr10:105920842C>G ENST00000357060.3 - 27 3608 c.3493G>C c.(3493-3495)Gag>Cag p.E1165Q WDR96_ENST00000428666.1_Missense_Mutation_p.E1166Q NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1165 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ACTTTTTTCTCATAATCTTTG 0.333000 6 105 0 0 0.001168 0 0 SERPINA3 12 broad.mit.edu 37 14 95085719 95085719 + Silent SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr14:95085719C>T ENST00000553947.1 + 6 1794 c.906C>T c.(904-906)atC>atT p.I302I SERPINA3_ENST00000482740.1_Silent_p.I59I|SERPINA3_ENST00000467132.1_Silent_p.I277I|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Silent_p.I277I|SERPINA3_ENST00000393080.4_Silent_p.I277I P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 277 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) CACTCTTCATCCTCCCTGATC 0.547000 5 14 0 0 0.001168 0 0 TLN2 83660 broad.mit.edu 37 15 62950011 62950011 + Silent SNP C C T rs148402491 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:62950011C>T ENST00000561311.1 + 8 932 c.702C>T c.(700-702)ttC>ttT p.F234F TLN2_ENST00000306829.6_Silent_p.F234F Q9Y4G6 TLN2_HUMAN talin 2 234 FERM. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CTGTCTCCTTCGAGAAAGCTT 0.453000 5 162 0 0 0.014758 0 0 F5 2153 broad.mit.edu 37 1 169526046 169526046 + Missense_Mutation SNP G G T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:169526046G>T ENST00000367796.3 - 6 991 c.790C>A c.(790-792)Cca>Aca p.P264T F5_ENST00000546081.1_Missense_Mutation_p.P127T|F5_ENST00000367797.3_Missense_Mutation_p.P264T P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 264 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.P264T(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AATAATTCTGGCCCCGAGCTC 0.493000 16 35 3.52763e-06 4.54718e-06 0.004990 1 0 MYH3 4621 broad.mit.edu 37 17 10533201 10533201 + Silent SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr17:10533201C>A ENST00000583535.1 - 39 5703 c.5616G>T c.(5614-5616)ctG>ctT p.L1872L MYH3_ENST00000226209.7_Silent_p.L1872L NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1872 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CTTTCACTTGCAGTTTATCCA 0.517000 6 165 0.0135373 0.0144441 0.013537 1 0 ZNF318 24149 broad.mit.edu 37 6 43323078 43323078 + Nonsense_Mutation SNP G G C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:43323078G>C ENST00000361428.2 - 4 2071 c.1994C>G c.(1993-1995)tCa>tGa p.S665* ZNF318_ENST00000318149.3_Nonsense_Mutation_p.S665* NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 665 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCGATCAGCTGAGAAGCAGTG 0.547000 7 116 0 0 0.004482 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766701 77766701 + Missense_Mutation SNP A A G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:77766701A>G ENST00000521891.2 + 10 7992 c.7544A>G c.(7543-7545)cAc>cGc p.H2515R ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2470R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2489R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2470R NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2470 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGCACATGCACTTCCTTGCT 0.483000 HNSCC(33;0.089) 17 215 0 0 0.006122 0 0 PDE4B 5142 broad.mit.edu 37 1 66713200 66713200 + Missense_Mutation SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:66713200C>G ENST00000423207.2 + 2 779 c.294C>G c.(292-294)agC>agG p.S98R PDE4B_ENST00000371049.3_Missense_Mutation_p.S113R|PDE4B_ENST00000329654.4_Missense_Mutation_p.S113R NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 113 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) CCCAGGCCAGCTCTTCCGCTG 0.532000 22 280 0 0 0.014323 0 0 NSUN2 54888 broad.mit.edu 37 5 6611068 6611068 + Splice_Site SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:6611068C>T ENST00000264670.6 - 11 1537 c.1226_splice c.e11+1 p.C409_splice NSUN2_ENST00000539938.1_Splice_Site_p.C173_splice|NSUN2_ENST00000506139.1_Splice_Site_p.C374_splice NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 409 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 ACCAGCTCACCATCGCTCCAG 0.617000 3 29 0 0 0.004672 0 0 TMEM126A 84233 broad.mit.edu 37 11 85367357 85367357 + Missense_Mutation SNP C C G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:85367357C>G ENST00000304511.2 + 5 509 c.400C>G c.(400-402)Caa>Gaa p.Q134E TMEM126A_ENST00000528105.1_Missense_Mutation_p.Q64E|TMEM126A_ENST00000532180.1_Missense_Mutation_p.Q64E NM_032273.3 NP_115649.1 Q9H061 T126A_HUMAN transmembrane protein 126A 134 integral to membrane|mitochondrion breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1) 7 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TTACAGGTATCAATCAGCTCT 0.348000 8 46 0 0 0.006214 0 0 TNFAIP8 25816 broad.mit.edu 37 5 118728517 118728517 + Missense_Mutation SNP C C A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:118728517C>A ENST00000504771.2 + 2 1815 c.38C>A c.(37-39)aCa>aAa p.T13K TNFAIP8_ENST00000513374.1_Missense_Mutation_p.T25K|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.T3K|TNFAIP8_ENST00000503646.1_Missense_Mutation_p.T13K|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.T15K NM_014350.2 NP_055165.2 O95379 TFIP8_HUMAN tumor necrosis factor, alpha-induced protein 8 13 anti-apoptosis|apoptosis|negative regulation of anti-apoptosis cytoplasm caspase inhibitor activity|protein binding ovary(1) 1 all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231) Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829) TTAGTGGCCACAGATGTCTTT 0.373000 3 2 0.00909568 0.00979873 0.009096 1 0 SCN8A 6334 broad.mit.edu 37 12 52163071 52163071 + Silent SNP C C T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:52163071C>T ENST00000354534.5 + 17 3502 c.3324C>T c.(3322-3324)ctC>ctT p.L1108L SCN8A_ENST00000545061.1_Silent_p.L1108L NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1108 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TTGAGAACCTCAACACAGAGG 0.498000 4 38 0 0 0.009096 0 0 TCF7L2 6934 broad.mit.edu 37 10 114925376 114925376 + Nonsense_Mutation SNP C C G rs61724286 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr10:114925376C>G ENST00000355995.4 + 15 2012 c.1505C>G c.(1504-1506)tCa>tGa p.S502* TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000536810.1_Nonsense_Mutation_p.S485*|TCF7L2_ENST00000543371.1_Nonsense_Mutation_p.S485*|TCF7L2_ENST00000542695.1_Nonsense_Mutation_p.S218*|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000538897.1_Missense_Mutation_p.Q478E|TCF7L2_ENST00000369389.1_Missense_Mutation_p.Q172E|TCF7L2_ENST00000355717.4_Missense_Mutation_p.Q485E|TCF7L2_ENST00000369397.4_Nonsense_Mutation_p.S479*|TCF7L2_ENST00000545257.1_Nonsense_Mutation_p.S502* Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 502 Promoter-specific activation domain. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) CCACCCTCTTCAGATGGAAGC 0.557000 T VTI1A colorectal 14 117 0 0 0.004990 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73178124 73178124 + Missense_Mutation SNP G G A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:73178124G>A ENST00000286657.4 - 13 1841 c.1805C>T c.(1804-1806)aCa>aTa p.T602I NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 602 TSP type-1 1. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCATTCTTCTGTGTTACAAAG 0.433000 7 55 0 0 0.001984 0 0 LINC01389 102724077 broad.mit.edu 37 1 47848450 47848453 + RNA DEL TTTC TTTC - rs60232789 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:47848450_47848453delTTTC ENST00000420876.1 - 0 267 tttcttttcttttctttttttttt 0.363 2 4 --- --- --- --- RP11-466L17.1 0 broad.mit.edu 37 1 56050062 56050063 + RNA INS - - C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:56050062_56050063insC ENST00000422374.1 + 0 158 ATGAATGACGGCCCCTGAAAGT 0.495 2 4 --- --- --- --- GNG12-AS1 100289178 broad.mit.edu 37 1 68410018 68410018 + RNA DEL A A - rs35608379 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:68410018delA ENST00000420587.1 + 0 134 GNG12-AS1_ENST00000413628.1_RNA NR_040077.1 Q6ZVV5 Q6ZVV5_HUMAN gctaaaatacaaaaaaaaaat 0.522 2 4 --- --- --- --- RP5-965F6.2 0 broad.mit.edu 37 1 112800581 112800581 + RNA DEL A A - rs36056640 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:112800581delA ENST00000427290.1 - 0 167 gctccatctcaaaaaaaaaaa 0.502 2 4 --- --- --- --- SLC16A1-AS1 100506392 broad.mit.edu 37 1 113513439 113513440 + RNA INS - - C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:113513439_113513440insC ENST00000435800.2 + 0 627 CTACCCCATTTCCCCCTGCACA 0.446 2 4 --- --- --- --- LOC101928995 101928995 broad.mit.edu 37 1 116462257 116462258 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:116462257_116462258insG ENST00000438885.1 + 0 184 gagggaaatttggggggcagct 0.505 2 4 --- --- --- --- AL592494.5 0 broad.mit.edu 37 1 121168622 121168623 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:121168622_121168623insA ENST00000417218.1 + 0 551 RP11-343N15.2_ENST00000445260.2_lincRNA caggctctaccaaaaaaaaaaa 0.480 3 3 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142623788 142623788 + RNA DEL T T - rs149122083 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:142623788delT ENST00000369381.2 - 0 5218 RP11-417J8.3_ENST00000426408.1_lincRNA TGGGTTCTGGTTTTAGCACGT 0.438 9 5 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142642817 142642818 + RNA INS - - T rs71249303 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:142642817_142642818insT ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA GTTTTCTTGGGTTTTTTTTTTT 0.342 5 8 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143161966 143161966 + RNA DEL G G - rs61786873 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:143161966delG ENST00000412204.2 - 0 2503 RP11-782C8.1_ENST00000438000.1_lincRNA|RP11-782C8.4_ENST00000424474.2_lincRNA aggaAGAGACgggagaaaagt 0.388 4 9 --- --- --- --- LOC101928979 101928979 broad.mit.edu 37 1 145381924 145381925 + RNA INS - - AAAAAAAA rs34675346 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:145381924_145381925insAAAAAAAA ENST00000419817.1 - 0 307 gactccgtctcaaaaaaaaaaa 0.490 2 4 --- --- --- --- FMO9P 116123 broad.mit.edu 37 1 166583114 166583114 + RNA DEL G G - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:166583114delG ENST00000477875.1 + 0 552 NR_002925.2 ttaaataagtggtcatgaaaa 0.318 2 4 --- --- --- --- RP1-15D23.2 0 broad.mit.edu 37 1 172793201 172793201 + RNA DEL G G - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:172793201delG ENST00000432694.1 + 0 223 ccatgtctgtgagttgggttc 0.413 4 2 --- --- --- --- LOC102724601 102724601 broad.mit.edu 37 1 174104835 174104835 + RNA DEL T T - rs75165126 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:174104835delT ENST00000426899.1 - 0 338 aagttgctcctcctaaaattt 0.388 4 2 --- --- --- --- LOC730102 730102 broad.mit.edu 37 1 178004395 178004396 + RNA INS - - T rs71949629 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:178004395_178004396insT ENST00000476232.1 - 0 162 CTTACTGAGGAttttttttttt 0.470 3 4 --- --- --- --- LINC01031 101929184 broad.mit.edu 37 1 193296672 193296672 + RNA DEL C C - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:193296672delC ENST00000420807.1 + 0 194 tatttccctaccccactcccc 0.363 2 4 --- --- --- --- LINC01031 101929184 broad.mit.edu 37 1 193300055 193300056 + RNA INS - - A rs58921440 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:193300055_193300056insA ENST00000420807.1 + 0 194 ttttcaaaaaccagtacttcat 0.292 6 5 --- --- --- --- CTD-2090I13.1 0 broad.mit.edu 37 1 227589267 227589268 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:227589267_227589268insG ENST00000445817.1 + 0 210 tggccagaggcggggggaaaac 0.579 3 5 --- --- --- --- RP11-518L10.5 0 broad.mit.edu 37 1 244570145 244570145 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr1:244570145delA ENST00000417765.1 - 0 157 ctactgaaggaaataaagaca 0.378 2 4 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12281761 12281762 + RNA INS - - C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:12281761_12281762insC ENST00000412294.1 + 0 197 ACAAAATGCAGCCCCCCCATAA 0.431 3 4 --- --- --- --- LINC00276 100499171 broad.mit.edu 37 2 14525600 14525605 + RNA DEL ACACAC ACACAC - rs72278719 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:14525600_14525605delACACAC ENST00000418420.1 - 0 116 NR_103814.1 acatacacatacacacacacacacac 0.398 3 3 --- --- --- --- AC010880.1 0 broad.mit.edu 37 2 16564202 16564202 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:16564202delT ENST00000427950.1 + 0 83 agtttgtgtcttttttttttc 0.284 2 4 --- --- --- --- AC012593.1 0 broad.mit.edu 37 2 35258363 35258364 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:35258363_35258364insT ENST00000588944.1 + 0 115 tttcctgtgccttttggttgta 0.450 3 5 --- --- --- --- SLC8A1-AS1 100128590 broad.mit.edu 37 2 40283342 40283343 + RNA INS - - G rs139627901 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:40283342_40283343insG ENST00000439606.1 + 0 249 SLC8A1-AS1_ENST00000418854.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA aatgacttgccggggggaataa 0.386 2 4 --- --- --- --- AC007317.1 0 broad.mit.edu 37 2 40987092 40987093 + RNA DEL AA AA - rs57636926 byFrequency TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:40987092_40987093delAA ENST00000420187.1 + 0 312 acacacacacaaacacacacac 0.351 2 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59656177 59656177 + RNA DEL C C - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:59656177delC ENST00000606382.1 - 0 433 CTGTTAATGGCCCCAGGGACC 0.393 2 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60196405 60196414 + RNA DEL TCCTACTCTA TCCTACTCTA - rs70957447 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:60196405_60196414delTCCTACTCTA ENST00000606382.1 - 0 110 AATGTGTTTCTCCTACTCTATCTTTTATTC 0.433 3 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60283597 60283598 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:60283597_60283598insG ENST00000606382.1 - 0 110 caaggtcccacggggggttgaa 0.460 2 4 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89075573 89075582 + RNA DEL GGTCCTATTT GGTCCTATTT - rs5832741 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:89075573_89075582delGGTCCTATTT ENST00000393525.3 + 0 401 ATCCTTCTGGGGTCCTATTTGGTCCTTTCG 0.386 4 4 --- --- --- --- SULT1C2P1 151234 broad.mit.edu 37 2 108955195 108955195 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:108955195delA ENST00000427208.1 + 0 445 NR_037191.1 taaaaTAAAGAAAAAAAAGAA 0.308 2 4 --- --- --- --- LOC100506797 100506797 broad.mit.edu 37 2 118907891 118907892 + RNA INS - - T rs140754322 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:118907891_118907892insT ENST00000414886.1 - 0 533 ACTTGATTTAATTTTTTTTCAA 0.396 2 4 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 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 5 1 --- --- --- --- AC023469.2 0 broad.mit.edu 37 2 151843065 151843066 + RNA INS - - C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:151843065_151843066insC ENST00000425983.1 + 0 10 gctgctccctgcccccacccca 0.540 2 4 --- --- --- --- AC018731.3 0 broad.mit.edu 37 2 152020960 152020960 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:152020960delA ENST00000447078.1 - 0 90 tacagcttataagcacttggc 0.428 2 4 --- --- --- --- AC009478.1 0 broad.mit.edu 37 2 181504572 181504573 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:181504572_181504573insA ENST00000429816.1 - 0 225 aggaatacaacaaaaaacatca 0.297 2 4 --- --- --- --- SSFA2 6744 broad.mit.edu 37 2 182756993 182756994 + Frame_Shift_Ins INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:182756993_182756994insG ENST00000431877.2 + 1 379_380 c.200_201insG c.(199-201)gggfs p.G67fs SSFA2_ENST00000428267.2_5'UTR|SSFA2_ENST00000320370.7_Frame_Shift_Ins_p.G67fs|SSFA2_ENST00000409001.1_Frame_Shift_Ins_p.G67fs NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 67 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) CTGCCGGCAGCGGGGGGAAGAG 0.723 2 4 --- --- --- --- LINC01473 101927217 broad.mit.edu 37 2 186936625 186936625 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:186936625delA ENST00000456653.2 - 0 167 ccaaaggcagaaaaaaaaaaa 0.413 2 4 --- --- --- --- AC019330.1 0 broad.mit.edu 37 2 199594334 199594335 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:199594334_199594335insT ENST00000440609.1 - 0 98 gtttttctttctttttttctat 0.406 2 4 --- --- --- --- AC018717.1 0 broad.mit.edu 37 2 199813621 199813621 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:199813621delA ENST00000456031.1 - 0 114 attagtccagaaacaaatgag 0.398 2 4 --- --- --- --- AC007879.5 0 broad.mit.edu 37 2 208135352 208135352 + RNA DEL C C - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:208135352delC ENST00000412387.1 - 0 315 AC007879.6_ENST00000438824.1_lincRNA ctgatattttcttatagcagc 0.423 2 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217589782 217589782 + RNA DEL A A - rs113192629 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:217589782delA ENST00000447289.1 + 0 388 tccatctcggaaaaaaaaaaa 0.502 2 4 --- --- --- --- AC067956.1 0 broad.mit.edu 37 2 221496746 221496747 + RNA INS - - T rs138897046 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:221496746_221496747insT ENST00000414512.1 + 0 550 TAATTATGTGGTTTTTTTCTCT 0.272 2 4 --- --- --- --- LINC01237 101927289 broad.mit.edu 37 2 242892262 242892263 + RNA DEL TG TG - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr2:242892262_242892263delTG ENST00000430555.1 + 0 329 AC131097.3_ENST00000457686.1_RNA|AC131097.3_ENST00000415434.1_RNA|AC131097.3_ENST00000439601.1_RNA|AC131097.3_ENST00000429947.1_RNA AGCGTGTCCCtgtgtgtgtgtg 0.574 2 4 --- --- --- --- LINC01266 101927215 broad.mit.edu 37 3 781710 781710 + RNA DEL T T - rs35173635 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:781710delT ENST00000420823.1 + 0 176 tctctcttgctcgctcactca 0.323 6 5 --- --- --- --- AC026188.1 0 broad.mit.edu 37 3 3472232 3472234 + RNA DEL TTG TTG - rs35588614 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:3472232_3472234delTTG ENST00000455703.1 - 0 59 tgttctgcaattgttgttggaaa 0.433 5 3 --- --- --- --- LMCD1-AS1 100288428 broad.mit.edu 37 3 8403840 8403840 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:8403840delT ENST00000420095.1 - 0 571 LMCD1-AS1_ENST00000452802.1_RNA|LMCD1-AS1_ENST00000446281.1_RNA NR_033378.1 TCAAATAGGATTTTTTTTTTT 0.398 3 3 --- --- --- --- SATB1-AS1 101927777 broad.mit.edu 37 3 18934577 18934578 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:18934577_18934578insG ENST00000425799.2 + 0 463 ATAGTGAGGTTGGGGGGATTCC 0.366 2 4 --- --- --- --- AC133680.1 0 broad.mit.edu 37 3 24904188 24904189 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:24904188_24904189insG ENST00000455576.1 + 0 345 aagtatccactgggggtcttgg 0.351 2 4 --- --- --- --- ENTPD3-AS1 285266 broad.mit.edu 37 3 40426834 40426835 + RNA DEL TG TG - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:40426834_40426835delTG ENST00000439293.1 - 0 143 tgtgtgtgtctgtgtgtgtgtg 0.406 3 5 --- --- --- --- SUCLG2-AS1 101927111 broad.mit.edu 37 3 67796200 67796201 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:67796200_67796201insA ENST00000482677.1 + 0 615 GTGGTCACTACAAAAAAAAATG 0.361 2 4 --- --- --- --- ZNF717 100131827 broad.mit.edu 37 3 75786761 75786761 + Frame_Shift_Del DEL C C - rs145576551 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:75786761delC ENST00000478296.1 - 4 2139 c.1863delG c.(1861-1863)ggfs p.G621fs ZNF717_ENST00000400845.3_Frame_Shift_Del_p.G664fs|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000422325.1_Frame_Shift_Del_p.G671fs|ZNF717_ENST00000491507.1_Intron C9JSV9 C9JSV9_HUMAN zinc finger protein 717 671 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 TACGGTTTTTCCCCGTGTGAG 0.408 2 4 --- --- --- --- LINC00635 151658 broad.mit.edu 37 3 107565409 107565409 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:107565409delA ENST00000464359.2 - 0 1105 NR_015414.1 TTAGCATCGGAAAAGCCCCTT 0.483 OREG0015701 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- LOC101927056 101927056 broad.mit.edu 37 3 125595457 125595458 + RNA INS - - T rs151323894 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:125595457_125595458insT ENST00000468859.1 - 0 1456 GACAGGGTTCCTCCCCTCAAAA 0.505 3 3 --- --- --- --- PBX2P1 5088 broad.mit.edu 37 3 142895210 142895211 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:142895210_142895211insG ENST00000560287.1 + 0 84_85 AGGCGGGGCCCGGGGGGGGCCT 0.762 3 6 --- --- --- --- RP11-23D24.2 0 broad.mit.edu 37 3 153295089 153295089 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:153295089delA ENST00000493214.2 - 0 260 GCCACAGCTTAAAAGATGAGT 0.388 2 4 --- --- --- --- TMEM212-AS1 100874219 broad.mit.edu 37 3 171602533 171602533 + RNA DEL T T - rs35261388 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:171602533delT ENST00000449106.1 - 0 382 cttttttctcttttttttttt 0.408 3 5 --- --- --- --- LINC00578 100505566 broad.mit.edu 37 3 177401030 177401030 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:177401030delT ENST00000442937.1 + 0 428 NR_047568.1 TTCTTATCACTTTGAACCAAC 0.378 2 4 --- --- --- --- LOC100507391 100507391 broad.mit.edu 37 3 194495369 194495369 + RNA DEL T T - rs59165142 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:194495369delT ENST00000423318.1 + 0 940 NR_037891.1 ttttctttccttttttttttt 0.408 3 5 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 3 5 --- --- --- --- ZNF718 255403 broad.mit.edu 37 4 129821 129821 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:129821delT ENST00000510175.1 + 0 136 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) GCTGATGAGATTACCTCTGCT 0.368 2 4 --- --- --- --- CTBP1-AS2 92070 broad.mit.edu 37 4 1260132 1260133 + RNA DEL AC AC - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:1260132_1260133delAC ENST00000578730.1 + 0 2372 aCACACCTATACACACACACAC 0.450 2 4 --- --- --- --- LOC101929019 101929019 broad.mit.edu 37 4 12230160 12230161 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:12230160_12230161insA ENST00000505386.1 + 0 147 cttattctagcaacagaataca 0.381 2 4 --- --- --- --- TAPT1-AS1 202020 broad.mit.edu 37 4 16254680 16254680 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:16254680delA ENST00000570786.1 + 0 234 TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA NR_027696.1 caaatctgataaaaaaaaaat 0.423 2 4 --- --- --- --- TAPT1-AS1 202020 broad.mit.edu 37 4 16256491 16256496 + RNA DEL TTGTTG TTGTTG - rs36206850 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:16256491_16256496delTTGTTG ENST00000570786.1 + 0 234 TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA NR_027696.1 ACGAGGTTTTttgttgttgttgttgt 0.490 4 2 --- --- --- --- SLC34A2 10568 broad.mit.edu 37 4 25671423 25671425 + In_Frame_Del DEL CTG CTG - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:25671423_25671425delCTG ENST00000382051.3 + 7 840_842 c.790_792delCTG c.(790-792)del p.L264del SLC34A2_ENST00000504570.1_In_Frame_Del_p.L263del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.L263del NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 264 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) CCCAGATCTTCTGAAAGTCATCA 0.493 T ROS1 NSCLC 19 190 --- --- --- --- LOC101928622 101928622 broad.mit.edu 37 4 33883559 33883559 + RNA DEL C C - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:33883559delC ENST00000506650.1 + 0 57 agggaatatacccagatctta 0.413 2 4 --- --- --- --- RP11-625I7.1 0 broad.mit.edu 37 4 78401200 78401201 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:78401200_78401201insA ENST00000513871.1 - 0 122 ctggatagaacaaaaaggcaga 0.426 2 4 --- --- --- --- LINC01088 100505875 broad.mit.edu 37 4 80015183 80015183 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:80015183delA ENST00000509088.1 + 0 349 RP11-438E5.1_ENST00000513153.1_RNA|RP11-438E5.1_ENST00000510667.1_RNA NR_038342.1 ttaagtgtctaatacattatt 0.318 2 4 --- --- --- --- FAM13A-AS1 285512 broad.mit.edu 37 4 89638525 89638526 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:89638525_89638526insT ENST00000500765.1 + 0 640 NR_002806.2 gctgattggagtttttttctct 0.386 2 4 --- --- --- --- LOC100507053 100507053 broad.mit.edu 37 4 100116939 100116940 + RNA INS - - T rs113460633 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:100116939_100116940insT ENST00000500358.2 + 0 3714 RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA NR_037884.1 TCAGGATATAAttttttttttt 0.436 3 5 --- --- --- --- LOC256880 256880 broad.mit.edu 37 4 100979806 100979806 + RNA DEL G G - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:100979806delG ENST00000515026.1 + 0 729 TAATCAGTGTGGAAAAAGGTT 0.438 2 4 --- --- --- --- RP11-297P16.3 0 broad.mit.edu 37 4 104505224 104505224 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:104505224delT ENST00000502936.1 + 0 189 RP11-297P16.3_ENST00000512401.1_RNA tttttatgcatttgtctttta 0.294 2 4 --- --- --- --- LOC101929468 101929468 broad.mit.edu 37 4 105525174 105525174 + RNA DEL T T - rs58379600 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:105525174delT ENST00000500179.1 + 0 96 tggaatgttctttgtgtgtct 0.413 3 3 --- --- --- --- LOC101929468 101929468 broad.mit.edu 37 4 105538437 105538438 + RNA DEL TT TT - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:105538437_105538438delTT ENST00000500179.1 + 0 96 tgaatctttctttttttttttt 0.322 2 4 --- --- --- --- LEF1-AS1 641518 broad.mit.edu 37 4 109098849 109098850 + RNA DEL TG TG - rs34287601 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:109098849_109098850delTG ENST00000507799.1 + 0 360 LEF1-AS1_ENST00000512129.1_RNA cacacacacatgcacacacaca 0.530 2 4 --- --- --- --- CTD-2325B11.1 0 broad.mit.edu 37 4 125081541 125081541 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:125081541delA ENST00000507299.1 - 0 262 TATTATGAGTAATTGCTTTTT 0.279 2 4 --- --- --- --- RP11-404I7.2 0 broad.mit.edu 37 4 133859999 133859999 + RNA DEL C C - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:133859999delC ENST00000509628.1 - 0 32 tgtgttgctgcctacactcgg 0.473 2 4 --- --- --- --- RP11-284M14.1 0 broad.mit.edu 37 4 143920028 143920028 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:143920028delA ENST00000507826.1 - 0 354 atgaagtcataaaggaagaca 0.363 2 4 --- --- --- --- RP11-284M14.1 0 broad.mit.edu 37 4 144043634 144043635 + RNA INS - - T rs35768669 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:144043634_144043635insT ENST00000507826.1 - 0 354 cccaatcaggcttttttttttt 0.416 2 4 --- --- --- --- RP11-526A4.1 0 broad.mit.edu 37 4 150615697 150615698 + RNA DEL CA CA - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:150615697_150615698delCA ENST00000511993.1 - 0 763 RP11-707F2.1_ENST00000505781.1_lincRNA CCCCTCCTTCCACACACACACA 0.356 2 4 --- --- --- --- RP11-6C14.1 0 broad.mit.edu 37 4 160670071 160670073 + RNA DEL AGA AGA - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:160670071_160670073delAGA ENST00000513718.1 - 0 115 gccaatatccagaaggtttttct 0.414 5 3 --- --- --- --- LOC90768 90768 broad.mit.edu 37 4 182908948 182908951 + RNA DEL TTTT TTTT - rs139719737 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:182908948_182908951delTTTT ENST00000507869.1 - 0 512 AC108142.1_ENST00000509012.1_RNA GAGAGATATCTTTTCTTTCTGGAT 0.373 4 5 --- --- --- --- LINC01060 401164 broad.mit.edu 37 4 189455200 189455201 + RNA DEL TA TA - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr4:189455200_189455201delTA ENST00000510832.1 + 0 617 CCCTTTGACTTATCTTTCATGG 0.490 2 4 --- --- --- --- RP11-445O3.1 0 broad.mit.edu 37 5 4516439 4516442 + RNA DEL ACAC ACAC - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:4516439_4516442delACAC ENST00000503188.1 + 0 1226_1229 RP11-445O3.2_ENST00000507435.1_lincRNA CGCATGAGCAacacacacacacac 0.377 2 4 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21521168 21521168 + RNA DEL A A - rs11367557 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:21521168delA ENST00000607545.1 + 0 314 NR_027026.1 gcccttttgcaggctgcagac 0.448 2 4 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21534245 21534246 + RNA INS - - TG rs143137704 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:21534245_21534246insTG ENST00000607545.1 + 0 314 NR_027026.1 GCAGGTGTGTCTGTCACAAACA 0.520 4 7 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21558318 21558322 + RNA DEL GTTTA GTTTA - rs2354609 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:21558318_21558322delGTTTA ENST00000607545.1 + 0 314 NR_027026.1 TCCGTTGGTTGTTTAGTTTATTCCT 0.346 6 7 --- --- --- --- CTD-2066L21.3 0 broad.mit.edu 37 5 33294705 33294706 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:33294705_33294706insA ENST00000510327.1 - 0 179 ggtcaaattacaaaaactaaag 0.262 2 4 --- --- --- --- LIFR-AS1 100506495 broad.mit.edu 37 5 38595830 38595832 + RNA DEL TTT TTT - rs70978897 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:38595830_38595832delTTT ENST00000500733.2 + 0 2540 LIFR-AS1_ENST00000500817.2_RNA NR_037423.1|NR_103553.1 ACAATAGGTCttttttttttttt 0.453 2 4 --- --- --- --- LOC100506674 100506674 broad.mit.edu 37 5 44800185 44800186 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:44800185_44800186insT ENST00000503179.1 - 0 118 RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA TGAATTCTTGATTTTTTTTCTC 0.396 2 4 --- --- --- --- CTD-2288O8.1 0 broad.mit.edu 37 5 52013870 52013871 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:52013870_52013871insT ENST00000502995.1 - 0 167 attcctttatgtttttttaatg 0.332 2 4 --- --- --- --- CTC-365E16.1 0 broad.mit.edu 37 5 71657269 71657270 + RNA INS - - C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:71657269_71657270insC ENST00000606310.1 + 0 753_754 acacatagcttccccacagcat 0.495 2 4 --- --- --- --- CTD-2269F5.1 0 broad.mit.edu 37 5 83764635 83764636 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:83764635_83764636insG ENST00000509406.1 + 0 458 CCATTTCTTCTGGGGGAAAACA 0.342 2 4 --- --- --- --- RP11-133F8.2 0 broad.mit.edu 37 5 91951345 91951346 + RNA DEL AG AG - rs34141820 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:91951345_91951346delAG ENST00000512210.1 - 0 52 TATGGAAGAAAGCATTAGATGT 0.446 2 4 --- --- --- --- CTD-2337A12.1 0 broad.mit.edu 37 5 95309708 95309709 + RNA DEL CA CA - rs113896907 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:95309708_95309709delCA ENST00000511775.1 + 0 35 CTD-2337A12.1_ENST00000502645.2_RNA|AC008592.7_ENST00000506070.1_lincRNA AATTTGcacgcacacacacaca 0.450 3 3 --- --- --- --- SLC27A6 28965 broad.mit.edu 37 5 128070443 128070443 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:128070443delA ENST00000514867.1 + 0 69 ggttttacctaaaaccgccac 0.398 2 4 --- --- --- --- NPY6R 4888 broad.mit.edu 37 5 137138924 137138925 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:137138924_137138925insA ENST00000510937.1 + 0 260 NR_002713.3 AAATGGTAAGGAAAAAAACAGA 0.371 2 4 --- --- --- --- CTB-57H20.1 0 broad.mit.edu 37 5 143092225 143092225 + RNA DEL A A - rs78849212 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:143092225delA ENST00000503323.1 + 0 379 CAATTCGGAGAAAAAAAAGGA 0.423 4 5 --- --- --- --- RP11-541P9.3 0 broad.mit.edu 37 5 162453166 162453166 + RNA DEL G G - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:162453166delG ENST00000458002.2 - 0 424 tgataggataggtagagagaa 0.423 2 4 --- --- --- --- RP11-541P9.3 0 broad.mit.edu 37 5 162531461 162531461 + RNA DEL C C - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:162531461delC ENST00000509211.1 - 0 117 RP11-541P9.3_ENST00000458002.2_RNA ATTTTTCCCTCCTTGCGAGTT 0.393 2 4 --- --- --- --- RP11-541P9.3 0 broad.mit.edu 37 5 162757780 162757781 + RNA DEL AA AA - rs145791371 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:162757780_162757781delAA ENST00000503504.1 - 0 355 RP11-541P9.3_ENST00000458002.2_RNA actctgtctcaaaaaaaaaaaa 0.450 2 4 --- --- --- --- LOC102546299 102546299 broad.mit.edu 37 5 163735211 163735211 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:163735211delT ENST00000524297.1 + 0 228 CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000522686.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000523648.1_RNA ATATAACTGCTTTTTTTTTTG 0.313 2 4 --- --- --- --- CTC-535M15.2 0 broad.mit.edu 37 5 164986979 164986979 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:164986979delT ENST00000522189.1 + 0 21 ggtgtggtggtttccttctgt 0.443 2 4 --- --- --- --- LINC01187 100507267 broad.mit.edu 37 5 169625470 169625475 + RNA DEL ATTCCT ATTCCT - rs10581962 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:169625470_169625475delATTCCT ENST00000506431.2 - 0 670_675 cagtggttgaattcctattcctcaag 0.417 2 4 --- --- --- --- CTD-2532K18.1 0 broad.mit.edu 37 5 174245012 174245013 + RNA DEL GT GT - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:174245012_174245013delGT ENST00000502684.1 + 0 50 ttataatatggtgtgtgtgtgt 0.431 3 4 --- --- --- --- AACSP1 729522 broad.mit.edu 37 5 178202083 178202084 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr5:178202083_178202084insG ENST00000503486.2 - 0 852 NR_024035.1 GCACACCAGCCGGGGGGCGGTG 0.634 2 4 --- --- --- --- RP11-532F6.4 0 broad.mit.edu 37 6 733501 733501 + RNA DEL T T - rs137899133 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:733501delT ENST00000607644.1 + 0 243 AGGGAAGCTATTTTTTTTTTT 0.353 2 4 --- --- --- --- LY86-AS1 285780 broad.mit.edu 37 6 6430459 6430460 + RNA INS - - AAAC rs70975978 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:6430459_6430460insAAAC ENST00000435641.1 - 0 639 LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000447858.1_RNA taaaaaaatcaaaacaaacaaa 0.351 7 1 --- --- --- --- RP11-146I2.1 0 broad.mit.edu 37 6 15059048 15059049 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:15059048_15059049insT ENST00000437648.1 - 0 426 aaataacattcttttttttttt 0.416 3 4 --- --- --- --- RP1-167F1.2 0 broad.mit.edu 37 6 19749646 19749646 + RNA DEL T T - rs35027296 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:19749646delT ENST00000432171.2 - 0 263 RP3-471C18.2_ENST00000424083.1_lincRNA AATTGGATTATTTTTTTTTTA 0.373 2 4 --- --- --- --- RP11-239H6.2 0 broad.mit.edu 37 6 20300667 20300668 + RNA DEL AC AC - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:20300667_20300668delAC ENST00000449143.2 + 0 191 tactaaaagtacacacacacac 0.515 3 3 --- --- --- --- RP1-209A6.1 0 broad.mit.edu 37 6 22810339 22810340 + RNA DEL CA CA - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:22810339_22810340delCA ENST00000420572.2 - 0 197 TACACACACGCACACACACACA 0.416 2 4 --- --- --- --- HCG20 414774 broad.mit.edu 37 6 30755440 30755440 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:30755440delA ENST00000439406.1 + 0 127 tgtctctactaaaagtacaaa 0.562 6 0 --- --- --- --- RP1-90K10.4 0 broad.mit.edu 37 6 36911291 36911291 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:36911291delA ENST00000427609.2 - 0 204 tctcaggaataaaaaaaaaaa 0.303 4 1 --- --- --- --- GSTA9P 100174857 broad.mit.edu 37 6 52807920 52807920 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:52807920delT ENST00000448991.1 - 0 230 CCAAGAATGGttttttttttt 0.507 3 2 --- --- --- --- RP11-154D6.1 0 broad.mit.edu 37 6 72027450 72027453 + RNA DEL ACAG ACAG - rs72450664 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:72027450_72027453delACAG ENST00000589255.1 - 0 240 RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000590780.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000590213.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000585945.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587015.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000434683.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA tataccaataacagacagacagcc 0.343 4 3 --- --- --- --- LOC101928516 101928516 broad.mit.edu 37 6 74849495 74849496 + RNA INS - - CC TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:74849495_74849496insCC ENST00000435946.1 + 0 138 catctggcattcccccctgctt 0.455 2 4 --- --- --- --- LOC101927640 101927640 broad.mit.edu 37 6 112629375 112629376 + RNA INS - - C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:112629375_112629376insC ENST00000587816.1 + 0 111 RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA ATTTCTCACTGCCCCCCCTTCC 0.535 4 2 --- --- --- --- LINC00271 100131814 broad.mit.edu 37 6 135978766 135978768 + RNA DEL CTT CTT - rs35786994 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:135978766_135978768delCTT ENST00000421378.2 + 0 231 NR_026805.1 GTCCCAAACACTTCTTGATGATT 0.360 5 2 --- --- --- --- STXBP5-AS1 729178 broad.mit.edu 37 6 147256043 147256044 + RNA DEL AC AC - rs72302896 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr6:147256043_147256044delAC ENST00000367477.3 - 0 695 STXBP5-AS1_ENST00000427394.1_RNA|STXBP5-AS1_ENST00000458125.1_RNA|STXBP5-AS1_ENST00000431143.1_RNA|STXBP5-AS1_ENST00000447072.1_RNA TCACAAGAATacacacacacac 0.332 3 3 --- --- --- --- AC004485.3 0 broad.mit.edu 37 7 24261254 24261255 + RNA INS - - ACTT rs60472694 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:24261254_24261255insACTT ENST00000439839.1 - 0 159 tccagaaactgacttatacaca 0.416 4 2 --- --- --- --- LOC646588 646588 broad.mit.edu 37 7 25699193 25699193 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:25699193delA ENST00000446840.1 - 0 370 CAGTACCTGGAAAAATTAAGG 0.358 2 4 --- --- --- --- AC006380.1 0 broad.mit.edu 37 7 31356656 31356660 + RNA DEL AAAAG AAAAG - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:31356656_31356660delAAAAG ENST00000408824.1 + 0 45_49 ttttgccattaaaagaaatgtcaaa 0.380 3 6 --- --- --- --- RP11-340I6.7 0 broad.mit.edu 37 7 63353878 63353878 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:63353878delT ENST00000587736.1 - 0 566 CTGCAAGATATCCACCTGGAT 0.383 8 112 --- --- --- --- RP5-945F2.3 0 broad.mit.edu 37 7 67651964 67651965 + RNA INS - - T rs71074110 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:67651964_67651965insT ENST00000446187.1 - 0 317 ttgttcttctattttttttttt 0.312 3 6 --- --- --- --- COL26A1 136227 broad.mit.edu 37 7 101104589 101104590 + RNA INS - - T rs143066422 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:101104589_101104590insT ENST00000313669.7 + 0 577 COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 CCTCCTCCttctttttttttga 0.540 3 2 --- --- --- --- COL26A1 136227 broad.mit.edu 37 7 101133981 101133982 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:101133981_101133982insA ENST00000313669.7 + 0 577 COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 gactctatctcaaaaaaaaaGG 0.540 2 4 --- --- --- --- LINC01392 104355291 broad.mit.edu 37 7 114858990 114858991 + RNA INS - - TCTC rs146707020 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:114858990_114858991insTCTC ENST00000419883.1 - 0 173 TGAGATCTCTTTCTCTTTCTCT 0.391 4 5 --- --- --- --- AC008060.8 0 broad.mit.edu 37 7 155226179 155226180 + RNA DEL CT CT - rs116602889 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr7:155226179_155226180delCT ENST00000419225.1 - 0 266 cacctcccccctctctctctct 0.579 2 4 --- --- --- --- ERICH1-AS1 619343 broad.mit.edu 37 8 770607 770607 + RNA DEL C C - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:770607delC ENST00000522092.1 + 0 175 ERICH1-AS1_ENST00000577187.1_RNA NR_073397.1|NR_073466.1 CTATTTTTTTCCACCAGAGGC 0.348 2 4 --- --- --- --- ERICH1-AS1 619343 broad.mit.edu 37 8 1021355 1021355 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:1021355delA ENST00000522092.1 + 0 332 ERICH1-AS1_ENST00000578889.1_RNA NR_073397.1|NR_073466.1 CTTGACTTTCAAGGGTGGCTT 0.567 2 4 --- --- --- --- AC021613.1 0 broad.mit.edu 37 8 21013660 21013663 + RNA DEL TGTG TGTG - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:21013660_21013663delTGTG ENST00000401126.2 + 0 19_22 ctcaatactatgtgtgtgtgtgtg 0.373 3 5 --- --- --- --- RP11-17A4.4 0 broad.mit.edu 37 8 57563985 57563986 + RNA DEL AG AG - rs36050163 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:57563985_57563986delAG ENST00000521215.1 - 0 316 aggaactgacagagtgagagct 0.535 5 3 --- --- --- --- RP11-1112C15.1 0 broad.mit.edu 37 8 58891190 58891190 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:58891190delA ENST00000522992.1 + 0 127 gttgtctgttaaaatctgttg 0.318 2 4 --- --- --- --- LOC102724623 102724623 broad.mit.edu 37 8 64959952 64959953 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:64959952_64959953insT ENST00000524360.1 - 0 195 RP11-32K4.1_ENST00000523191.1_RNA|RP11-32K4.1_ENST00000521958.1_RNA GAGAATTACCGTTTTTTATTCA 0.302 2 4 --- --- --- --- LINC01592 100505718 broad.mit.edu 37 8 69843571 69843572 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:69843571_69843572insG ENST00000518540.1 - 0 520 NR_039986.1 acttctcttgaggggagacaat 0.411 2 4 --- --- --- --- ZFHX4-AS1 100192378 broad.mit.edu 37 8 77548527 77548527 + RNA DEL A A - rs80118697 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:77548527delA ENST00000518143.1 - 0 434 ZFHX4-AS1_ENST00000522961.1_RNA NR_024360.1 aattaaaaccaaaaaaaaaag 0.239 2 4 --- --- --- --- RP11-653B10.1 0 broad.mit.edu 37 8 83446290 83446290 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:83446290delA ENST00000522776.1 - 0 262 tggggcatttagcccatttac 0.378 2 4 --- --- --- --- RP11-653B10.1 0 broad.mit.edu 37 8 83446470 83446470 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:83446470delT ENST00000522776.1 - 0 262 tagtgcttcctttttttttta 0.403 2 4 --- --- --- --- LOC101927141 101927141 broad.mit.edu 37 8 83851457 83851457 + RNA DEL A A - rs75589126 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:83851457delA ENST00000522123.1 - 0 57 CTD-2272D18.1_ENST00000524359.1_lincRNA aacaatgattaaaaaaaaaaa 0.308 2 4 --- --- --- --- RP11-120I21.2 0 broad.mit.edu 37 8 85046811 85046812 + RNA INS - - T rs66838730 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:85046811_85046812insT ENST00000523678.1 + 0 279 AGCTGCAAttcttttttttttt 0.455 2 4 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89510915 89510915 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:89510915delT ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA ACATTACttctttttttttta 0.318 2 4 --- --- --- --- RP11-122C21.1 0 broad.mit.edu 37 8 92756466 92756466 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:92756466delA ENST00000518416.1 - 0 415 cagaagcaataaaaaaAAAAA 0.403 2 4 --- --- --- --- LINC00535 642924 broad.mit.edu 37 8 94372825 94372826 + RNA DEL AC AC - rs33962637 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:94372825_94372826delAC ENST00000501400.1 - 0 1474 LINC00535_ENST00000520096.1_RNA NR_033858.1 AAAAAGacatacacacacacac 0.391 2 4 --- --- --- --- LINC00536 100859921 broad.mit.edu 37 8 117135575 117135575 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:117135575delT ENST00000505156.2 - 0 1463 NR_046215.1 GCTTCCCAGCttttttttttt 0.502 3 5 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130387972 130387985 + RNA DEL TGTGTGTGTGTGTG TGTGTGTGTGTGTG - rs138150886 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:130387972_130387985delTGTGTGTGTGTGTG ENST00000446592.3 - 0 360 ttgcattgtatgtgtgtgtgtgtgtgtgtgtgtg 0.360 2 4 --- --- --- --- CCDC26 137196 broad.mit.edu 37 8 130482199 130482199 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr8:130482199delA ENST00000446592.3 - 0 360 tctctctctcaaaaaaaaaGG 0.403 2 4 --- --- --- --- LINC00583 100113404 broad.mit.edu 37 9 13938906 13938906 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr9:13938906delT ENST00000381010.3 + 0 91 NR_038194.1 GTGAAGAGGCTTTTTTTTTCA 0.378 2 4 --- --- --- --- MIR31HG 554202 broad.mit.edu 37 9 21514747 21514747 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr9:21514747delA ENST00000304425.3 - 0 181 NR_027054.1 AAATGCTGACAAAAAAATGCC 0.299 2 4 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68405348 68405349 + RNA INS - - T rs149727388 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr9:68405348_68405349insT ENST00000417843.2 - 0 224 aaaattctcaataaatgaggta 0.312 7 32 --- --- --- --- RP11-305L7.3 0 broad.mit.edu 37 9 93921646 93921647 + RNA INS - - AGGAAAGAG rs59115110 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr9:93921646_93921647insAGGAAAGAG ENST00000457976.1 - 0 83 ggaaggaaggaaagaaagagag 0.510 2 4 --- --- --- --- LINC01492 101928496 broad.mit.edu 37 9 105911005 105911005 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr9:105911005delT ENST00000411575.1 - 0 941 ctttttacagtttttggctca 0.318 2 4 --- --- --- --- RP11-202G18.1 0 broad.mit.edu 37 9 114043911 114043911 + RNA DEL T T - rs11368157 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr9:114043911delT ENST00000426204.1 - 0 217 CCCATCAGCAttttttttttt 0.458 3 3 --- --- --- --- RP11-342D11.3 0 broad.mit.edu 37 10 33386434 33386435 + RNA DEL TA TA - rs150406042 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr10:33386434_33386435delTA ENST00000414308.1 - 0 202 tttgcaTTCTTATATGTTTTAA 0.396 4 3 --- --- --- --- ANTXRLP1 100996567 broad.mit.edu 37 10 47630034 47630034 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr10:47630034delT ENST00000454837.1 - 0 291 NR_103827.1 ctgctccaacttttttcctcc 0.418 2 4 --- --- --- --- RP11-170M17.1 0 broad.mit.edu 37 10 65591069 65591070 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr10:65591069_65591070insT ENST00000444770.1 + 0 494 GActctgtttcttttttttctc 0.371 2 4 --- --- --- --- CTA-109P11.1 0 broad.mit.edu 37 10 119329923 119329923 + RNA DEL G G - rs75751695 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr10:119329923delG ENST00000450247.1 - 0 162 AAGTTGGCAAGGGGGAGTAGG 0.448 3 4 --- --- --- --- DMBT1P1 375940 broad.mit.edu 37 10 124555371 124555371 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr10:124555371delA ENST00000439464.2 + 0 3362 NR_003570.1 AATTTAATACAAAAACCACCT 0.458 2 4 --- --- --- --- SAA3P 6290 broad.mit.edu 37 11 18135968 18135969 + RNA INS - - T rs151309798 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:18135968_18135969insT ENST00000534768.1 - 0 147 NR_026576.1 lung(2) 2 ggttctcaacctttgctgtgca 0.455 2 4 --- --- --- --- LINC01495 102723378 broad.mit.edu 37 11 22473186 22473186 + RNA DEL A A - rs146684697 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:22473186delA ENST00000532380.1 - 0 341 GCTGTTGTTGAAAAAAAAAAA 0.328 3 4 --- --- --- --- RP11-22P4.1 0 broad.mit.edu 37 11 28375573 28375573 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:28375573delT ENST00000532947.1 + 0 52 CCTCATATTCTAAGAGAGAAG 0.373 2 4 --- --- --- --- LOC440040 440040 broad.mit.edu 37 11 49630929 49630929 + RNA DEL T T - rs59368430 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:49630929delT ENST00000527477.1 + 0 1062 TATCCAGAAATTTTTTTTTTT 0.383 3 3 --- --- --- --- LOC101927495 101927495 broad.mit.edu 37 11 61370734 61370735 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:61370734_61370735insG ENST00000506329.2 + 0 293 CACAGATGTGAGGGGGGAGGGT 0.594 2 4 --- --- --- --- RP11-119D9.1 0 broad.mit.edu 37 11 67654840 67654842 + RNA DEL TTC TTC - rs35955393 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:67654840_67654842delTTC ENST00000511677.1 + 0 194 gatctaggcgttcttcttcttct 0.384 2 4 --- --- --- --- LOC101928989 101928989 broad.mit.edu 37 11 81776665 81776666 + RNA INS - - TT rs141457283 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:81776665_81776666insTT ENST00000500502.1 - 0 813 ggatgcatttcttttttttttt 0.381 3 3 --- --- --- --- LOC100506368 100506368 broad.mit.edu 37 11 86701696 86701697 + RNA DEL AC AC - rs71939983 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:86701696_86701697delAC ENST00000499504.3 + 0 139 NR_038905.1 catagcttgtacacacacacac 0.406 3 4 --- --- --- --- RP11-164N3.3 0 broad.mit.edu 37 11 87834215 87834215 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:87834215delT ENST00000528458.1 + 0 138 TGACATCAGGTTTTTGGTGTC 0.388 2 4 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89385933 89385937 + RNA DEL TATTT TATTT - rs67101267 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:89385933_89385937delTATTT ENST00000532352.1 + 0 402 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 ATATTGATTATATTTTATTAATGGT 0.293 3 3 --- --- --- --- DISC1FP1 101929222 broad.mit.edu 37 11 90230804 90230805 + RNA DEL CA CA - rs149973660 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:90230804_90230805delCA ENST00000562678.1 + 0 43 ggaatttgtccatctcttctag 0.337 4 3 --- --- --- --- DISC1FP1 101929222 broad.mit.edu 37 11 90235921 90235922 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:90235921_90235922insT ENST00000562678.1 + 0 43 GGTAGTTTAGCTTTTTTCATGA 0.332 5 2 --- --- --- --- DISC1FP1 101929222 broad.mit.edu 37 11 90329740 90329740 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:90329740delT ENST00000562678.1 + 0 185 AAGGGAATCATTTTCTTTCAC 0.363 2 4 --- --- --- --- DISC1FP1 101929222 broad.mit.edu 37 11 90433563 90433563 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:90433563delA ENST00000562678.1 + 0 185 AGTTATTTATAAGAATCTACT 0.303 2 4 --- --- --- --- RP11-360K13.1 0 broad.mit.edu 37 11 96487720 96487721 + RNA INS - - C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:96487720_96487721insC ENST00000527528.1 + 0 158 atcctccctcaccccccaacac 0.436 2 4 --- --- --- --- RP11-563P16.1 0 broad.mit.edu 37 11 103622997 103623000 + RNA DEL AATG AATG - rs71822712 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:103622997_103623000delAATG ENST00000533459.1 - 0 127 AACAAGgaataatgaatgaatgaa 0.412 4 6 --- --- --- --- RP11-262A12.1 0 broad.mit.edu 37 11 109624725 109624726 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:109624725_109624726insG ENST00000534252.2 - 0 542 ATGGTCAGCTTGGGGGGGTATA 0.475 2 4 --- --- --- --- LOC283140 283140 broad.mit.edu 37 11 112213419 112213420 + RNA INS - - T rs34286682 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:112213419_112213420insT ENST00000504610.2 + 0 238 cacctagctaattttttttttt 0.505 2 4 --- --- --- --- LOC100507431 100507431 broad.mit.edu 37 11 130730404 130730405 + RNA INS - - T rs72459859 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr11:130730404_130730405insT ENST00000533812.2 - 0 946 gttttgttttgtttttttttgt 0.431 2 4 --- --- --- --- RP11-114G22.1 0 broad.mit.edu 37 12 23147990 23147990 + RNA DEL A A - rs58639198 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:23147990delA ENST00000540895.1 + 0 508 TTTTCCCCAGAAAAGCTCTAT 0.403 3 3 --- --- --- --- RP11-444D3.1 0 broad.mit.edu 37 12 24607816 24607816 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:24607816delT ENST00000538905.1 - 0 45 CAGGAAAGAATATTAAGACAT 0.303 2 4 --- --- --- --- LINC00477 144360 broad.mit.edu 37 12 24728697 24728697 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:24728697delA ENST00000483544.1 - 0 1213 NR_029451.2 acaaaaaaagaaaaaaaaaag 0.383 2 4 --- --- --- --- RP11-625L16.1 0 broad.mit.edu 37 12 24866626 24866626 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:24866626delT ENST00000536131.1 + 0 192 TTAGTCCTCCTTTTTTTTTTC 0.458 3 6 --- --- --- --- RP11-283G6.4 0 broad.mit.edu 37 12 26469285 26469286 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:26469285_26469286insA ENST00000540392.1 - 0 130 RP11-283G6.5_ENST00000540625.1_RNA|RP11-612B6.1_ENST00000539552.1_lincRNA cactggggtacaaaaaaaaacc 0.545 2 4 --- --- --- --- RP11-847H18.3 0 broad.mit.edu 37 12 34200729 34200730 + RNA INS - - AGG rs149021494 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:34200729_34200730insAGG ENST00000537655.1 + 0 211 gtctagtttgcagaagtttctg 0.515 4 2 --- --- --- --- RP5-1057I20.2 0 broad.mit.edu 37 12 48227397 48227398 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:48227397_48227398insG ENST00000550909.1 + 0 105 GCAGGTGGGCAGGGGGGTGTCC 0.624 2 4 --- --- --- --- LOC102724050 102724050 broad.mit.edu 37 12 54827689 54827690 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:54827689_54827690insT ENST00000550474.1 + 0 116 RP11-753H16.5_ENST00000552785.1_RNA ttatttATTCAttttttttttg 0.490 3 3 --- --- --- --- RP11-150C16.1 0 broad.mit.edu 37 12 59396517 59396518 + RNA INS - - T rs59197497 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:59396517_59396518insT ENST00000547590.1 + 0 226 TTTCTTTCTGATTTTTTTTTTT 0.356 2 4 --- --- --- --- RP11-123O10.4 0 broad.mit.edu 37 12 67311757 67311758 + RNA DEL GA GA - rs111909371 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:67311757_67311758delGA ENST00000535721.1 - 0 113 cacacacacGgagagagagaga 0.426 2 4 --- --- --- --- RP11-123O10.4 0 broad.mit.edu 37 12 67386322 67386323 + RNA DEL AT AT - rs72524413 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:67386322_67386323delAT ENST00000535721.1 - 0 113 aagATAAGACATGTGctatcaa 0.351 4 4 --- --- --- --- RP11-335O4.1 0 broad.mit.edu 37 12 67967015 67967016 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:67967015_67967016insG ENST00000540761.1 - 0 273 ATGAACAGTTTGGGGGGGACAT 0.396 2 4 --- --- --- --- RP11-314D7.4 0 broad.mit.edu 37 12 73648870 73648870 + RNA DEL G G - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:73648870delG ENST00000549058.1 - 0 306 tggccatagtggcaggaatgg 0.512 2 4 --- --- --- --- RP11-54A9.1 0 broad.mit.edu 37 12 76679547 76679548 + RNA INS - - T rs111905363 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:76679547_76679548insT ENST00000553247.1 + 0 77 ACTATGGTTTGTTTTTTTTTTT 0.416 2 4 --- --- --- --- RP11-511B23.2 0 broad.mit.edu 37 12 93578035 93578036 + RNA DEL GT GT - rs61096511 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:93578035_93578036delGT ENST00000547432.1 - 0 316 RP11-511B23.2_ENST00000549930.1_RNA gacagacagagtgtgtgtgtgt 0.480 2 4 --- --- --- --- RP11-511B23.2 0 broad.mit.edu 37 12 93583146 93583146 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:93583146delT ENST00000547432.1 - 0 316 RP11-511B23.2_ENST00000549930.1_RNA cattttctacttttactctct 0.299 2 4 --- --- --- --- RP11-328J6.1 0 broad.mit.edu 37 12 103520442 103520443 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:103520442_103520443insA ENST00000548594.1 - 0 167 RP11-328J6.1_ENST00000548415.1_RNA tgaagttaactaaaaaAAAAAA 0.317 2 4 --- --- --- --- RP11-797M17.1 0 broad.mit.edu 37 12 107512583 107512597 + RNA DEL TGTTTGCCAAGGGTT TGTTTGCCAAGGGTT - rs113939106 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:107512583_107512597delTGTTTGCCAAGGGTT ENST00000547679.1 + 0 127 GCCTGAACAGTGTTTGCCAAGGGTTTGTTTGCCAA 0.516 3 3 --- --- --- --- RP4-601P9.2 0 broad.mit.edu 37 12 115184901 115184902 + RNA INS - - C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:115184901_115184902insC ENST00000551875.1 + 0 541 TTCTCTCCCAGCCCCCACATGG 0.649 2 4 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131964557 131964557 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr12:131964557delT ENST00000535133.1 - 0 195 tttccgtcacttacaatggaa 0.383 2 4 --- --- --- --- LINC00457 100874179 broad.mit.edu 37 13 35039556 35039556 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr13:35039556delT ENST00000605909.1 + 0 170 TCTTTCATTATTTATGAAAGA 0.403 2 4 --- --- --- --- LINC00368 101927802 broad.mit.edu 37 13 111754309 111754309 + RNA DEL T T - rs34252111 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr13:111754309delT ENST00000422994.1 + 0 250 aaaaaaaaaattcataataca 0.502 3 3 --- --- --- --- CTD-2591A6.2 0 broad.mit.edu 37 14 28851085 28851086 + RNA INS - - AC rs34008238 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr14:28851085_28851086insAC ENST00000548280.1 + 0 392 TATGTGTGCTTacacacacaca 0.307 4 3 --- --- --- --- FOXG1-AS1 103695363 broad.mit.edu 37 14 29227587 29227588 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr14:29227587_29227588insG ENST00000551395.1 - 0 278 RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA TTAAAAAGATAGGGGGAAAAGA 0.376 2 4 --- --- --- --- CTD-2251F13.1 0 broad.mit.edu 37 14 30756751 30756752 + RNA INS - - TG rs72235466 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr14:30756751_30756752insTG ENST00000508469.2 - 0 69 ttccaatattatgtgtgtgtgt 0.337 3 3 --- --- --- --- RP11-58E21.5 0 broad.mit.edu 37 14 50519464 50519465 + RNA DEL AC AC - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr14:50519464_50519465delAC ENST00000556019.2 - 0 186 gcacacacagacacacacacac 0.495 2 4 --- --- --- --- RP11-433J8.2 0 broad.mit.edu 37 14 97222125 97222126 + RNA INS - - CA rs10544450 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr14:97222125_97222126insCA ENST00000556669.1 + 0 188 GCTCAAAAATTcacacacacac 0.500 2 4 --- --- --- --- LOC100129345 100129345 broad.mit.edu 37 14 98134690 98134691 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr14:98134690_98134691insA ENST00000355909.3 - 0 414 NR_033943.1 ATCTTAGTCAGACCCATAGTTG 0.421 2 4 --- --- --- --- LOC101927079 101927079 broad.mit.edu 37 15 22336541 22336541 + RNA DEL A A - rs141660071 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:22336541delA ENST00000558896.1 + 0 583 tttttttactatttttttaat 0.299 6 4 --- --- --- --- PWRN1 791114 broad.mit.edu 37 15 24827534 24827534 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:24827534delT ENST00000568609.1 + 0 1230 NR_026646.1 tccagtcCCCTTTCATATTTA 0.378 2 4 --- --- --- --- CTD-2022H16.1 0 broad.mit.edu 37 15 30362894 30362895 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:30362894_30362895insT ENST00000421447.1 - 0 445 TTCCATGCCAGttttttttttt 0.490 2 4 --- --- --- --- LOC101928174 101928174 broad.mit.edu 37 15 35102322 35102322 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:35102322delA ENST00000503496.1 + 0 299 gcttattactaaatacgcaca 0.403 2 4 --- --- --- --- RP11-507B12.2 0 broad.mit.edu 37 15 61774823 61774824 + RNA INS - - AA rs35332157 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:61774823_61774824insAA ENST00000559783.1 - 0 186 ttatattagggaaaaaagacta 0.302 5 1 --- --- --- --- PCAT29 104472713 broad.mit.edu 37 15 69900712 69900712 + RNA DEL A A - rs35858681 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:69900712delA ENST00000558411.1 + 0 185 actccaactcaaaaaaaaaaa 0.488 3 2 --- --- --- --- DNM1P35 100128285 broad.mit.edu 37 15 76022680 76022681 + RNA INS - - G rs140139668 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:76022680_76022681insG ENST00000501931.1 - 0 517_518 NR_024595.3 GAAGGAATATTGGGGGGGGGTG 0.574 3 4 --- --- --- --- CTD-2034I4.1 0 broad.mit.edu 37 15 81836011 81836013 + RNA DEL TTG TTG - rs113661396 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:81836011_81836013delTTG ENST00000559211.1 + 0 98 ttttgttgttttgttgttgttgt 0.448 3 4 --- --- --- --- LOC101926928 101926928 broad.mit.edu 37 15 92014350 92014351 + RNA INS - - AC rs142279523 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:92014350_92014351insAC ENST00000554333.1 + 0 295 gatacacatagacacacacaca 0.351 3 3 --- --- --- --- CTD-2147F2.1 0 broad.mit.edu 37 15 97912350 97912350 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:97912350delT ENST00000560314.1 + 0 443 ATTTGAAGGGTTTTCATTTAA 0.289 2 4 --- --- --- --- CTD-2544M6.1 0 broad.mit.edu 37 15 98728794 98728795 + RNA INS - - T rs74854263 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr15:98728794_98728795insT ENST00000560360.1 - 0 291 TGCCttttttcttttttttttt 0.441 3 5 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5844513 5844514 + RNA DEL GT GT - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:5844513_5844514delGT ENST00000569895.1 + 0 403 GCCAGCgtgcgtgtgtgtgtgt 0.460 3 4 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5869115 5869115 + RNA DEL G G - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:5869115delG ENST00000569895.1 + 0 403 accacagactgggtggcttat 0.488 2 4 --- --- --- --- U91319.1 0 broad.mit.edu 37 16 13554710 13554710 + RNA DEL C C - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:13554710delC ENST00000571619.1 + 0 420 GCAAATCCTGCCCCACATTCA 0.512 2 4 --- --- --- --- RP11-67H24.2 0 broad.mit.edu 37 16 32831197 32831197 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:32831197delT ENST00000569859.1 + 0 373 tattatgtgatttttacctta 0.274 2 4 --- --- --- --- CES1P1 51716 broad.mit.edu 37 16 55808825 55808826 + RNA DEL AA AA - rs112369837 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:55808825_55808826delAA ENST00000571348.1 + 0 2246_2247 NR_003276.2 ctgtctctacaaaaaaaaaaaa 0.510 2 4 --- --- --- --- RP11-410D17.2 0 broad.mit.edu 37 16 58866958 58866958 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:58866958delT ENST00000500117.1 + 0 679 aattgcccccttttttttttc 0.428 2 4 --- --- --- --- LOC101927580 101927580 broad.mit.edu 37 16 60079515 60079515 + RNA DEL A A - rs34808354 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:60079515delA ENST00000568279.1 + 0 262 CACTTGTGCCAAAAAAAAAAA 0.328 3 3 --- --- --- --- RP11-467L24.1 0 broad.mit.edu 37 16 64424439 64424440 + RNA DEL CT CT - rs66609753 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:64424439_64424440delCT ENST00000564046.1 + 0 116 CCATGCATAACTCAGTGAATCT 0.351 6 1 --- --- --- --- RP11-351A20.1 0 broad.mit.edu 37 16 65667020 65667021 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:65667020_65667021insA ENST00000563811.1 + 0 167 GAGGTTCTATGAAAAAAAAAAA 0.332 2 4 --- --- --- --- LINC01572 101927957 broad.mit.edu 37 16 72652669 72652670 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:72652669_72652670insA ENST00000561611.2 - 0 113 tgtgaacagacaaaaaaaatca 0.332 2 4 --- --- --- --- LINC01572 101927957 broad.mit.edu 37 16 72692167 72692168 + RNA INS - - T rs71737505 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:72692167_72692168insT ENST00000561611.2 - 0 113 CTCTTTTCTGgttttttttttt 0.396 6 8 --- --- --- --- CTD-2336H13.2 0 broad.mit.edu 37 16 76852557 76852557 + RNA DEL T T - rs77790186 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:76852557delT ENST00000567777.1 + 0 138 atctgcctccttataagactg 0.448 7 3 --- --- --- --- CTD-2336H13.2 0 broad.mit.edu 37 16 76908676 76908677 + RNA INS - - TG rs33944143 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:76908676_76908677insTG ENST00000567777.1 + 0 138 ATGGCAATGCCtgtgtgtgtgt 0.332 4 2 --- --- --- --- RP11-679B19.2 0 broad.mit.edu 37 16 79247686 79247687 + RNA INS - - A rs34595115 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:79247686_79247687insA ENST00000569677.1 - 0 144 cacagcaatgcaaaagatagta 0.396 6 2 --- --- --- --- LOC102724084 102724084 broad.mit.edu 37 16 80368367 80368368 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:80368367_80368368insA ENST00000565050.1 - 0 598 RP11-525K10.3_ENST00000568819.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA TGTGCTGATACAAAAAGTCATT 0.356 2 4 --- --- --- --- LOC102724084 102724084 broad.mit.edu 37 16 80470530 80470531 + RNA DEL AC AC - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr16:80470530_80470531delAC ENST00000565050.1 - 0 598 RP11-525K10.3_ENST00000568819.1_RNA|RP11-525K10.3_ENST00000568776.1_RNA TTTGATAGTAACACACACACAC 0.426 2 4 --- --- --- --- RP11-47L3.1 0 broad.mit.edu 37 17 33641439 33641440 + RNA DEL GT GT - rs72180184 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr17:33641439_33641440delGT ENST00000585387.1 + 0 43 gagttgcccggtgtgtgcagtc 0.564 6 5 --- --- --- --- LOC339192 339192 broad.mit.edu 37 17 43294945 43294953 + RNA DEL TTCGAGATG TTCGAGATG - rs141786543 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr17:43294945_43294953delTTCGAGATG ENST00000586376.1 - 0 604 ccttccttccttcgagatggagtcttgct 0.550 3 3 --- --- --- --- RP11-763E3.1 0 broad.mit.edu 37 17 53938945 53938946 + RNA INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr17:53938945_53938946insG ENST00000571972.1 - 0 133 TTGTGTGTGTAGGGGGGGTGGT 0.347 2 4 --- --- --- --- RP11-60A24.3 0 broad.mit.edu 37 17 55879299 55879300 + RNA INS - - TTTCCTCTCAG rs58515496 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr17:55879299_55879300insTTTCCTCTCAG ENST00000580960.1 - 0 254 gttccattacctttcctctcag 0.332 3 5 --- --- --- --- UNK 85451 broad.mit.edu 37 17 73814801 73814802 + Frame_Shift_Ins INS - - C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr17:73814801_73814802insC ENST00000293218.3 + 12 1678_1679 c.1678_1679insC c.(1678-1680)cccfs p.P560fs UNK_ENST00000589666.1_Frame_Shift_Ins_p.P484fs Q9C0B0 UNK_HUMAN unkempt family zinc finger 484 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) CCTGGCAGCTACCCCCCCTAGC 0.614 8 26 --- --- --- --- RP11-703M24.5 0 broad.mit.edu 37 18 2818263 2818264 + RNA INS - - A rs59490791 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr18:2818263_2818264insA ENST00000583546.1 - 0 308 gattctgtctcaaaaaaaaaag 0.361 3 2 --- --- --- --- RP11-419J16.1 0 broad.mit.edu 37 18 10137647 10137648 + RNA DEL GA GA - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr18:10137647_10137648delGA ENST00000582470.1 + 0 162 TAGTGAAGGGGAGAGAGAGAGA 0.436 2 4 --- --- --- --- RP11-595B24.1 0 broad.mit.edu 37 18 19618750 19618750 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr18:19618750delA ENST00000584898.1 + 0 39 gaccctgtctaaaaaaaaaaa 0.418 2 4 --- --- --- --- KC6 641516 broad.mit.edu 37 18 39069155 39069156 + RNA INS - - G rs33964236 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr18:39069155_39069156insG ENST00000592302.1 - 0 507 NR_002838.1 CTGCTCAGAAACACCTGGCAGG 0.431 2 4 --- --- --- --- LINC00907 284260 broad.mit.edu 37 18 40014142 40014142 + RNA DEL A A - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr18:40014142delA ENST00000593234.1 + 0 713 NR_046456.1 agggtaaggtaaataaagagg 0.378 2 4 --- --- --- --- RP11-157P23.2 0 broad.mit.edu 37 18 45073761 45073762 + RNA INS - - A rs111636344 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr18:45073761_45073762insA ENST00000565127.1 + 0 515 gagactgtctcaaaaaaaaaaG 0.515 2 4 --- --- --- --- LINC01538 400654 broad.mit.edu 37 18 61919062 61919067 + RNA DEL ACACAC ACACAC - rs68104588 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr18:61919062_61919067delACACAC ENST00000588074.1 - 0 443 RP11-146N18.1_ENST00000589376.1_lincRNA NR_033983.1 GAAATATACAacacacacacacacac 0.335 3 4 --- --- --- --- LOC643542 643542 broad.mit.edu 37 18 65253690 65253691 + RNA INS - - A TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr18:65253690_65253691insA ENST00000583687.1 + 0 204 NR_033921.1 GCGGTCTGCTGAAAAAACACAT 0.386 2 4 --- --- --- --- LINC01541 100505776 broad.mit.edu 37 18 69190310 69190311 + RNA DEL TA TA - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr18:69190310_69190311delTA ENST00000568095.1 - 0 897_898 NR_038325.1 tatttatatgtatatatatgtg 0.386 2 4 --- --- --- --- PARD6G 84552 broad.mit.edu 37 18 77917844 77917845 + Frame_Shift_Ins INS - - G TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr18:77917844_77917845insG ENST00000353265.3 - 3 1137_1138 c.940_941insC c.(940-942)gacfs p.D314fs AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000587254.1_Intron NM_032510.3 NP_115899.1 Q9BYG4 PAR6G_HUMAN par-6 family cell polarity regulator gamma 314 cell cycle|cell division|tight junction assembly cytosol|tight junction protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144) Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23) GCCCGGGGTCTGGGGGGGACGT 0.748 3 6 --- --- --- --- LOC100289333 100289333 broad.mit.edu 37 19 12334418 12334419 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:12334418_12334419insT ENST00000426044.1 + 0 127 ATTGAAATGTATTTTTTTTGTG 0.332 2 4 --- --- --- --- CTD-2562J15.6 0 broad.mit.edu 37 19 16405928 16405930 + RNA DEL GGG GGG - rs5827330 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:16405928_16405930delGGG ENST00000588799.1 - 0 208 gggagggggagggggaggaggag 0.527 3 6 --- --- --- --- LOC100420587 100420587 broad.mit.edu 37 19 29007036 29007036 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:29007036delT ENST00000592347.1 - 0 642 AC005616.2_ENST00000592931.1_lincRNA|AC005616.1_ENST00000589999.1_RNA taaaatcaggtttttttgttt 0.438 2 4 --- --- --- --- LOC284395 284395 broad.mit.edu 37 19 29881765 29881766 + RNA INS - - A rs143827567 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:29881765_29881766insA ENST00000582581.1 - 0 2030 NR_040029.1 aaggaaggaggaaaggaagaaa 0.376 3 4 --- --- --- --- LENG8-AS1 104355426 broad.mit.edu 37 19 54958798 54958799 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:54958798_54958799insT ENST00000429922.1 - 0 504 LENG8-AS1_ENST00000416022.1_RNA tgcaacttttcttttttttttt 0.431 3 5 --- --- --- --- ZIM2-AS1 101929059 broad.mit.edu 37 19 57250331 57250331 + RNA DEL C C - rs1029839 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr19:57250331delC ENST00000594400.1 + 0 266 AC006115.3_ENST00000600093.1_RNA|AC006115.3_ENST00000597822.1_RNA accctctcttcgggtctgaat 0.443 2 4 --- --- --- --- LOC101929312 101929312 broad.mit.edu 37 20 7343306 7343306 + RNA DEL G G - rs2423216 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr20:7343306delG ENST00000455299.1 + 0 395 TTCCTTTTTTGTTCCAGTACA 0.403 2 4 --- --- --- --- LINC01270 284751 broad.mit.edu 37 20 48917691 48917692 + RNA INS - - GGATGGAT rs76309641 by1000genomes TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr20:48917691_48917692insGGATGGAT ENST00000371639.3 + 0 369 NR_034124.1 atggatgggtaggatggatgga 0.450 3 5 --- --- --- --- RP5-843L14.1 0 broad.mit.edu 37 20 55155930 55155930 + RNA DEL T T - rs11479233 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr20:55155930delT ENST00000434176.1 + 0 557 aaaggttttctttttttttgt 0.438 4 2 --- --- --- --- TEKT4P2 100132288 broad.mit.edu 37 21 9963465 9963466 + RNA INS - - T TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr21:9963465_9963466insT ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 CGTGCTAAACCAGAAACCCAAA 0.426 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11079710 11079711 + RNA INS - - TA rs74711197 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr21:11079710_11079711insTA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aatttttttttaaaGCAAATTC 0.406 3 5 --- --- --- --- ANKRD30BP2 149992 broad.mit.edu 37 21 14412202 14412203 + RNA INS - - T rs147346900 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr21:14412202_14412203insT ENST00000507941.1 + 0 95 acagtagaaaaccagaaacacc 0.322 2 4 --- --- --- --- CHODL-AS1 54075 broad.mit.edu 37 21 19249695 19249695 + RNA DEL T T - rs35401761 TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr21:19249695delT ENST00000447175.1 - 0 147 NR_024354.1 aatttatagattttttttttt 0.308 3 3 --- --- --- --- LINC00189 193629 broad.mit.edu 37 21 30628578 30628578 + RNA DEL T T - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr21:30628578delT ENST00000420364.1 + 0 767 NR_027072.2 AGGTTCCTCCTTTTTTTGTAC 0.393 2 4 --- --- --- --- LARGE 9215 broad.mit.edu 37 22 33578377 33578378 + RNA DEL TG TG - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr22:33578377_33578378delTG ENST00000421232.1 - 0 150 CCTTTCATATTGTGTGTGTGTC 0.307 2 4 --- --- --- --- ISX-AS1 101926957 broad.mit.edu 37 22 35391188 35391188 + RNA DEL G G - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chr22:35391188delG ENST00000448318.4 - 0 1184 tcagaaggcaggaagcaaaag 0.473 2 4 --- --- --- --- PTCHD1-AS 100873065 broad.mit.edu 37 X 22683392 22683393 + RNA INS - - C TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chrX:22683392_22683393insC ENST00000455399.1 - 0 178 CTAGCTCTTCTCCCCCCCAGCT 0.480 4 4 --- --- --- --- RP1-137H15.2 0 broad.mit.edu 37 X 136639295 136639296 + RNA DEL AC AC - TCGA-17-Z020-01A-01W-0746-08 TCGA-17-Z020-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ea20aa3-68cf-4389-9ace-99d6149d16c1 cf1e2bab-df59-4068-8c13-c894b631d4a6 g.chrX:136639295_136639296delAC ENST00000456631.1 - 0 190 catccttaaaacacacacacac 0.441 2 4 --- --- --- ---